CBL (Cbl proto-oncogene) - Rat Genome Database

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Gene: CBL (Cbl proto-oncogene) Homo sapiens
Analyze
Symbol: CBL
Name: Cbl proto-oncogene
RGD ID: 1345184
HGNC Page HGNC:1541
Description: Enables SH3 domain binding activity and ephrin receptor binding activity. Involved in several processes, including positive regulation of receptor-mediated endocytosis; regulation of signal transduction; and ubiquitin-dependent protein catabolic process. Located in several cellular components, including Golgi apparatus; cilium; and cytosol. Implicated in acute myeloid leukemia; congestive heart failure; juvenile myelomonocytic leukemia; lung non-small cell carcinoma; and myeloid neoplasm. Biomarker of colorectal cancer; congestive heart failure; hepatocellular carcinoma; multiple myeloma; and osteosarcoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C-CBL; Cas-Br-M (murine) ecotropic retroviral transforming sequence; casitas B-lineage lymphoma proto-oncogene; Cbl proto-oncogene, E3 ubiquitin protein ligase; CBL2; E3 ubiquitin-protein ligase CBL; FRA11B; fragile site, folic acid type, rare, fra(11)(q23.3); NSLL; oncogene CBL2; proto-oncogene c-Cbl; RING finger protein 55; RING-type E3 ubiquitin transferase CBL; RNF55; signal transduction protein CBL
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811119,206,339 - 119,308,149 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11119,206,298 - 119,313,926 (+)EnsemblGRCh38hg38GRCh38
GRCh3711119,077,049 - 119,178,859 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,582,200 - 118,684,069 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411118,582,199 - 118,684,068NCBI
Celera11116,236,024 - 116,339,059 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11115,017,373 - 115,119,562 (+)NCBIHuRef
CHM1_111118,963,252 - 119,065,411 (+)NCBICHM1_1
T2T-CHM13v2.011119,226,712 - 119,328,785 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute myeloid leukemia  (IAGP)
B-Cell Chronic Lymphocytic Leukemia  (IDA,IEP)
B-lymphoblastic leukemia/lymphoma with hyperdiploidy  (IAGP)
Carotid Artery Injuries  (ISO)
CD3epsilon deficiency  (IAGP)
Chromosome 11, Partial Trisomy 11q  (IAGP)
colorectal cancer  (IEP)
congenital diaphragmatic hernia  (ISO)
congenital disorder of glycosylation Ij  (IAGP)
congenital myasthenic syndrome 13  (IAGP)
congestive heart failure  (IAGP,IEP)
cryptorchidism  (EXP)
Developmental Disabilities  (EXP,IAGP)
Dilated Cardiomyopathy with Left Ventricular Noncompaction  (IAGP)
Dwarfism  (IAGP)
Experimental Arthritis  (ISO)
Experimental Leukemia  (ISO)
genetic disease  (IAGP)
Growth Disorders  (EXP)
hematologic cancer  (IAGP)
Hematologic Neoplasms  (IAGP)
hepatocellular carcinoma  (IEP)
hyperglycemia  (ISO)
immunodeficiency 17  (IAGP)
immunodeficiency 18  (IAGP)
immunodeficiency 19  (IAGP)
inflammatory bowel disease 28  (IAGP)
isolated microphthalmia 5  (IAGP)
juvenile myelomonocytic leukemia  (EXP,IAGP)
long QT syndrome 10  (IAGP)
lung non-small cell carcinoma  (IAGP)
Lymphatic Metastasis  (IEP)
lymphopenia  (ISO)
male infertility  (EXP)
malignant ovarian germ cell neoplasm  (IAGP)
microcephaly  (IAGP)
multiple myeloma  (IEP)
myeloid neoplasm  (IAGP,ISO)
Myocardial Reperfusion Injury  (ISO)
Neurodevelopmental Disorders  (IAGP)
Noonan Like Syndrome  (IAGP)
Noonan syndrome  (IAGP)
Noonan syndrome 1  (IAGP)
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia  (EXP,IAGP)
osteosarcoma  (IEP)
ovarian germ cell cancer  (IAGP)
Peripheral Nerve Injuries  (ISO)
RASopathy  (IAGP)
rhabdomyosarcoma  (IAGP)
schizophrenia  (IAGP)
Stroke  (IAGP)
transient cerebral ischemia  (ISO)
type 1 diabetes mellitus  (ISO)
vasculitis  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-methylcholine  (EXP)
