INSR (insulin receptor) - Rat Genome Database

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Gene: INSR (insulin receptor) Homo sapiens
Analyze
Symbol: INSR
Name: insulin receptor
RGD ID: 69029
HGNC Page HGNC:6091
Description: Enables several functions, including PTB domain binding activity; insulin-like growth factor binding activity; and purine ribonucleoside triphosphate binding activity. Involved in several processes, including positive regulation of intracellular signal transduction; positive regulation of metabolic process; and protein phosphorylation. Located in caveola; nuclear envelope; and nuclear lumen. Part of insulin receptor complex. Implicated in Donohue syndrome; glucose metabolism disease (multiple); and reproductive organ cancer (multiple). Biomarker of Alzheimer's disease; breast cancer; hepatocellular carcinoma; renal cell carcinoma; and seminoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD220; HHF5; IR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38197,112,265 - 7,294,414 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl197,112,255 - 7,294,414 (-)EnsemblGRCh38hg38GRCh38
GRCh37197,112,276 - 7,294,425 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36197,063,266 - 7,245,011 (-)NCBINCBI36Build 36hg18NCBI36
Build 34197,067,637 - 7,245,011NCBI
Celera197,049,684 - 7,205,258 (-)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef196,846,024 - 7,028,322 (-)NCBIHuRef
CHM1_1197,111,894 - 7,294,424 (-)NCBICHM1_1
T2T-CHM13v2.0197,103,362 - 7,286,608 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
46, XY Disorders of Sex Development  (IAGP)
AIDS Dementia Complex  (IEP)
Alzheimer's disease  (EXP,IEP,ISO)
autism spectrum disorder  (EXP)
breast cancer  (IEP)
cardiomyopathy  (ISO)
choriocarcinoma  (IDA)
chronic kidney disease  (ISO)
congenital diaphragmatic hernia  (EXP)
diabetes mellitus  (IAGP)
diabetic ketoacidosis  (ISO)
diabetic neuropathy  (EXP,ISO)
diabetic retinopathy  (ISS)
Donohue syndrome  (EXP,IAGP)
esophageal atresia  (IAGP)
Experimental Diabetes Mellitus  (EXP,IMP,ISO)
Experimental Liver Neoplasms  (ISO)
familial hyperinsulinemic hypoglycemia 4  (IAGP)
familial hyperinsulinemic hypoglycemia 5  (EXP,IAGP)
genetic disease  (IAGP)
gestational diabetes  (IDA,ISO)
glucose intolerance  (EXP,ISO)
hepatic encephalopathy  (ISO)
hepatocellular carcinoma  (IEP,ISO)
Hyperalgesia  (EXP,ISO)
hyperglycemia  (EXP)
hyperinsulinism  (EXP,ISO)
Insulin Resistance  (EXP,IAGP,ISO)
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans  (EXP,IAGP)
Lewy body dementia  (EXP)
lipoatrophic diabetes mellitus  (ISO)
lipodystrophy  (ISO)
lung disease  (EXP)
maturity-onset diabetes of the young type 1  (IAGP)
metabolic dysfunction-associated steatotic liver disease  (ISO)
Metabolic Syndrome  (ISO)
mucolipidosis type IV  (IAGP)
Native American myopathy  (IAGP)
Parkinson's disease  (EXP)
PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES  (IAGP)
pre-malignant neoplasm  (ISO)
prostate adenocarcinoma  (IMP)
Prostatic Neoplasms  (IEP)
Protein Deficiency  (ISO)
renal cell carcinoma  (IEP)
seminoma  (IEP)
short bowel syndrome  (ISO)
steatotic liver disease  (ISO)
substance-related disorder  (EXP)
type 2 diabetes mellitus  (IAGP,IDA,ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP,ISO)
(1->4)-beta-D-glucan  (ISO)
(3,4-dihydroxyphenyl)acetic acid  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-nitrophenol  (ISO)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (EXP)
6-propyl-2-thiouracil  (ISO)
9-cis,11-trans-octadecadienoic acid  (ISO)
9-cis-retinoic acid  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
AICA ribonucleotide  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
allethrin  (ISO)
allopurinol  (ISO)
alloxan  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP,ISO)
AP20187  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenic trichloride  (EXP)
arsenite(3-)  (ISO)
asiatic acid  (ISO)
bellidifolin  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
benzoic acid  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP,ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
chromium atom  (ISO)
chromium(3+) trichloride  (ISO)
chromium(6+)  (ISO)
CL316243  (ISO)
cobalt atom  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
D-glucose  (EXP,ISO)
dapagliflozin  (ISO)
DDT  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
Dibutyl phosphate  (EXP)
diclofenac  (EXP)
dioxygen  (EXP,ISO)
dipyridamole  (EXP)
doxorubicin  (EXP)
duvoglustat  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
fenthion  (ISO)
fenvalerate  (ISO)
fructose  (ISO)
fulvestrant  (ISO)
Geniposide  (ISO)
gentamycin  (ISO)
glucose  (EXP,ISO)
glyburide  (ISO)
hexachlorobenzene  (EXP,ISO)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP)
indometacin  (ISO)
insulin  (ISO)
isoliquiritigenin  (ISO)
ketoconazole  (ISO)
L-ascorbic acid  (ISO)
lead diacetate  (ISO)
leflunomide  (ISO)
linoleic acid  (ISO)
linsidomine  (ISO)
lovastatin  (ISO)
luteolin  (ISO)
magnesium atom  (EXP)
manganese atom  (EXP,ISO)
manganese(0)  (EXP,ISO)
manganese(II) chloride  (ISO)
melatonin  (ISO)
metformin  (EXP,ISO)
methamphetamine  (EXP,ISO)
methapyrilene  (EXP,ISO)
methidathion  (ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
methylglyoxal  (EXP)
methylmercury chloride  (ISO)
miconazole  (ISO)
molybdate  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
NAD zwitterion  (EXP)
NAD(+)  (EXP)
nickel atom  (EXP,ISO)
nicotinamide  (ISO)
nicotine  (ISO)
nitrofen  (ISO)
oleanolic acid  (ISO)
oleic acid  (EXP)
orientin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylarsine oxide  (ISO)
phenytoin  (EXP)
picolinic acid  (ISO)
potassium chromate  (EXP)
procyanidin B1  (ISO)
progesterone  (EXP,ISO)
puerarin  (ISO)
pyrethrins  (ISO)
quercetin  (ISO)
quercitrin  (EXP)
raffinose  (ISO)
rebaudioside A  (ISO)
resveratrol  (EXP,ISO)
rivastigmine  (ISO)
Rutamarin  (ISO)
rutin  (ISO)
SB 203580  (ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
steviol  (ISO)
stevioside  (ISO)
streptozocin  (EXP,ISO)
sulfasalazine  (EXP)
taurine  (ISO)
testosterone  (EXP)
tetrachloroethene  (ISO)
thiazolidines  (ISO)
titanium dioxide  (ISO)
tributylstannane  (EXP,ISO)
trichloroethene  (ISO)
triclosan  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
verapamil  (ISO)
vildagliptin  (ISO)
vitamin E  (ISO)
wortmannin  (ISO)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adrenal gland development  (IEA)
amyloid-beta clearance  (ISS)
animal organ morphogenesis  (IEA)
cell surface receptor protein tyrosine kinase signaling pathway  (IEA)
cellular response to growth factor stimulus  (IEA)
cellular response to insulin stimulus  (IDA)
cellular response to zinc ion starvation  (ISO)
cerebellum development  (ISO)
dendritic spine maintenance  (ISS)
embryonic liver development  (ISO)
epidermis development  (IEA)
exocrine pancreas development  (IEA)
fat cell differentiation  (ISO)
G protein-coupled receptor signaling pathway  (IDA)
glucose homeostasis  (IBA,IMP)
heart morphogenesis  (IMP)
hippocampus development  (ISO)
insulin receptor signaling pathway  (IBA,IDA,IEA,IGI,ISO,ISS,TAS)
learning  (TAS)
liver development  (ISO)
liver regeneration  (ISO)
male gonad development  (IEA)
male sex determination  (IEA)
memory  (TAS)
negative regulation of feeding behavior  (ISO)
negative regulation of gene expression  (ISO)
negative regulation of glycogen biosynthetic process  (ISO)
negative regulation of protein phosphorylation  (ISO)
negative regulation of transporter activity  (ISO)
neuron projection maintenance  (ISS)
peptidyl-tyrosine autophosphorylation  (ISO)
peptidyl-tyrosine phosphorylation  (ISO)
positive regulation of canonical NF-kappaB signal transduction  (IGI)
positive regulation of cell migration  (IMP)
positive regulation of cell population proliferation  (IC,IDA,IMP)
positive regulation of D-glucose import  (IDA,NAS)
positive regulation of developmental growth  (IMP)
positive regulation of DNA-templated transcription  (IEA)
positive regulation of glycogen biosynthetic process  (IDA,IEA)
positive regulation of glycolytic process  (IMP)
positive regulation of glycoprotein biosynthetic process  (ISO)
positive regulation of MAPK cascade  (IBA,IDA,IMP)
positive regulation of meiotic cell cycle  (IEA)
positive regulation of mitotic nuclear division  (IEA,IMP)
positive regulation of nitric oxide biosynthetic process  (IMP)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IBA,IDA,IEA,IMP)
positive regulation of phosphorylation  (ISO)
positive regulation of protein-containing complex disassembly  (ISS)
positive regulation of receptor internalization  (IDA)
positive regulation of respiratory burst  (IDA)
protein autophosphorylation  (IMP,ISO)
protein phosphorylation  (ISO)
receptor internalization  (IEA)
receptor-mediated endocytosis  (ISS)
regulation of DNA-templated transcription  (IMP)
regulation of embryonic development  (IMP)
regulation of female gonad development  (IEA)
regulation of gluconeogenesis  (ISO)
regulation of hydrogen peroxide metabolic process  (ISO)
response to activity  (ISO)
response to estradiol  (ISO)
response to ethanol  (ISO)
response to food  (ISO)
response to glucocorticoid  (ISO)
response to glucose  (ISO)
response to hormone  (ISO)
response to hypoxia  (ISO)
response to insulin  (ISO)
response to manganese ion  (ISO)
response to nutrient levels  (ISO)
response to resveratrol  (ISO)
response to starvation  (ISO)
response to testosterone  (ISO)
response to tumor necrosis factor  (ISO)
response to vanadate(3-)  (ISO)
response to vitamin D  (ISO)
symbiont entry into host cell  (IMP)
transport across blood-brain barrier  (NAS)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormal circulating C-peptide concentration  (IAGP)
Abnormality of the dentition  (IAGP)
Acanthosis nigricans  (IAGP)
Accelerated skeletal maturation  (IAGP)
Adipose tissue loss  (IAGP)
Advanced eruption of teeth  (IAGP)
Anteverted nares  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial hypotonia  (IAGP)
Cardiomyopathy  (IAGP)
Central hypothyroidism  (IAGP)
Childhood onset  (IAGP)
Cholestasis  (IAGP)
Clitoral hypertrophy  (IAGP)
CNS demyelination  (IAGP)
Coarse facial features  (IAGP)
Coma  (IAGP)
Congenital onset  (IAGP)
Conjugated hyperbilirubinemia  (IAGP)
Decreased body weight  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Dental crowding  (IAGP)
Diabetic ketoacidosis  (IAGP)
Dry skin  (IAGP)
Elevated circulating insulin:C-peptide ratio  (IAGP)
Elevated gamma-glutamyltransferase level  (IAGP)
Elfin facies  (IAGP)
Enlarged kidney  (IAGP)
Enlarged ovaries  (IAGP)
Esophageal atresia  (IAGP)
Facial hypertrichosis  (IAGP)
Failure to thrive  (IAGP)
Fasting hyperinsulinemia  (IAGP)
Fasting hypoglycemia  (IAGP)
Fatigue  (IAGP)
Furrowed tongue  (IAGP)
Generalized hirsutism  (IAGP)
Generalized hyperpigmentation  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatomegaly  (IAGP)
High palate  (IAGP)
Hirsutism  (IAGP)
Hypercalciuria  (IAGP)
Hyperextensible skin  (IAGP)
Hyperglycemia  (IAGP)
Hyperinsulinemia  (IAGP)
Hyperinsulinemic hypoglycemia  (IAGP)
Hyperkeratosis  (IAGP)
Hypermelanotic macule  (IAGP)
Hypertelorism  (IAGP)
Hypertrichosis  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoglycemia  (IAGP)
Hypoglycemic coma  (IAGP)
Hypoglycemic seizures  (IAGP)
Hypokalemia  (IAGP)
Hypothyroidism  (IAGP)
Impaired glucose tolerance  (IAGP)
Increased C-peptide level  (IAGP)
Increased circulating aldosterone concentration  (IAGP)
Increased circulating androgen concentration  (IAGP)
Increased circulating renin concentration  (IAGP)
Increased pineal volume  (IAGP)
Increased serum testosterone level  (IAGP)
Insulin resistance  (IAGP)
Insulin-resistant diabetes mellitus  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Juvenile onset  (IAGP)
Labial hypertrophy  (IAGP)
Large hands  (IAGP)
Left ventricular hypertrophy  (IAGP)
Lichenoid skin lesion  (IAGP)
Long foot  (IAGP)
Long penis  (IAGP)
Low anterior hairline  (IAGP)
Low-set ears  (IAGP)
Macroglossia  (IAGP)
Macrotia  (IAGP)
Mandibular prognathia  (IAGP)
Medullary nephrocalcinosis  (IAGP)
Megarectum  (IAGP)
Microcephaly  (IAGP)
Nail dysplasia  (IAGP)
Neonatal onset  (IAGP)
Nephrocalcinosis  (IAGP)
Onychauxis  (IAGP)
Ovarian cyst  (IAGP)
Overgrowth of external genitalia  (IAGP)
Pancreatic islet-cell hyperplasia  (IAGP)
Peripheral neuropathy  (IAGP)
Pointed chin  (IAGP)
Polydactyly  (IAGP)
Polydipsia  (IAGP)
Polyhydramnios  (IAGP)
Postnatal growth retardation  (IAGP)
Postprandial hyperglycemia  (IAGP)
Precocious puberty  (IAGP)
Premature graying of hair  (IAGP)
Prominent nasal bridge  (IAGP)
Prominent nipples  (IAGP)
Proptosis  (IAGP)
Protruding ear  (IAGP)
Rectal prolapse  (IAGP)
Recurrent hypoglycemia  (IAGP)
Recurrent infantile hypoglycemia  (IAGP)
Recurrent infections  (IAGP)
Recurrent otitis media  (IAGP)
Reduced subcutaneous adipose tissue  (IAGP)
Retinopathy  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Severe intrauterine growth retardation  (IAGP)
Severe postnatal growth retardation  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Small face  (IAGP)
Small for gestational age  (IAGP)
Splenomegaly  (IAGP)
Subcutaneous nodule  (IAGP)
Thick hair  (IAGP)
Thick lower lip vermilion  (IAGP)
Thick vermilion border  (IAGP)
Thickened skin  (IAGP)
Type II diabetes mellitus  (IAGP)
Ventricular septal defect  (IAGP)
Wide mouth  (IAGP)
Wide nose  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Upregulation of the insulin receptor and type I insulin-like growth factor receptor are early events in hepatocarcinogenesis. Aleem E, etal., Toxicol Pathol. 2011 Apr;39(3):524-43. doi: 10.1177/0192623310396905. Epub 2011 Mar 16.
2. Insulin signaling coordinately regulates cardiac size, metabolism, and contractile protein isoform expression. Belke DD, etal., J Clin Invest 2002 Mar;109(5):629-39.
3. Oral insulin stimulates intestinal epithelial cell turnover in correlation with insulin-receptor expression along the villus-crypt axis in a rat model of short bowel syndrome. Ben Lulu S, etal., Pediatr Surg Int. 2010 Jan;26(1):37-44. doi: 10.1007/s00383-009-2520-x.
4. Impaired insulin action but normal insulin receptor activity in diabetic rat liver: effect of vanadate. Blondel O, etal., Am J Physiol. 1990 Mar;258(3 Pt 1):E459-67. doi: 10.1152/ajpendo.1990.258.3.E459.
5. Adipose tissue selective insulin receptor knockout protects against obesity and obesity-related glucose intolerance. Bluher M, etal., Dev Cell 2002 Jul;3(1):25-38.
6. Genomic actions of 1,25-dihydroxyvitamin D3 on insulin receptor gene expression, insulin receptor number and insulin activity in the kidney, liver and adipose tissue of streptozotocin-induced diabetic rats. Calle C, etal., BMC Mol Biol. 2008 Jul 18;9:65.
7. Mitogenic insulin receptor-A is overexpressed in human hepatocellular carcinoma due to EGFR-mediated dysregulation of RNA splicing factors. Chettouh H, etal., Cancer Res. 2013 Jul 1;73(13):3974-86. doi: 10.1158/0008-5472.CAN-12-3824. Epub 2013 Apr 30.
8. Defective insulin signaling in placenta from pregnancies complicated by gestational diabetes mellitus. Colomiere M, etal., Eur J Endocrinol. 2009 Apr;160(4):567-78. Epub 2009 Jan 29.
9. IGF-II regulates metastatic properties of choriocarcinoma cells through the activation of the insulin receptor. Diaz LE, etal., Mol Hum Reprod. 2007 Aug;13(8):567-76. Epub 2007 Jun 6.
10. Insulin Resistance Disrupts the Interaction Between AKT and the NMDA Receptor and the Inactivation of the CaMKIV/CREB Pathway in Minimal Hepatic Encephalopathy. Ding S, etal., Toxicol Sci. 2017 Oct 1;159(2):290-306. doi: 10.1093/toxsci/kfx093.
11. Insulin resistance promotes Lysyl Oxidase Like 2 induction and fibrosis accumulation in non-alcoholic fatty liver disease. Dongiovanni P, etal., Clin Sci (Lond). 2017 Jun 7;131(12):1301-1315. doi: 10.1042/CS20170175. Print 2017 Jun 1.
12. Tissue- and fibre-specific modifications of insulin-signalling molecules in cardiac and skeletal muscle of diabetic rats. Ekladous D, etal., Clin Exp Pharmacol Physiol. 2008 Aug;35(8):971-8. Epub 2008 Apr 21.
13. Insulin receptor, insulin receptor substrate-1, Raf-1, and Mek-1 during hormonal hepatocarcinogenesis by intrahepatic pancreatic islet transplantation in diabetic rats. Evert M, etal., Cancer Res. 2004 Nov 1;64(21):8093-100.
14. Soybean diet alters the insulin-signaling pathway in the liver of rats recovering from early-life malnutrition. Feres NH, etal., Nutrition. 2010 Apr;26(4):441-8. Epub 2009 Oct 31.
15. Structural and functional studies of insulin receptors in human breast cancer. Frittitta L, etal., Breast Cancer Res Treat. 1993;25(1):73-82.
16. Mitofusin-2 ameliorates high-fat diet-induced insulin resistance in liver of rats. Gan KX, etal., World J Gastroenterol. 2013 Mar 14;19(10):1572-81. doi: 10.3748/wjg.v19.i10.1572.
17. Soluble and cell-associated insulin receptor dysfunction correlates with severity of HAND in HIV-infected women. Gerena Y, etal., PLoS One. 2012;7(5):e37358. doi: 10.1371/journal.pone.0037358. Epub 2012 May 22.
18. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
19. The effects of maternal diabetes on expression of insulin-like growth factor-1 and insulin receptors in male developing rat hippocampus. Hami J, etal., Brain Struct Funct. 2013 Jan;218(1):73-84. doi: 10.1007/s00429-011-0377-y. Epub 2012 Jan 13.
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PMID:36736316   PMID:36739671   PMID:36931226   PMID:36976175   PMID:37001136   PMID:37052755   PMID:37478010   PMID:37595266   PMID:37717597   PMID:37724583   PMID:37863470   PMID:38056462  
PMID:38389245   PMID:38521788   PMID:38752921   PMID:38976738   PMID:39201651   PMID:39287700   PMID:39499777  


Genomics

Comparative Map Data
INSR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38197,112,265 - 7,294,414 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl197,112,255 - 7,294,414 (-)EnsemblGRCh38hg38GRCh38
GRCh37197,112,276 - 7,294,425 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36197,063,266 - 7,245,011 (-)NCBINCBI36Build 36hg18NCBI36
Build 34197,067,637 - 7,245,011NCBI
Celera197,049,684 - 7,205,258 (-)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef196,846,024 - 7,028,322 (-)NCBIHuRef
CHM1_1197,111,894 - 7,294,424 (-)NCBICHM1_1
T2T-CHM13v2.0197,103,362 - 7,286,608 (-)NCBIT2T-CHM13v2.0
Insr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3983,200,922 - 3,329,649 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl83,172,061 - 3,329,617 (-)EnsemblGRCm39 Ensembl
GRCm3883,150,922 - 3,279,649 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl83,122,061 - 3,279,617 (-)EnsemblGRCm38mm10GRCm38
MGSCv3783,150,922 - 3,279,617 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3683,155,669 - 3,279,176 (-)NCBIMGSCv36mm8
Celera83,375,321 - 3,505,728 (-)NCBICelera
Cytogenetic Map8A1.1NCBI
cM Map81.82NCBI
Insr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8125,991,135 - 6,129,275 (-)NCBIGRCr8
mRatBN7.2121,193,193 - 1,330,976 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl121,197,100 - 1,330,883 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx121,861,209 - 1,995,191 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0122,484,768 - 2,618,760 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0121,257,014 - 1,390,911 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0121,682,527 - 1,816,414 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl121,680,957 - 1,816,414 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0123,848,670 - 3,989,302 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4122,934,967 - 3,087,691 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1122,934,966 - 3,087,691 (+)NCBI
Celera123,053,590 - 3,185,991 (-)NCBICelera
Cytogenetic Map12p12NCBI
Insr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555631,867,400 - 2,009,149 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555631,867,400 - 2,011,845 (+)NCBIChiLan1.0ChiLan1.0
INSR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22011,772,936 - 11,957,738 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11910,890,695 - 11,075,653 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0196,393,407 - 6,578,234 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1197,255,444 - 7,411,916 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl197,260,246 - 7,414,889 (-)Ensemblpanpan1.1panPan2
INSR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12052,017,261 - 52,136,061 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2052,021,887 - 52,136,046 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2051,822,227 - 51,957,301 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02052,547,342 - 52,682,557 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2052,551,139 - 52,683,109 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12051,751,620 - 51,886,677 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02052,194,853 - 52,330,054 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02052,425,027 - 52,560,283 (-)NCBIUU_Cfam_GSD_1.0
Insr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118213,335,383 - 213,489,477 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365884,345,306 - 4,453,668 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365884,345,306 - 4,453,380 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
INSR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl271,797,204 - 71,936,104 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1271,797,209 - 71,939,923 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2272,388,108 - 72,420,533 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap2q11-q21NCBI
INSR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.166,625,951 - 6,803,610 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl66,630,777 - 6,803,592 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660811,077,953 - 1,266,880 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Insr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624828345,135 - 486,184 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624828345,135 - 485,856 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in INSR
738 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000208.4(INSR):c.3104G>T (p.Gly1035Val) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000015793] Chr19:7125437 [GRCh38]
Chr19:7125448 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.1459A>G (p.Lys487Glu) single nucleotide variant INSR-related disorder [RCV004724744]|Leprechaunism syndrome [RCV000015794] Chr19:7170561 [GRCh38]
Chr19:7170572 [GRCh37]
Chr19:19p13.2		 pathogenic|uncertain significance
NM_000208.4(INSR):c.1177G>A (p.Gly393Arg) single nucleotide variant Leprechaunism syndrome [RCV000015795] Chr19:7172381 [GRCh38]
Chr19:7172392 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.2095C>T (p.Gln699Ter) single nucleotide variant Leprechaunism syndrome [RCV000015796] Chr19:7152862 [GRCh38]
Chr19:7152873 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.3680G>C (p.Trp1227Ser) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000015797] Chr19:7119563 [GRCh38]
Chr19:7119574 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.2286G>T (p.Arg762Ser) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000015798] Chr19:7143072 [GRCh38]
Chr19:7143083 [GRCh37]
Chr19:19p13.2		 pathogenic
INSR, EX17, ALU AND Insulin-resistant diabetes mellitus insertion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000015799] Chr19:19p13.2 pathogenic
NM_000208.4(INSR):c.2770C>T (p.Arg924Ter) single nucleotide variant Leprechaunism syndrome [RCV000015800] Chr19:7132230 [GRCh38]
Chr19:7132241 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.3481G>A (p.Ala1161Thr) single nucleotide variant Insulin resistance [RCV000015802]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000015801] Chr19:7122662 [GRCh38]
Chr19:7122673 [GRCh37]
Chr19:19p13.2		 pathogenic
INSR, TRP1200SER AND Insulin-resistant diabetes mellitus variation Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000015803] Chr19:19p13.2 pathogenic
NM_000208.4(INSR):c.779T>C (p.Leu260Pro) single nucleotide variant Leprechaunism syndrome [RCV000015804] Chr19:7184511 [GRCh38]
Chr19:7184522 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.1225T>G (p.Phe409Val) single nucleotide variant Insulin-resistant diabetes mellitus [RCV000015805] Chr19:7172333 [GRCh38]
Chr19:7172344 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.126C>A (p.Asn42Lys) single nucleotide variant Rabson-Mendenhall syndrome [RCV000015806] Chr19:7267871 [GRCh38]
Chr19:7267882 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.3079C>T (p.Arg1027Ter) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000128412]|Rabson-Mendenhall syndrome [RCV000015807] Chr19:7125462 [GRCh38]
Chr19:7125473 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.707A>G (p.His236Arg) single nucleotide variant Leprechaunism syndrome [RCV000015808] Chr19:7184583 [GRCh38]
Chr19:7184594 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.479G>A (p.Trp160Ter) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000015809] Chr19:7267518 [GRCh38]
Chr19:7267529 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.1466A>G (p.Asn489Ser) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000015810]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV004795417]|not provided [RCV001753417] Chr19:7170554 [GRCh38]
Chr19:7170565 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic|uncertain significance
NM_000208.3(INSR):c.2683-542_2842+544del AND Insulin-resistant diabetes mellitus deletion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000015811] Chr19:7131614..7132839 [GRCh38]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000015812]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV002496377] Chr19:7125482 [GRCh38]
Chr19:7125493 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_000208.4(INSR):c.172G>A (p.Gly58Arg) single nucleotide variant Leprechaunism syndrome [RCV000015814] Chr19:7267825 [GRCh38]
Chr19:7267836 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.3572G>A (p.Arg1191Gln) single nucleotide variant Type 2 diabetes mellitus [RCV000015815] Chr19:7120707 [GRCh38]
Chr19:7120718 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.1195C>T (p.Arg399Ter) single nucleotide variant Leprechaunism syndrome [RCV000015816]|not provided [RCV000520627] Chr19:7172363 [GRCh38]
Chr19:7172374 [GRCh37]
Chr19:19p13.2		 pathogenic|uncertain significance
NM_000208.4(INSR):c.164T>C (p.Val55Ala) single nucleotide variant Leprechaunism syndrome [RCV000015817] Chr19:7267833 [GRCh38]
Chr19:7267844 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.338G>C (p.Arg113Pro) single nucleotide variant Leprechaunism syndrome [RCV000015818] Chr19:7267659 [GRCh38]
Chr19:7267670 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.3485C>A (p.Ala1162Glu) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000015819] Chr19:7122658 [GRCh38]
Chr19:7122669 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.442A>T (p.Lys148Ter) single nucleotide variant Leprechaunism syndrome [RCV000015820] Chr19:7267555 [GRCh38]
Chr19:7267566 [GRCh37]
Chr19:19p13.2		 pathogenic
NC_000019.10:g.(?_7112255)_(7249328_?)del deletion Leprechaunism syndrome [RCV000015821] Chr19:7112255..7249328 [GRCh38]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) single nucleotide variant Bailey-Bloch congenital myopathy [RCV001258250]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000344820]|Leprechaunism syndrome [RCV001132183]|Monogenic diabetes [RCV000445519]|Rabson-Mendenhall syndrome [RCV001132184]|Type 2 diabetes mellitus [RCV000015822]|not provided [RCV000515071]|not specified [RCV000175131] Chr19:7125507 [GRCh38]
Chr19:7125518 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV000125461]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000015823]|not provided [RCV001818162] Chr19:7120677 [GRCh38]
Chr19:7120688 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.3540G>A (p.Met1180Ile) single nucleotide variant Insulin resistance [RCV000015824]|not provided [RCV001851881] Chr19:7120739 [GRCh38]
Chr19:7120750 [GRCh37]
Chr19:19p13.2		 pathogenic|uncertain significance
NM_000208.4(INSR):c.1316G>C (p.Trp439Ser) single nucleotide variant Leprechaunism syndrome [RCV000015825] Chr19:7170704 [GRCh38]
Chr19:7170715 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.438C>G (p.Ile146Met) single nucleotide variant Leprechaunism syndrome [RCV000015826] Chr19:7267559 [GRCh38]
Chr19:7267570 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.1124-2A>G single nucleotide variant Rabson-Mendenhall syndrome [RCV000015827] Chr19:7172436 [GRCh38]
Chr19:7172447 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.2480_2487del (p.Gln827fs) deletion Rabson-Mendenhall syndrome [RCV000015828] Chr19:7142871..7142878 [GRCh38]
Chr19:7142882..7142889 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.1372A>G (p.Asn458Asp) single nucleotide variant Leprechaunism syndrome [RCV000015829] Chr19:7170648 [GRCh38]
Chr19:7170659 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.3863A>G (p.Asn1288Ser) single nucleotide variant not provided [RCV000727925] Chr19:7117342 [GRCh38]
Chr19:7117353 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.101-1G>A single nucleotide variant not provided [RCV000722765] Chr19:7267897 [GRCh38]
Chr19:7267908 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.307T>C (p.Phe103Leu) single nucleotide variant not provided [RCV000722890] Chr19:7267690 [GRCh38]
Chr19:7267701 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2384_2387dup (p.Pro797fs) duplication not provided [RCV000723193] Chr19:7142970..7142971 [GRCh38]
Chr19:7142981..7142982 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1810C>T (p.Arg604Trp) single nucleotide variant Leprechaunism syndrome [RCV001197289]|not provided [RCV000728382] Chr19:7166205 [GRCh38]
Chr19:7166216 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.653-9T>C single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001130842]|Leprechaunism syndrome [RCV001130841]|Rabson-Mendenhall syndrome [RCV001130843]|not provided [RCV000727638] Chr19:7184646 [GRCh38]
Chr19:7184657 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000208.2(INSR):c.1862-83C>A single nucleotide variant Lung cancer [RCV000101344] Chr19:7163282 [GRCh38]
Chr19:7163293 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.2(INSR):c.652+12233G>A single nucleotide variant Lung cancer [RCV000101345] Chr19:7255112 [GRCh38]
Chr19:7255123 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.5C>G (p.Ala2Gly) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000375797]|Leprechaunism syndrome [RCV000261376]|Rabson-Mendenhall syndrome [RCV000318884]|not provided [RCV001538633]|not specified [RCV000173085] Chr19:7293887 [GRCh38]
Chr19:7293898 [GRCh37]
Chr19:19p13.2		 benign
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
NM_000208.4(INSR):c.2193G>A (p.Thr731=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884373]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000405596]|Leprechaunism syndrome [RCV000367262]|Rabson-Mendenhall syndrome [RCV000310286]|not provided [RCV000893168]|not specified [RCV000173658] Chr19:7152764 [GRCh38]
Chr19:7152775 [GRCh37]
Chr19:19p13.2		 benign|likely benign
GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3 copy number gain See cases [RCV000054108] Chr19:7194917..7827432 [GRCh38]
Chr19:7194928..7892318 [GRCh37]
Chr19:7145928..7798318 [NCBI36]
Chr19:19p13.2		 uncertain significance
NM_000208.2(INSR):c.3912C>T (p.Phe1304=) single nucleotide variant Malignant melanoma [RCV000072442] Chr19:7117293 [GRCh38]
Chr19:7117304 [GRCh37]
Chr19:7068304 [NCBI36]
Chr19:19p13.2		 not provided
NM_000208.2(INSR):c.1937C>T (p.Ser646Phe) single nucleotide variant Malignant melanoma [RCV000072443] Chr19:7163124 [GRCh38]
Chr19:7163135 [GRCh37]
Chr19:7114135 [NCBI36]
Chr19:19p13.2		 not provided
NM_000208.2(INSR):c.497C>T (p.Ser166Phe) single nucleotide variant Malignant melanoma [RCV000072445] Chr19:7267500 [GRCh38]
Chr19:7267511 [GRCh37]
Chr19:7218511 [NCBI36]
Chr19:19p13.2		 not provided
NM_000208.2(INSR):c.482C>T (p.Ser161Phe) single nucleotide variant Malignant melanoma [RCV000063664] Chr19:7267515 [GRCh38]
Chr19:7267526 [GRCh37]
Chr19:7218526 [NCBI36]
Chr19:19p13.2		 not provided
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) single nucleotide variant Inborn genetic diseases [RCV002530623]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000765480]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001129802]|Leprechaunism syndrome [RCV001129803]|Monogenic diabetes [RCV000664155]|Rabson-Mendenhall syndrome [RCV001129804]|not provided [RCV002060806] Chr19:7142970 [GRCh38]
Chr19:7142981 [GRCh37]
Chr19:19p13.2		 benign|likely benign|uncertain significance
NM_000208.4(INSR):c.3255C>T (p.His1085=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000373687]|Leprechaunism syndrome [RCV000333104]|Rabson-Mendenhall syndrome [RCV000278910]|not provided [RCV001668335]|not specified [RCV000175129] Chr19:7125286 [GRCh38]
Chr19:7125297 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.653-23TC[9] microsatellite Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV002500495]|not provided [RCV001610490]|not specified [RCV000177018] Chr19:7184641..7184642 [GRCh38]
Chr19:7184652..7184653 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1650G>A (p.Ala550=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000393623]|Leprechaunism syndrome [RCV000290514]|Rabson-Mendenhall syndrome [RCV000347847]|not provided [RCV001721128]|not specified [RCV000180111] Chr19:7166365 [GRCh38]
Chr19:7166376 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV001329695]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000284948]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV002485134]|Leprechaunism syndrome [RCV000338672]|Rabson-Mendenhall syndrome [RCV000391259]|not provided [RCV000175130] Chr19:7125348 [GRCh38]
Chr19:7125359 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.190T>C (p.Leu64=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884376]|INSR-related disorder [RCV004539629]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000285456]|Leprechaunism syndrome [RCV000342749]|Rabson-Mendenhall syndrome [RCV000408261]|not provided [RCV000724825]|not specified [RCV000175554] Chr19:7267807 [GRCh38]
Chr19:7267818 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV002272170]|INSR-related disorder [RCV004541243]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000990140]|Monogenic diabetes [RCV000664154]|not provided [RCV000883525]|not specified [RCV000192459] Chr19:7126626 [GRCh38]
Chr19:7126637 [GRCh37]
Chr19:19p13.2		 benign|likely benign|uncertain significance
NM_000208.4(INSR):c.687C>T (p.Thr229=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884390]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000266978]|Leprechaunism syndrome [RCV000305759]|Rabson-Mendenhall syndrome [RCV000359250]|not provided [RCV000878988]|not specified [RCV000192695] Chr19:7184603 [GRCh38]
Chr19:7184614 [GRCh37]
Chr19:19p13.2		 benign|likely benign|uncertain significance
NM_000208.4(INSR):c.1084G>A (p.Val362Ile) single nucleotide variant Inborn genetic diseases [RCV002517085]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001133677]|Leprechaunism syndrome [RCV001130721]|Rabson-Mendenhall syndrome [RCV001133676]|not provided [RCV000725676]|not specified [RCV000193067] Chr19:7174622 [GRCh38]
Chr19:7174633 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2293G>A (p.Gly765Ser) single nucleotide variant Inborn genetic diseases [RCV004020319]|not specified [RCV000193115] Chr19:7143065 [GRCh38]
Chr19:7143076 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.959C>T (p.Thr320Met) single nucleotide variant INSR-related disorder [RCV004530122]|not provided [RCV000725826]|not specified [RCV000192986] Chr19:7184331 [GRCh38]
Chr19:7184342 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000208.4(INSR):c.2736G>A (p.Arg912=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884389]|INSR-related disorder [RCV004541242]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001132297]|Leprechaunism syndrome [RCV001132298]|Rabson-Mendenhall syndrome [RCV001132299]|not provided [RCV000733051]|not specified [RCV000193783] Chr19:7132264 [GRCh38]
Chr19:7132275 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000208.4(INSR):c.2355G>A (p.Ser785=) single nucleotide variant not provided [RCV000914655]|not specified [RCV000194326] Chr19:7143003 [GRCh38]
Chr19:7143014 [GRCh37]
Chr19:19p13.2		 benign|likely benign|uncertain significance
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) single nucleotide variant INSR-related disorder [RCV004530121]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000286740]|Leprechaunism syndrome [RCV000382385]|Monogenic diabetes [RCV000445398]|Rabson-Mendenhall syndrome [RCV000341695]|not provided [RCV000725784]|not specified [RCV000194649] Chr19:7132162 [GRCh38]
Chr19:7132173 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000208.4(INSR):c.84C>A (p.His28Gln) single nucleotide variant not specified [RCV000194753] Chr19:7293808 [GRCh38]
Chr19:7293819 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1179G>A (p.Gly393=) single nucleotide variant not provided [RCV000178735] Chr19:7172379 [GRCh38]
Chr19:7172390 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000208.4(INSR):c.653-23TC[11] microsatellite Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000328745]|Leprechaunism syndrome [RCV000271370]|Rabson-Mendenhall syndrome [RCV000363699]|not provided [RCV001572815]|not specified [RCV000194846] Chr19:7184640..7184641 [GRCh38]
Chr19:7184651..7184652 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.1080C>T (p.Cys360=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884388]|INSR-related disorder [RCV004530119]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000326062]|Leprechaunism syndrome [RCV000383106]|Rabson-Mendenhall syndrome [RCV000291080]|not provided [RCV000963019]|not specified [RCV000195237] Chr19:7174626 [GRCh38]
Chr19:7174637 [GRCh37]
Chr19:19p13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000208.4(INSR):c.1284T>C (p.Tyr428=) single nucleotide variant not provided [RCV000179275] Chr19:7170736 [GRCh38]
Chr19:7170747 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) single nucleotide variant INSR-related disorder [RCV004530120]|Inborn genetic diseases [RCV002517086]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000391048]|Leprechaunism syndrome [RCV000306720]|Monogenic diabetes [RCV000664156]|Rabson-Mendenhall syndrome [RCV000363783]|not provided [RCV000725945]|not specified [RCV000192643] Chr19:7150521 [GRCh38]
Chr19:7150532 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000208.4(INSR):c.2598C>T (p.Val866=) single nucleotide variant not provided [RCV002056991]|not specified [RCV000192538] Chr19:7141761 [GRCh38]
Chr19:7141772 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.1610+2T>C single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV000194300] Chr19:7167966 [GRCh38]
Chr19:7167977 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.3601C>T (p.Arg1201Trp) single nucleotide variant Insulin resistance [RCV000755004] Chr19:7120678 [GRCh38]
Chr19:7120689 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.41T>C (p.Leu14Pro) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884445]|Inborn genetic diseases [RCV002518075]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000408260]|Leprechaunism syndrome [RCV000365243]|Monogenic diabetes [RCV000664158]|Rabson-Mendenhall syndrome [RCV000308234]|not provided [RCV000726299] Chr19:7293851 [GRCh38]
Chr19:7293862 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance
NM_000208.4(INSR):c.394G>A (p.Gly132Ser) single nucleotide variant Rabson-Mendenhall syndrome [RCV000240670] Chr19:7267603 [GRCh38]
Chr19:7267614 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.*2820G>A AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000265364]|Leprechaunism syndrome [RCV000384292]|Rabson-Mendenhall syndrome [RCV000320516] Chr19:7114236 [GRCh38]
Chr19:7114247 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.*394del deletion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000305532]|Leprechaunism syndrome [RCV000358007]|Rabson-Mendenhall syndrome [RCV000265490] Chr19:7116662 [GRCh38]
Chr19:7116673 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.*2565C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000297967]|Leprechaunism syndrome [RCV000362107]|Rabson-Mendenhall syndrome [RCV000267437] Chr19:7114491 [GRCh38]
Chr19:7114502 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2370G>A (p.Thr790=) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000363379]|Leprechaunism syndrome [RCV000328500]|Rabson-Mendenhall syndrome [RCV000268776]|not provided [RCV000883526] Chr19:7142988 [GRCh38]
Chr19:7142999 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.4028G>A (p.Arg1343Gln) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000287779]|Leprechaunism syndrome [RCV000383396]|Rabson-Mendenhall syndrome [RCV000328762]|not provided [RCV004694459] Chr19:7117177 [GRCh38]
Chr19:7117188 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*4760G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000333561]|Leprechaunism syndrome [RCV000289283]|Rabson-Mendenhall syndrome [RCV000388306] Chr19:7112296 [GRCh38]
Chr19:7112307 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.*1870C>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000344605]|Leprechaunism syndrome [RCV000289689]|Rabson-Mendenhall syndrome [RCV000389780] Chr19:7115186 [GRCh38]
Chr19:7115197 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.*2793C>A AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000380684]|Leprechaunism syndrome [RCV000344787]|Rabson-Mendenhall syndrome [RCV000289991] Chr19:7114263 [GRCh38]
Chr19:7114274 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.3(INSR):c.*4794T>C single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000273827]|Leprechaunism syndrome [RCV000368262]|Rabson-Mendenhall syndrome [RCV000318205] Chr19:7112262 [GRCh38]
Chr19:7112273 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2295C>T (p.Gly765=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884484]|INSR-related disorder [RCV004734978]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000274691]|Leprechaunism syndrome [RCV000329846]|Rabson-Mendenhall syndrome [RCV000364627]|not provided [RCV000892971]|not specified [RCV000501683] Chr19:7143063 [GRCh38]
Chr19:7143074 [GRCh37]
Chr19:19p13.2		 benign|likely benign|uncertain significance
NM_000208.4(INSR):c.2007C>T (p.Phe669=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000274936]|Leprechaunism syndrome [RCV000370329]|Rabson-Mendenhall syndrome [RCV000332413]|not provided [RCV001812867] Chr19:7163054 [GRCh38]
Chr19:7163065 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*4422G>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000307297]|Leprechaunism syndrome [RCV000367915]|Rabson-Mendenhall syndrome [RCV000275766]|not provided [RCV004717332] Chr19:7112634 [GRCh38]
Chr19:7112645 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*784C>G AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000259352]|Leprechaunism syndrome [RCV000316958]|Rabson-Mendenhall syndrome [RCV000360026]|not provided [RCV004717340] Chr19:7116272 [GRCh38]
Chr19:7116283 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*2318G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000362645]|Leprechaunism syndrome [RCV000277328]|Rabson-Mendenhall syndrome [RCV000332479]|not provided [RCV003418043] Chr19:7114738 [GRCh38]
Chr19:7114749 [GRCh37]
Chr19:19p13.2		 benign|likely benign|uncertain significance
NM_000208.4(INSR):c.909G>A (p.Gln303=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884486]|INSR-related disorder [RCV004544600]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000386641]|Leprechaunism syndrome [RCV000348390]|Rabson-Mendenhall syndrome [RCV000295430]|not provided [RCV000882297]|not specified [RCV001821001] Chr19:7184381 [GRCh38]
Chr19:7184392 [GRCh37]
Chr19:19p13.2		 benign|likely benign|uncertain significance
NM_000208.4(INSR):c.*1799C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000406019]|Leprechaunism syndrome [RCV000295505]|Rabson-Mendenhall syndrome [RCV000350293] Chr19:7115257 [GRCh38]
Chr19:7115268 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.*3877T>C single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000375430]|Leprechaunism syndrome [RCV000260863]|Rabson-Mendenhall syndrome [RCV000318432] Chr19:7113179 [GRCh38]
Chr19:7113190 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.*104A>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000357012]|Leprechaunism syndrome [RCV000297534]|Rabson-Mendenhall syndrome [RCV000397487]|not provided [RCV001718694] Chr19:7116952 [GRCh38]
Chr19:7116963 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*3365C>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000299809]|Leprechaunism syndrome [RCV000394815]|Rabson-Mendenhall syndrome [RCV000335357] Chr19:7113691 [GRCh38]
Chr19:7113702 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.262T>C (p.Leu88=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884488]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000339064]|Leprechaunism syndrome [RCV000281661]|Rabson-Mendenhall syndrome [RCV000373754]|not provided [RCV000972948]|not specified [RCV001002664] Chr19:7267735 [GRCh38]
Chr19:7267746 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.*2517A>G AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000269656]|Leprechaunism syndrome [RCV000382549]|Rabson-Mendenhall syndrome [RCV000327905] Chr19:7114539 [GRCh38]
Chr19:7114550 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*355_*356del deletion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000280672]|Leprechaunism syndrome [RCV000329610]|Rabson-Mendenhall syndrome [RCV000386697] Chr19:7116700..7116701 [GRCh38]
Chr19:7116711..7116712 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*1116G>A AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000268847]|Leprechaunism syndrome [RCV000365785]|Rabson-Mendenhall syndrome [RCV000307659] Chr19:7115940 [GRCh38]
Chr19:7115951 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3383G>A (p.Arg1128His) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000360787]|Leprechaunism syndrome [RCV000270583]|Rabson-Mendenhall syndrome [RCV000306015] Chr19:7122760 [GRCh38]
Chr19:7122771 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.*4195T>C single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000307653]|Leprechaunism syndrome [RCV000364597]|Rabson-Mendenhall syndrome [RCV000397170] Chr19:7112861 [GRCh38]
Chr19:7112872 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*2340A>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000365960]|Leprechaunism syndrome [RCV000307768]|Rabson-Mendenhall syndrome [RCV000394148]|not provided [RCV004717337] Chr19:7114716 [GRCh38]
Chr19:7114727 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.*1494G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000301737]|Leprechaunism syndrome [RCV000365726]|Rabson-Mendenhall syndrome [RCV000271381]|not provided [RCV004717339] Chr19:7115562 [GRCh38]
Chr19:7115573 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3370-12T>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000325621]|Leprechaunism syndrome [RCV000366231]|Rabson-Mendenhall syndrome [RCV000271604] Chr19:7122785 [GRCh38]
Chr19:7122796 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.*4186T>C AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000272374]|Leprechaunism syndrome [RCV000358785]|Rabson-Mendenhall syndrome [RCV000301605] Chr19:7112870 [GRCh38]
Chr19:7112881 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*2519G>A AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000272809]|Leprechaunism syndrome [RCV000358128]|Rabson-Mendenhall syndrome [RCV000303855] Chr19:7114537 [GRCh38]
Chr19:7114548 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.*3029T>C single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000320398]|Leprechaunism syndrome [RCV000364709]|Rabson-Mendenhall syndrome [RCV000272451]|not provided [RCV004717334] Chr19:7114027 [GRCh38]
Chr19:7114038 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.3033C>T (p.Tyr1011=) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000406627]|Leprechaunism syndrome [RCV000309901]|Rabson-Mendenhall syndrome [RCV000364693]|not provided [RCV002057545]|not specified [RCV000508108] Chr19:7125508 [GRCh38]
Chr19:7125519 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*3685T>C AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000396229]|Leprechaunism syndrome [RCV000310455]|Rabson-Mendenhall syndrome [RCV000339616] Chr19:7113371 [GRCh38]
Chr19:7113382 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.*2014C>T AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000397300]|Leprechaunism syndrome [RCV000311077]|Rabson-Mendenhall syndrome [RCV000357418] Chr19:7115042 [GRCh38]
Chr19:7115053 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.*224C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000368320]|Leprechaunism syndrome [RCV000311282]|Rabson-Mendenhall syndrome [RCV000402822]|not provided [RCV004717341] Chr19:7116832 [GRCh38]
Chr19:7116843 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.39G>C (p.Pro13=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884489]|INSR-related disorder [RCV004544601]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000311715]|Leprechaunism syndrome [RCV000403417]|Rabson-Mendenhall syndrome [RCV000368543]|not provided [RCV002057551] Chr19:7293853 [GRCh38]
Chr19:7293864 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.*349_*355dup duplication Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000362709]|Leprechaunism syndrome [RCV000314413]|Rabson-Mendenhall syndrome [RCV000270950] Chr19:7116700..7116701 [GRCh38]
Chr19:7116711..7116712 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.653-23TC[12] microsatellite Inborn genetic diseases [RCV002523078]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000275024]|Leprechaunism syndrome [RCV000332502]|Rabson-Mendenhall syndrome [RCV000385589]|not provided [RCV001573449]|not specified [RCV001726124] Chr19:7184640..7184641 [GRCh38]
Chr19:7184651..7184652 [GRCh37]
Chr19:19p13.2		 benign|likely benign|uncertain significance
NM_000208.4(INSR):c.2946-14T>C AND Insulin-resistant diabetes mellitus single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884481]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000370588]|Leprechaunism syndrome [RCV000311227]|Rabson-Mendenhall syndrome [RCV000274753]|not provided [RCV001812866] Chr19:7126665 [GRCh38]
Chr19:7126676 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.2682+9C>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000348676]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV002504114]|Leprechaunism syndrome [RCV000312551]|Rabson-Mendenhall syndrome [RCV000402795]|not provided [RCV000889379] Chr19:7141668 [GRCh38]
Chr19:7141679 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.1638C>T (p.Asp546=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000312658]|Leprechaunism syndrome [RCV000351255]|Rabson-Mendenhall syndrome [RCV000406047]|not provided [RCV001706540]|not specified [RCV000455614] Chr19:7166377 [GRCh38]
Chr19:7166388 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*3359G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000357096]|Leprechaunism syndrome [RCV000312806]|Rabson-Mendenhall syndrome [RCV000393192]|not provided [RCV004703811] Chr19:7113697 [GRCh38]
Chr19:7113708 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.*352_*355dup duplication Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000337917]|Leprechaunism syndrome [RCV000280126]|Rabson-Mendenhall syndrome [RCV000371602] Chr19:7116700..7116701 [GRCh38]
Chr19:7116711..7116712 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*930dup duplication Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000284982]|Leprechaunism syndrome [RCV000377088]|Rabson-Mendenhall syndrome [RCV000346999] Chr19:7116125..7116126 [GRCh38]
Chr19:7116136..7116137 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*973dup duplication Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000286101]|Leprechaunism syndrome [RCV000373566]|Rabson-Mendenhall syndrome [RCV000324768] Chr19:7116082..7116083 [GRCh38]
Chr19:7116093..7116094 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*2456C>T AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000390674]|Leprechaunism syndrome [RCV000335646]|Rabson-Mendenhall syndrome [RCV000286303] Chr19:7114600 [GRCh38]
Chr19:7114611 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.*4719dup AND Insulin-resistant diabetes mellitus duplication Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000340807]|Leprechaunism syndrome [RCV000401919]|Rabson-Mendenhall syndrome [RCV000287136] Chr19:7112336..7112337 [GRCh38]
Chr19:7112347..7112348 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*2145_*2146dup duplication Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000405681]|Leprechaunism syndrome [RCV000289911]|Rabson-Mendenhall syndrome [RCV000345006]|not provided [RCV004694458] Chr19:7114909..7114910 [GRCh38]
Chr19:7114920..7114921 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*4379C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000329557]|Leprechaunism syndrome [RCV000272127]|Rabson-Mendenhall syndrome [RCV000364267] Chr19:7112677 [GRCh38]
Chr19:7112688 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*3592A>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000329807]|Leprechaunism syndrome [RCV000275699]|Rabson-Mendenhall syndrome [RCV000368007] Chr19:7113464 [GRCh38]
Chr19:7113475 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*1089A>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000329815]|Leprechaunism syndrome [RCV000277159]|Rabson-Mendenhall syndrome [RCV000369375] Chr19:7115967 [GRCh38]
Chr19:7115978 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.*1432C>T AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000277258]|Leprechaunism syndrome [RCV000326486]|Rabson-Mendenhall syndrome [RCV000380991] Chr19:7115624 [GRCh38]
Chr19:7115635 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.*2160G>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000324203]|Leprechaunism syndrome [RCV000278462]|Rabson-Mendenhall syndrome [RCV000373233] Chr19:7114896 [GRCh38]
Chr19:7114907 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.*1192G>A AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000278542]|Leprechaunism syndrome [RCV000338332]|Rabson-Mendenhall syndrome [RCV000374310] Chr19:7115864 [GRCh38]
Chr19:7115875 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.*4218G>C single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000352560]|Leprechaunism syndrome [RCV000314065]|Rabson-Mendenhall syndrome [RCV000397113] Chr19:7112838 [GRCh38]
Chr19:7112849 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.618C>T (p.Val206=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884487]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000389249]|Leprechaunism syndrome [RCV000278561]|Rabson-Mendenhall syndrome [RCV000316812]|not provided [RCV000883527]|not specified [RCV001821002] Chr19:7267379 [GRCh38]
Chr19:7267390 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.*3298C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000325773]|Leprechaunism syndrome [RCV000277804]|Rabson-Mendenhall syndrome [RCV000369899] Chr19:7113758 [GRCh38]
Chr19:7113769 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.*3009del deletion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000279334]|Leprechaunism syndrome [RCV000371530]|Rabson-Mendenhall syndrome [RCV000337046] Chr19:7114047 [GRCh38]
Chr19:7114058 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2526G>C (p.Ala842=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000280326]|Leprechaunism syndrome [RCV000406841]|Rabson-Mendenhall syndrome [RCV000352773]|not provided [RCV002057548] Chr19:7142832 [GRCh38]
Chr19:7142843 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.*2464C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000329837]|Leprechaunism syndrome [RCV000280646]|Rabson-Mendenhall syndrome [RCV000375122] Chr19:7114592 [GRCh38]
Chr19:7114603 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.*348_*355dup duplication Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000310363]|Leprechaunism syndrome [RCV000302544]|Rabson-Mendenhall syndrome [RCV000341109] Chr19:7116700..7116701 [GRCh38]
Chr19:7116711..7116712 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3158G>A (p.Arg1053His) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV005016668]|not provided [RCV000311042]|not specified [RCV001820810] Chr19:7125383 [GRCh38]
Chr19:7125394 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2268-3C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000338420]|Leprechaunism syndrome [RCV000373350]|Rabson-Mendenhall syndrome [RCV000281148] Chr19:7143093 [GRCh38]
Chr19:7143104 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1918C>T (p.Leu640=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000320421]|Leprechaunism syndrome [RCV000377437]|Rabson-Mendenhall syndrome [RCV000281746]|not provided [RCV001618582] Chr19:7163143 [GRCh38]
Chr19:7163154 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*4270G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000349009]|Leprechaunism syndrome [RCV000282233]|Rabson-Mendenhall syndrome [RCV000374301] Chr19:7112786 [GRCh38]
Chr19:7112797 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.-12G>C single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000283647]|Leprechaunism syndrome [RCV000379505]|Rabson-Mendenhall syndrome [RCV000322528] Chr19:7293903 [GRCh38]
Chr19:7293914 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.*3463A>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000328345]|Leprechaunism syndrome [RCV000283600]|Rabson-Mendenhall syndrome [RCV000385195] Chr19:7113593 [GRCh38]
Chr19:7113604 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.*289del deletion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000316595]|Leprechaunism syndrome [RCV000263708]|Rabson-Mendenhall syndrome [RCV000374599] Chr19:7116767 [GRCh38]
Chr19:7116778 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*334del deletion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000371252]|Leprechaunism syndrome [RCV000274459]|Rabson-Mendenhall syndrome [RCV000331680] Chr19:7116722 [GRCh38]
Chr19:7116733 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*1171C>T AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000339367]|Leprechaunism syndrome [RCV000308951]|Rabson-Mendenhall syndrome [RCV000405216] Chr19:7115885 [GRCh38]
Chr19:7115896 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2245G>A (p.Gly749Ser) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000341914]|Leprechaunism syndrome [RCV000391057]|Rabson-Mendenhall syndrome [RCV000284597]|See cases [RCV003231442] Chr19:7150519 [GRCh38]
Chr19:7150530 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.1862-4A>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000344430]|Leprechaunism syndrome [RCV000285399]|Rabson-Mendenhall syndrome [RCV000382648]|not provided [RCV001653603] Chr19:7163203 [GRCh38]
Chr19:7163214 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*288del AND Insulin-resistant diabetes mellitus deletion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000338986]|Leprechaunism syndrome [RCV000290009]|Rabson-Mendenhall syndrome [RCV000286344]|not provided [RCV001672558] Chr19:7116768 [GRCh38]
Chr19:7116779 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1433G>A (p.Arg478His) single nucleotide variant not provided [RCV000316624] Chr19:7170587 [GRCh38]
Chr19:7170598 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2718T>C (p.Ala906=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884482]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000393488]|Leprechaunism syndrome [RCV000347368]|Rabson-Mendenhall syndrome [RCV000288002]|not provided [RCV000952778] Chr19:7132282 [GRCh38]
Chr19:7132293 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.*1967G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000383599]|Leprechaunism syndrome [RCV000329005]|Rabson-Mendenhall syndrome [RCV000265082] Chr19:7115089 [GRCh38]
Chr19:7115100 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.14G>A (p.Gly5Asp) AND Insulin-resistant diabetes mellitus single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884490]|Inborn genetic diseases [RCV004984827]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000276320]|Leprechaunism syndrome [RCV000333796]|Rabson-Mendenhall syndrome [RCV000353606]|not specified [RCV001821003] Chr19:7293878 [GRCh38]