2-naphthylamine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
amphetamine  (ISO)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
diclofenac  (EXP)
dicrotophos  (EXP)
dieldrin  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fipronil  (ISO)
flutamide  (ISO)
FR900359  (EXP)
geldanamycin  (EXP)
ivermectin  (EXP)
lead diacetate  (ISO)
lead(0)  (ISO)
mercury dichloride  (EXP,ISO)
methylmercury chloride  (EXP)
nicotine  (EXP)
nitrofen  (ISO)
ozone  (EXP)
p-menthan-3-ol  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
phenobarbital  (ISO)
phosphane  (ISO)
resveratrol  (EXP)
retinyl acetate  (ISO)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
torcetrapib  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axon  (IEA,ISO)
cell projection  (IEA)
cilium  (IDA,IEA)
cytoplasm  (IEA)
cytosol  (IDA,TAS)
flotillin complex  (IEA,ISS)
focal adhesion  (IEA)
Golgi apparatus  (IDA,IEA)
growth cone  (IEA,ISO)
membrane raft  (IBA)
perinuclear region of cytoplasm  (IEA,ISO)
plasma membrane  (IBA,IDA,IEA,TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal cramps  (IAGP)
Abdominal pain  (IAGP)
Abnormal bleeding  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal dermatoglyphics  (IAGP)
Abnormal EKG  (IAGP)
Abnormal hair quantity  (IAGP)
Abnormal mast cell morphology  (IAGP)
Abnormal platelet function  (IAGP)
Abnormal pulmonary valve morphology  (IAGP)
Abnormal skin morphology  (IAGP)
Abnormality of coagulation  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of the genital system  (IAGP)
Abnormality of the lymphatic system  (IAGP)
Abnormality of the spleen  (IAGP)
Anaphylactic shock  (IAGP)
Anemia  (IAGP)
Anorexia  (IAGP)
Anteverted nares  (IAGP)
Aortic valve stenosis  (IAGP)
Aplasia of the semicircular canal  (IAGP)
Aplasia/Hypoplasia of the abdominal wall musculature  (IAGP)
Arrhythmia  (IAGP)
Arthralgia  (IAGP)
Ascites  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Blue irides  (IAGP)
Bone pain  (IAGP)
Brachydactyly  (IAGP)
Broad forehead  (IAGP)
Bruising susceptibility  (IAGP)
Cafe-au-lait spot  (IAGP)
Chylothorax  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarctation of aorta  (IAGP)
Coarse hair  (IAGP)
Constitutional symptom  (IAGP)
Cryptorchidism  (IAGP)
Cubitus valgus  (IAGP)
Cystic hygroma  (IAGP)
Decreased liver function  (IAGP)
Deep philtrum  (IAGP)
Delayed menarche  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Diarrhea  (IAGP)
Dilatation of the renal pelvis  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dysarthria  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated total serum tryptase  (IAGP)
Enlarged thorax  (IAGP)
Epicanthus  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fine hair  (IAGP)
Finger joint hypermobility  (IAGP)
Flushing  (IAGP)
Frontal bossing  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Global developmental delay  (IAGP)
Hematological neoplasm  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hypersplenism  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypotension  (IAGP)
Hypotonia  (IAGP)
Increased proportion of CD25+ mast cells  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Joint hypermobility  (IAGP)
Juvenile myelomonocytic leukemia  (IAGP)
Left ventricular noncompaction cardiomyopathy  (IAGP)
Leukemia  (IAGP)
Leukocytosis  (IAGP)
Long philtrum  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Lymphadenopathy  (IAGP)
Lymphedema  (IAGP)
Macrotia  (IAGP)
Maculopapular exanthema  (IAGP)
Malabsorption  (IAGP)
Melanocytic nevus  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Midface retrusion  (IAGP)
Mitral regurgitation  (IAGP)
Muscle weakness  (IAGP)
Myeloproliferative disorder  (IAGP)