Chr19:7293889 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*4474C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000398125]|Leprechaunism syndrome [RCV000311008]|Rabson-Mendenhall syndrome [RCV000355368]|not provided [RCV004717331] Chr19:7112582 [GRCh38]
Chr19:7112593 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*3541C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000333247]|Leprechaunism syndrome [RCV000289618]|Rabson-Mendenhall syndrome [RCV000380752] Chr19:7113515 [GRCh38]
Chr19:7113526 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.2572A>G (p.Thr858Ala) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000291653]|Leprechaunism syndrome [RCV000381420]|Rabson-Mendenhall syndrome [RCV000326820] Chr19:7141787 [GRCh38]
Chr19:7141798 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.151G>A (p.Glu51Lys) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000990143]|not provided [RCV000725827]|not specified [RCV000322056] Chr19:7267846 [GRCh38]
Chr19:7267857 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000208.4(INSR):c.*1525G>A AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000265365]|Leprechaunism syndrome [RCV000305360]|Rabson-Mendenhall syndrome [RCV000359831] Chr19:7115531 [GRCh38]
Chr19:7115542 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2933T>A (p.Phe978Tyr) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000276461]|Leprechaunism syndrome [RCV000372115]|Rabson-Mendenhall syndrome [RCV000317517]|not provided [RCV003765910] Chr19:7128864 [GRCh38]
Chr19:7128875 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*356_*357del deletion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000326227]|Leprechaunism syndrome [RCV000276896]|Rabson-Mendenhall syndrome [RCV000387806] Chr19:7116699..7116700 [GRCh38]
Chr19:7116710..7116711 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*501T>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000404432]|Leprechaunism syndrome [RCV000292582]|Rabson-Mendenhall syndrome [RCV000349886] Chr19:7116555 [GRCh38]
Chr19:7116566 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.*1416del deletion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000292651]|Leprechaunism syndrome [RCV000332408]|Rabson-Mendenhall syndrome [RCV000386880] Chr19:7115640 [GRCh38]
Chr19:7115651 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*3857C>T AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000388086]|Leprechaunism syndrome [RCV000349920]|Rabson-Mendenhall syndrome [RCV000292689] Chr19:7113199 [GRCh38]
Chr19:7113210 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2542+3A>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000346593]|Leprechaunism syndrome [RCV000387025]|Rabson-Mendenhall syndrome [RCV000292833]|not provided [RCV002057547] Chr19:7142813 [GRCh38]
Chr19:7142824 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.*2502A>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000294211]|Leprechaunism syndrome [RCV000388534]|Rabson-Mendenhall syndrome [RCV000334061] Chr19:7114554 [GRCh38]
Chr19:7114565 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.*4374G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000323615]|Leprechaunism syndrome [RCV000266263]|Rabson-Mendenhall syndrome [RCV000376920] Chr19:7112682 [GRCh38]
Chr19:7112693 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1932A>C (p.Pro644=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000316911]|Leprechaunism syndrome [RCV000259213]|Rabson-Mendenhall syndrome [RCV000373828]|not provided [RCV001653602] Chr19:7163129 [GRCh38]
Chr19:7163140 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2643C>T (p.Ile881=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884483]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000259282]|Leprechaunism syndrome [RCV000313352]|Rabson-Mendenhall syndrome [RCV000354062]|not provided [RCV002057546] Chr19:7141716 [GRCh38]
Chr19:7141727 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.3795-5C>T AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000407102]|Leprechaunism syndrome [RCV000293459]|Rabson-Mendenhall syndrome [RCV000348313]|not provided [RCV002057543] Chr19:7117415 [GRCh38]
Chr19:7117426 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3669C>T (p.Gly1223=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000294545]|Leprechaunism syndrome [RCV000404693]|Rabson-Mendenhall syndrome [RCV000335645] Chr19:7119574 [GRCh38]
Chr19:7119585 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*2779G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000350686]|Leprechaunism syndrome [RCV000404280]|Rabson-Mendenhall syndrome [RCV000295734]|not provided [RCV004717336] Chr19:7114277 [GRCh38]
Chr19:7114288 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2280A>G (p.Lys760=) single nucleotide variant INSR-related disorder [RCV004537836]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000389081]|Leprechaunism syndrome [RCV000296507]|Rabson-Mendenhall syndrome [RCV000316404] Chr19:7143078 [GRCh38]
Chr19:7143089 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.3370-15G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000296665]|Leprechaunism syndrome [RCV000386397]|Rabson-Mendenhall syndrome [RCV000331393]|not provided [RCV002057544] Chr19:7122788 [GRCh38]
Chr19:7122799 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.169G>A (p.Glu57Lys) single nucleotide variant not provided [RCV000326627] Chr19:7267828 [GRCh38]
Chr19:7267839 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) single nucleotide variant INSR-related disorder [RCV004535276]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000765478]|not provided [RCV000361037] Chr19:7141694 [GRCh38]
Chr19:7141705 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000208.4(INSR):c.*2853T>C single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000378648]|Leprechaunism syndrome [RCV000259573]|Rabson-Mendenhall syndrome [RCV000324104] Chr19:7114203 [GRCh38]
Chr19:7114214 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*999A>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000368127]|Leprechaunism syndrome [RCV000316552]|Rabson-Mendenhall syndrome [RCV000261754] Chr19:7116057 [GRCh38]
Chr19:7116068 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*2010G>A AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000262572]|Leprechaunism syndrome [RCV000317649]|Rabson-Mendenhall syndrome [RCV000353795]|not provided [RCV004717338] Chr19:7115046 [GRCh38]
Chr19:7115057 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*4602C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000298213]|Leprechaunism syndrome [RCV000342142]|Rabson-Mendenhall syndrome [RCV000398140] Chr19:7112454 [GRCh38]
Chr19:7112465 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.2970G>A (p.Pro990=) single nucleotide variant not provided [RCV000398686]|not specified [RCV001820809] Chr19:7126627 [GRCh38]
Chr19:7126638 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000208.4(INSR):c.*4349C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000336132]|Leprechaunism syndrome [RCV000278696]|Rabson-Mendenhall syndrome [RCV000380518] Chr19:7112707 [GRCh38]
Chr19:7112718 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*3623A>G AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000262896]|Leprechaunism syndrome [RCV000298288]|Rabson-Mendenhall syndrome [RCV000355417]|not provided [RCV004717333] Chr19:7113433 [GRCh38]
Chr19:7113444 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*12G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000358054]|Leprechaunism syndrome [RCV000321967]|Rabson-Mendenhall syndrome [RCV000262194] Chr19:7117044 [GRCh38]
Chr19:7117055 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.1628C>T (p.Thr543Met) single nucleotide variant Inborn genetic diseases [RCV003352840]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000355101]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV002502281]|Leprechaunism syndrome [RCV000297870]|Rabson-Mendenhall syndrome [RCV000262513] Chr19:7166387 [GRCh38]
Chr19:7166398 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*2255T>G AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000263349]|Leprechaunism syndrome [RCV000368429]|Rabson-Mendenhall syndrome [RCV000318529] Chr19:7114801 [GRCh38]
Chr19:7114812 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.2853G>A (p.Pro951=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000318490]|Leprechaunism syndrome [RCV000263460]|Rabson-Mendenhall syndrome [RCV000377833]|not provided [RCV003718198] Chr19:7128944 [GRCh38]
Chr19:7128955 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.*2854G>T AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000264599]|Leprechaunism syndrome [RCV000303410]|Rabson-Mendenhall syndrome [RCV000360541]|not provided [RCV004717335] Chr19:7114202 [GRCh38]
Chr19:7114202..7114203 [GRCh38]
Chr19:7114213 [GRCh37]
Chr19:7114213..7114214 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.783C>T (p.Asp261=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000406923]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV002502282]|Leprechaunism syndrome [RCV000352574]|Rabson-Mendenhall syndrome [RCV000298876]|not provided [RCV001812868]|not specified [RCV000506853] Chr19:7184507 [GRCh38]
Chr19:7184518 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.*498_*499insTT AND Insulin-resistant diabetes mellitus insertion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000395372]|Leprechaunism syndrome [RCV000354601]|Rabson-Mendenhall syndrome [RCV000300961] Chr19:7116557..7116558 [GRCh38]
Chr19:7116568..7116569 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2595C>T (p.Asn865=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000355369]|Leprechaunism syndrome [RCV000265366]|Rabson-Mendenhall syndrome [RCV000300575]|not provided [RCV001653601] Chr19:7141764 [GRCh38]
Chr19:7141764..7141765 [GRCh38]
Chr19:7141775 [GRCh37]
Chr19:7141775..7141776 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*3894G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000323837]|Leprechaunism syndrome [RCV000266421]|Rabson-Mendenhall syndrome [RCV000371898] Chr19:7113162 [GRCh38]
Chr19:7113173 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.1123+13G>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000358649]|Leprechaunism syndrome [RCV000266281]|Rabson-Mendenhall syndrome [RCV000301246]|not provided [RCV002057550]|not specified [RCV000506688] Chr19:7174570 [GRCh38]
Chr19:7174581 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.756C>T (p.Cys252=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000302168]|Leprechaunism syndrome [RCV000337335]|Rabson-Mendenhall syndrome [RCV000404313] Chr19:7184534 [GRCh38]
Chr19:7184545 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3111G>A (p.Val1037=) single nucleotide variant not provided [RCV000331718] Chr19:7125430 [GRCh38]
Chr19:7125441 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*613C>T AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000267487]|Leprechaunism syndrome [RCV000377436]|Rabson-Mendenhall syndrome [RCV000320499] Chr19:7116443 [GRCh38]
Chr19:7116454 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2573C>T (p.Thr858Met) single nucleotide variant Inborn genetic diseases [RCV002521258]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000380386]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV002504115]|Leprechaunism syndrome [RCV000267106]|Rabson-Mendenhall syndrome [RCV000320530]|not provided [RCV002521259]|not specified [RCV001820999] Chr19:7141786 [GRCh38]
Chr19:7141797 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.4082A>G (p.Tyr1361Cys) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000323071]|Leprechaunism syndrome [RCV000268051]|Rabson-Mendenhall syndrome [RCV000382182]|not provided [RCV003556347] Chr19:7117123 [GRCh38]
Chr19:7117134 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.*1974_*1975del AND Insulin-resistant diabetes mellitus deletion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000268543]|Leprechaunism syndrome [RCV000323570]|Rabson-Mendenhall syndrome [RCV000378338] Chr19:7115081..7115082 [GRCh38]
Chr19:7115092..7115093 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1098T>C (p.Ser366=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884485]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000268697]|Leprechaunism syndrome [RCV000323595]|Rabson-Mendenhall syndrome [RCV000380581]|not provided [RCV000966061]|not specified [RCV001821000] Chr19:7174608 [GRCh38]
Chr19:7174619 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.*3654G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000361761]|Leprechaunism syndrome [RCV000389950]|Rabson-Mendenhall syndrome [RCV000304691] Chr19:7113402 [GRCh38]
Chr19:7113413 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2448G>A (p.Thr816=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000359700]|Leprechaunism syndrome [RCV000403751]|Rabson-Mendenhall syndrome [RCV000303975]|not provided [RCV002057549] Chr19:7142910 [GRCh38]
Chr19:7142921 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.*1191T>C single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000305460]|Leprechaunism syndrome [RCV000335932]|Rabson-Mendenhall syndrome [RCV000402750] Chr19:7115865 [GRCh38]
Chr19:7115876 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.3165G>A (p.Ala1055=) single nucleotide variant not provided [RCV000266953] Chr19:7125376 [GRCh38]
Chr19:7125387 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000208.4(INSR):c.*358_*359insTTTTTT insertion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000366024]|Leprechaunism syndrome [RCV000269061]|Rabson-Mendenhall syndrome [RCV000308869] Chr19:7116697..7116698 [GRCh38]
Chr19:7116708..7116709 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884654]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000765479]|not provided [RCV000597551] Chr19:7142860 [GRCh38]
Chr19:7142871 [GRCh37]
Chr19:19p13.2		 uncertain risk allele|uncertain significance
NM_000208.4(INSR):c.2666G>A (p.Arg889Gln) single nucleotide variant not provided [RCV000594791] Chr19:7141693 [GRCh38]
Chr19:7141704 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*2136T>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000403719]|Leprechaunism syndrome [RCV000369154]|Rabson-Mendenhall syndrome [RCV000314450] Chr19:7114920 [GRCh38]
Chr19:7114931 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*926_*927insG AND Insulin-resistant diabetes mellitus insertion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000367721]|Leprechaunism syndrome [RCV000315470]|Rabson-Mendenhall syndrome [RCV000403463] Chr19:7116129..7116130 [GRCh38]
Chr19:7116140..7116141 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.10:g.7112254G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000395881]|Leprechaunism syndrome [RCV000313887]|Rabson-Mendenhall syndrome [RCV000370897]|not provided [RCV004717562] Chr19:7112254 [GRCh38]
Chr19:7112265 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*3008_*3009del AND Insulin-resistant diabetes mellitus deletion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000375377]|Leprechaunism syndrome [RCV000349709]|Rabson-Mendenhall syndrome [RCV000292462] Chr19:7114047..7114048 [GRCh38]
Chr19:7114058..7114059 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3054G>A (p.Val1018=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000303901]|Leprechaunism syndrome [RCV000406310]|Rabson-Mendenhall syndrome [RCV000339065] Chr19:7125487 [GRCh38]
Chr19:7125498 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*2149C>T AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000378717]|Leprechaunism syndrome [RCV000284190]|Rabson-Mendenhall syndrome [RCV000339266] Chr19:7114907 [GRCh38]
Chr19:7114918 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*3010del deletion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000323756]|Leprechaunism syndrome [RCV000285135]|Rabson-Mendenhall syndrome [RCV000377394] Chr19:7114046 [GRCh38]
Chr19:7114057 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*3693G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000296127]|Leprechaunism syndrome [RCV000345397]|Rabson-Mendenhall syndrome [RCV000405352] Chr19:7113363 [GRCh38]
Chr19:7113374 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*280G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000350892]|Leprechaunism syndrome [RCV000307638]|Rabson-Mendenhall syndrome [RCV000393629] Chr19:7116776 [GRCh38]
Chr19:7116787 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*3008del deletion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000315002]|Leprechaunism syndrome [RCV000309211]|Rabson-Mendenhall syndrome [RCV000344040]|not provided [RCV004694457] Chr19:7114048 [GRCh38]
Chr19:7114059 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*3390CAA[4] microsatellite Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000341217]|Leprechaunism syndrome [RCV000390819]|Rabson-Mendenhall syndrome [RCV000287254] Chr19:7113652..7113654 [GRCh38]
Chr19:7113663..7113665 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*1592G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000299381]|Leprechaunism syndrome [RCV000395369]|Rabson-Mendenhall syndrome [RCV000335605] Chr19:7115464 [GRCh38]
Chr19:7115475 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*927_*928insG insertion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000288574]|Leprechaunism syndrome [RCV000403789]|Rabson-Mendenhall syndrome [RCV000345834] Chr19:7116128..7116129 [GRCh38]
Chr19:7116139..7116140 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*511del deletion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000288915]|Leprechaunism syndrome [RCV000350966]|Rabson-Mendenhall syndrome [RCV000408425] Chr19:7116545 [GRCh38]
Chr19:7116556 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*853A>C single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000357362]|Leprechaunism syndrome [RCV000300191]|Rabson-Mendenhall syndrome [RCV000397725] Chr19:7116203 [GRCh38]
Chr19:7116214 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2471C>T (p.Ala824Val) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000404587]|Leprechaunism syndrome [RCV000335411]|Rabson-Mendenhall syndrome [RCV000300288] Chr19:7142887 [GRCh38]
Chr19:7142898 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3571C>T (p.Arg1191Trp) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000300617]|Leprechaunism syndrome [RCV000355431]|Rabson-Mendenhall syndrome [RCV000403287] Chr19:7120708 [GRCh38]
Chr19:7120719 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*541dup duplication Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000289926]|Leprechaunism syndrome [RCV000381060]|Rabson-Mendenhall syndrome [RCV000328580] Chr19:7116514..7116515 [GRCh38]
Chr19:7116525..7116526 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*2633del deletion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000301312]|Leprechaunism syndrome [RCV000337557]|Rabson-Mendenhall syndrome [RCV000396401] Chr19:7114423 [GRCh38]
Chr19:7114434 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*4736T>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000290541]|Leprechaunism syndrome [RCV000325490]|Rabson-Mendenhall syndrome [RCV000384744] Chr19:7112320 [GRCh38]
Chr19:7112331 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*2405A>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000341312]|Leprechaunism syndrome [RCV000301964]|Rabson-Mendenhall syndrome [RCV000394156] Chr19:7114651 [GRCh38]
Chr19:7114662 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.10:g.7112253C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000335394]|Leprechaunism syndrome [RCV000395871]|Rabson-Mendenhall syndrome [RCV000301523] Chr19:7112253 [GRCh38]
Chr19:7112264 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2030_2267+1del deletion Rabson-Mendenhall syndrome [RCV000578857] Chr19:7150496..7152927 [GRCh38]
Chr19:7150507..7152938 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.167T>C (p.Ile56Thr) single nucleotide variant Leprechaunism syndrome [RCV000599040] Chr19:7267830 [GRCh38]
Chr19:7267841 [GRCh37]
Chr19:19p13.2		 pathogenic|not provided
NM_000208.4(INSR):c.2929_2932del (p.Leu977fs) deletion not provided [RCV000599166] Chr19:7128865..7128868 [GRCh38]
Chr19:7128876..7128879 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.3003_3012delinsGGAAG (p.Ser1001fs) indel Leprechaunism syndrome [RCV000599407] Chr19:7126585..7126594 [GRCh38]
Chr19:7126596..7126605 [GRCh37]
Chr19:19p13.2		 pathogenic|not provided
NM_000208.4(INSR):c.350_353del (p.Asn117fs) deletion not provided [RCV000595164] Chr19:7267644..7267647 [GRCh38]
Chr19:7267655..7267658 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.408G>A (p.Leu136=) single nucleotide variant not provided [RCV000735125] Chr19:7267589 [GRCh38]
Chr19:7267600 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.653-9_653-7delinsC indel Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV002507293]|not specified [RCV000730034] Chr19:7184644..7184646 [GRCh38]
Chr19:7184655..7184657 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.2256C>G (p.Ala752=) single nucleotide variant not provided [RCV000734003] Chr19:7150508 [GRCh38]
Chr19:7150519 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000208.4(INSR):c.1665T>C (p.Ser555=) single nucleotide variant not provided [RCV000731562] Chr19:7166350 [GRCh38]
Chr19:7166361 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000208.4(INSR):c.2327C>T (p.Thr776Met) single nucleotide variant not provided [RCV000734264] Chr19:7143031 [GRCh38]
Chr19:7143042 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3042C>T (p.Asp1014=) single nucleotide variant INSR-related disorder [RCV004535881]|not provided [RCV000734946] Chr19:7125499 [GRCh38]
Chr19:7125510 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
GRCh37/hg19 19p13.2(chr19:7070526-7239042)x3 copy number gain See cases [RCV000446379] Chr19:7070526..7239042 [GRCh37]
Chr19:19p13.2		 likely benign
GRCh37/hg19 19p13.2(chr19:7129708-7296452)x1 copy number loss See cases [RCV000446518] Chr19:7129708..7296452 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2564G>A (p.Gly855Asp) single nucleotide variant Monogenic diabetes [RCV000445469] Chr19:7141795 [GRCh38]
Chr19:7141806 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3071C>T (p.Thr1024Ile) single nucleotide variant not provided [RCV000423108] Chr19:7125470 [GRCh38]
Chr19:7125481 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2275C>T (p.Arg759Trp) single nucleotide variant not provided [RCV000484795] Chr19:7143083 [GRCh38]
Chr19:7143094 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.653-5_653-4insTC insertion Rabson-Mendenhall syndrome [RCV003989542]|not specified [RCV000501484] Chr19:7184641..7184642 [GRCh38]
Chr19:7184652..7184653 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.870C>T (p.His290=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884577]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001135176]|Leprechaunism syndrome [RCV001135174]|Rabson-Mendenhall syndrome [RCV001135175]|not provided [RCV000965417]|not specified [RCV000503764] Chr19:7184420 [GRCh38]
Chr19:7184431 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884579]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000765477]|not provided [RCV001302076]|not specified [RCV000503966] Chr19:7119468 [GRCh38]
Chr19:7119479 [GRCh37]
Chr19:19p13.2		 uncertain risk allele|uncertain significance
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV002476006]|not provided [RCV001857113]|not specified [RCV000502540] Chr19:7122733 [GRCh38]
Chr19:7122744 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.653-7_653-6insTC insertion not specified [RCV000500449] Chr19:7184643..7184644 [GRCh38]
Chr19:7184654..7184655 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.225C>T (p.Asp75=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884578]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001130270]|Leprechaunism syndrome [RCV001130269]|Rabson-Mendenhall syndrome [RCV001130268]|not provided [RCV000923908]|not specified [RCV000500581] Chr19:7267772 [GRCh38]
Chr19:7267783 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.653-23TC[8] microsatellite not provided [RCV000879333]|not specified [RCV000500671] Chr19:7184641..7184644 [GRCh38]
Chr19:7184652..7184655 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.2117C>A (p.Ala706Asp) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001129887]|Leprechaunism syndrome [RCV001129889]|Rabson-Mendenhall syndrome [RCV001129888]|not provided [RCV002527259]|not specified [RCV000500908] Chr19:7152840 [GRCh38]
Chr19:7152851 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.1862-20A>G single nucleotide variant not provided [RCV001709659] Chr19:7163219 [GRCh38]
Chr19:7163230 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1610+23C>T single nucleotide variant not provided [RCV001712468]|not specified [RCV000508527] Chr19:7167945 [GRCh38]
Chr19:7167956 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1610+28A>C single nucleotide variant Leprechaunism syndrome [RCV001730697]|Rabson-Mendenhall syndrome [RCV001730698]|not provided [RCV001683541] Chr19:7167940 [GRCh38]
Chr19:7167951 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2843-5T>G single nucleotide variant not specified [RCV000506318] Chr19:7128959 [GRCh38]
Chr19:7128970 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3668G>A (p.Gly1223Asp) single nucleotide variant not specified [RCV000506622] Chr19:7119575 [GRCh38]
Chr19:7119586 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2231+20C>A single nucleotide variant not provided [RCV001683542]|not specified [RCV000506777] Chr19:7152706 [GRCh38]
Chr19:7152717 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1861+27C>T single nucleotide variant Leprechaunism syndrome [RCV001730699]|Rabson-Mendenhall syndrome [RCV001730700]|not provided [RCV001662510] Chr19:7166127 [GRCh38]
Chr19:7166127..7166128 [GRCh38]
Chr19:7166138 [GRCh37]
Chr19:7166138..7166139 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.421C>T (p.Arg141Trp) single nucleotide variant not specified [RCV000507254] Chr19:7267576 [GRCh38]
Chr19:7267587 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2842+33G>A single nucleotide variant not specified [RCV000507369] Chr19:7132125 [GRCh38]
Chr19:7132136 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1483+31T>C single nucleotide variant Leprechaunism syndrome [RCV001730695]|Rabson-Mendenhall syndrome [RCV001730696]|not provided [RCV001644566] Chr19:7170506 [GRCh38]
Chr19:7170517 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3259-31C>T single nucleotide variant not provided [RCV004717641]|not specified [RCV000508055] Chr19:7123020 [GRCh38]
Chr19:7123031 [GRCh37]
Chr19:19p13.2		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_000208.4(INSR):c.3805A>T (p.Met1269Leu) single nucleotide variant not provided [RCV000597937] Chr19:7117400 [GRCh38]
Chr19:7117411 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_000208.4(INSR):c.1741C>T (p.Arg581Trp) single nucleotide variant Monogenic diabetes [RCV000664157] Chr19:7166274 [GRCh38]
Chr19:7166285 [GRCh37]
Chr19:19p13.2		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_000208.4(INSR):c.2267+17C>T single nucleotide variant not provided [RCV001811569] Chr19:7150480 [GRCh38]
Chr19:7150491 [GRCh37]
Chr19:19p13.2		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.2(chr19:6951434-7120076)x3 copy number gain not provided [RCV000740023] Chr19:6951434..7120076 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3660-182GT[2] microsatellite not provided [RCV001681944] Chr19:7119760..7119761 [GRCh38]
Chr19:7119771..7119772 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3660-279TG[3] microsatellite not provided [RCV001665966] Chr19:7119855..7119856 [GRCh38]
Chr19:7119866..7119867 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3660-189C>T single nucleotide variant not provided [RCV001612324] Chr19:7119772 [GRCh38]
Chr19:7119783 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2843-121T>C single nucleotide variant not provided [RCV001667456] Chr19:7129075 [GRCh38]
Chr19:7129086 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2030-68T>G single nucleotide variant not provided [RCV001667186] Chr19:7152995 [GRCh38]
Chr19:7153006 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.936C>T (p.Ile312=) single nucleotide variant not provided [RCV000894267] Chr19:7184354 [GRCh38]
Chr19:7184365 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1484-108G>C single nucleotide variant not provided [RCV001668667] Chr19:7168202 [GRCh38]
Chr19:7168213 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2029+254A>G single nucleotide variant not provided [RCV001681429] Chr19:7162778 [GRCh38]
Chr19:7162789 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3615G>A (p.Pro1205=) single nucleotide variant not provided [RCV000894712] Chr19:7120664 [GRCh38]
Chr19:7120675 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3795-66G>A single nucleotide variant not provided [RCV001667763] Chr19:7117476 [GRCh38]
Chr19:7117487 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1092C>T (p.Asn364=) single nucleotide variant not provided [RCV000895035] Chr19:7174614 [GRCh38]
Chr19:7174625 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3660-246_3660-241del deletion not provided [RCV001709465] Chr19:7119824..7119829 [GRCh38]
Chr19:7119835..7119840 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3259-304G>A single nucleotide variant not provided [RCV001611286] Chr19:7123293 [GRCh38]
Chr19:7123304 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*3855C>G AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001135439]|Leprechaunism syndrome [RCV001135438]|Rabson-Mendenhall syndrome [RCV001135437] Chr19:7113201 [GRCh38]
Chr19:7113212 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*2752C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001135685]|Leprechaunism syndrome [RCV001135686]|Rabson-Mendenhall syndrome [RCV001135684] Chr19:7114304 [GRCh38]
Chr19:7114315 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*499G>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001132821]|Leprechaunism syndrome [RCV001132822]|Rabson-Mendenhall syndrome [RCV001132823]|not provided [RCV004694830] Chr19:7116557 [GRCh38]