Neurodevelopmental delay  (IAGP)
Neutropenia  (IAGP)
Nystagmus  (IAGP)
Osteolysis  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Overfolded helix  (IAGP)
Pancytopenia  (IAGP)
Patent ductus arteriosus  (IAGP)
Pathologic fracture  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Polyhydramnios  (IAGP)
Poor suck  (IAGP)
Portal hypertension  (IAGP)
Posteriorly rotated ears  (IAGP)
Postnatal growth retardation  (IAGP)
Proptosis  (IAGP)
Pruritus  (IAGP)
Ptosis  (IAGP)
Pulmonary artery stenosis  (IAGP)
Radioulnar synostosis  (IAGP)
Retrognathia  (IAGP)
Rhabdomyosarcoma  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short attention span  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Sparse hair  (IAGP)
Specific learning disability  (IAGP)
Splenomegaly  (IAGP)
Strabismus  (IAGP)
Stroke  (IAGP)
Thick lower lip vermilion  (IAGP)
Thick vermilion border  (IAGP)
Thickened helices  (IAGP)
Thickened nuchal skin fold  (IAGP)
Thrombocytopenia  (IAGP)
Triangular face  (IAGP)
Typified by somatic mosaicism  (IAGP)
Urticaria  (IAGP)
Webbed neck  (IAGP)
Weight loss  (IAGP)
Wide intermamillary distance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Intraarticular interferon-beta gene therapy ameliorates adjuvant arthritis in rats. Adriaansen J, etal., Hum Gene Ther. 2006 Oct;17(10):985-96.
2. CBL mutations in myeloproliferative neoplasms are also found in the gene's proline-rich domain and in patients with the V617FJAK2. Aranaz P, etal., Haematologica. 2012 Aug;97(8):1234-41. doi: 10.3324/haematol.2011.052605. Epub 2012 Feb 7.
3. Loss of c-Cbl expression correlates with de-differentiation status and lymphatic metastasis in gastric cancer. Chen C, etal., Indian J Pathol Microbiol. 2019 Oct-Dec;62(4):549-555. doi: 10.4103/IJPM.IJPM_824_18.
4. EGF-ERBB signalling: towards the systems level. Citri A and Yarden Y, Nat Rev Mol Cell Biol. 2006 Jul;7(7):505-16.
5. [Expression down-regulation of c-Cbl and Cbl-b genes in peripheral blood mononuclear cells from multiple myeloma patients]. Fang S, etal., Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2013 Aug;29(8):842-5.
6. Decreased pulmonary c-Cbl expression and tyrosine phosphorylation in the nitrofen-induced rat model of congenital diaphragmatic hernia. Friedmacher F, etal., Pediatr Surg Int. 2013 Jan;29(1):19-24. doi: 10.1007/s00383-012-3191-6.
7. The Met tyrosine kinase receptor in development and cancer. Gentile A, etal., Cancer Metastasis Rev. 2008 Mar;27(1):85-94.
8. Evidence of a functional role for mast cells in the development of type 1 diabetes mellitus in the BioBreeding rat. Geoffrey R, etal., J Immunol. 2006 Nov 15;177(10):7275-86.
9. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
10. Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Grand FH, etal., Blood. 2009 Jun 11;113(24):6182-92. doi: 10.1182/blood-2008-12-194548. Epub 2009 Apr 22.
11. Increased expression of the Cbl family of E3 ubiquitin ligases decreases Interleukin-2 production in a rat model of peripheral neuropathy. Jeong JS, etal., BMC Anesthesiol. 2018 Jul 18;18(1):87. doi: 10.1186/s12871-018-0555-z.
12. A high occurrence of acquisition and/or expansion of C-CBL mutant clones in the progression of high-risk myelodysplastic syndrome to acute myeloid leukemia. Kao HW, etal., Neoplasia. 2011 Nov;13(11):1035-42.
13. Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality. Kiefer KC, etal., ESC Heart Fail. 2021 Jun;8(3):1873-1884. doi: 10.1002/ehf2.13297. Epub 2021 Mar 28.
14. c-Cbl Expression Correlates with Human Colorectal Cancer Survival and Its Wnt/β-Catenin Suppressor Function Is Regulated by Tyr371 Phosphorylation. Kumaradevan S, etal., Am J Pathol. 2018 Aug;188(8):1921-1933. doi: 10.1016/j.ajpath.2018.05.007. Epub 2018 Jul 17.
15. An E3 ubiquitin ligase: c-Cbl: a new therapeutic target of lung cancer. Lo FY, etal., Cancer. 2011 Dec 1;117(23):5344-50. doi: 10.1002/cncr.26153. Epub 2011 May 23.
16. Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. Loh ML, etal., Blood. 2009 Aug 27;114(9):1859-63. doi: 10.1182/blood-2009-01-198416. Epub 2009 Jul 1.
17. Evidence for a role of the ubiquitin-proteasome pathway in pancreatic islets. López-Avalos MD, etal., Diabetes. 2006 May;55(5):1223-31.
18. Is the c-Cbl proto-oncogene involved in chronic lymphocytic leukemia? Mankai A, etal., Ann N Y Acad Sci. 2007 Jun;1107:193-205.
19. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
20. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
21. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
22. c-Cbl inhibition improves cardiac function and survival in response to myocardial ischemia. Rafiq K, etal., Circulation. 2014 May 20;129(20):2031-43. doi: 10.1161/CIRCULATIONAHA.113.007004. Epub 2014 Feb 28.
23. c-Cbl deficiency leads to diminished lymphocyte development and functions in an age-dependent manner. Rathinam C and Flavell RA, Proc Natl Acad Sci U S A. 2010 May 4;107(18):8316-21. doi: 10.1073/pnas.0914496107. Epub 2010 Apr 19.
24. Myeloid leukemia development in c-Cbl RING finger mutant mice is dependent on FLT3 signaling. Rathinam C, etal., Cancer Cell. 2010 Oct 19;18(4):341-52. doi: 10.1016/j.ccr.2010.09.008.
25. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
26. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
27. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
28. Rho GTPases in insulin-stimulated glucose uptake. Satoh T Small GTPases. 2014;5:e28102. doi: 10.4161/sgtp.28102. Epub 2014 Mar 10.
29. Abrogating Cbl-b in effector CD8(+) T cells improves the efficacy of adoptive therapy of leukemia in mice. Stromnes IM, etal., J Clin Invest. 2010 Oct;120(10):3722-34. doi: 10.1172/JCI41991. Epub 2010 Sep 20.
30. Targeting the E3 ubiquitin casitas B-lineage lymphoma decreases osteosarcoma cell growth and survival and reduces tumorigenesis. Sévère N, etal., J Bone Miner Res. 2012 Oct;27(10):2108-17. doi: 10.1002/jbmr.1667.
31. CBL is frequently altered in lung cancers: its relationship to mutations in MET and EGFR tyrosine kinases. Tan YH, etal., PLoS One. 2010 Jan 29;5(1):e8972. doi: 10.1371/journal.pone.0008972.
32. Suppression of c-Cbl tyrosine phosphorylation inhibits neointimal formation in balloon-injured rat arteries. Tang Z, etal., Circulation. 2008 Aug 12;118(7):764-72. doi: 10.1161/CIRCULATIONAHA.107.761932. Epub 2008 Jul 28.
33. Dual inhibitory roles of geldanamycin on the c-Jun NH2-terminal kinase 3 signal pathway through suppressing the expression of mixed-lineage kinase 3 and attenuating the activation of apoptosis signal-regulating kinase 1 via facilitating the activation of Akt in ischemic brain injury. Wen XR, etal., Neuroscience. 2008 Oct 15;156(3):483-97. Epub 2008 Aug 12.
34. Peritumoral Cbl is a strong independent prognostic marker after curative resection of hepatocellular carcinoma. Zhang JB, etal., Oncotarget. 2015 Nov 24;6(37):40223-34. doi: 10.18632/oncotarget.5540.