Chr19:7116568 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*1917G>C AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001135909]|Leprechaunism syndrome [RCV001135908]|Rabson-Mendenhall syndrome [RCV001134441] Chr19:7115139 [GRCh38]
Chr19:7115150 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3809G>A (p.Arg1270His) single nucleotide variant not provided [RCV000996723] Chr19:7117396 [GRCh38]
Chr19:7117407 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*1045C>T AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001136129]|Leprechaunism syndrome [RCV001136128]|Rabson-Mendenhall syndrome [RCV001136127] Chr19:7116011 [GRCh38]
Chr19:7116022 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2683-302A>G single nucleotide variant not provided [RCV001689529] Chr19:7132619 [GRCh38]
Chr19:7132630 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3660-56GT[8] microsatellite not provided [RCV001666252] Chr19:7119625..7119626 [GRCh38]
Chr19:7119636..7119637 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2030-138TG[5] microsatellite not provided [RCV001679128] Chr19:7153054..7153055 [GRCh38]
Chr19:7153065..7153066 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3023G>C (p.Cys1008Ser) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001133115]|Leprechaunism syndrome [RCV001133114]|Rabson-Mendenhall syndrome [RCV001133113] Chr19:7125518 [GRCh38]
Chr19:7125529 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*1591C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001131576]|Leprechaunism syndrome [RCV001131575]|Rabson-Mendenhall syndrome [RCV001131577] Chr19:7115465 [GRCh38]
Chr19:7115476 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*1190A>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001131710]|Leprechaunism syndrome [RCV001129026]|Rabson-Mendenhall syndrome [RCV001131711] Chr19:7115866 [GRCh38]
Chr19:7115877 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*214G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001131952]|Leprechaunism syndrome [RCV001131953]|Rabson-Mendenhall syndrome [RCV001131954] Chr19:7116842 [GRCh38]
Chr19:7116853 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*130A>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001131955]|Leprechaunism syndrome [RCV001131956]|Rabson-Mendenhall syndrome [RCV001131957]|not provided [RCV004704439] Chr19:7116926 [GRCh38]
Chr19:7116937 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3844A>G (p.Thr1282Ala) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001132067]|Leprechaunism syndrome [RCV001132068]|Rabson-Mendenhall syndrome [RCV001132066] Chr19:7117361 [GRCh38]
Chr19:7117372 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3174G>A (p.Thr1058=) single nucleotide variant INSR-related disorder [RCV004531010]|not provided [RCV000897527] Chr19:7125367 [GRCh38]
Chr19:7125378 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2799C>T (p.Asn933=) single nucleotide variant not provided [RCV000921278] Chr19:7132201 [GRCh38]
Chr19:7132212 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2325C>T (p.Pro775=) single nucleotide variant not provided [RCV000926996] Chr19:7143033 [GRCh38]
Chr19:7143044 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2575C>T (p.His859Tyr) single nucleotide variant INSR-related disorder [RCV004541867]|Monogenic diabetes [RCV001174370]|not provided [RCV000897981] Chr19:7141784 [GRCh38]
Chr19:7141795 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3876C>T (p.Asp1292=) single nucleotide variant not provided [RCV000937345] Chr19:7117329 [GRCh38]
Chr19:7117340 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2517C>T (p.Tyr839=) single nucleotide variant not provided [RCV000906441] Chr19:7142841 [GRCh38]
Chr19:7142852 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.653-7del deletion Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV002503031]|not provided [RCV000965418]|not specified [RCV001819062] Chr19:7184644 [GRCh38]
Chr19:7184655 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.653-23TC[16] microsatellite not provided [RCV000901450] Chr19:7184640..7184641 [GRCh38]
Chr19:7184651..7184652 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3364G>A (p.Ala1122Thr) single nucleotide variant Esophageal atresia [RCV000984656] Chr19:7122884 [GRCh38]
Chr19:7122895 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1268+5G>A single nucleotide variant not provided [RCV000970801] Chr19:7172285 [GRCh38]
Chr19:7172296 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.921CAA[2] (p.Asn309del) microsatellite Leprechaunism syndrome [RCV000778141] Chr19:7184361..7184363 [GRCh38]
Chr19:7184372..7184374 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000778147]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV002487597]|Leprechaunism syndrome [RCV001132181]|Rabson-Mendenhall syndrome [RCV001132182]|not provided [RCV005092312] Chr19:7125398 [GRCh38]
Chr19:7125409 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.3999G>T (p.Ser1333=) single nucleotide variant not provided [RCV000910245] Chr19:7117206 [GRCh38]
Chr19:7117217 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.309C>T (p.Phe103=) single nucleotide variant not provided [RCV000933030] Chr19:7267688 [GRCh38]
Chr19:7267699 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2793G>A (p.Ala931=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884803]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001129565]|Leprechaunism syndrome [RCV001129563]|Rabson-Mendenhall syndrome [RCV001129564]|not provided [RCV000915560]|not specified [RCV001818861] Chr19:7132207 [GRCh38]
Chr19:7132218 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.3999G>A (p.Ser1333=) single nucleotide variant not provided [RCV000908678] Chr19:7117206 [GRCh38]
Chr19:7117217 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3102C>T (p.Phe1034=) single nucleotide variant not provided [RCV000917326] Chr19:7125439 [GRCh38]
Chr19:7125450 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1584G>A (p.Leu528=) single nucleotide variant INSR-related disorder [RCV004533600]|not provided [RCV000938149]|not specified [RCV003151225] Chr19:7167994 [GRCh38]
Chr19:7168005 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.2361C>T (p.Ser787=) single nucleotide variant not provided [RCV000918818] Chr19:7142997 [GRCh38]
Chr19:7143008 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1566C>T (p.Pro522=) single nucleotide variant not provided [RCV000898503] Chr19:7168012 [GRCh38]
Chr19:7168023 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.489C>A (p.Ile163=) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001135304]|Leprechaunism syndrome [RCV001133818]|Rabson-Mendenhall syndrome [RCV001133817]|Type 2 diabetes mellitus [RCV002227228]|not provided [RCV000927016]|not specified [RCV001818887] Chr19:7267508 [GRCh38]
Chr19:7267519 [GRCh37]
Chr19:19p13.2		 benign|likely benign|uncertain significance
NM_000208.4(INSR):c.653-9del deletion not provided [RCV000965419]|not specified [RCV001819063] Chr19:7184646 [GRCh38]
Chr19:7184657 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.888G>A (p.Ser296=) single nucleotide variant not provided [RCV000888031] Chr19:7184402 [GRCh38]
Chr19:7184413 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.1989G>A (p.Ala663=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003883515]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001130596]|Leprechaunism syndrome [RCV001130595]|Rabson-Mendenhall syndrome [RCV001130594]|not provided [RCV000961582] Chr19:7163072 [GRCh38]
Chr19:7163083 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.2683-5C>T single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884796]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001133229]|Leprechaunism syndrome [RCV001133230]|Rabson-Mendenhall syndrome [RCV001133228]|not provided [RCV000903564]|not specified [RCV001796812] Chr19:7132322 [GRCh38]
Chr19:7132333 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.1179G>T (p.Gly393=) single nucleotide variant INSR-related disorder [RCV004541936]|not provided [RCV000910003]|not specified [RCV001818823] Chr19:7172379 [GRCh38]
Chr19:7172390 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.624A>G (p.Arg208=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003884804]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001130846]|Leprechaunism syndrome [RCV001130845]|Rabson-Mendenhall syndrome [RCV001130844]|not provided [RCV000919170]|not specified [RCV001818865] Chr19:7267373 [GRCh38]
Chr19:7267384 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.2250T>C (p.Thr750=) single nucleotide variant not provided [RCV000893318] Chr19:7150514 [GRCh38]
Chr19:7150525 [GRCh37]
Chr19:19p13.2		 likely benign
GRCh37/hg19 19p13.2(chr19:7184327-7184648)x1 copy number loss not provided [RCV000997021] Chr19:7184327..7184648 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*4376G>C single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001135302]|Leprechaunism syndrome [RCV001135301]|Rabson-Mendenhall syndrome [RCV001135303] Chr19:7112680 [GRCh38]
Chr19:7112691 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.474C>T (p.Ile158=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001135305]|Leprechaunism syndrome [RCV001135306]|Rabson-Mendenhall syndrome [RCV001135307]|not provided [RCV003769637] Chr19:7267523 [GRCh38]
Chr19:7267534 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.*3101C>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001135561]|Leprechaunism syndrome [RCV001135562]|Rabson-Mendenhall syndrome [RCV001135560] Chr19:7113955 [GRCh38]
Chr19:7113966 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*1584C>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001132615]|Leprechaunism syndrome [RCV001132616]|Rabson-Mendenhall syndrome [RCV001131578] Chr19:7115472 [GRCh38]
Chr19:7115483 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.-62C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001135443]|Leprechaunism syndrome [RCV001135445]|Rabson-Mendenhall syndrome [RCV001135444] Chr19:7293953 [GRCh38]
Chr19:7293964 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*1067G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001132718]|Leprechaunism syndrome [RCV001132717]|Rabson-Mendenhall syndrome [RCV001136126] Chr19:7115989 [GRCh38]
Chr19:7116000 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3501C>T (p.Val1167=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001133009]|Leprechaunism syndrome [RCV001133008]|Rabson-Mendenhall syndrome [RCV001136448]|not provided [RCV005093597] Chr19:7122642 [GRCh38]
Chr19:7122653 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.2376G>A (p.Pro792=) single nucleotide variant not provided [RCV000980629] Chr19:7142982 [GRCh38]
Chr19:7142993 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.*2475A>G AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001134320]|Leprechaunism syndrome [RCV001134319]|Rabson-Mendenhall syndrome [RCV001134318] Chr19:7114581 [GRCh38]
Chr19:7114592 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2848G>A (p.Val950Ile) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001134585]|Leprechaunism syndrome [RCV001134584]|Rabson-Mendenhall syndrome [RCV001134586] Chr19:7128949 [GRCh38]
Chr19:7128960 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*2322G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001135794]|Leprechaunism syndrome [RCV001135795]|Rabson-Mendenhall syndrome [RCV001135793] Chr19:7114734 [GRCh38]
Chr19:7114745 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3661T>G (p.Ser1221Ala) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000990139] Chr19:7119582 [GRCh38]
Chr19:7119593 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2596G>A (p.Val866Ile) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001129682]|Leprechaunism syndrome [RCV001129681]|Rabson-Mendenhall syndrome [RCV001129680] Chr19:7141763 [GRCh38]
Chr19:7141774 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2030-3C>T single nucleotide variant Inborn genetic diseases [RCV002549948]|not provided [RCV000996724] Chr19:7152930 [GRCh38]
Chr19:7152941 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000208.4(INSR):c.261C>T (p.Tyr87=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001130265]|Leprechaunism syndrome [RCV001130267]|Rabson-Mendenhall syndrome [RCV001130266]|not provided [RCV002556831] Chr19:7267736 [GRCh38]
Chr19:7267747 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.*3019C>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001130495]|Leprechaunism syndrome [RCV001130496]|Rabson-Mendenhall syndrome [RCV001130494] Chr19:7114037 [GRCh38]
Chr19:7114048 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1988C>T (p.Ala663Val) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001130598]|Leprechaunism syndrome [RCV001133544]|Rabson-Mendenhall syndrome [RCV001130597]|not provided [RCV003769241] Chr19:7163073 [GRCh38]
Chr19:7163084 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.3164C>T (p.Ala1055Val) single nucleotide variant not provided [RCV001811619] Chr19:7125377 [GRCh38]
Chr19:7125388 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.2842+6T>A AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000990141] Chr19:7132152 [GRCh38]
Chr19:7132163 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*1909A>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001135910]|Leprechaunism syndrome [RCV001135911]|Rabson-Mendenhall syndrome [RCV001135912] Chr19:7115147 [GRCh38]
Chr19:7115158 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*1574G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001132617]|Leprechaunism syndrome [RCV001132619]|Rabson-Mendenhall syndrome [RCV001132618] Chr19:7115482 [GRCh38]
Chr19:7115493 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*302A>G AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001136223]|Leprechaunism syndrome [RCV001136222]|Rabson-Mendenhall syndrome [RCV001136221] Chr19:7116754 [GRCh38]
Chr19:7116765 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.224A>G (p.Asp75Gly) single nucleotide variant INSR-related disorder [RCV004538395]|Monogenic diabetes [RCV001174372]|not specified [RCV004782661] Chr19:7267773 [GRCh38]
Chr19:7267784 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.*2568G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001128688]|Leprechaunism syndrome [RCV001128687]|Rabson-Mendenhall syndrome [RCV001128689] Chr19:7114488 [GRCh38]
Chr19:7114499 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*1831C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001128911]|Leprechaunism syndrome [RCV001128912]|Rabson-Mendenhall syndrome [RCV001128910] Chr19:7115225 [GRCh38]
Chr19:7115236 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3157C>T (p.Arg1053Cys) single nucleotide variant not provided [RCV003106499] Chr19:7125384 [GRCh38]
Chr19:7125395 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.660_661del (p.Thr221fs) deletion 46,XY disorder of sex development [RCV003126299] Chr19:7184629..7184630 [GRCh38]
Chr19:7184640..7184641 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.1483+43G>T single nucleotide variant not provided [RCV001720868] Chr19:7170494 [GRCh38]
Chr19:7170505 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2683-242A>G single nucleotide variant not provided [RCV001698785] Chr19:7132559 [GRCh38]
Chr19:7132570 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2030-206T>C single nucleotide variant not provided [RCV001688249] Chr19:7153133 [GRCh38]
Chr19:7153144 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.653-70ATTT[12] microsatellite not provided [RCV001608647] Chr19:7184663..7184664 [GRCh38]
Chr19:7184674..7184675 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3529+129del deletion not provided [RCV001696116] Chr19:7122485 [GRCh38]
Chr19:7122496 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2842+88G>A single nucleotide variant not provided [RCV001695731] Chr19:7132070 [GRCh38]
Chr19:7132081 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3660-59C>T single nucleotide variant not provided [RCV001676265] Chr19:7119642 [GRCh38]
Chr19:7119653 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3259-192A>T single nucleotide variant not provided [RCV001716282] Chr19:7123181 [GRCh38]
Chr19:7123192 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.653-153G>A single nucleotide variant not provided [RCV001654508] Chr19:7184790 [GRCh38]
Chr19:7184801 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3660-190_3660-189insTGTGTGTT insertion not provided [RCV001667503] Chr19:7119772..7119773 [GRCh38]
Chr19:7119783..7119784 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2030-175GT[2] microsatellite not provided [RCV001674629] Chr19:7153095..7153098 [GRCh38]
Chr19:7153106..7153109 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2030-88T>G single nucleotide variant not provided [RCV001639929] Chr19:7153015 [GRCh38]
Chr19:7153026 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.975-279A>G single nucleotide variant not provided [RCV001650132] Chr19:7175010 [GRCh38]
Chr19:7175021 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1610+264T>C single nucleotide variant not provided [RCV001714740] Chr19:7167704 [GRCh38]
Chr19:7167715 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2683-309del deletion not provided [RCV001689469] Chr19:7132626 [GRCh38]
Chr19:7132637 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1124-311G>A single nucleotide variant not provided [RCV001541397] Chr19:7172745 [GRCh38]
Chr19:7172756 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1862-116A>G single nucleotide variant not provided [RCV001617155] Chr19:7163315 [GRCh38]
Chr19:7163326 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.653-70ATTT[10] microsatellite not provided [RCV001686259] Chr19:7184664..7184667 [GRCh38]
Chr19:7184675..7184678 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.653-23TC[14] microsatellite not provided [RCV000961583]|not specified [RCV001819033] Chr19:7184640..7184641 [GRCh38]
Chr19:7184651..7184652 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2263C>T (p.Pro755Ser) single nucleotide variant INSR-related disorder [RCV004543656]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001134906]|Leprechaunism syndrome [RCV001133424]|Rabson-Mendenhall syndrome [RCV001133423]|not provided [RCV000979668]|not specified [RCV001819155] Chr19:7150501 [GRCh38]
Chr19:7150512 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.1191C>T (p.Ile397=) single nucleotide variant INSR-related disorder [RCV004541922]|not provided [RCV000907133]|not specified [RCV001818798] Chr19:7172367 [GRCh38]
Chr19:7172378 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3297G>A (p.Thr1099=) single nucleotide variant not provided [RCV000909211] Chr19:7122951 [GRCh38]
Chr19:7122962 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2319C>T (p.Ala773=) single nucleotide variant not provided [RCV000907399] Chr19:7143039 [GRCh38]
Chr19:7143050 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1503A>G (p.Lys501=) single nucleotide variant INSR-related disorder [RCV004735883]|not provided [RCV000910090] Chr19:7168075 [GRCh38]
Chr19:7168086 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.3324C>T (p.His1108=) single nucleotide variant not provided [RCV000930095] Chr19:7122924 [GRCh38]
Chr19:7122935 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1536C>A (p.Ile512=) single nucleotide variant not provided [RCV000925749] Chr19:7168042 [GRCh38]
Chr19:7168053 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.575G>A (p.Gly192Asp) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001133816]|Leprechaunism syndrome [RCV001133815]|Rabson-Mendenhall syndrome [RCV001133814]|not provided [RCV000919816] Chr19:7267422 [GRCh38]
Chr19:7267433 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.653-23TC[20] microsatellite Inborn genetic diseases [RCV002540222]|not provided [RCV000903459] Chr19:7184640..7184641 [GRCh38]
Chr19:7184651..7184652 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.1671G>A (p.Thr557=) single nucleotide variant not provided [RCV000886240] Chr19:7166344 [GRCh38]
Chr19:7166355 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3228G>A (p.Ser1076=) single nucleotide variant not provided [RCV000908077] Chr19:7125313 [GRCh38]
Chr19:7125324 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.891G>A (p.Arg297=) single nucleotide variant not provided [RCV000921754] Chr19:7184399 [GRCh38]
Chr19:7184410 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.4134G>C (p.Arg1378=) single nucleotide variant not provided [RCV000933467] Chr19:7117071 [GRCh38]
Chr19:7117082 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3660-64G>A single nucleotide variant not provided [RCV001609144] Chr19:7119647 [GRCh38]
Chr19:7119658 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*743A>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001131830]|Leprechaunism syndrome [RCV001131832]|Rabson-Mendenhall syndrome [RCV001131831] Chr19:7116313 [GRCh38]
Chr19:7116324 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2739G>T (p.Leu913=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001132295]|Leprechaunism syndrome [RCV001132296]|Rabson-Mendenhall syndrome [RCV001132294] Chr19:7132261 [GRCh38]
Chr19:7132272 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1573C>T (p.Arg525Ter) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV002291289]|not provided [RCV001007958] Chr19:7168005 [GRCh38]
Chr19:7168016 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.*4696T>C single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001130839]|Leprechaunism syndrome [RCV001130840]|Rabson-Mendenhall syndrome [RCV001130838] Chr19:7112360 [GRCh38]
Chr19:7112371 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*2102T>C single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001131460]|Leprechaunism syndrome [RCV001131461]|Rabson-Mendenhall syndrome [RCV001131462] Chr19:7114954 [GRCh38]
Chr19:7114965 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1056G>A (p.Thr352=) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001133680]|Leprechaunism syndrome [RCV001133678]|Rabson-Mendenhall syndrome [RCV001133679] Chr19:7174650 [GRCh38]
Chr19:7174661 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2682+7C>T AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001134689]|Leprechaunism syndrome [RCV001134688]|Rabson-Mendenhall syndrome [RCV001134687] Chr19:7141670 [GRCh38]
Chr19:7141681 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*3786G>C AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001135442]|Leprechaunism syndrome [RCV001135440]|Rabson-Mendenhall syndrome [RCV001135441] Chr19:7113270 [GRCh38]
Chr19:7113281 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.*1001A>G AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001136132]|Leprechaunism syndrome [RCV001136130]|Rabson-Mendenhall syndrome [RCV001136131] Chr19:7116055 [GRCh38]
Chr19:7116066 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1050G>A (p.Ser350=) single nucleotide variant not provided [RCV000912719] Chr19:7174656 [GRCh38]
Chr19:7174667 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3694T>C (p.Leu1232=) single nucleotide variant not provided [RCV000913030] Chr19:7119549 [GRCh38]
Chr19:7119560 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1203C>T (p.Tyr401=) single nucleotide variant not provided [RCV000913270] Chr19:7172355 [GRCh38]
Chr19:7172366 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3529+5G>A single nucleotide variant INSR-related disorder [RCV000984970] Chr19:7122609 [GRCh38]
Chr19:7122620 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3660-270GT[3] microsatellite not provided [RCV001656694] Chr19:7119844..7119847 [GRCh38]
Chr19:7119855..7119858 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.652+78del deletion not provided [RCV001621041] Chr19:7267267 [GRCh38]
Chr19:7267278 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2030-128del deletion not provided [RCV001621190] Chr19:7153055 [GRCh38]
Chr19:7153066 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1861+129G>T single nucleotide variant not provided [RCV001597920] Chr19:7166025 [GRCh38]
Chr19:7166036 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1861+286_1861+287del deletion not provided [RCV001637505] Chr19:7165867..7165868 [GRCh38]
Chr19:7165878..7165879 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1513A>G (p.Ile505Val) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV000990142] Chr19:7168065 [GRCh38]
Chr19:7168076 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1610+162G>T single nucleotide variant not provided [RCV001643535] Chr19:7167806 [GRCh38]
Chr19:7167817 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3529+236C>A single nucleotide variant not provided [RCV001649215] Chr19:7122378 [GRCh38]
Chr19:7122389 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2542+129G>A single nucleotide variant not provided [RCV001682014] Chr19:7142687 [GRCh38]
Chr19:7142698 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2855C>T (p.Ser952Leu) single nucleotide variant Inborn genetic diseases [RCV004987255]|not provided [RCV004820442] Chr19:7128942 [GRCh38]
Chr19:7128953 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3660-182_3660-181insCGTGTT insertion not provided [RCV001656954] Chr19:7119764..7119765 [GRCh38]
Chr19:7119775..7119776 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.974+52G>A single nucleotide variant not provided [RCV001608342] Chr19:7184264 [GRCh38]
Chr19:7184275 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.974+173T>C single nucleotide variant not provided [RCV001638786] Chr19:7184143 [GRCh38]
Chr19:7184154 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1123+268TTTTTA[3] microsatellite not provided [RCV001688483] Chr19:7174292..7174297 [GRCh38]
Chr19:7174303..7174308 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1861+159A>G single nucleotide variant not provided [RCV001672212] Chr19:7165995 [GRCh38]
Chr19:7166006 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2682+183C>A single nucleotide variant not provided [RCV001639255] Chr19:7141494 [GRCh38]
Chr19:7141505 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3013+271A>G single nucleotide variant not provided [RCV001655999] Chr19:7126313 [GRCh38]
Chr19:7126324 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2030-107_2030-106insGTATGTGTG insertion not provided [RCV001670231] Chr19:7153033..7153034 [GRCh38]
Chr19:7153044..7153045 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2030-73T>G single nucleotide variant not provided [RCV001619418] Chr19:7153000 [GRCh38]
Chr19:7153011 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.101-32C>T single nucleotide variant not provided [RCV001673501] Chr19:7267928 [GRCh38]
Chr19:7267939 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1269-99C>T single nucleotide variant not provided [RCV001721768] Chr19:7170850 [GRCh38]
Chr19:7170861 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.100+243G>A single nucleotide variant not provided [RCV001676175] Chr19:7293549 [GRCh38]
Chr19:7293560 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.653-175_653-174del deletion not provided [RCV001676843] Chr19:7184811..7184812 [GRCh38]
Chr19:7184822..7184823 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.653-70ATTT[9] microsatellite not provided [RCV001670824] Chr19:7184664..7184671 [GRCh38]
Chr19:7184675..7184682 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1268+92G>A single nucleotide variant not provided [RCV001649505] Chr19:7172198 [GRCh38]
Chr19:7172198..7172199 [GRCh38]
Chr19:7172209 [GRCh37]
Chr19:7172209..7172210 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1269-231A>G single nucleotide variant not provided [RCV001638288] Chr19:7170982 [GRCh38]
Chr19:7170993 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1861+151A>G single nucleotide variant not provided [RCV001695360] Chr19:7166003 [GRCh38]
Chr19:7166003..7166004 [GRCh38]
Chr19:7166014 [GRCh37]
Chr19:7166014..7166015 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2030-121_2030-106del deletion not provided [RCV001617752] Chr19:7153033..7153048 [GRCh38]
Chr19:7153044..7153059 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.974+240C>T single nucleotide variant not provided [RCV001641186] Chr19:7184076 [GRCh38]
Chr19:7184087 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.728G>A (p.Cys243Tyr) single nucleotide variant not specified [RCV001001359] Chr19:7184562 [GRCh38]
Chr19:7184573 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2380G>A (p.Glu794Lys) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001129807]|Leprechaunism syndrome [RCV001129806]|Rabson-Mendenhall syndrome [RCV001129805] Chr19:7142978 [GRCh38]
Chr19:7142989 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.632C>T (p.Thr211Ile) single nucleotide variant Leprechaunism syndrome [RCV001172282] Chr19:7267365 [GRCh38]
Chr19:7267376 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.653-114T>C single nucleotide variant not provided [RCV001708305] Chr19:7184751 [GRCh38]
Chr19:7184762 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2842+171_2842+172del deletion not provided [RCV001681744] Chr19:7131986..7131987 [GRCh38]
Chr19:7131997..7131998 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1123+21G>A single nucleotide variant not provided [RCV001638033]|not specified [RCV001000596] Chr19:7174562 [GRCh38]
Chr19:7174573 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2774T>C (p.Ile925Thr) single nucleotide variant not specified [RCV001001360] Chr19:7132226 [GRCh38]
Chr19:7132237 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.974+84G>C single nucleotide variant not provided [RCV001669196] Chr19:7184232 [GRCh38]
Chr19:7184243 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3659+251T>C single nucleotide variant not provided [RCV001614194] Chr19:7120369 [GRCh38]
Chr19:7120380 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2030-269TG[6] microsatellite not provided [RCV001691821] Chr19:7153186..7153187 [GRCh38]
Chr19:7153197..7153198 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.653-73G>A single nucleotide variant not provided [RCV001710648] Chr19:7184710 [GRCh38]