Additional References at PubMed
PMID:82   PMID:119942   PMID:1565471   PMID:2013228   PMID:2030914   PMID:5668240   PMID:7517397   PMID:7537740   PMID:7544353   PMID:7545163   PMID:7592693   PMID:7603564  
PMID:7629144   PMID:7629518   PMID:7642581   PMID:7657591   PMID:7721825   PMID:7782294   PMID:7791764   PMID:7881408   PMID:8063801   PMID:8083187   PMID:8524328   PMID:8612729  
PMID:8621483   PMID:8621719   PMID:8626404   PMID:8626543   PMID:8635998   PMID:8641358   PMID:8647120   PMID:8649804   PMID:8662998   PMID:8663231   PMID:8665853   PMID:8683103  
PMID:8695807   PMID:8695851   PMID:8702998   PMID:8780698   PMID:8798643   PMID:8810341   PMID:8824292   PMID:8896416   PMID:8900205   PMID:8920860   PMID:8941725   PMID:8943292  
PMID:8950973   PMID:8978305   PMID:8995243   PMID:8995358   PMID:8995445   PMID:9045636   PMID:9092538   PMID:9092574   PMID:9108392   PMID:9119889   PMID:9121472   PMID:9129019  
PMID:9130710   PMID:9160881   PMID:9162067   PMID:9174058   PMID:9178769   PMID:9178909   PMID:9195915   PMID:9200440   PMID:9223670   PMID:9233773   PMID:9234717   PMID:9242692  
PMID:9259313   PMID:9311917   PMID:9344843   PMID:9367879   PMID:9407100   PMID:9408950   PMID:9414268   PMID:9416834   PMID:9434624   PMID:9447983   PMID:9461587   PMID:9489702  
PMID:9535867   PMID:9541596   PMID:9590251   PMID:9603468   PMID:9617486   PMID:9622055   PMID:9632690   PMID:9660791   PMID:9675877   PMID:9712732   PMID:9716598   PMID:9756944  
PMID:9820532   PMID:9846481   PMID:9851874   PMID:9857068   PMID:9872323   PMID:9890943   PMID:9890970   PMID:9918857   PMID:9988730   PMID:9988765   PMID:9989826   PMID:10025673  
PMID:10068674   PMID:10074432   PMID:10078535   PMID:10086340   PMID:10092522   PMID:10204582   PMID:10347229   PMID:10358153   PMID:10372803   PMID:10374881   PMID:10427990   PMID:10428778  
PMID:10449770   PMID:10477741   PMID:10514377   PMID:10521482   PMID:10531381   PMID:10540342   PMID:10567358   PMID:10570266   PMID:10570290   PMID:10608804   PMID:10617633   PMID:10620516  
PMID:10629042   PMID:10635327   PMID:10648820   PMID:10657627   PMID:10679202   PMID:10684856   PMID:10779765   PMID:10799548   PMID:10826882   PMID:10829062   PMID:10854852   PMID:10907644  
PMID:10918571   PMID:10962563   PMID:10966114   PMID:10967110   PMID:11001060   PMID:11024037   PMID:11030146   PMID:11032556   PMID:11042121   PMID:11053437   PMID:11067845   PMID:11071869  
PMID:11087752   PMID:11133830   PMID:11149930   PMID:11152963   PMID:11157475   PMID:11239464   PMID:11262396   PMID:11263968   PMID:11278816   PMID:11313921   PMID:11331248   PMID:11353765  
PMID:11370743   PMID:11399323   PMID:11406619   PMID:11408594   PMID:11418612   PMID:11443118   PMID:11494134   PMID:11553620   PMID:11687594   PMID:11696592   PMID:11697890   PMID:11713248  
PMID:11741956   PMID:11742985   PMID:11777909   PMID:11788601   PMID:11792427   PMID:11823423   PMID:11826757   PMID:11847211   PMID:11850825   PMID:11891219   PMID:11894095   PMID:11894096  
PMID:11896602   PMID:11904433   PMID:11944898   PMID:11964172   PMID:11983899   PMID:11994282   PMID:11997436   PMID:11997497   PMID:12024036   PMID:12061819   PMID:12135478   PMID:12147253  
PMID:12149655   PMID:12176909   PMID:12177062   PMID:12193575   PMID:12218189   PMID:12226085   PMID:12231245   PMID:12234920   PMID:12244174   PMID:12393469   PMID:12435267   PMID:12475393  
PMID:12477932   PMID:12486104   PMID:12496371   PMID:12496419   PMID:12504111   PMID:12522270   PMID:12527895   PMID:12559036   PMID:12574167   PMID:12593795   PMID:12593796   PMID:12604776  
PMID:12618476   PMID:12637493   PMID:12649282   PMID:12672817   PMID:12696071   PMID:12727845   PMID:12734385   PMID:12771190   PMID:12802274   PMID:12803489   PMID:12815057   PMID:12839496  