Chr19:7184721 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1861+107dup duplication not provided [RCV001678839] Chr19:7166032..7166033 [GRCh38]
Chr19:7166043..7166044 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2946-228del deletion not provided [RCV001678886] Chr19:7126879 [GRCh38]
Chr19:7126890 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.974+89C>T single nucleotide variant not provided [RCV001612243] Chr19:7184227 [GRCh38]
Chr19:7184238 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3258+308G>A single nucleotide variant not provided [RCV001689470] Chr19:7124975 [GRCh38]
Chr19:7124986 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1483+171G>A single nucleotide variant not provided [RCV001645776] Chr19:7170366 [GRCh38]
Chr19:7170377 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3795-85C>T single nucleotide variant not provided [RCV001681850] Chr19:7117495 [GRCh38]
Chr19:7117506 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3529+303G>A single nucleotide variant not provided [RCV001649052] Chr19:7122311 [GRCh38]
Chr19:7122322 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2268-51dup duplication not provided [RCV001681173] Chr19:7143133..7143134 [GRCh38]
Chr19:7143144..7143145 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1123+309C>T single nucleotide variant not provided [RCV001648359] Chr19:7174274 [GRCh38]
Chr19:7174285 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2945+218dup duplication not provided [RCV001710852] Chr19:7128623..7128624 [GRCh38]
Chr19:7128634..7128635 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.4139A>G (p.Asn1380Ser) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001136346]|Leprechaunism syndrome [RCV001129353]|Rabson-Mendenhall syndrome [RCV001136345] Chr19:7117066 [GRCh38]
Chr19:7117077 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.4133G>C (p.Arg1378Pro) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001129354]|Leprechaunism syndrome [RCV001129356]|Rabson-Mendenhall syndrome [RCV001129355] Chr19:7117072 [GRCh38]
Chr19:7117083 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1305A>G (p.Leu435=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001130007]|Leprechaunism syndrome [RCV001130006]|Rabson-Mendenhall syndrome [RCV001130720] Chr19:7170715 [GRCh38]
Chr19:7170726 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2231+34G>A single nucleotide variant not provided [RCV001683933] Chr19:7152692 [GRCh38]
Chr19:7152703 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.221G>A (p.Arg74Gln) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001130982]|Leprechaunism syndrome [RCV001130981]|Rabson-Mendenhall syndrome [RCV001130980] Chr19:7267776 [GRCh38]
Chr19:7267787 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.345C>T (p.Phe115=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001135309]|Leprechaunism syndrome [RCV001135308]|Rabson-Mendenhall syndrome [RCV001135310] Chr19:7267652 [GRCh38]
Chr19:7267663 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*2752C>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001128686]|Leprechaunism syndrome [RCV001135687]|Rabson-Mendenhall syndrome [RCV001135688] Chr19:7114304 [GRCh38]
Chr19:7114315 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*334C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001136218]|Leprechaunism syndrome [RCV001136220]|Rabson-Mendenhall syndrome [RCV001136219] Chr19:7116722 [GRCh38]
Chr19:7116733 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*959A>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001129150]|Leprechaunism syndrome [RCV001136133]|Rabson-Mendenhall syndrome [RCV001129151] Chr19:7116097 [GRCh38]
Chr19:7116108 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2829C>T (p.Tyr943=) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003883558]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001129561]|Leprechaunism syndrome [RCV001129560]|Rabson-Mendenhall syndrome [RCV001129562]|not provided [RCV002070511] Chr19:7132171 [GRCh38]
Chr19:7132182 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.2121C>T (p.Gly707=) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001129886]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV002480506]|Leprechaunism syndrome [RCV001129884]|Rabson-Mendenhall syndrome [RCV001129885] Chr19:7152836 [GRCh38]
Chr19:7152847 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*4712T>C AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001130837]|Leprechaunism syndrome [RCV001130135]|Rabson-Mendenhall syndrome [RCV001130136] Chr19:7112344 [GRCh38]
Chr19:7112355 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*1137A>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001131713]|Leprechaunism syndrome [RCV001131712]|Rabson-Mendenhall syndrome [RCV001131714] Chr19:7115919 [GRCh38]
Chr19:7115930 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2543-13C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001132395]|Leprechaunism syndrome [RCV001133317]|Rabson-Mendenhall syndrome [RCV001133316] Chr19:7141829 [GRCh38]
Chr19:7141840 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*442G>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001132825]|Leprechaunism syndrome [RCV001132824]|Rabson-Mendenhall syndrome [RCV001132826] Chr19:7116614 [GRCh38]
Chr19:7116625 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*356G>T AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001136217]|Leprechaunism syndrome [RCV001136216]|Rabson-Mendenhall syndrome [RCV001132827] Chr19:7116700 [GRCh38]
Chr19:7116711 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2698G>A (p.Val900Ile) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001133227]|Leprechaunism syndrome [RCV001133226]|Rabson-Mendenhall syndrome [RCV001133225]|not provided [RCV002556859] Chr19:7132302 [GRCh38]
Chr19:7132313 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000208.4(INSR):c.1866C>T (p.Pro622=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001135035]|Leprechaunism syndrome [RCV001135036]|Rabson-Mendenhall syndrome [RCV001133545] Chr19:7163195 [GRCh38]
Chr19:7163206 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*3858G>A AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001133939]|Leprechaunism syndrome [RCV001133937]|Rabson-Mendenhall syndrome [RCV001133938] Chr19:7113198 [GRCh38]
Chr19:7113209 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*3013C>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001130497]|Leprechaunism syndrome [RCV001130498]|Rabson-Mendenhall syndrome [RCV001131218] Chr19:7114043 [GRCh38]
Chr19:7114054 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*2023A>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001131463]|Leprechaunism syndrome [RCV001134440]|Rabson-Mendenhall syndrome [RCV001131464] Chr19:7115033 [GRCh38]
Chr19:7115044 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1459A>C (p.Lys487Gln) single nucleotide variant Monogenic diabetes [RCV001174371] Chr19:7170561 [GRCh38]
Chr19:7170572 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*87C>T single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001136342]|Leprechaunism syndrome [RCV001136344]|Rabson-Mendenhall syndrome [RCV001136343] Chr19:7116969 [GRCh38]
Chr19:7116980 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*1573C>T AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001132622]|Leprechaunism syndrome [RCV001132620]|Rabson-Mendenhall syndrome [RCV001132621] Chr19:7115483 [GRCh38]
Chr19:7115494 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*97A>G single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001132908]|Leprechaunism syndrome [RCV001132909]|Rabson-Mendenhall syndrome [RCV001132910] Chr19:7116959 [GRCh38]
Chr19:7116970 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2276G>A (p.Arg759Gln) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001133422]|Leprechaunism syndrome [RCV001133421]|Rabson-Mendenhall syndrome [RCV001133420] Chr19:7143082 [GRCh38]
Chr19:7143093 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*1831C>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001128913]|Leprechaunism syndrome [RCV001128915]|Rabson-Mendenhall syndrome [RCV001128914] Chr19:7115225 [GRCh38]
Chr19:7115236 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*4380G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001133811]|Leprechaunism syndrome [RCV001133813]|Rabson-Mendenhall syndrome [RCV001133812] Chr19:7112676 [GRCh38]
Chr19:7112687 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2522G>A (p.Ser841Asn) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001134791]|Leprechaunism syndrome [RCV001134792]|Rabson-Mendenhall syndrome [RCV001134793] Chr19:7142836 [GRCh38]
Chr19:7142847 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.*241G>A single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001129253]|Leprechaunism syndrome [RCV001129255]|Rabson-Mendenhall syndrome [RCV001129254] Chr19:7116815 [GRCh38]
Chr19:7116826 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2602C>T (p.His868Tyr) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001129677]|Leprechaunism syndrome [RCV001129679]|Rabson-Mendenhall syndrome [RCV001129678] Chr19:7141757 [GRCh38]
Chr19:7141768 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.783C>G (p.Asp261Glu) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001130137]|Leprechaunism syndrome [RCV001130139]|Rabson-Mendenhall syndrome [RCV001130138] Chr19:7184507 [GRCh38]
Chr19:7184518 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.4065C>A (p.Tyr1355Ter) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001253545] Chr19:7117140 [GRCh38]
Chr19:7117151 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1861+287del deletion not provided [RCV001663112] Chr19:7165867 [GRCh38]
Chr19:7165878 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1861+56T>C single nucleotide variant not provided [RCV001663169] Chr19:7166098 [GRCh38]
Chr19:7166109 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1151A>G (p.Asn384Ser) single nucleotide variant not specified [RCV001269129] Chr19:7172407 [GRCh38]
Chr19:7172418 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3530-306A>G single nucleotide variant not provided [RCV001539401] Chr19:7121055 [GRCh38]
Chr19:7121066 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2267+90G>C single nucleotide variant not provided [RCV001642013] Chr19:7150407 [GRCh38]
Chr19:7150418 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1130T>G (p.Leu377Arg) single nucleotide variant Hyperinsulinemic hypoglycemia familial 5 [RCV001329694] Chr19:7172428 [GRCh38]
Chr19:7172439 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly) single nucleotide variant INSR-related disorder [RCV004545213]|Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV002486479]|not provided [RCV001355872]|not specified [RCV001820051] Chr19:7168028 [GRCh38]
Chr19:7168039 [GRCh37]
Chr19:19p13.2		 benign|likely benign|uncertain significance
NM_000208.4(INSR):c.698T>G (p.Leu233Arg) single nucleotide variant not provided [RCV001358257] Chr19:7184592 [GRCh38]
Chr19:7184603 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2842+4A>T AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001335175] Chr19:7132154 [GRCh38]
Chr19:7132165 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3808C>T (p.Arg1270Cys) single nucleotide variant Rabson-Mendenhall syndrome [RCV001335176] Chr19:7117397 [GRCh38]
Chr19:7117408 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1033G>T (p.Glu345Ter) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV001335174] Chr19:7174673 [GRCh38]
Chr19:7174684 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.3964G>C (p.Glu1322Gln) single nucleotide variant not provided [RCV001355492] Chr19:7117241 [GRCh38]
Chr19:7117252 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1124-81G>T single nucleotide variant not provided [RCV001666467] Chr19:7172515 [GRCh38]
Chr19:7172526 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2843-99C>A single nucleotide variant not provided [RCV001686912] Chr19:7129053 [GRCh38]
Chr19:7129064 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2683-243C>T single nucleotide variant not provided [RCV001617644] Chr19:7132560 [GRCh38]
Chr19:7132571 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1484-108G>A single nucleotide variant not provided [RCV001615932] Chr19:7168202 [GRCh38]
Chr19:7168213 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.3529+113del deletion not provided [RCV001710292] Chr19:7122501 [GRCh38]
Chr19:7122512 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1611-282C>T single nucleotide variant not provided [RCV001668099] Chr19:7166686 [GRCh38]
Chr19:7166697 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1611-126T>C single nucleotide variant not provided [RCV001610176] Chr19:7166530 [GRCh38]
Chr19:7166541 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2029+115AC[6] microsatellite not provided [RCV001681181] Chr19:7162904..7162905 [GRCh38]
Chr19:7162915..7162916 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.1348C>T (p.Gln450Ter) single nucleotide variant not provided [RCV001381637] Chr19:7170672 [GRCh38]
Chr19:7170683 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.3660-57C>T single nucleotide variant not provided [RCV001536608] Chr19:7119640 [GRCh38]
Chr19:7119651 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.4133G>A (p.Arg1378Gln) single nucleotide variant not provided [RCV003094009]|not specified [RCV002249027] Chr19:7117072 [GRCh38]
Chr19:7117083 [GRCh37]
Chr19:19p13.2		 benign|uncertain significance
NM_000208.4(INSR):c.433C>T (p.Arg145Cys) single nucleotide variant Rabson-Mendenhall syndrome [RCV004821005] Chr19:7267564 [GRCh38]
Chr19:7267575 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.250A>G (p.Ile84Val) single nucleotide variant not provided [RCV001787616] Chr19:7267747 [GRCh38]
Chr19:7267758 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3955A>T (p.Met1319Leu) single nucleotide variant not provided [RCV001754227] Chr19:7117250 [GRCh38]
Chr19:7117261 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.881A>G (p.Lys294Arg) single nucleotide variant not provided [RCV001795729] Chr19:7184409 [GRCh38]
Chr19:7184420 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2766C>T (p.Ser922=) single nucleotide variant not provided [RCV001795777]|not specified [RCV001822011] Chr19:7132234 [GRCh38]
Chr19:7132245 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.851G>A (p.Ser284Asn) single nucleotide variant not specified [RCV001817484] Chr19:7184439 [GRCh38]
Chr19:7184450 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.123G>T (p.Arg41=) single nucleotide variant INSR-related disorder [RCV004542121]|not specified [RCV001817134] Chr19:7267874 [GRCh38]
Chr19:7267885 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.14del (p.Gly5fs) deletion not provided [RCV001817926] Chr19:7293878 [GRCh38]
Chr19:7293889 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.784G>A (p.Gly262Ser) single nucleotide variant not specified [RCV001819423] Chr19:7184506 [GRCh38]
Chr19:7184517 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.690C>T (p.Ala230=) single nucleotide variant INSR-related disorder [RCV004542127]|not provided [RCV004571113]|not specified [RCV001819562] Chr19:7184600 [GRCh38]
Chr19:7184611 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3234G>A (p.Met1078Ile) single nucleotide variant not provided [RCV001819646] Chr19:7125307 [GRCh38]
Chr19:7125318 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.2081C>T (p.Ser694Phe) single nucleotide variant not specified [RCV001820623] Chr19:7152876 [GRCh38]
Chr19:7152887 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3202C>T (p.Arg1068Trp) single nucleotide variant not provided [RCV002541975]|not specified [RCV001817174] Chr19:7125339 [GRCh38]
Chr19:7125350 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1001C>T (p.Pro334Leu) single nucleotide variant not specified [RCV001822374] Chr19:7174705 [GRCh38]
Chr19:7174716 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.653-23TC[13] microsatellite INSR-related disorder [RCV004542124]|not provided [RCV003565495]|not specified [RCV001817443] Chr19:7184640..7184641 [GRCh38]
Chr19:7184651..7184652 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3454G>C (p.Ala1152Pro) single nucleotide variant not specified [RCV001817660] Chr19:7122689 [GRCh38]
Chr19:7122700 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.320C>T (p.Thr107Met) single nucleotide variant not specified [RCV001817742] Chr19:7267677 [GRCh38]
Chr19:7267688 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3802_3804del (p.Leu1268del) deletion not provided [RCV001817783] Chr19:7117401..7117403 [GRCh38]
Chr19:7117412..7117414 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.1907C>T (p.Ser636Phe) single nucleotide variant not specified [RCV001817812] Chr19:7163154 [GRCh38]
Chr19:7163165 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.39delinsCCTGCTGGTGGCGGTGGCCGCGCCC (p.Pro13_Ala20dup) indel not specified [RCV001817956] Chr19:7293853 [GRCh38]
Chr19:7293864 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.653-23TC[15] microsatellite not provided [RCV001869803]|not specified [RCV001818070] Chr19:7184640..7184641 [GRCh38]
Chr19:7184651..7184652 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.3470A>G (p.His1157Arg) single nucleotide variant not provided [RCV001811945] Chr19:7122673 [GRCh38]
Chr19:7122684 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000208.4(INSR):c.2976C>T (p.Tyr992=) single nucleotide variant not specified [RCV001819656] Chr19:7126621 [GRCh38]
Chr19:7126632 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.386A>G (p.Lys129Arg) single nucleotide variant not specified [RCV001820501] Chr19:7267611 [GRCh38]
Chr19:7267622 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3591G>C (p.Leu1197=) single nucleotide variant not provided [RCV003426206]|not specified [RCV001820654] Chr19:7120688 [GRCh38]
Chr19:7120699 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3957G>C (p.Met1319Ile) single nucleotide variant not specified [RCV001820713] Chr19:7117248 [GRCh38]
Chr19:7117259 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3261G>A (p.Val1087=) single nucleotide variant not specified [RCV001822796] Chr19:7122987 [GRCh38]
Chr19:7122998 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.9:g.(?_7117067)_(7123020_?)dup duplication not provided [RCV001908005] Chr19:7117067..7123020 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1246C>T (p.Arg416Ter) single nucleotide variant not provided [RCV001949639] Chr19:7172312 [GRCh38]
Chr19:7172323 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.578A>G (p.Lys193Arg) single nucleotide variant Inborn genetic diseases [RCV002571349]|not provided [RCV001969480] Chr19:7267419 [GRCh38]
Chr19:7267430 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1843G>A (p.Val615Ile) single nucleotide variant not provided [RCV002042147] Chr19:7166172 [GRCh38]
Chr19:7166183 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1147G>A (p.Ala383Thr) single nucleotide variant not provided [RCV001942666] Chr19:7172411 [GRCh38]
Chr19:7172422 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3937G>A (p.Glu1313Lys) single nucleotide variant not provided [RCV002001226] Chr19:7117268 [GRCh38]
Chr19:7117279 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3614C>T (p.Pro1205Leu) single nucleotide variant not provided [RCV001994044] Chr19:7120665 [GRCh38]
Chr19:7120676 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.143A>G (p.His48Arg) single nucleotide variant not provided [RCV001960855] Chr19:7267854 [GRCh38]
Chr19:7267865 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2767G>A (p.Val923Met) single nucleotide variant not provided [RCV002011664] Chr19:7132233 [GRCh38]
Chr19:7132244 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.101-2A>G single nucleotide variant not provided [RCV002048199] Chr19:7267898 [GRCh38]
Chr19:7267909 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.1156G>A (p.Gly386Ser) single nucleotide variant not provided [RCV002016037] Chr19:7172402 [GRCh38]
Chr19:7172413 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2775C>A (p.Ile925=) single nucleotide variant not provided [RCV002110161] Chr19:7132225 [GRCh38]
Chr19:7132236 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2754G>A (p.Pro918=) single nucleotide variant INSR-related disorder [RCV004543722]|not provided [RCV002192958] Chr19:7132246 [GRCh38]
Chr19:7132257 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3530-15C>A single nucleotide variant not provided [RCV002121948] Chr19:7120764 [GRCh38]
Chr19:7120775 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.894G>A (p.Arg298=) single nucleotide variant not provided [RCV002155009] Chr19:7184396 [GRCh38]
Chr19:7184407 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3321T>C (p.Ala1107=) single nucleotide variant not provided [RCV002178169] Chr19:7122927 [GRCh38]
Chr19:7122938 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.4044G>C (p.Ser1348=) single nucleotide variant not provided [RCV002138312] Chr19:7117161 [GRCh38]
Chr19:7117172 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3258+16G>A single nucleotide variant not provided [RCV002118443] Chr19:7125267 [GRCh38]
Chr19:7125278 [GRCh37]
Chr19:19p13.2		 likely benign
NC_000019.9:g.(?_6361586)_(8212364_?)del deletion Mucolipidosis type IV [RCV003109715] Chr19:6361586..8212364 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_000208.4(INSR):c.2328G>A (p.Thr776=) single nucleotide variant not provided [RCV003118434] Chr19:7143030 [GRCh38]
Chr19:7143041 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.481T>C (p.Ser161Pro) single nucleotide variant not provided [RCV004795087] Chr19:7267516 [GRCh38]
Chr19:7267527 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.121C>T (p.Arg41Trp) single nucleotide variant Leprechaunism syndrome [RCV004796944] Chr19:7267876 [GRCh38]
Chr19:7267887 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.2185A>G (p.Arg729Gly) single nucleotide variant See cases [RCV002252438] Chr19:7152772 [GRCh38]
Chr19:7152783 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3052G>T (p.Val1018Leu) single nucleotide variant not provided [RCV002273381] Chr19:7125489 [GRCh38]
Chr19:7125500 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2960C>T (p.Pro987Leu) single nucleotide variant not provided [RCV002263135] Chr19:7126637 [GRCh38]
Chr19:7126648 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2830G>C (p.Val944Leu) single nucleotide variant See cases [RCV002287818] Chr19:7132170 [GRCh38]
Chr19:7132181 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.226C>G (p.Leu76Val) single nucleotide variant Inborn genetic diseases [RCV003259881] Chr19:7267771 [GRCh38]
Chr19:7267782 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1549G>A (p.Glu517Lys) single nucleotide variant not provided [RCV003236985] Chr19:7168029 [GRCh38]
Chr19:7168040 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.989C>A (p.Pro330Gln) single nucleotide variant not provided [RCV002299900] Chr19:7174717 [GRCh38]
Chr19:7174728 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1123+4_1123+17del deletion not provided [RCV003032925] Chr19:7174566..7174579 [GRCh38]
Chr19:7174577..7174590 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.640C>A (p.His214Asn) single nucleotide variant not provided [RCV002690336] Chr19:7267357 [GRCh38]
Chr19:7267368 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3489A>C (p.Arg1163Ser) single nucleotide variant not provided [RCV002843358] Chr19:7122654 [GRCh38]
Chr19:7122665 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2946-20G>A single nucleotide variant not provided [RCV002681777] Chr19:7126671 [GRCh38]
Chr19:7126682 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2214C>T (p.Asn738=) single nucleotide variant not provided [RCV003095581] Chr19:7152743 [GRCh38]
Chr19:7152754 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2267G>A (p.Arg756Lys) single nucleotide variant Inborn genetic diseases [RCV002839585] Chr19:7150497 [GRCh38]
Chr19:7150508 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.509dup (p.Asn170fs) duplication not provided [RCV002881707] Chr19:7267487..7267488 [GRCh38]
Chr19:7267498..7267499 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.665T>C (p.Ile222Thr) single nucleotide variant Inborn genetic diseases [RCV002732597] Chr19:7184625 [GRCh38]
Chr19:7184636 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2599G>A (p.Val867Ile) single nucleotide variant Inborn genetic diseases [RCV002946503] Chr19:7141760 [GRCh38]
Chr19:7141771 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3886C>T (p.Pro1296Ser) single nucleotide variant Inborn genetic diseases [RCV002707940] Chr19:7117319 [GRCh38]
Chr19:7117330 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.241C>G (p.Leu81Val) single nucleotide variant not provided [RCV002825606] Chr19:7267756 [GRCh38]
Chr19:7267767 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2034G>A (p.Leu678=) single nucleotide variant INSR-related disorder [RCV004545387]|not provided [RCV002761393] Chr19:7152923 [GRCh38]
Chr19:7152934 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3991C>T (p.Arg1331Cys) single nucleotide variant Inborn genetic diseases [RCV003070996]|not provided [RCV003053372] Chr19:7117214 [GRCh38]
Chr19:7117225 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.890G>A (p.Arg297Gln) single nucleotide variant Inborn genetic diseases [RCV002782402] Chr19:7184400 [GRCh38]
Chr19:7184411 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.25dup (p.Ala9fs) duplication not provided [RCV002866738] Chr19:7293866..7293867 [GRCh38]
Chr19:7293877..7293878 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.2199G>A (p.Glu733=) single nucleotide variant not provided [RCV002638755] Chr19:7152758 [GRCh38]
Chr19:7152769 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2101G>A (p.Glu701Lys) single nucleotide variant Inborn genetic diseases [RCV002783392] Chr19:7152856 [GRCh38]
Chr19:7152867 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.356C>T (p.Ala119Val) single nucleotide variant INSR-related disorder [RCV004538855]|not provided [RCV002638095] Chr19:7267641 [GRCh38]
Chr19:7267652 [GRCh37]
Chr19:19p13.2		 likely pathogenic|uncertain significance
NM_000208.4(INSR):c.2126G>A (p.Cys709Tyr) single nucleotide variant not provided [RCV003036310] Chr19:7152831 [GRCh38]
Chr19:7152842 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3138C>A (p.Ile1046=) single nucleotide variant not provided [RCV002622120] Chr19:7125403 [GRCh38]
Chr19:7125414 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.101-19T>C single nucleotide variant not provided [RCV002569668] Chr19:7267915 [GRCh38]
Chr19:7267926 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.422G>A (p.Arg141Gln) single nucleotide variant not provided [RCV003054497] Chr19:7267575 [GRCh38]
Chr19:7267586 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.38C>T (p.Pro13Leu) single nucleotide variant not provided [RCV002639916] Chr19:7293854 [GRCh38]
Chr19:7293865 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2674G>A (p.Gly892Ser) single nucleotide variant not provided [RCV002760966] Chr19:7141685 [GRCh38]
Chr19:7141696 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1073G>A (p.Arg358Gln) single nucleotide variant Inborn genetic diseases [RCV002758689] Chr19:7174633 [GRCh38]
Chr19:7174644 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1852_1853delinsCT (p.Asp618Leu) indel not provided [RCV002828239] Chr19:7166162..7166163 [GRCh38]
Chr19:7166173..7166174 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2456G>A (p.Arg819His) single nucleotide variant Inborn genetic diseases [RCV002697491]|not provided [RCV003443138] Chr19:7142902 [GRCh38]
Chr19:7142913 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2362G>A (p.Val788Met) single nucleotide variant Inborn genetic diseases [RCV002765109]|not provided [RCV005060923] Chr19:7142996 [GRCh38]
Chr19:7143007 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.652+19G>T single nucleotide variant not provided [RCV002575461] Chr19:7267326 [GRCh38]
Chr19:7267337 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3918C>T (p.Ser1306=) single nucleotide variant not provided [RCV003005004] Chr19:7117287 [GRCh38]
Chr19:7117298 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1432C>T (p.Arg478Cys) single nucleotide variant not provided [RCV002766371] Chr19:7170588 [GRCh38]
Chr19:7170599 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.739G>A (p.Asp247Asn) single nucleotide variant Inborn genetic diseases [RCV002813616]|not provided [RCV003491279] Chr19:7184551 [GRCh38]
Chr19:7184562 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.4024G>A (p.Gly1342Ser) single nucleotide variant Inborn genetic diseases [RCV002878049] Chr19:7117181 [GRCh38]
Chr19:7117192 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.653-23TC[5] microsatellite not provided [RCV002670847] Chr19:7184641..7184650 [GRCh38]
Chr19:7184652..7184661 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2765G>A (p.Ser922Asn) single nucleotide variant Inborn genetic diseases [RCV002921673] Chr19:7132235 [GRCh38]
Chr19:7132246 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2122G>A (p.Glu708Lys) single nucleotide variant not provided [RCV002597998] Chr19:7152835 [GRCh38]
Chr19:7152846 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.895C>G (p.Gln299Glu) single nucleotide variant Inborn genetic diseases [RCV002897865] Chr19:7184395 [GRCh38]
Chr19:7184406 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.19C>T (p.Arg7Trp) single nucleotide variant Inborn genetic diseases [RCV002807803] Chr19:7293873 [GRCh38]
Chr19:7293884 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.712G>A (p.Glu238Lys) single nucleotide variant not provided [RCV003064541] Chr19:7184578 [GRCh38]
Chr19:7184589 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.100+16C>T single nucleotide variant not provided [RCV002576838] Chr19:7293776 [GRCh38]
Chr19:7293787 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.4086A>G (p.Thr1362=) single nucleotide variant not provided [RCV002746150] Chr19:7117119 [GRCh38]
Chr19:7117130 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2682+6G>T single nucleotide variant not provided [RCV002938154] Chr19:7141671 [GRCh38]