PMID:12874286   PMID:12881521   PMID:12935897   PMID:12941616   PMID:14505571   PMID:14530346   PMID:14596919   PMID:14604282   PMID:14627991   PMID:14661060   PMID:14702039   PMID:14725908  
PMID:14738146   PMID:15001553   PMID:15031295   PMID:15062086   PMID:15090612   PMID:15094368   PMID:15107835   PMID:15117950   PMID:15123609   PMID:15128873   PMID:15135048   PMID:15159412  
PMID:15190072   PMID:15208330   PMID:15210722   PMID:15273720   PMID:15282549   PMID:15315962   PMID:15324660   PMID:15337528   PMID:15358160   PMID:15383614   PMID:15456872   PMID:15465819  
PMID:15475003   PMID:15536084   PMID:15556646   PMID:15577829   PMID:15581361   PMID:15592455   PMID:15635092   PMID:15657067   PMID:15668240   PMID:15677445   PMID:15707590   PMID:15708858  
PMID:15728256   PMID:15735736   PMID:15736970   PMID:15737992   PMID:15782196   PMID:15824310   PMID:15837792   PMID:15872089   PMID:15878338   PMID:15892963   PMID:15951569   PMID:15958209  
PMID:15962011   PMID:16094384   PMID:16105874   PMID:16107303   PMID:16135792   PMID:16219545   PMID:16228008   PMID:16246327   PMID:16289966   PMID:16327786   PMID:16356860   PMID:16397241  
PMID:16407834   PMID:16429130   PMID:16467851   PMID:16479008   PMID:16503409   PMID:16600665   PMID:16623714   PMID:16636290   PMID:16729043   PMID:16735510   PMID:16740632   PMID:16751776  
PMID:16780420   PMID:16849543   PMID:16893902   PMID:16906159   PMID:16914641   PMID:16923119   PMID:16938345   PMID:16955467   PMID:16964243   PMID:16969069   PMID:16982329   PMID:17003487  
PMID:17020880   PMID:17063465   PMID:17072306   PMID:17082185   PMID:17094785   PMID:17094949   PMID:17141222   PMID:17182860   PMID:17188587   PMID:17237826   PMID:17242169   PMID:17255109  
PMID:17255943   PMID:17306257   PMID:17330819   PMID:17353186   PMID:17372230   PMID:17395426   PMID:17446348   PMID:17475912   PMID:17486068   PMID:17533376   PMID:17545148   PMID:17548467  
PMID:17620296   PMID:17620338   PMID:17635922   PMID:17675467   PMID:17675501   PMID:17679095   PMID:17702744   PMID:17709377   PMID:17880946   PMID:17944804   PMID:17971399   PMID:17974561  
PMID:17995934   PMID:18029348   PMID:18034775   PMID:18045238   PMID:18048363   PMID:18062779   PMID:18070883   PMID:18193084   PMID:18235045   PMID:18255265   PMID:18271526   PMID:18273061  
PMID:18316398   PMID:18319245   PMID:18374639   PMID:18505781   PMID:18508924   PMID:18519587   PMID:18539136   PMID:18596201   PMID:18632619   PMID:18654987   PMID:18660489   PMID:18792408  
PMID:18835194   PMID:18974118   PMID:18996392   PMID:19002168   PMID:19074904   PMID:19081591   PMID:19144635   PMID:19155296   PMID:19167335   PMID:19190244   PMID:19201892   PMID:19225046  
PMID:19236749   PMID:19258424   PMID:19268472   PMID:19276253   PMID:19341794   PMID:19380743   PMID:19401194   PMID:19417776   PMID:19433454   PMID:19450681   PMID:19457607   PMID:19531213  
PMID:19531499   PMID:19546888   PMID:19578043   PMID:19620960   PMID:19635790   PMID:19689429   PMID:19713535   PMID:19823681   PMID:19836242   PMID:19861161   PMID:19880507   PMID:19892728  
PMID:19901108   PMID:19915061   PMID:19932172   PMID:19947936   PMID:19966856   PMID:20008299   PMID:20011623   PMID:20029031   PMID:20038312   PMID:20038681   PMID:20086179   PMID:20100865  
PMID:20124286   PMID:20130058   PMID:20189481   PMID:20195608   PMID:20237427   PMID:20308550   PMID:20357823   PMID:20379614   PMID:20416077   PMID:20439986   PMID:20461437   PMID:20479273  
PMID:20525683   PMID:20543203   PMID:20562913   PMID:20595524   PMID:20618440   PMID:20619386   PMID:20622007   PMID:20622121   PMID:20671051   PMID:20675402   PMID:20678218   PMID:20694012  
PMID:20696396   PMID:20711168   PMID:20717917   PMID:20877636   PMID:20880116   PMID:20936779   PMID:20940296   PMID:21048031   PMID:21098288   PMID:21118980   PMID:21163258   PMID:21175263  