Chr19:7141682 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.608G>A (p.Gly203Glu) single nucleotide variant Inborn genetic diseases [RCV002809473] Chr19:7267389 [GRCh38]
Chr19:7267400 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1238G>A (p.Arg413His) single nucleotide variant Inborn genetic diseases [RCV002935871] Chr19:7172320 [GRCh38]
Chr19:7172331 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1252G>A (p.Glu418Lys) single nucleotide variant Inborn genetic diseases [RCV002723076] Chr19:7172306 [GRCh38]
Chr19:7172317 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.498C>T (p.Ser166=) single nucleotide variant not provided [RCV002613226] Chr19:7267499 [GRCh38]
Chr19:7267510 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1610C>T (p.Ala537Val) single nucleotide variant Inborn genetic diseases [RCV003279884] Chr19:7167968 [GRCh38]
Chr19:7167979 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2792C>T (p.Ala931Val) single nucleotide variant Inborn genetic diseases [RCV003280767] Chr19:7132208 [GRCh38]
Chr19:7132219 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3191G>A (p.Ser1064Asn) single nucleotide variant Inborn genetic diseases [RCV003206600] Chr19:7125350 [GRCh38]
Chr19:7125361 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.4049G>A (p.Gly1350Asp) single nucleotide variant Inborn genetic diseases [RCV003203251] Chr19:7117156 [GRCh38]
Chr19:7117167 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3408G>C (p.Met1136Ile) single nucleotide variant Inborn genetic diseases [RCV003283302] Chr19:7122735 [GRCh38]
Chr19:7122746 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.448A>G (p.Asn150Asp) single nucleotide variant Inborn genetic diseases [RCV003263449] Chr19:7267549 [GRCh38]
Chr19:7267560 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3337A>G (p.Ser1113Gly) single nucleotide variant Inborn genetic diseases [RCV003341339] Chr19:7122911 [GRCh38]
Chr19:7122922 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3485C>T (p.Ala1162Val) single nucleotide variant INSR-related disorder [RCV004536708] Chr19:7122658 [GRCh38]
Chr19:7122669 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1295A>G (p.Asn432Ser) single nucleotide variant Inborn genetic diseases [RCV003377087] Chr19:7170725 [GRCh38]
Chr19:7170736 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1245T>A (p.Ile415=) single nucleotide variant not provided [RCV003874759] Chr19:7172313 [GRCh38]
Chr19:7172324 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.704G>T (p.Cys235Phe) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003447830]|Inborn genetic diseases [RCV004634264] Chr19:7184586 [GRCh38]
Chr19:7184597 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NC_000019.9:g.(?_7112275)_(7123001_7125293)dup duplication not specified [RCV003479576] Chr19:7112275..7123001 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1973T>G (p.Phe658Cys) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV003448860] Chr19:7163088 [GRCh38]
Chr19:7163099 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.796G>A (p.Glu266Lys) single nucleotide variant INSR-related disorder [RCV004529654] Chr19:7184494 [GRCh38]
Chr19:7184505 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2810C>T (p.Thr937Met) single nucleotide variant Leprechaunism syndrome [RCV003389276] Chr19:7132190 [GRCh38]
Chr19:7132201 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.2697C>T (p.Cys899=) single nucleotide variant not provided [RCV003421777] Chr19:7132303 [GRCh38]
Chr19:7132314 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_000208.4(INSR):c.3919G>A (p.Glu1307Lys) single nucleotide variant INSR-related disorder [RCV004531714]|not provided [RCV003732569] Chr19:7117286 [GRCh38]
Chr19:7117297 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3312G>A (p.Glu1104=) single nucleotide variant not specified [RCV003405065] Chr19:7122936 [GRCh38]
Chr19:7122947 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1610+1G>A single nucleotide variant Leprechaunism syndrome [RCV003389275] Chr19:7167967 [GRCh38]
Chr19:7167978 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.595dup (p.Thr199fs) duplication INSR-related disorder [RCV004529819] Chr19:7267401..7267402 [GRCh38]
Chr19:7267412..7267413 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.3094G>A (p.Gly1032Ser) single nucleotide variant not provided [RCV003442507] Chr19:7125447 [GRCh38]
Chr19:7125458 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.601A>G (p.Ile201Val) single nucleotide variant INSR-related disorder [RCV004527868] Chr19:7267396 [GRCh38]
Chr19:7267407 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1093G>A (p.Gly365Arg) single nucleotide variant not provided [RCV003827186] Chr19:7174613 [GRCh38]
Chr19:7174624 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.975-25CT[7] microsatellite not provided [RCV003826584] Chr19:7174744..7174745 [GRCh38]
Chr19:7174755..7174756 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3370-16C>G single nucleotide variant not provided [RCV003882135] Chr19:7122789 [GRCh38]
Chr19:7122800 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1377C>G (p.Pro459=) single nucleotide variant not provided [RCV003830719] Chr19:7170643 [GRCh38]
Chr19:7170654 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.4121T>G (p.Leu1374Arg) single nucleotide variant not provided [RCV003576747] Chr19:7117084 [GRCh38]
Chr19:7117095 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3465T>C (p.Phe1155=) single nucleotide variant INSR-related disorder [RCV004539119]|not provided [RCV003739487] Chr19:7122678 [GRCh38]
Chr19:7122689 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2296G>A (p.Asp766Asn) single nucleotide variant not provided [RCV003824664] Chr19:7143062 [GRCh38]
Chr19:7143073 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.63G>T (p.Leu21=) single nucleotide variant not provided [RCV003831296] Chr19:7293829 [GRCh38]
Chr19:7293840 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2574G>A (p.Thr858=) single nucleotide variant INSR-related disorder [RCV004542244]|not provided [RCV003738651] Chr19:7141785 [GRCh38]
Chr19:7141796 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3633_3634del (p.Val1212fs) deletion not provided [RCV003575869] Chr19:7120645..7120646 [GRCh38]
Chr19:7120656..7120657 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.2901C>T (p.Leu967=) single nucleotide variant not provided [RCV003664305] Chr19:7128896 [GRCh38]
Chr19:7128907 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.84C>G (p.His28Gln) single nucleotide variant not provided [RCV003580793] Chr19:7293808 [GRCh38]
Chr19:7293819 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3356G>A (p.Arg1119Gln) single nucleotide variant Rabson-Mendenhall syndrome [RCV004799075] Chr19:7122892 [GRCh38]
Chr19:7122903 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.2267+8T>A single nucleotide variant not provided [RCV005062517] Chr19:7150489 [GRCh38]
Chr19:7150500 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3203G>A (p.Arg1068Gln) single nucleotide variant Inborn genetic diseases [RCV004371864]|not provided [RCV003699478] Chr19:7125338 [GRCh38]
Chr19:7125349 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.741C>T (p.Asp247=) single nucleotide variant not provided [RCV003840329] Chr19:7184549 [GRCh38]
Chr19:7184560 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3472C>T (p.Arg1158Trp) single nucleotide variant not provided [RCV003560072] Chr19:7122671 [GRCh38]
Chr19:7122682 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.951C>T (p.Ser317=) single nucleotide variant not provided [RCV003717296] Chr19:7184339 [GRCh38]
Chr19:7184350 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.653-23TC[19] microsatellite not provided [RCV003559830] Chr19:7184640..7184641 [GRCh38]
Chr19:7184651..7184652 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2741G>A (p.Arg914His) single nucleotide variant not provided [RCV003667208] Chr19:7132259 [GRCh38]
Chr19:7132270 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.62T>C (p.Leu21Pro) single nucleotide variant not provided [RCV003672259] Chr19:7293830 [GRCh38]
Chr19:7293841 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2375C>T (p.Pro792Leu) single nucleotide variant not provided [RCV003548500] Chr19:7142983 [GRCh38]
Chr19:7142994 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.653-23TC[21] microsatellite not provided [RCV003717671] Chr19:7184640..7184641 [GRCh38]
Chr19:7184651..7184652 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2084A>G (p.Gln695Arg) single nucleotide variant not provided [RCV003724240] Chr19:7152873 [GRCh38]
Chr19:7152884 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.975-9C>T single nucleotide variant not provided [RCV003838720] Chr19:7174740 [GRCh38]
Chr19:7174751 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2029+17G>T single nucleotide variant not provided [RCV003823849] Chr19:7163015 [GRCh38]
Chr19:7163026 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1861+8T>A single nucleotide variant not provided [RCV003822981] Chr19:7166146 [GRCh38]
Chr19:7166157 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.329G>A (p.Arg110Gln) single nucleotide variant not provided [RCV003685116] Chr19:7267668 [GRCh38]
Chr19:7267679 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3435C>T (p.Asp1145=) single nucleotide variant INSR-related disorder [RCV004542226]|not provided [RCV003722501] Chr19:7122708 [GRCh38]
Chr19:7122719 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.952G>A (p.Gly318Arg) single nucleotide variant not provided [RCV003871349] Chr19:7184338 [GRCh38]
Chr19:7184349 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.561G>A (p.Pro187=) single nucleotide variant not provided [RCV003733906] Chr19:7267436 [GRCh38]
Chr19:7267447 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_000208.4(INSR):c.1123+19G>A single nucleotide variant not provided [RCV003869713] Chr19:7174564 [GRCh38]
Chr19:7174575 [GRCh37]
Chr19:19p13.2		 likely benign
GRCh37/hg19 19p13.2(chr19:7071297-7238772)x3 copy number gain not specified [RCV003986128] Chr19:7071297..7238772 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2320G>A (p.Val774Met) single nucleotide variant Inborn genetic diseases [RCV004634278]|not provided [RCV003553239] Chr19:7143038 [GRCh38]
Chr19:7143049 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3370-16C>T single nucleotide variant not provided [RCV003819052] Chr19:7122789 [GRCh38]
Chr19:7122800 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2740C>T (p.Arg914Cys) single nucleotide variant not provided [RCV003737147] Chr19:7132260 [GRCh38]
Chr19:7132271 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2518G>A (p.Val840Ile) single nucleotide variant not provided [RCV003719533] Chr19:7142840 [GRCh38]
Chr19:7142851 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.653-7T>C single nucleotide variant not provided [RCV003737811] Chr19:7184644 [GRCh38]
Chr19:7184655 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2178C>A (p.Ser726=) single nucleotide variant INSR-related disorder [RCV004536898] Chr19:7152779 [GRCh38]
Chr19:7152790 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1254G>C (p.Glu418Asp) single nucleotide variant INSR-related disorder [RCV004542613] Chr19:7172304 [GRCh38]
Chr19:7172315 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1379A>C (p.Lys460Thr) single nucleotide variant INSR-related disorder [RCV004539228] Chr19:7170641 [GRCh38]
Chr19:7170652 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.297G>T (p.Leu99=) single nucleotide variant INSR-related disorder [RCV004539248] Chr19:7267700 [GRCh38]
Chr19:7267711 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1884A>G (p.Pro628=) single nucleotide variant INSR-related disorder [RCV004539497] Chr19:7163177 [GRCh38]
Chr19:7163188 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1032C>T (p.Gly344=) single nucleotide variant INSR-related disorder [RCV004534539] Chr19:7174674 [GRCh38]
Chr19:7174685 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1588T>G (p.Phe530Val) single nucleotide variant not provided [RCV004722367] Chr19:7167990 [GRCh38]
Chr19:7168001 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1233G>A (p.Lys411=) single nucleotide variant INSR-related disorder [RCV004540781] Chr19:7172325 [GRCh38]
Chr19:7172336 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1980G>C (p.Glu660Asp) single nucleotide variant Inborn genetic diseases [RCV004398282] Chr19:7163081 [GRCh38]
Chr19:7163092 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2309T>C (p.Val770Ala) single nucleotide variant Inborn genetic diseases [RCV004398283] Chr19:7143049 [GRCh38]
Chr19:7143060 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3885C>G (p.His1295Gln) single nucleotide variant Inborn genetic diseases [RCV004398284] Chr19:7117320 [GRCh38]
Chr19:7117331 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1649C>T (p.Ala550Val) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV004362766] Chr19:7166366 [GRCh38]
Chr19:7166377 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3868C>T (p.Leu1290Phe) single nucleotide variant not specified [RCV004690645] Chr19:7117337 [GRCh38]
Chr19:7117348 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.9:g.(?_5691310)_(8008536_?)dup duplication not provided [RCV004579685] Chr19:5691310..8008536 [GRCh37]
Chr19:19p13.3-13.2		 uncertain significance
NM_000208.4(INSR):c.2364G>T (p.Val788=) single nucleotide variant not specified [RCV004690984] Chr19:7142994 [GRCh38]
Chr19:7143005 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3080G>A (p.Arg1027Gln) single nucleotide variant Inborn genetic diseases [RCV004630795] Chr19:7125461 [GRCh38]
Chr19:7125472 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2224G>A (p.Val742Ile) single nucleotide variant Inborn genetic diseases [RCV004630796] Chr19:7152733 [GRCh38]
Chr19:7152744 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1933C>A (p.Pro645Thr) single nucleotide variant Inborn genetic diseases [RCV004630797] Chr19:7163128 [GRCh38]
Chr19:7163139 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3880C>G (p.Leu1294Val) single nucleotide variant Inborn genetic diseases [RCV004630798] Chr19:7117325 [GRCh38]
Chr19:7117336 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3420G>A (p.Ala1140=) single nucleotide variant Inborn genetic diseases [RCV004630800] Chr19:7122723 [GRCh38]
Chr19:7122734 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1192C>T (p.Arg398Cys) single nucleotide variant not provided [RCV004573095] Chr19:7172366 [GRCh38]
Chr19:7172377 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1477G>T (p.Ala493Ser) single nucleotide variant not specified [RCV004690644] Chr19:7170543 [GRCh38]
Chr19:7170554 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2830G>A (p.Val944Met) single nucleotide variant Inborn genetic diseases [RCV004626419]|not provided [RCV005059672] Chr19:7132170 [GRCh38]
Chr19:7132181 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3530A>G (p.Asp1177Gly) single nucleotide variant not provided [RCV004697683] Chr19:7120749 [GRCh38]
Chr19:7120760 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3601C>G (p.Arg1201Gly) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV004797071] Chr19:7120678 [GRCh38]
Chr19:7120689 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.3498G>C (p.Met1166Ile) single nucleotide variant Leprechaunism syndrome [RCV004720732] Chr19:7122645 [GRCh38]
Chr19:7122656 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.3689_3691del (p.Thr1230del) deletion not provided [RCV004781131] Chr19:7119552..7119554 [GRCh38]
Chr19:7119563..7119565 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.553A>G (p.Ile185Val) single nucleotide variant INSR-related disorder [RCV004735097] Chr19:7267444 [GRCh38]
Chr19:7267455 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3173C>T (p.Thr1058Met) single nucleotide variant INSR-related disorder [RCV004735350] Chr19:7125368 [GRCh38]
Chr19:7125379 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1926G>A (p.Trp642Ter) single nucleotide variant INSR-related disorder [RCV004724470] Chr19:7163135 [GRCh38]
Chr19:7163146 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.3055T>C (p.Ser1019Pro) single nucleotide variant not provided [RCV004722528] Chr19:7125486 [GRCh38]
Chr19:7125497 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3802C>G (p.Leu1268Val) single nucleotide variant INSR-related disorder [RCV004735338] Chr19:7117403 [GRCh38]
Chr19:7117414 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1428G>A (p.Lys476=) single nucleotide variant INSR-related disorder [RCV004735190] Chr19:7170592 [GRCh38]
Chr19:7170603 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.836G>A (p.Arg279His) single nucleotide variant not provided [RCV004719418] Chr19:7184454 [GRCh38]
Chr19:7184465 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.528A>C (p.Lys176Asn) single nucleotide variant not provided [RCV004773764] Chr19:7267469 [GRCh38]
Chr19:7267480 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3610G>A (p.Ala1204Thr) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV004720193] Chr19:7120669 [GRCh38]
Chr19:7120680 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.3196C>T (p.Arg1066Ter) single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV004720194] Chr19:7125345 [GRCh38]
Chr19:7125356 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_000208.4(INSR):c.1610+5G>A single nucleotide variant Hyperinsulinism due to INSR deficiency [RCV005052203] Chr19:7167963 [GRCh38]
Chr19:7167974 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.106C>G (p.Pro36Ala) single nucleotide variant Inborn genetic diseases [RCV004987864] Chr19:7267891 [GRCh38]
Chr19:7267902 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.538G>A (p.Glu180Lys) single nucleotide variant Inborn genetic diseases [RCV004987861] Chr19:7267459 [GRCh38]
Chr19:7267470 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3774C>T (p.Pro1258=) single nucleotide variant Inborn genetic diseases [RCV004987866] Chr19:7119469 [GRCh38]
Chr19:7119480 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3192T>G (p.Ser1064Arg) single nucleotide variant Inborn genetic diseases [RCV004987862] Chr19:7125349 [GRCh38]
Chr19:7125360 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3812T>C (p.Met1271Thr) single nucleotide variant Inborn genetic diseases [RCV004987863] Chr19:7117393 [GRCh38]
Chr19:7117404 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.137G>A (p.Arg46Lys) single nucleotide variant Inborn genetic diseases [RCV004987865] Chr19:7267860 [GRCh38]
Chr19:7267871 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.370G>A (p.Glu124Lys) single nucleotide variant Inborn genetic diseases [RCV004987867]|not provided [RCV005110378] Chr19:7267627 [GRCh38]
Chr19:7267638 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1340C>T (p.Thr447Ile) single nucleotide variant Inborn genetic diseases [RCV004987868] Chr19:7170680 [GRCh38]
Chr19:7170691 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2296G>C (p.Asp766His) single nucleotide variant Inborn genetic diseases [RCV004987869] Chr19:7143062 [GRCh38]
Chr19:7143073 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1769C>T (p.Ala590Val) single nucleotide variant Inborn genetic diseases [RCV004987870] Chr19:7166246 [GRCh38]
Chr19:7166257 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2107G>A (p.Glu703Lys) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV005028746] Chr19:7152850 [GRCh38]
Chr19:7152861 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3615G>C (p.Pro1205=) single nucleotide variant not provided [RCV005175763] Chr19:7120664 [GRCh38]
Chr19:7120675 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.4058G>A (p.Arg1353Gln) single nucleotide variant not provided [RCV005088922] Chr19:7117147 [GRCh38]
Chr19:7117158 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1266T>C (p.Ile422=) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV005015957] Chr19:7172292 [GRCh38]
Chr19:7172303 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.359T>C (p.Leu120Pro) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV005015958] Chr19:7267638 [GRCh38]
Chr19:7267649 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.1917T>C (p.Ile639=) single nucleotide variant not provided [RCV005172667] Chr19:7163144 [GRCh38]
Chr19:7163155 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.781G>T (p.Asp261Tyr) single nucleotide variant not provided [RCV005065588] Chr19:7184509 [GRCh38]
Chr19:7184520 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2184T>C (p.Phe728=) single nucleotide variant not provided [RCV005087090] Chr19:7152773 [GRCh38]
Chr19:7152784 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3283A>G (p.Lys1095Glu) single nucleotide variant INSR-related disorder [RCV005229574] Chr19:7122965 [GRCh38]
Chr19:7122976 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2313G>A (p.Thr771=) single nucleotide variant not provided [RCV005065595] Chr19:7143045 [GRCh38]
Chr19:7143056 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2151_2152del (p.Gln718fs) microsatellite Rabson-Mendenhall syndrome [RCV005054030] Chr19:7152805..7152806 [GRCh38]
Chr19:7152816..7152817 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.975-25CT[4] microsatellite not provided [RCV005063786] Chr19:7174745..7174748 [GRCh38]
Chr19:7174756..7174759 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2408A>G (p.Asn803Ser) single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV005015956] Chr19:7142950 [GRCh38]
Chr19:7142961 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3488G>A (p.Arg1163Lys) AND Insulin-resistant diabetes mellitus single nucleotide variant Insulin-resistant diabetes mellitus AND acanthosis nigricans [RCV005054515] Chr19:7122655 [GRCh38]
Chr19:7122666 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_000208.4(INSR):c.270C>T (p.Leu90=) single nucleotide variant not provided [RCV005191383] Chr19:7267727 [GRCh38]
Chr19:7267738 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3332_3346del (p.Leu1111_Leu1115del) deletion not provided [RCV005134145] Chr19:7122902..7122916 [GRCh38]
Chr19:7122913..7122927 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2354C>T (p.Ser785Leu) single nucleotide variant not provided [RCV005113086] Chr19:7143004 [GRCh38]
Chr19:7143015 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.4072C>T (p.His1358Tyr) single nucleotide variant not provided [RCV005076042] Chr19:7117133 [GRCh38]
Chr19:7117144 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.100+9G>A single nucleotide variant not provided [RCV005069049] Chr19:7293783 [GRCh38]
Chr19:7293794 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2223C>T (p.Phe741=) single nucleotide variant not provided [RCV005192215] Chr19:7152734 [GRCh38]
Chr19:7152745 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2542+17G>A single nucleotide variant not provided [RCV005081453] Chr19:7142799 [GRCh38]
Chr19:7142810 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2877C>T (p.Ile959=) single nucleotide variant not provided [RCV005068299] Chr19:7128920 [GRCh38]
Chr19:7128931 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.3659+5G>T single nucleotide variant not provided [RCV005204336] Chr19:7120615 [GRCh38]
Chr19:7120626 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2543-9T>C single nucleotide variant not provided [RCV005184321] Chr19:7141825 [GRCh38]
Chr19:7141836 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1237C>T (p.Arg413Cys) single nucleotide variant not provided [RCV005084441] Chr19:7172321 [GRCh38]
Chr19:7172332 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2946-15G>A single nucleotide variant not provided [RCV005076590] Chr19:7126666 [GRCh38]
Chr19:7126677 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.1268+4C>T single nucleotide variant not provided [RCV005179872] Chr19:7172286 [GRCh38]
Chr19:7172297 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.607G>A (p.Gly203Arg) single nucleotide variant not provided [RCV005078427] Chr19:7267390 [GRCh38]
Chr19:7267401 [GRCh37]
Chr19:19p13.2		 benign
NM_000208.4(INSR):c.2682+16C>G single nucleotide variant not provided [RCV005121224] Chr19:7141661 [GRCh38]
Chr19:7141672 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.875A>C (p.Lys292Thr) single nucleotide variant not provided [RCV005128872] Chr19:7184415 [GRCh38]
Chr19:7184426 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.15C>G (p.Gly5=) single nucleotide variant not provided [RCV005156977] Chr19:7293877 [GRCh38]
Chr19:7293888 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.2259G>C (p.Glu753Asp) single nucleotide variant not provided [RCV005071326] Chr19:7150505 [GRCh38]
Chr19:7150516 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3499G>A (p.Val1167Ile) single nucleotide variant not provided [RCV005127450] Chr19:7122644 [GRCh38]
Chr19:7122655 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.3436G>A (p.Gly1146Arg) single nucleotide variant not provided [RCV005203611] Chr19:7122707 [GRCh38]
Chr19:7122718 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2115G>A (p.Ser705=) single nucleotide variant not provided [RCV005149914] Chr19:7152842 [GRCh38]
Chr19:7152853 [GRCh37]
Chr19:19p13.2		 likely benign
NM_000208.4(INSR):c.653-23TC[18] microsatellite not provided [RCV005200313] Chr19:7184640..7184641 [GRCh38]
Chr19:7184651..7184652 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_000208.4(INSR):c.2164G>T (p.Glu722Ter) single nucleotide variant not provided [RCV005115121] Chr19:7152793 [GRCh38]
Chr19:7152804 [GRCh37]
Chr19:19p13.2		 pathogenic
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2878
Count of miRNA genes:1225
Interacting mature miRNAs:1557
Transcripts:ENST00000302850, ENST00000341500, ENST00000593970, ENST00000597211, ENST00000598216, ENST00000600492, ENST00000601099
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597157268GWAS1253342_Htriglyceride:HDL cholesterol ratio QTL GWAS1253342 (human)4e-17blood triglyceride amount (VT:0002644)1972226447222645Human
597315481GWAS1411555_Hsystolic blood pressure QTL GWAS1411555 (human)5e-32systolic blood pressuresystolic blood pressure (CMO:0000004)1972579797257980Human
597207453GWAS1303527_Hbirth weight QTL GWAS1303527 (human)2e-12birth weightneonatal body weight (CMO:0002079)1971618387161839Human
597245328GWAS1341402_Hsex hormone-binding globulin measurement QTL GWAS1341402 (human)2e-11sex hormone-binding globulin measurement1972304277230428Human
597034907GWAS1130981_Hhigh density lipoprotein cholesterol measurement QTL GWAS1130981 (human)2e-13high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1972200027220003Human
597116825GWAS1212899_Hclostridium difficile infection QTL GWAS1212899 (human)0.000003clostridium difficile infection1971704947170495Human
597028736GWAS1124810_Hhigh density lipoprotein cholesterol measurement QTL GWAS1124810 (human)0.000008high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1972223667222367Human
597334927GWAS1431001_Hcolorectal cancer, hormone replacement therapy QTL GWAS1431001 (human)0.000004colorectal cancer, hormone replacement therapy1972526027252603Human
597254016GWAS1350090_Hserum alanine aminotransferase measurement QTL GWAS1350090 (human)1e-09serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)1972237747223775Human
597019023GWAS1115097_HBMI-adjusted hip circumference QTL GWAS1115097 (human)0.0000003BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971847517184752Human
597271426GWAS1367500_Hsystolic blood pressure QTL GWAS1367500 (human)5e-44systolic blood pressuresystolic blood pressure (CMO:0000004)1972579797257980Human
597284229GWAS1380303_Hhigh density lipoprotein cholesterol measurement QTL GWAS1380303 (human)6e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1972239627223963Human
597592451GWAS1649311_Hhigh density lipoprotein cholesterol measurement QTL GWAS1649311 (human)3e-29high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1972238377223838Human
597063560GWAS1159634_Hrenal cell carcinoma QTL GWAS1159634 (human)0.0000005renal cell carcinoma1971902797190280Human
596968330GWAS1087849_Hsystolic blood pressure QTL GWAS1087849 (human)3e-55systolic blood pressure1972579797257980Human
597062582GWAS1158656_Hsystolic blood pressure QTL GWAS1158656 (human)0.000003systolic blood pressuresystolic blood pressure (CMO:0000004)1972527457252746Human
597164987GWAS1261061_HBMI-adjusted waist-hip ratio QTL GWAS1261061 (human)2e-15body size trait (VT:0100005)1971255087125509Human
406918242GWAS567218_Hsystolic blood pressure QTL GWAS567218 (human)3e-08systolic blood pressuresystolic blood pressure (CMO:0000004)1972583947258395Human
597164988GWAS1261062_HBMI-adjusted waist-hip ratio QTL GWAS1261062 (human)1e-08body size trait (VT:0100005)1971835407183541Human
597164989GWAS1261063_HBMI-adjusted waist-hip ratio QTL GWAS1261063 (human)1e-08body size trait (VT:0100005)1971645897164590Human
597197757GWAS1293831_Huric acid measurement QTL GWAS1293831 (human)3e-09uric acid measurementblood uric acid level (CMO:0000501)1971808117180812Human
597164990GWAS1261064_HBMI-adjusted waist-hip ratio QTL GWAS1261064 (human)4e-15body size trait (VT:0100005)1971821607182161Human
406999652GWAS648628_Hreticulocyte measurement QTL GWAS648628 (human)5e-13reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)1972239627223963Human
597164991GWAS1261065_HBMI-adjusted waist-hip ratio QTL GWAS1261065 (human)1e-13body size trait (VT:0100005)1971839157183916Human
597156784GWAS1252858_Htriglyceride:HDL cholesterol ratio QTL GWAS1252858 (human)3e-21blood triglyceride amount (VT:0002644)1972226447222645Human
597249456GWAS1345530_HBMI-adjusted hip circumference QTL GWAS1345530 (human)2e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)1972200027220003Human
407073898GWAS722874_Htriglyceride measurement, alcohol drinking QTL GWAS722874 (human)8e-12triglyceride measurement, alcohol drinkingblood triglyceride level (CMO:0000118)1972223667222367Human
597347252GWAS1443326_Hbody fat percentage QTL GWAS1443326 (human)2e-09body fat mass (VT:0010482)body fat percentage (CMO:0000302)1972261337226134Human
597249449GWAS1345523_HBMI-adjusted hip circumference QTL GWAS1345523 (human)2e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971659957165996Human
597249451GWAS1345525_HBMI-adjusted hip circumference QTL GWAS1345525 (human)4e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971837867183787Human
406991472GWAS640448_Hreticulocyte count QTL GWAS640448 (human)3e-12reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)1972205857220586Human
597249450GWAS1345524_HBMI-adjusted hip circumference QTL GWAS1345524 (human)1e-12BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971821607182161Human
597163940GWAS1260014_Hgoiter QTL GWAS1260014 (human)2e-15goiter1972238377223838Human
597249453GWAS1345527_HBMI-adjusted hip circumference QTL GWAS1345527 (human)1e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)1972024217202422Human
597249452GWAS1345526_HBMI-adjusted hip circumference QTL GWAS1345526 (human)6e-12BMI-adjusted hip circumferencehip circumference (CMO:0000014)1972074647207465Human
597249455GWAS1345529_HBMI-adjusted hip circumference QTL GWAS1345529 (human)5e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)1972261337226134Human
597249454GWAS1345528_HBMI-adjusted hip circumference QTL GWAS1345528 (human)1e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)1972186247218625Human
407027323GWAS676299_Hdiabetic retinopathy QTL GWAS676299 (human)0.000003diabetic retinopathy1971965547196555Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human
597091241GWAS1187315_HBMI-adjusted hip circumference QTL GWAS1187315 (human)1e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971847517184752Human
407073916GWAS722892_Htriglyceride measurement, alcohol drinking QTL GWAS722892 (human)2e-08triglyceride measurement, alcohol drinkingblood triglyceride level (CMO:0000118)1972223667222367Human
406963205GWAS612181_Hhypothyroidism QTL GWAS612181 (human)0.0000001hypothyroidism1972228217222822Human
597085139GWAS1181213_Htype 2 diabetes mellitus QTL GWAS1181213 (human)8e-14type 2 diabetes mellitus1972408377240838Human
596975568GWAS1095087_Hhypertension QTL GWAS1095087 (human)6e-19hypertension1972579797257980Human
597269470GWAS1365544_Htriglyceride measurement QTL GWAS1365544 (human)2e-32triglyceride measurementblood triglyceride level (CMO:0000118)1972237747223775Human
597595090GWAS1651950_Hhematocrit QTL GWAS1651950 (human)1e-12hematocrithematocrit (CMO:0000037)1972117177211718Human
596987865GWAS1107384_Hthyroid stimulating hormone measurement QTL GWAS1107384 (human)1e-20thyroid stimulating hormone measurement1972237747223775Human
597251540GWAS1347614_HBMI-adjusted hip circumference QTL GWAS1347614 (human)5e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)1972077207207721Human
597207509GWAS1303583_HDiuretic use measurement QTL GWAS1303583 (human)9e-18Diuretic use measurement1972579797257980Human
597192150GWAS1288224_Hfree androgen index QTL GWAS1288224 (human)1e-13free androgen index1972205857220586Human
597117400GWAS1213474_Huric acid measurement QTL GWAS1213474 (human)5e-08uric acid measurementblood uric acid level (CMO:0000501)1971999287199929Human
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
597156807GWAS1252881_Htriglyceride:HDL cholesterol ratio QTL GWAS1252881 (human)0.0000008blood triglyceride amount (VT:0002644)1972226447222645Human
597324746GWAS1420820_Hhigh density lipoprotein cholesterol measurement QTL GWAS1420820 (human)4e-20high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1972386707238671Human
596963776GWAS1083295_Htype 2 diabetes mellitus QTL GWAS1083295 (human)2e-09type 2 diabetes mellitus1972168977216898Human
597587912GWAS1644772_Hmultinodular goiter QTL GWAS1644772 (human)3e-28multinodular goiter1972354397235440Human
597164992GWAS1261066_HBMI-adjusted waist-hip ratio QTL GWAS1261066 (human)9e-14body size trait (VT:0100005)1971939697193972Human
597164993GWAS1261067_HBMI-adjusted waist-hip ratio QTL GWAS1261067 (human)2e-10body size trait (VT:0100005)blood amino acid measurement (CMO:0003730)1972107997210800Human
597164994GWAS1261068_HBMI-adjusted waist-hip ratio QTL GWAS1261068 (human)4e-08body size trait (VT:0100005)1972186247218625Human
597586882GWAS1643742_Hdiastolic blood pressure QTL GWAS1643742 (human)1e-17diastolic blood pressurediastolic blood pressure (CMO:0000005)1972562347256235Human
597295610GWAS1391684_Hmean arterial pressure QTL GWAS1391684 (human)1e-31mean arterial pressuremean arterial blood pressure (CMO:0000009)1972579797257980Human
597416952GWAS1513026_Hgout QTL GWAS1513026 (human)3e-18gout1972113007211301Human
597026803GWAS1122877_Hsystolic blood pressure, alcohol drinking QTL GWAS1122877 (human)2e-34systolic blood pressure, alcohol drinkingsystolic blood pressure (CMO:0000004)1972579797257980Human
597079537GWAS1175611_HRed cell distribution width QTL GWAS1175611 (human)1e-10Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)1971825347182535Human
596976639GWAS1096158_Hbody height QTL GWAS1096158 (human)2e-13body height1971142027114203Human
597019646GWAS1115720_Hsmoking status measurement, diastolic blood pressure QTL GWAS1115720 (human)6e-19smoking status measurement, diastolic blood pressurediastolic blood pressure (CMO:0000005)1972527457252746Human
597447152GWAS1543226_Hsystolic blood pressure QTL GWAS1543226 (human)1e-59systolic blood pressuresystolic blood pressure (CMO:0000004)1972556907255691Human
597447153GWAS1543227_Hsystolic blood pressure QTL GWAS1543227 (human)1e-08systolic blood pressuresystolic blood pressure (CMO:0000004)1972619057261906Human
597098488GWAS1194562_Htestosterone measurement QTL GWAS1194562 (human)5e-12testosterone measurementserum testosterone level (CMO:0000568)1972189117218912Human
597447154GWAS1543228_Hsystolic blood pressure QTL GWAS1543228 (human)4e-09systolic blood pressuresystolic blood pressure (CMO:0000004)1972668677266868Human
597447155GWAS1543229_Hsystolic blood pressure QTL GWAS1543229 (human)7e-09systolic blood pressuresystolic blood pressure (CMO:0000004)1972887607288761Human
596978149GWAS1097668_Hbody height QTL GWAS1097668 (human)6e-20body height1972142717214272Human
597618668GWAS1675528_Hhypertension QTL GWAS1675528 (human)9e-21hypertension1972579797257980Human
597447151GWAS1543225_Hsystolic blood pressure QTL GWAS1543225 (human)1e-13systolic blood pressuresystolic blood pressure (CMO:0000004)1972306647230665Human
406932021GWAS580997_Hpulse pressure measurement QTL GWAS580997 (human)2e-13pulse pressure measurementpulse pressure (CMO:0000292)1972430737243074Human
596979693GWAS1099212_Hbody height QTL GWAS1099212 (human)1e-36body height1971837867183787Human
597159919GWAS1255993_Hglycine measurement QTL GWAS1255993 (human)3e-08glycine measurementblood amino acid measurement (CMO:0003730)1971979207197921Human
597220323GWAS1316397_HBMI-adjusted waist circumference QTL GWAS1316397 (human)2e-11body size trait (VT:0100005)1971255087125509Human
597582309GWAS1639169_Hdiastolic blood pressure QTL GWAS1639169 (human)3e-31diastolic blood pressurediastolic blood pressure (CMO:0000005)1972579797257980Human
597305830GWAS1401904_HBMI-adjusted waist circumference QTL GWAS1401904 (human)1e-12body size trait (VT:0100005)1971255087125509Human
597264868GWAS1360942_HBMI-adjusted waist-hip ratio QTL GWAS1360942 (human)1e-10body size trait (VT:0100005)1971255077125508Human
597025768GWAS1121842_Halcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS1121842 (human)3e-08alcohol drinking, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1972223667222367Human
407000124GWAS649100_Hdiastolic blood pressure QTL GWAS649100 (human)5e-22diastolic blood pressurediastolic blood pressure (CMO:0000005)1972593357259336Human
597075944GWAS1172018_Hchildhood onset asthma QTL GWAS1172018 (human)0.000007childhood onset asthma1972645387264539Human
597265688GWAS1361762_HBMI-adjusted hip circumference QTL GWAS1361762 (human)2e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)1972430737243074Human
597110036GWAS1206110_HCalcium channel blocker use measurement QTL GWAS1206110 (human)3e-19Calcium channel blocker use measurement1972579797257980Human
597265681GWAS1361755_HBMI-adjusted hip circumference QTL GWAS1361755 (human)1e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971852877185288Human
597265680GWAS1361754_HBMI-adjusted hip circumference QTL GWAS1361754 (human)7e-15BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971921707192171Human
597590295GWAS1647155_Hmultinodular goiter QTL GWAS1647155 (human)2e-32multinodular goiter1972354397235440Human
597265683GWAS1361757_HBMI-adjusted hip circumference QTL GWAS1361757 (human)5e-15BMI-adjusted hip circumferencehip circumference (CMO:0000014)1972077207207721Human
597265682GWAS1361756_HBMI-adjusted hip circumference QTL GWAS1361756 (human)1e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)1972105587210559Human
597265685GWAS1361759_HBMI-adjusted hip circumference QTL GWAS1361759 (human)2e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)1972243397224340Human
597265684GWAS1361758_HBMI-adjusted hip circumference QTL GWAS1361758 (human)1e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)1972060627206063Human
597265687GWAS1361761_HBMI-adjusted hip circumference QTL GWAS1361761 (human)3e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)1972204037220404Human
597265686GWAS1361760_HBMI-adjusted hip circumference QTL GWAS1361760 (human)5e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)1972142717214272Human
597296906GWAS1392980_Htype 2 diabetes mellitus QTL GWAS1392980 (human)2e-09type 2 diabetes mellitus1972168977216898Human
597076742GWAS1172816_Hpulse pressure measurement QTL GWAS1172816 (human)3e-10pulse pressure measurementpulse pressure (CMO:0000292)1972244207224421Human
597120262GWAS1216336_Htriglyceride measurement QTL GWAS1216336 (human)9e-13triglyceride measurementblood triglyceride level (CMO:0000118)1971255077125508Human
597265677GWAS1361751_HBMI-adjusted hip circumference QTL GWAS1361751 (human)1e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971660987166099Human
597604618GWAS1661478_Htriglyceride measurement QTL GWAS1661478 (human)2e-27triglyceride measurementblood triglyceride level (CMO:0000118)1972238377223838Human
597265676GWAS1361750_HBMI-adjusted hip circumference QTL GWAS1361750 (human)7e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971651277165133Human
407405277GWAS1054253_Hobsolete_red blood cell distribution width QTL GWAS1054253 (human)1e-11obsolete_red blood cell distribution width1971825347182535Human
597199629GWAS1295703_Hdiastolic blood pressure QTL GWAS1295703 (human)1e-73diastolic blood pressurediastolic blood pressure (CMO:0000005)1972579797257980Human
597265679GWAS1361753_HBMI-adjusted hip circumference QTL GWAS1361753 (human)8e-15BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971785067178507Human
597199630GWAS1295704_Hdiastolic blood pressure QTL GWAS1295704 (human)6e-15diastolic blood pressurediastolic blood pressure (CMO:0000005)1972583947258395Human
597265678GWAS1361752_HBMI-adjusted hip circumference QTL GWAS1361752 (human)7e-17BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971821607182161Human
597070606GWAS1166680_HBMI-adjusted hip circumference QTL GWAS1166680 (human)0.0000001BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971848107184811Human
597293314GWAS1389388_Hsize QTL GWAS1389388 (human)1e-12size1971839157183916Human
597091597GWAS1187671_HBMI-adjusted hip circumference QTL GWAS1187671 (human)0.000007BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971847517184752Human
597156620GWAS1252694_Htriglyceride:HDL cholesterol ratio QTL GWAS1252694 (human)6e-10blood triglyceride amount (VT:0002644)1972931087293109Human
597212934GWAS1309008_Htriglyceride measurement QTL GWAS1309008 (human)3e-14triglyceride measurementblood triglyceride level (CMO:0000118)1972200027220003Human
597459772GWAS1555846_Hdiastolic blood pressure QTL GWAS1555846 (human)7e-10diastolic blood pressurediastolic blood pressure (CMO:0000005)1972887607288761Human
597035831GWAS1131905_Htype 2 diabetes mellitus QTL GWAS1131905 (human)3e-08type 2 diabetes mellitus1972408377240838Human
597046580GWAS1142654_HRed cell distribution width QTL GWAS1142654 (human)3e-12Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)1971821687182169Human
597158709GWAS1254783_Htriglyceride:HDL cholesterol ratio QTL GWAS1254783 (human)3e-09blood triglyceride amount (VT:0002644)1971955287195529Human
596954422GWAS1073941_Hhypertension QTL GWAS1073941 (human)9e-26hypertension1972579797257980Human
597459769GWAS1555843_Hdiastolic blood pressure QTL GWAS1555843 (human)4e-08diastolic blood pressurediastolic blood pressure (CMO:0000005)1972404707240471Human
597459770GWAS1555844_Hdiastolic blood pressure QTL GWAS1555844 (human)5e-55diastolic blood pressurediastolic blood pressure (CMO:0000005)1972556907255691Human
596950835GWAS1070354_HRed cell distribution width QTL GWAS1070354 (human)1e-11Red cell distribution width1971825347182535Human
406919910GWAS568886_Hsystolic blood pressure QTL GWAS568886 (human)1e-25systolic blood pressuresystolic blood pressure (CMO:0000004)1972562327256233Human
597459771GWAS1555845_Hdiastolic blood pressure QTL GWAS1555845 (human)9e-10diastolic blood pressurediastolic blood pressure (CMO:0000005)1972668677266868Human
597034814GWAS1130888_Htriglyceride measurement QTL GWAS1130888 (human)9e-12triglyceride measurementblood triglyceride level (CMO:0000118)1971893647189365Human
597111613GWAS1207687_Hurate measurement QTL GWAS1207687 (human)3e-08urate measurementblood uric acid level (CMO:0000501)1972113007211301Human
597322033GWAS1418107_Hhigh density lipoprotein cholesterol measurement QTL GWAS1418107 (human)1e-13high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1972384647238465Human
597345078GWAS1441152_Hbody fat percentage QTL GWAS1441152 (human)3e-13body fat mass (VT:0010482)body fat percentage (CMO:0000302)1972317757231781Human
597143353GWAS1239427_Hhigh density lipoprotein cholesterol measurement QTL GWAS1239427 (human)0.000006high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1971499367149937Human
406959855GWAS608831_Htriglyceride measurement QTL GWAS608831 (human)6e-10triglyceride measurementblood triglyceride level (CMO:0000118)1972244207224421Human
596962107GWAS1081626_Hmetabolic syndrome QTL GWAS1081626 (human)4e-14metabolic syndrome1972238377223838Human
597312297GWAS1408371_Hsystolic blood pressure QTL GWAS1408371 (human)4e-14systolic blood pressuresystolic blood pressure (CMO:0000004)1972243397224340Human
597191981GWAS1288055_Hfree androgen index QTL GWAS1288055 (human)5e-10free androgen index1972196867219687Human
596962082GWAS1081601_Hmetabolic syndrome QTL GWAS1081601 (human)4e-08metabolic syndrome1971999287199929Human
597294895GWAS1390969_Hhematocrit QTL GWAS1390969 (human)3e-08hematocrithematocrit (CMO:0000037)1972119597211960Human
597085473GWAS1181547_Htype 2 diabetes mellitus QTL GWAS1181547 (human)4e-08type 2 diabetes mellitus1972931087293109Human
596962083GWAS1081602_Hmetabolic syndrome QTL GWAS1081602 (human)4e-12metabolic syndrome1972931087293109Human
597032236GWAS1128310_Hwaist-hip ratio QTL GWAS1128310 (human)0.000001waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)1971255087125509Human
597093164GWAS1189238_Htriglyceride measurement QTL GWAS1189238 (human)5e-10testosterone measurementserum testosterone level (CMO:0000568)1972244207224421Human
597426977GWAS1523051_Hgout QTL GWAS1523051 (human)2e-18gout1972113007211301Human
597419812GWAS1515886_Hurate measurement QTL GWAS1515886 (human)2e-45urate measurementblood uric acid level (CMO:0000501)1972113007211301Human
597598558GWAS1655418_Hhemoglobin measurement QTL GWAS1655418 (human)2e-15hemoglobin measurementhemoglobin measurement (CMO:0000508)1972117177211718Human
597582168GWAS1639028_Hdiastolic blood pressure QTL GWAS1639028 (human)3e-16diastolic blood pressurediastolic blood pressure (CMO:0000005)1972579797257980Human
597317974GWAS1414048_Hbody surface area QTL GWAS1414048 (human)9e-14body surface area1971932047193205Human
597290314GWAS1386388_Hhypertension QTL GWAS1386388 (human)9e-26hypertension1972579797257980Human
597151054GWAS1247128_Hsystolic blood pressure QTL GWAS1247128 (human)1e-09systolic blood pressuresystolic blood pressure (CMO:0000004)1972204037220404Human
597061962GWAS1158036_HBMI-adjusted hip circumference QTL GWAS1158036 (human)0.000009BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971928527192853Human
597117257GWAS1213331_Hdiffusing capacity of the lung for carbon monoxide QTL GWAS1213331 (human)0.000006diffusing capacity of the lung for carbon monoxide1971936817193682Human
407384215GWAS1033191_Hobsolete_red blood cell distribution width QTL GWAS1033191 (human)1e-10obsolete_red blood cell distribution width1971825347182535Human
597592444GWAS1649304_Hhigh density lipoprotein cholesterol measurement QTL GWAS1649304 (human)2e-29high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1972238377223838Human
597606778GWAS1663638_Htriglyceride measurement QTL GWAS1663638 (human)1e-40triglyceride measurementblood triglyceride level (CMO:0000118)1972238377223838Human
597587323GWAS1644183_Hthyroid disease, drug use measurement QTL GWAS1644183 (human)4e-12thyroid disease, drug use measurement1972228217222822Human
597217648GWAS1313722_Hpulse pressure measurement QTL GWAS1313722 (human)3e-25pulse pressure measurement1972354397235440Human
597270897GWAS1366971_Hpulse pressure measurement QTL GWAS1366971 (human)2e-17pulse pressure measurementpulse pressure (CMO:0000292)1972556907255691Human
597313394GWAS1409468_Hdiastolic blood pressure QTL GWAS1409468 (human)8e-44diastolic blood pressurediastolic blood pressure (CMO:0000005)1972579797257980Human
597348211GWAS1444285_Hsystolic blood pressure QTL GWAS1444285 (human)6e-11systolic blood pressuresystolic blood pressure (CMO:0000004)1972354397235440Human
597217649GWAS1313723_Hpulse pressure measurement QTL GWAS1313723 (human)2e-25pulse pressure measurementpulse pressure (CMO:0000292)1972579797257980Human
597615988GWAS1672848_Hsystolic blood pressure QTL GWAS1672848 (human)6e-16systolic blood pressuresystolic blood pressure (CMO:0000004)1972562347256235Human
597217650GWAS1313724_Hpulse pressure measurement QTL GWAS1313724 (human)7e-11pulse pressure measurementpulse pressure (CMO:0000292)1972583947258395Human
597281140GWAS1377214_Hsex hormone-binding globulin measurement QTL GWAS1377214 (human)5e-10sex hormone-binding globulin measurement1972200027220003Human
597159289GWAS1255363_Htriglyceride:HDL cholesterol ratio QTL GWAS1255363 (human)2e-13blood triglyceride amount (VT:0002644)1971955287195529Human
407050925GWAS699901_Hhypothyroidism QTL GWAS699901 (human)0.000005hypothyroidism1972238377223838Human
597348212GWAS1444286_Hsystolic blood pressure QTL GWAS1444286 (human)2e-70systolic blood pressuresystolic blood pressure (CMO:0000004)1972579797257980Human
597348213GWAS1444287_Hsystolic blood pressure QTL GWAS1444287 (human)5e-20systolic blood pressuresystolic blood pressure (CMO:0000004)1972583947258395Human
597028197GWAS1124271_Hblood urea nitrogen measurement QTL GWAS1124271 (human)3e-09blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)1972005477200548Human
597282144GWAS1378218_Htriglycerides in large VLDL measurement QTL GWAS1378218 (human)1e-09triglycerides in large VLDL measurementblood very low density lipoprotein triglyceride level (CMO:0002688)1972107997210800Human
597090664GWAS1186738_Htype 2 diabetes mellitus QTL GWAS1186738 (human)3e-14type 2 diabetes mellitus1972351357235136Human
597240991GWAS1337065_HBMI-adjusted waist-hip ratio QTL GWAS1337065 (human)9e-09body size trait (VT:0100005)1971835407183541Human
597025939GWAS1122013_Hhigh density lipoprotein cholesterol measurement QTL GWAS1122013 (human)0.0000007high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1972223667222367Human
597240990GWAS1337064_HBMI-adjusted waist-hip ratio QTL GWAS1337064 (human)1e-14body size trait (VT:0100005)1971255087125509Human
597218964GWAS1315038_Hinsulin measurement QTL GWAS1315038 (human)9e-08insulin measurementpancreatic islet insulin release measurement (CMO:0001216)1971255087125509Human
597156505GWAS1252579_Htriglyceride:HDL cholesterol ratio QTL GWAS1252579 (human)1e-10blood triglyceride amount (VT:0002644)1972931087293109Human
596953223GWAS1072742_Hsize QTL GWAS1072742 (human)1e-12size1971839157183916Human
596953729GWAS1073248_HRed cell distribution width QTL GWAS1073248 (human)1e-10Red cell distribution width1971825347182535Human
597123727GWAS1219801_Hclear cell renal carcinoma QTL GWAS1219801 (human)3e-10clear cell renal carcinoma1972011077201108Human
597025421GWAS1121495_Htriglyceride measurement QTL GWAS1121495 (human)0.000002triglyceride measurementblood triglyceride level (CMO:0000118)1972223667222367Human
597066380GWAS1162454_Htriglyceride measurement QTL GWAS1162454 (human)0.000001triglyceride measurementblood triglyceride level (CMO:0000118)1972244207224421Human
597097100GWAS1193174_Hsex hormone-binding globulin measurement QTL GWAS1193174 (human)7e-13sex hormone-binding globulin measurement1972366157236616Human
597154443GWAS1250517_Hphospholipids:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1250517 (human)6e-09phospholipids:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1971944247194426Human
597066378GWAS1162452_Htriglyceride measurement QTL GWAS1162452 (human)4e-08triglyceride measurementblood triglyceride level (CMO:0000118)1972238377223838Human
597348999GWAS1445073_Hurate measurement QTL GWAS1445073 (human)1e-31urate measurementblood uric acid level (CMO:0000501)1972113007211301Human
597594243GWAS1651103_Hhematocrit QTL GWAS1651103 (human)1e-15hematocrithematocrit (CMO:0000037)1972117177211718Human
597066379GWAS1162453_Htriglyceride measurement QTL GWAS1162453 (human)0.000005triglyceride measurementblood triglyceride level (CMO:0000118)1972244207224421Human
597065867GWAS1161941_Hdiastolic blood pressure QTL GWAS1161941 (human)0.0000006diastolic blood pressurediastolic blood pressure (CMO:0000005)1972527457252746Human
597066377GWAS1162451_Htriglyceride measurement QTL GWAS1162451 (human)0.0000004triglyceride measurementblood triglyceride level (CMO:0000118)1972238377223838Human
596966027GWAS1085546_Hdiastolic blood pressure QTL GWAS1085546 (human)8e-44diastolic blood pressure1972579797257980Human
597242041GWAS1338115_HBMI-adjusted waist-hip ratio QTL GWAS1338115 (human)8e-16body size trait (VT:0100005)1971821607182161Human
597242040GWAS1338114_HBMI-adjusted waist-hip ratio QTL GWAS1338114 (human)2e-08body size trait (VT:0100005)1971645897164590Human
597242043GWAS1338117_HBMI-adjusted waist-hip ratio QTL GWAS1338117 (human)8e-14body size trait (VT:0100005)1971939677193970Human
597159093GWAS1255167_Htriglyceride:HDL cholesterol ratio QTL GWAS1255167 (human)0.000003blood triglyceride amount (VT:0002644)1971955287195529Human
597590204GWAS1647064_HToxic Nodular Goiter QTL GWAS1647064 (human)7e-41Toxic Nodular Goiter1972354397235440Human
597242042GWAS1338116_HBMI-adjusted waist-hip ratio QTL GWAS1338116 (human)2e-14body size trait (VT:0100005)1971839157183916Human
597589690GWAS1646550_Hhypothyroidism QTL GWAS1646550 (human)7e-35hypothyroidism1972238377223838Human
407113569GWAS762545_Hwaist-hip ratio QTL GWAS762545 (human)3e-10waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)1971835407183541Human
597242044GWAS1338118_HBMI-adjusted waist-hip ratio QTL GWAS1338118 (human)4e-11body size trait (VT:0100005)1972107997210800Human
596979378GWAS1098897_Hbody height QTL GWAS1098897 (human)3e-08body height1971518247151825Human
407027557GWAS676533_Hurate measurement QTL GWAS676533 (human)0.0000001urate measurementblood uric acid level (CMO:0000501)1971997927199793Human
597255870GWAS1351944_Htriglyceride measurement QTL GWAS1351944 (human)3e-16triglyceride measurementblood triglyceride level (CMO:0000118)1972043837204384Human
597253297GWAS1349371_HBMI-adjusted waist circumference QTL GWAS1349371 (human)3e-08body size trait (VT:0100005)1972107997210800Human
597253296GWAS1349370_HBMI-adjusted waist circumference QTL GWAS1349370 (human)4e-11body size trait (VT:0100005)1971852957185296Human
597253299GWAS1349373_HBMI-adjusted waist circumference QTL GWAS1349373 (human)5e-09body size trait (VT:0100005)1972222237222224Human
597200563GWAS1296637_Hlean body mass QTL GWAS1296637 (human)2e-11body lean mass (VT:0010483)total body lean mass (CMO:0003950)1971934097193410Human
597253298GWAS1349372_HBMI-adjusted waist circumference QTL GWAS1349372 (human)3e-08body size trait (VT:0100005)1972204037220404Human
596979896GWAS1099415_Hthyroid stimulating hormone measurement QTL GWAS1099415 (human)3e-44thyroid stimulating hormone measurement1972244207224421Human
597350580GWAS1446654_Hurate measurement QTL GWAS1446654 (human)3e-31urate measurementblood uric acid level (CMO:0000501)1972113007211301Human
597233833GWAS1329907_Happendicular lean mass QTL GWAS1329907 (human)5e-16appendicular lean mass1971142027114203Human
406945649GWAS594625_Hchronotype measurement QTL GWAS594625 (human)0.000009sleep behavior trait (VT:0001501)1971677047167705Human
597019301GWAS1115375_Hsmoking status measurement, systolic blood pressure QTL GWAS1115375 (human)4e-21smoking status measurement, systolic blood pressuresystolic blood pressure (CMO:0000004)1972527457252746Human
597233834GWAS1329908_Happendicular lean mass QTL GWAS1329908 (human)4e-14appendicular lean mass1971848107184813Human
596968102GWAS1087621_Hsystolic blood pressure QTL GWAS1087621 (human)4e-14systolic blood pressure1972243397224340Human
597253292GWAS1349366_HBMI-adjusted waist circumference QTL GWAS1349366 (human)9e-12body size trait (VT:0100005)1971661277166128Human
597253295GWAS1349369_HBMI-adjusted waist circumference QTL GWAS1349369 (human)4e-09body size trait (VT:0100005)1971785167178517Human
597253294GWAS1349368_HBMI-adjusted waist circumference QTL GWAS1349368 (human)2e-08body size trait (VT:0100005)1971821607182161Human
597267107GWAS1363181_Htriglyceride measurement QTL GWAS1363181 (human)1e-44triglyceride measurementblood triglyceride level (CMO:0000118)1972226447222645Human
597106349GWAS1202423_Hreticulocyte count QTL GWAS1202423 (human)8e-12reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)1972239627223963Human
597163181GWAS1259255_Hhypothyroidism QTL GWAS1259255 (human)2e-08hypothyroidism1972244207224421Human
597587618GWAS1644478_HToxic Nodular Goiter QTL GWAS1644478 (human)1e-40Toxic Nodular Goiter1972354397235440Human
597317798GWAS1413872_Hsystolic blood pressure QTL GWAS1413872 (human)3e-55systolic blood pressuresystolic blood pressure (CMO:0000004)1972579797257980Human
597596835GWAS1653695_Hdiastolic blood pressure change measurement QTL GWAS1653695 (human)1e-36diastolic blood pressure change measurementchange in diastolic blood pressure (CMO:0001016)1972579797257980Human
597065897GWAS1161971_Hsystolic blood pressure QTL GWAS1161971 (human)3e-09systolic blood pressuresystolic blood pressure (CMO:0000004)1972556907255691Human
597273306GWAS1369380_Hsystolic blood pressure QTL GWAS1369380 (human)6e-11systolic blood pressuresystolic blood pressure (CMO:0000004)1972306647230665Human
597588698GWAS1645558_Hhematocrit QTL GWAS1645558 (human)7e-14hematocrithematocrit (CMO:0000037)1972117177211718Human
597587674GWAS1644534_Hnontoxic goiter QTL GWAS1644534 (human)2e-24nontoxic goiter1972354397235440Human
597579483GWAS1636343_Hhigh density lipoprotein cholesterol measurement QTL GWAS1636343 (human)7e-14high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1972420537242054Human
597095632GWAS1191706_Hreticulocyte measurement QTL GWAS1191706 (human)7e-13reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)1972239627223963Human
597145311GWAS1241385_Htriglyceride measurement QTL GWAS1241385 (human)1e-12triglyceride measurementblood triglyceride level (CMO:0000118)1972205857220586Human
597145310GWAS1241384_Htriglyceride measurement QTL GWAS1241384 (human)3e-10triglyceride measurementblood triglyceride level (CMO:0000118)1972074647207465Human
597028057GWAS1124131_Hwaist-hip ratio QTL GWAS1124131 (human)1e-09waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)1971999677199968Human
597035737GWAS1131811_Htriglyceride measurement QTL GWAS1131811 (human)2e-22triglyceride measurementblood triglyceride level (CMO:0000118)1972205857220586Human
597603018GWAS1659878_Hhypertension QTL GWAS1659878 (human)3e-26hypertension1972562347256235Human
597314767GWAS1410841_Huric acid measurement QTL GWAS1410841 (human)2e-26uric acid measurementblood uric acid level (CMO:0000501)1972113007211301Human
597189327GWAS1285401_Hsex hormone-binding globulin measurement QTL GWAS1285401 (human)1e-22sex hormone-binding globulin measurement1972205857220586Human
597578953GWAS1635813_Hhigh density lipoprotein cholesterol measurement QTL GWAS1635813 (human)2e-11high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1972492487249249Human
597585097GWAS1641957_Htype 2 diabetes mellitus QTL GWAS1641957 (human)5e-13type 2 diabetes mellitus1972935497293550Human
597206720GWAS1302794_HBeta blocking agent use measurement QTL GWAS1302794 (human)7e-12Beta blocking agent use measurement1972556907255691Human
597188802GWAS1284876_Hnon-alcoholic fatty liver disease QTL GWAS1284876 (human)5e-09non-alcoholic fatty liver disease1972186247218625Human
597075148GWAS1171222_Hsystolic blood pressure QTL GWAS1171222 (human)3e-09systolic blood pressuresystolic blood pressure (CMO:0000004)1972244207224421Human
597111500GWAS1207574_Hurate measurement QTL GWAS1207574 (human)6e-09urate measurementblood uric acid level (CMO:0000501)1972113007211301Human
597581506GWAS1638366_Hhypertension, Antihypertensive use measurement QTL GWAS1638366 (human)2e-18hypertension, Antihypertensive use measurement1972531737253174Human
597618883GWAS1675743_Htriglyceride measurement QTL GWAS1675743 (human)2e-12triglyceride measurementblood triglyceride level (CMO:0000118)1972207347220735Human
597065931GWAS1162005_Hsystolic blood pressure QTL GWAS1162005 (human)3e-26systolic blood pressuresystolic blood pressure (CMO:0000004)1972556907255691Human
597107913GWAS1203987_Htestosterone measurement QTL GWAS1203987 (human)1e-10testosterone measurementserum testosterone level (CMO:0000568)1972244207224421Human
406970654GWAS619630_Hdiastolic blood pressure QTL GWAS619630 (human)2e-22diastolic blood pressurediastolic blood pressure (CMO:0000005)1972527457252746Human
407070496GWAS719472_Halcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS719472 (human)0.000007alcohol drinking, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1972223667222367Human
596954353GWAS1073872_HRed cell distribution width QTL GWAS1073872 (human)3e-12Red cell distribution width1971821687182169Human
597578491GWAS1635351_Hhemoglobin measurement QTL GWAS1635351 (human)1e-13hemoglobin measurementhemoglobin measurement (CMO:0000508)1972117177211718Human