PMID:21203488   PMID:21222362   PMID:21242968   PMID:21346257   PMID:21372129   PMID:21394196   PMID:21422499   PMID:21436637   PMID:21464131   PMID:21494262   PMID:21570973   PMID:21596750  
PMID:21645455   PMID:21706016   PMID:21712076   PMID:21740303   PMID:21768087   PMID:21772844   PMID:21830225   PMID:21873635   PMID:21904853   PMID:21949687   PMID:21967979   PMID:21988239  
PMID:21995445   PMID:22072526   PMID:22138511   PMID:22139419   PMID:22158968   PMID:22203672   PMID:22246246   PMID:22262777   PMID:22262855   PMID:22266821   PMID:22301280   PMID:22310290  
PMID:22394513   PMID:22467879   PMID:22493164   PMID:22509030   PMID:22558309   PMID:22588125   PMID:22591401   PMID:22591685   PMID:22623428   PMID:22706086   PMID:22733026   PMID:22833562  
PMID:22834886   PMID:22888118   PMID:22905207   PMID:22929312   PMID:22974441   PMID:22976291   PMID:23010802   PMID:23025505   PMID:23105109   PMID:23118026   PMID:23127761   PMID:23153581  
PMID:23158001   PMID:23175185   PMID:23279575   PMID:23290524   PMID:23306613   PMID:23352614   PMID:23376399   PMID:23418353   PMID:23434382   PMID:23457600   PMID:23533197   PMID:23586039  
PMID:23621189   PMID:23665906   PMID:23684068   PMID:23696637   PMID:23744067   PMID:23770238   PMID:23774213   PMID:23783394   PMID:23799367   PMID:23823657   PMID:23851457   PMID:23874206  
PMID:23897813   PMID:24113870   PMID:24167568   PMID:24255178   PMID:24287595   PMID:24445374   PMID:24458550   PMID:24458840   PMID:24466333   PMID:24469048   PMID:24525700   PMID:24714105  
PMID:24797263   PMID:24845182   PMID:24846123   PMID:24886428   PMID:25005938   PMID:25036637   PMID:25074934   PMID:25084697   PMID:25140053   PMID:25140833   PMID:25178484   PMID:25241761  
PMID:25283271   PMID:25285640   PMID:25348515   PMID:25358541   PMID:25387128   PMID:25450678   PMID:25468996   PMID:25472714   PMID:25521828   PMID:25737303   PMID:25744063   PMID:25754235  
PMID:25784557   PMID:25814554   PMID:25872741   PMID:25921289   PMID:25939664   PMID:25952305   PMID:25965880   PMID:26052821   PMID:26055326   PMID:26142735   PMID:26177020   PMID:26186194  
PMID:26353930   PMID:26449661   PMID:26496610   PMID:26548852   PMID:26628266   PMID:26638075   PMID:26673895   PMID:26716506   PMID:26911351   PMID:26964637   PMID:26972000   PMID:27048651  
PMID:27050377   PMID:27059931   PMID:27244893   PMID:27261451   PMID:27277384   PMID:27472394   PMID:27503123   PMID:27609087   PMID:27614019   PMID:27629044   PMID:27661103   PMID:27764233  
PMID:27805921   PMID:27842510   PMID:27903975   PMID:28082680   PMID:28198003   PMID:28287082   PMID:28319085   PMID:28319114   PMID:28343148   PMID:28381567   PMID:28415719   PMID:28514442  
PMID:28541302   PMID:28676638   PMID:28724758   PMID:28791635   PMID:28794017   PMID:28827787   PMID:28835699   PMID:28972304   PMID:29053960   PMID:29117863   PMID:29180619   PMID:29237719  
PMID:29326975   PMID:29364514   PMID:29395067   PMID:29507755   PMID:29589748   PMID:29600428   PMID:29629558   PMID:29643511   PMID:29665313   PMID:29720121   PMID:29729186   PMID:29891719  
PMID:29899407   PMID:30021884   PMID:30024968   PMID:30057274   PMID:30118682   PMID:30544639   PMID:31120930   PMID:31123462   PMID:31182136   PMID:31182584   PMID:31315051   PMID:31452512  
PMID:31470122   PMID:31659016   PMID:31722512   PMID:31805275   PMID:31959764   PMID:31980649   PMID:32062451   PMID:32114396   PMID:32376886   PMID:32377695   PMID:32707033   PMID:32707731  
PMID:32714745   PMID:32737118   PMID:32814053   PMID:32904620   PMID:33187986   PMID:33306199   PMID:33323455   PMID:33391517   PMID:33512474   PMID:33550024   PMID:33617900   PMID:33620036  