597063923GWAS1159997_Hperceived unattractiveness to mosquitos measurement QTL GWAS1159997 (human)0.000008perceived unattractiveness to mosquitos measurement1972175907217591Human
597607673GWAS1664533_Htriglyceride measurement QTL GWAS1664533 (human)2e-38triglyceride measurementblood triglyceride level (CMO:0000118)1972238377223838Human
597212927GWAS1309001_Hhigh density lipoprotein cholesterol measurement QTL GWAS1309001 (human)1e-13high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1972422507242251Human
407000875GWAS649851_Hsystolic blood pressure QTL GWAS649851 (human)1e-18systolic blood pressuresystolic blood pressure (CMO:0000004)1972593357259336Human
597307632GWAS1403706_HBMI-adjusted hip circumference QTL GWAS1403706 (human)6e-14BMI-adjusted hip circumferencehip circumference (CMO:0000014)1972200027220003Human
597245685GWAS1341759_Hsex hormone-binding globulin measurement QTL GWAS1341759 (human)1e-09sex hormone-binding globulin measurement1972043837204384Human
596957433GWAS1076952_Hthyroid stimulating hormone measurement QTL GWAS1076952 (human)8e-11thyroid stimulating hormone measurement1972075887207589Human
597162746GWAS1258820_HBMI-adjusted waist-hip ratio QTL GWAS1258820 (human)2e-10body size trait (VT:0100005)1972200027220003Human
597411573GWAS1507647_Hage at onset, Myopia QTL GWAS1507647 (human)9e-13age at onset, Myopia1971526927152693Human
597255927GWAS1352001_Hurate measurement QTL GWAS1352001 (human)8e-19urate measurementblood uric acid level (CMO:0000501)1972043837204384Human
597037816GWAS1133890_Hmean arterial pressure, alcohol drinking QTL GWAS1133890 (human)2e-11mean arterial pressure, alcohol drinkingmean arterial blood pressure (CMO:0000009)1972579797257980Human
597429484GWAS1525558_Hprotein measurement QTL GWAS1525558 (human)4e-12protein measurement1972632487263249Human
597307627GWAS1403701_HBMI-adjusted hip circumference QTL GWAS1403701 (human)3e-24BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971821607182161Human
597307625GWAS1403699_HBMI-adjusted hip circumference QTL GWAS1403699 (human)2e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971659957165996Human
597307630GWAS1403704_HBMI-adjusted hip circumference QTL GWAS1403704 (human)3e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)1972113007211301Human
597288173GWAS1384247_Hhypertension QTL GWAS1384247 (human)6e-19hypertension1972579797257980Human
597307631GWAS1403705_HBMI-adjusted hip circumference QTL GWAS1403705 (human)1e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)1972261337226134Human
597307628GWAS1403702_HBMI-adjusted hip circumference QTL GWAS1403702 (human)4e-20BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971837867183787Human
597279983GWAS1376057_Hsex hormone-binding globulin measurement QTL GWAS1376057 (human)9e-18sex hormone-binding globulin measurement1972238377223838Human
597590249GWAS1647109_Hnontoxic goiter QTL GWAS1647109 (human)3e-25nontoxic goiterpulse pressure (CMO:0000292)1972354397235440Human
406915896GWAS564872_Htriglyceride measurement QTL GWAS564872 (human)0.000002triglyceride measurementblood triglyceride level (CMO:0000118)1972244207224421Human
597594340GWAS1651200_Hhypertension, Antihypertensive use measurement QTL GWAS1651200 (human)4e-31hypertension, Antihypertensive use measurement1972579797257980Human
407002424GWAS651400_Hdiastolic blood pressure QTL GWAS651400 (human)3e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)1972593357259336Human
407383859GWAS1032835_Hobsolete_red blood cell distribution width QTL GWAS1032835 (human)3e-12obsolete_red blood cell distribution width1971821687182169Human
407002425GWAS651401_Hdiastolic blood pressure QTL GWAS651401 (human)9e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)1972593357259336Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
597607648GWAS1664508_Hsystolic blood pressure QTL GWAS1664508 (human)2e-20systolic blood pressuresystolic blood pressure (CMO:0000004)1972579797257980Human
597266460GWAS1362534_Hpulse pressure measurement QTL GWAS1362534 (human)4e-12pulse pressure measurementpulse pressure (CMO:0000292)1972243397224340Human
597618715GWAS1675575_Hessential hypertension QTL GWAS1675575 (human)9e-22essential hypertension1972562347256235Human
597265438GWAS1361512_HBMI-adjusted hip circumference QTL GWAS1361512 (human)2e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971462717146272Human
597306386GWAS1402460_HBMI-adjusted hip circumference QTL GWAS1402460 (human)5e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971999287199929Human
597306387GWAS1402461_HBMI-adjusted hip circumference QTL GWAS1402461 (human)2e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)1972076497207650Human
597189652GWAS1285726_Htestosterone measurement QTL GWAS1285726 (human)1e-10body size trait (VT:0100005)serum testosterone level (CMO:0000568)1972200027220003Human
597079557GWAS1175631_HRed cell distribution width QTL GWAS1175631 (human)1e-11Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)1971825347182535Human
597306382GWAS1402456_HBMI-adjusted hip circumference QTL GWAS1402456 (human)7e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971645517164552Human
597144066GWAS1240140_Hserum alanine aminotransferase measurement QTL GWAS1240140 (human)4e-11serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)1971459517145952Human
597306383GWAS1402457_HBMI-adjusted hip circumference QTL GWAS1402457 (human)4e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971721987172199Human
597620235GWAS1677095_Htriglyceride measurement QTL GWAS1677095 (human)9e-17triglyceride measurementblood triglyceride level (CMO:0000118)1972207347220735Human
407002074GWAS651050_Hsystolic blood pressure QTL GWAS651050 (human)0.0000002systolic blood pressuresystolic blood pressure (CMO:0000004)1972593357259336Human
597110285GWAS1206359_Hurate measurement QTL GWAS1206359 (human)1e-20urate measurementblood uric acid level (CMO:0000501)1972113007211301Human
407002073GWAS651049_Hsystolic blood pressure QTL GWAS651049 (human)6e-08systolic blood pressuresystolic blood pressure (CMO:0000004)1972593357259336Human
597585411GWAS1642271_Hhigh density lipoprotein cholesterol measurement QTL GWAS1642271 (human)1e-12high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1972492487249249Human
597058102GWAS1154176_Hhypothyroidism QTL GWAS1154176 (human)2e-09hypothyroidism1972407657240766Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
407043047GWAS692023_Hpolycystic ovary syndrome QTL GWAS692023 (human)1e-08polycystic ovary syndrome1971660987166099Human
597036595GWAS1132669_Hdiastolic blood pressure, alcohol drinking QTL GWAS1132669 (human)4e-29diastolic blood pressure, alcohol drinkingdiastolic blood pressure (CMO:0000005)1972579797257980Human
596963388GWAS1082907_Hresponse to warfarin QTL GWAS1082907 (human)0.000005response to warfarin1971660037166004Human
597049406GWAS1145480_Hhypertension QTL GWAS1145480 (human)5e-15hypertension1972531737253174Human
597314612GWAS1410686_Htriglyceride measurement QTL GWAS1410686 (human)3e-18triglyceride measurementblood triglyceride level (CMO:0000118)1972239507223951Human
597588012GWAS1644872_Hhypothyroidism QTL GWAS1644872 (human)1e-56hypothyroidism1972238377223838Human
597585965GWAS1642825_Hdiastolic blood pressure change measurement QTL GWAS1642825 (human)3e-22diastolic blood pressure change measurementchange in diastolic blood pressure (CMO:0001016)1972562347256235Human
597597738GWAS1654598_Hhemoglobin measurement QTL GWAS1654598 (human)3e-12hemoglobin measurementhemoglobin measurement (CMO:0000508)1972117177211718Human
597146145GWAS1242219_Hhigh density lipoprotein cholesterol measurement QTL GWAS1242219 (human)4e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1972226447222645Human
597582376GWAS1639236_Hsystolic blood pressure QTL GWAS1639236 (human)2e-30systolic blood pressuresystolic blood pressure (CMO:0000004)1972579797257980Human
597060654GWAS1156728_HBMI-adjusted waist-hip ratio QTL GWAS1156728 (human)2e-08body size trait (VT:0100005)1971878497187850Human
597591079GWAS1647939_Hessential hypertension QTL GWAS1647939 (human)6e-35essential hypertension1972579797257980Human
597060652GWAS1156726_HBMI-adjusted waist-hip ratio QTL GWAS1156726 (human)9e-10body size trait (VT:0100005)1971999677199968Human
597060653GWAS1156727_HBMI-adjusted waist-hip ratio QTL GWAS1156727 (human)9e-10body size trait (VT:0100005)1971666867166687Human
597606946GWAS1663806_Hsystolic blood pressure QTL GWAS1663806 (human)2e-27systolic blood pressuresystolic blood pressure (CMO:0000004)1972562347256235Human
597060651GWAS1156725_HBMI-adjusted waist-hip ratio QTL GWAS1156725 (human)6e-11body size trait (VT:0100005)1971255087125509Human
597029931GWAS1126005_HBMI-adjusted waist-hip ratio QTL GWAS1126005 (human)2e-12body size trait (VT:0100005)1971997927199793Human
597288024GWAS1384098_Hphospholipids in very large HDL measurement QTL GWAS1384098 (human)3e-10blood HDL phospholipid amount (VT:0010504)1972258647225865Human
597123670GWAS1219744_Hurate measurement QTL GWAS1219744 (human)2e-14urate measurementblood uric acid level (CMO:0000501)1972264397226440Human
597123669GWAS1219743_Hurate measurement QTL GWAS1219743 (human)1e-25urate measurementblood uric acid level (CMO:0000501)1971999677199968Human
597099092GWAS1195166_Hdiverticular disease QTL GWAS1195166 (human)0.000002diverticular disease1972113007211301Human
597110868GWAS1206942_Hurate measurement QTL GWAS1206942 (human)1e-18urate measurementblood uric acid level (CMO:0000501)1972113007211301Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
597061724GWAS1157798_Hsystolic blood pressure QTL GWAS1157798 (human)1e-58systolic blood pressuresystolic blood pressure (CMO:0000004)1972579797257980Human
597615701GWAS1672561_Hsystolic blood pressure QTL GWAS1672561 (human)1e-11systolic blood pressuresystolic blood pressure (CMO:0000004)1972562347256235Human
597282898GWAS1378972_Hdiastolic blood pressure QTL GWAS1378972 (human)1e-23diastolic blood pressurediastolic blood pressure (CMO:0000005)1972579797257980Human
597289556GWAS1385630_Hbody weight QTL GWAS1385630 (human)2e-10body mass (VT:0001259)body weight (CMO:0000012)1972105587210559Human
597206088GWAS1302162_HAgents acting on the renin-angiotensin system use measurement QTL GWAS1302162 (human)1e-22Agents acting on the renin-angiotensin system use measurement1972579797257980Human
597587018GWAS1643878_Htype 2 diabetes mellitus QTL GWAS1643878 (human)1e-10type 2 diabetes mellitus1971863227186323Human
597580362GWAS1637222_Hgout QTL GWAS1637222 (human)7e-14gout1972244207224421Human
597587019GWAS1643879_Htype 2 diabetes mellitus QTL GWAS1643879 (human)5e-14type 2 diabetes mellitus1972261797226180Human
597264448GWAS1360522_Hdiastolic blood pressure QTL GWAS1360522 (human)1e-40diastolic blood pressurediastolic blood pressure (CMO:0000005)1972579797257980Human
597590596GWAS1647456_Hhypothyroidism QTL GWAS1647456 (human)4e-36hypothyroidism1972244207224421Human
597305409GWAS1401483_Hpulse pressure measurement QTL GWAS1401483 (human)4e-20pulse pressure measurementpulse pressure (CMO:0000292)1972556907255691Human
597048907GWAS1144981_Hcardiovascular disease QTL GWAS1144981 (human)3e-43cardiovascular disease1972579797257980Human
597587521GWAS1644381_Hhypothyroidism QTL GWAS1644381 (human)5e-56hypothyroidism1972238377223838Human
597070454GWAS1166528_HBMI-adjusted hip circumference QTL GWAS1166528 (human)0.000003BMI-adjusted hip circumferencehip circumference (CMO:0000014)1971855807185581Human
597122161GWAS1218235_Hrenal carcinoma QTL GWAS1218235 (human)5e-09renal carcinoma1972011077201108Human
597281392GWAS1377466_Hsex hormone-binding globulin measurement QTL GWAS1377466 (human)1e-12sex hormone-binding globulin measurement1972244207224421Human
597590644GWAS1647504_Hhypertension QTL GWAS1647504 (human)1e-34hypertension1972579797257980Human
597619826GWAS1676686_Htriglyceride measurement QTL GWAS1676686 (human)1e-16triglyceride measurementblood triglyceride level (CMO:0000118)1972207347220735Human
597098619GWAS1194693_Hsex hormone-binding globulin measurement QTL GWAS1194693 (human)1e-09sex hormone-binding globulin measurement1972366157236616Human
406952369GWAS601345_Hsystolic blood pressure QTL GWAS601345 (human)1e-18systolic blood pressuresystolic blood pressure (CMO:0000004)1972527457252746Human
597595758GWAS1652618_Hdiastolic blood pressure QTL GWAS1652618 (human)1e-28diastolic blood pressurediastolic blood pressure (CMO:0000005)1972579797257980Human
597578339GWAS1635199_Hgout QTL GWAS1635199 (human)1e-13gout1972244207224421Human

Markers in Region
RH66229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,202,919 - 7,202,998UniSTSGRCh37
Build 36197,153,919 - 7,153,998RGDNCBI36
Celera197,140,290 - 7,140,369RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,938,115 - 6,938,194UniSTS
GeneMap99-GB4 RH Map1941.03UniSTS
RH80156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,167,064 - 7,167,280UniSTSGRCh37
Build 36197,118,064 - 7,118,280RGDNCBI36
Celera197,104,468 - 7,104,684RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,901,645 - 6,901,861UniSTS
GeneMap99-GB4 RH Map1941.45UniSTS
RH92589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,112,339 - 7,112,528UniSTSGRCh37
Build 36197,063,339 - 7,063,528RGDNCBI36
Celera197,049,757 - 7,049,946RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,846,097 - 6,846,286UniSTS
GeneMap99-GB4 RH Map1941.65UniSTS
RH93377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,116,192 - 7,116,327UniSTSGRCh37
Build 36197,067,192 - 7,067,327RGDNCBI36
Celera197,053,612 - 7,053,747RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,849,951 - 6,850,086UniSTS
GeneMap99-GB4 RH Map1941.65UniSTS
RH45939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,196,722 - 7,196,889UniSTSGRCh37
Build 36197,147,722 - 7,147,889RGDNCBI36
Celera197,134,088 - 7,134,255RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,931,962 - 6,932,129UniSTS
RH80628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,114,982 - 7,115,217UniSTSGRCh37
Build 36197,065,982 - 7,066,217RGDNCBI36
Celera197,052,401 - 7,052,636RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,848,740 - 6,848,975UniSTS
G59704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,163,053 - 7,163,159UniSTSGRCh37
Build 36197,114,053 - 7,114,159RGDNCBI36
Celera197,100,443 - 7,100,549RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,897,909 - 6,898,015UniSTS
TNG Radiation Hybrid Map191335.0UniSTS
GDB:177257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,152,778 - 7,152,917UniSTSGRCh37
Build 36197,103,778 - 7,103,917RGDNCBI36
Celera197,090,175 - 7,090,314RGD
Cytogenetic Map19p13.3-p13.2UniSTS
GDB:177803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,166,138 - 7,166,459UniSTSGRCh37
Build 36197,117,138 - 7,117,459RGDNCBI36
Celera197,103,542 - 7,103,863RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,900,719 - 6,901,040UniSTS
GDB:182561  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,184,616 - 7,184,753UniSTSGRCh37
Build 36197,135,616 - 7,135,753RGDNCBI36
Celera197,122,021 - 7,122,157RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,919,242 - 6,919,381UniSTS
GDB:511361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,293,759 - 7,293,961UniSTSGRCh37
Build 36197,244,759 - 7,244,961RGDNCBI36
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef197,028,070 - 7,028,272UniSTS
SHGC-173117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,157,688 - 7,157,979UniSTSGRCh37
Build 36197,108,688 - 7,108,979RGDNCBI36
Celera197,095,081 - 7,095,372RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,892,476 - 6,892,767UniSTS
TNG Radiation Hybrid Map191331.0UniSTS
PMC152545P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,294,480 - 7,294,778UniSTSGRCh37
Build 36197,245,480 - 7,245,778RGDNCBI36
Celera197,232,124 - 7,232,422RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef197,028,791 - 7,029,089UniSTS
STS-X02160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,116,827 - 7,117,071UniSTSGRCh37
Build 36197,067,827 - 7,068,071RGDNCBI36
Celera197,054,247 - 7,054,491RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,850,584 - 6,850,828UniSTS
GeneMap99-GB4 RH Map1941.55UniSTS
SHGC-32871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,163,044 - 7,163,193UniSTSGRCh37
Build 36197,114,044 - 7,114,193RGDNCBI36
Celera197,100,434 - 7,100,583RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,897,900 - 6,898,049UniSTS
TNG Radiation Hybrid Map191331.0UniSTS
GeneMap99-G3 RH Map19232.0UniSTS
G07087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,116,230 - 7,116,347UniSTSGRCh37
Build 36197,067,230 - 7,067,347RGDNCBI36
Celera197,053,650 - 7,053,767RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,849,989 - 6,850,106UniSTS
G10600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,158,031 - 7,158,189UniSTSGRCh37
Build 36197,109,031 - 7,109,189RGDNCBI36
Celera197,095,424 - 7,095,579RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,892,819 - 6,892,974UniSTS
INSR_4112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,116,596 - 7,117,263UniSTSGRCh37
Build 36197,067,596 - 7,068,263RGDNCBI36
Celera197,054,016 - 7,054,683RGD
HuRef196,850,355 - 6,851,020UniSTS
Insr  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,142,875 - 7,142,980UniSTSGRCh37
GRCh37197,117,102 - 7,117,420UniSTSGRCh37
Celera197,080,303 - 7,080,408UniSTS
Celera197,054,522 - 7,054,840UniSTS
HuRef196,850,859 - 6,851,177UniSTS
HuRef196,878,823 - 6,878,928UniSTS
GDB:511368  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19p13.3-p13.2UniSTS
GDB:177221  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19p13.3-p13.2UniSTS
Insr  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,142,875 - 7,142,980UniSTSGRCh37
GRCh37197,117,102 - 7,117,420UniSTSGRCh37
Celera197,080,303 - 7,080,408UniSTS
Celera197,054,522 - 7,054,840UniSTS
HuRef196,850,859 - 6,851,177UniSTS
HuRef196,878,823 - 6,878,928UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2245 4971 1726 2350 6 624 1923 465 2267 7286 6452 53 3733 1 852 1740 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001079817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC125387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU684722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ021481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ068251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ068252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ068253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ311687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ311688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ311689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ311690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ333190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ333191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ333192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ333193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ333194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ333195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ333196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF025510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF207604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF207605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF207606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF207607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF207608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF207609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF207610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF207611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF207612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU331144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY015976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J05043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC036589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC055416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC055417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC055418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC055419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC055420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC055421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC055422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC055423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC055424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC055425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC055426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC055496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC055497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC055498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC186459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC311878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC311879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC311880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC311881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M10051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M24555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M27196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M29929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M29930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M76592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S70454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000302850   ⟹   ENSP00000303830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,112,265 - 7,294,414 (-)Ensembl
Ensembl Acc Id: ENST00000341500   ⟹   ENSP00000342838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,112,255 - 7,293,931 (-)Ensembl
Ensembl Acc Id: ENST00000593970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,122,570 - 7,125,386 (-)Ensembl
Ensembl Acc Id: ENST00000597211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,141,510 - 7,143,040 (-)Ensembl
Ensembl Acc Id: ENST00000598216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,151,971 - 7,293,866 (-)Ensembl
Ensembl Acc Id: ENST00000600492   ⟹   ENSP00000473170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,159,423 - 7,167,978 (-)Ensembl
Ensembl Acc Id: ENST00000601099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,120,620 - 7,123,158 (-)Ensembl
RefSeq Acc Id: NM_000208   ⟹   NP_000199
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,112,265 - 7,294,414 (-)NCBI
GRCh37197,112,266 - 7,294,011 (-)ENTREZGENE
Build 36197,063,266 - 7,245,011 (-)NCBI Archive
HuRef196,846,024 - 7,028,322 (-)ENTREZGENE
CHM1_1197,111,894 - 7,294,726 (-)NCBI
T2T-CHM13v2.0197,103,362 - 7,286,608 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001079817   ⟹   NP_001073285
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,112,265 - 7,294,414 (-)NCBI
GRCh37197,112,266 - 7,294,011 (-)ENTREZGENE
Build 36197,063,266 - 7,245,011 (-)NCBI Archive
HuRef196,846,024 - 7,028,322 (-)ENTREZGENE
CHM1_1197,111,894 - 7,294,726 (-)NCBI
T2T-CHM13v2.0197,103,362 - 7,286,608 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527988   ⟹   XP_011526290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,112,265 - 7,294,414 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527989   ⟹   XP_011526291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,112,265 - 7,294,414 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054320898   ⟹   XP_054176873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0197,103,362 - 7,286,608 (-)NCBI
RefSeq Acc Id: XM_054320899   ⟹   XP_054176874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0197,103,362 - 7,286,608 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000199 (Get FASTA)   NCBI Sequence Viewer  
  NP_001073285 (Get FASTA)   NCBI Sequence Viewer  
  XP_011526290 (Get FASTA)   NCBI Sequence Viewer  
  XP_011526291 (Get FASTA)   NCBI Sequence Viewer  
  XP_054176873 (Get FASTA)   NCBI Sequence Viewer  
  XP_054176874 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA59174 (Get FASTA)   NCBI Sequence Viewer  
  AAA59175 (Get FASTA)   NCBI Sequence Viewer  
  AAA59176 (Get FASTA)   NCBI Sequence Viewer  
  AAA59177 (Get FASTA)   NCBI Sequence Viewer  
  AAA59178 (Get FASTA)   NCBI Sequence Viewer  
  AAA59190 (Get FASTA)   NCBI Sequence Viewer  
  AAA59452 (Get FASTA)   NCBI Sequence Viewer  
  AAA86791 (Get FASTA)   NCBI Sequence Viewer  
  AAB30713 (Get FASTA)   NCBI Sequence Viewer  
  AAB33426 (Get FASTA)   NCBI Sequence Viewer  
  AAC37604 (Get FASTA)   NCBI Sequence Viewer  
  AAH47591 (Get FASTA)   NCBI Sequence Viewer  
  AAI17173 (Get FASTA)   NCBI Sequence Viewer  
  AAY44085 (Get FASTA)   NCBI Sequence Viewer  
  AAY97908 (Get FASTA)   NCBI Sequence Viewer  
  AAY97909 (Get FASTA)   NCBI Sequence Viewer  
  AAY97910 (Get FASTA)   NCBI Sequence Viewer  
  ABC46547 (Get FASTA)   NCBI Sequence Viewer  
  ABC46548 (Get FASTA)   NCBI Sequence Viewer  
  ABC46549 (Get FASTA)   NCBI Sequence Viewer  
  ABC46550 (Get FASTA)   NCBI Sequence Viewer  
  ABC46551 (Get FASTA)   NCBI Sequence Viewer  
  ABC46552 (Get FASTA)   NCBI Sequence Viewer  
  ABC46553 (Get FASTA)   NCBI Sequence Viewer  
  ABC55359 (Get FASTA)   NCBI Sequence Viewer  
  ABC55360 (Get FASTA)   NCBI Sequence Viewer  
  ABC55361 (Get FASTA)   NCBI Sequence Viewer  
  ABC55362 (Get FASTA)   NCBI Sequence Viewer  
  ABL06978 (Get FASTA)   NCBI Sequence Viewer  
  ABP68900 (Get FASTA)   NCBI Sequence Viewer  
  ABP68901 (Get FASTA)   NCBI Sequence Viewer  
  ABP68902 (Get FASTA)   NCBI Sequence Viewer  
  ABP68903 (Get FASTA)   NCBI Sequence Viewer  
  ABP68904 (Get FASTA)   NCBI Sequence Viewer  
  ABP68905 (Get FASTA)   NCBI Sequence Viewer  
  ABP68906 (Get FASTA)   NCBI Sequence Viewer  
  ABP68907 (Get FASTA)   NCBI Sequence Viewer  
  ABP73389 (Get FASTA)   NCBI Sequence Viewer  
  ABY54905 (Get FASTA)   NCBI Sequence Viewer  
  BAD92098 (Get FASTA)   NCBI Sequence Viewer  
  BAG62079 (Get FASTA)   NCBI Sequence Viewer  
  CAA26096 (Get FASTA)   NCBI Sequence Viewer  
  EAW69042 (Get FASTA)   NCBI Sequence Viewer  
  EAW69043 (Get FASTA)   NCBI Sequence Viewer  
  EAW69044 (Get FASTA)   NCBI Sequence Viewer  
  EAW69045 (Get FASTA)   NCBI Sequence Viewer  
  EAW69046 (Get FASTA)   NCBI Sequence Viewer  
  EAW69047 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000303830
  ENSP00000303830.4
  ENSP00000342838
  ENSP00000342838.4
GenBank Protein P06213 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001073285   ⟸   NM_001079817
- Peptide Label: isoform Short preproprotein
- UniProtKB: P06213 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000199   ⟸   NM_000208
- Peptide Label: isoform Long preproprotein
- UniProtKB: Q9UCB8 (UniProtKB/Swiss-Prot),   Q9UCB7 (UniProtKB/Swiss-Prot),   Q59H98 (UniProtKB/Swiss-Prot),   Q17RW0 (UniProtKB/Swiss-Prot),   Q9UCB9 (UniProtKB/Swiss-Prot),   P06213 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011526291   ⟸   XM_011527989
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011526290   ⟸   XM_011527988
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000473170   ⟸   ENST00000600492
Ensembl Acc Id: ENSP00000303830   ⟸   ENST00000302850
Ensembl Acc Id: ENSP00000342838   ⟸   ENST00000341500
RefSeq Acc Id: XP_054176874   ⟸   XM_054320899
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054176873   ⟸   XM_054320898
- Peptide Label: isoform X1
Protein Domains
Fibronectin type-III   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P06213-F1-model_v2 AlphaFold P06213 1-1382 view protein structure

Promoters
RGD ID:6795674
Promoter ID:HG_KWN:28696
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000208,   NM_001079817,   UC002MGF.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36197,245,361 - 7,245,861 (-)MPROMDB
RGD ID:7238265
Promoter ID:EPDNEW_H24878
Type:initiation region
Name:INSR_1
Description:insulin receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24880  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,294,414 - 7,294,474EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6091 AgrOrtholog
COSMIC INSR COSMIC
Ensembl Genes ENSG00000171105 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000302850 ENTREZGENE
  ENST00000302850.10 UniProtKB/Swiss-Prot
  ENST00000341500 ENTREZGENE
  ENST00000341500.9 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
  3.80.20.20 UniProtKB/Swiss-Prot
  Hormone Receptor, Insulin-like Growth Factor Receptor 1, Chain A, domain 2 UniProtKB/Swiss-Prot
  Phosphorylase Kinase, domain 1 UniProtKB/Swiss-Prot
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000171105 GTEx
HGNC ID HGNC:6091 ENTREZGENE
Human Proteome Map INSR Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot
  FN3_sf UniProtKB/Swiss-Prot
  Furin-like_Cys-rich_dom UniProtKB/Swiss-Prot
  Furin_repeat UniProtKB/Swiss-Prot
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Insulin_TMD UniProtKB/Swiss-Prot
  Kinase-like_dom_sf UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  Rcpt_L-dom UniProtKB/Swiss-Prot
  Rcpt_L-dom_sf UniProtKB/Swiss-Prot
  RTK UniProtKB/Swiss-Prot
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  Tyr_kinase_AS UniProtKB/Swiss-Prot
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  Tyr_kinase_insulin-like_rcpt UniProtKB/Swiss-Prot
  Tyr_kinase_rcpt_2_CS UniProtKB/Swiss-Prot
KEGG Report hsa:3643 UniProtKB/Swiss-Prot
NCBI Gene 3643 ENTREZGENE
OMIM 147670 OMIM
PANTHER INSULIN RECEPTOR UniProtKB/Swiss-Prot
  TYROSINE-PROTEIN KINASE RECEPTOR UniProtKB/Swiss-Prot
Pfam fn3 UniProtKB/Swiss-Prot
  Furin-like UniProtKB/Swiss-Prot
  Insulin_TMD UniProtKB/Swiss-Prot
  Pkinase_Tyr UniProtKB/Swiss-Prot
  Recep_L_domain UniProtKB/Swiss-Prot
PharmGKB PA202 PharmGKB
PIRSF Insulin_receptor UniProtKB/Swiss-Prot
PRINTS TYRKINASE UniProtKB/Swiss-Prot
PROSITE FN3 UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot
  RECEPTOR_TYR_KIN_II UniProtKB/Swiss-Prot
SMART FN3 UniProtKB/Swiss-Prot
  SM00261 UniProtKB/Swiss-Prot
  TyrKc UniProtKB/Swiss-Prot
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot
  SSF49265 UniProtKB/Swiss-Prot
  SSF56112 UniProtKB/Swiss-Prot
  SSF57184 UniProtKB/Swiss-Prot
UniProt INSR_HUMAN UniProtKB/Swiss-Prot
  M0R3E6_HUMAN UniProtKB/TrEMBL
  P06213 ENTREZGENE
  Q17RW0 ENTREZGENE
  Q59H98 ENTREZGENE
  Q86WY9_HUMAN UniProtKB/TrEMBL
  Q9UCB7 ENTREZGENE
  Q9UCB8 ENTREZGENE
  Q9UCB9 ENTREZGENE
UniProt Secondary Q17RW0 UniProtKB/Swiss-Prot
  Q59H98 UniProtKB/Swiss-Prot
  Q9UCB7 UniProtKB/Swiss-Prot
  Q9UCB8 UniProtKB/Swiss-Prot
  Q9UCB9 UniProtKB/Swiss-Prot