PMID:33627783   PMID:33742100   PMID:33762435   PMID:33767425   PMID:33769390   PMID:33811466   PMID:33864160   PMID:33961781   PMID:33962939   PMID:34079125   PMID:34159380   PMID:34609770  
PMID:34709727   PMID:34761192   PMID:34775495   PMID:34817293   PMID:34831026   PMID:35192416   PMID:35256949   PMID:35271311   PMID:35309168   PMID:35384245   PMID:35509820   PMID:35563538  
PMID:35614042   PMID:35671810   PMID:35831314   PMID:35931247   PMID:36114006   PMID:36215168   PMID:36470425   PMID:36504051   PMID:36543142   PMID:36720192   PMID:36736316   PMID:36786373  
PMID:36931259   PMID:37083525   PMID:37499664   PMID:37827155   PMID:37903221   PMID:38280479   PMID:38407942  


Genomics

Comparative Map Data
CBL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811119,206,339 - 119,308,149 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11119,206,298 - 119,313,926 (+)EnsemblGRCh38hg38GRCh38
GRCh3711119,077,049 - 119,178,859 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,582,200 - 118,684,069 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411118,582,199 - 118,684,068NCBI
Celera11116,236,024 - 116,339,059 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11115,017,373 - 115,119,562 (+)NCBIHuRef
CHM1_111118,963,252 - 119,065,411 (+)NCBICHM1_1
T2T-CHM13v2.011119,226,712 - 119,328,785 (+)NCBIT2T-CHM13v2.0
Cbl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39944,054,273 - 44,145,556 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl944,054,273 - 44,145,346 (-)EnsemblGRCm39 Ensembl
GRCm38944,142,976 - 44,234,259 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl944,142,976 - 44,234,049 (-)EnsemblGRCm38mm10GRCm38
MGSCv37943,957,345 - 44,042,129 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36943,900,257 - 43,985,041 (-)NCBIMGSCv36mm8
Celera941,406,821 - 41,486,735 (-)NCBICelera
Cytogenetic Map9A5.1- A5.2NCBI
cM Map924.72NCBI
Cbl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8853,384,656 - 53,468,067 (-)NCBIGRCr8
mRatBN7.2844,487,824 - 44,571,620 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl844,489,410 - 44,571,176 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0848,481,256 - 48,564,775 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl848,489,036 - 48,564,722 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0847,105,710 - 47,183,347 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4847,135,357 - 47,211,889 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera844,074,668 - 44,158,034 (-)NCBICelera
Cytogenetic Map8q22NCBI
Cbl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541220,307,011 - 20,388,539 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541220,307,011 - 20,388,539 (+)NCBIChiLan1.0ChiLan1.0
CBL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29119,911,371 - 120,015,890 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111121,015,030 - 121,119,390 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011114,044,996 - 114,149,204 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111117,973,187 - 118,076,459 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11117,973,187 - 118,074,671 (+)Ensemblpanpan1.1panPan2
CBL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1514,600,409 - 14,676,974 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl514,607,013 - 14,676,956 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha514,653,516 - 14,730,936 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0514,543,644 - 14,621,193 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl514,549,582 - 14,620,322 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1514,681,808 - 14,759,290 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0514,585,944 - 14,663,491 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0514,626,100 - 14,703,693 (-)NCBIUU_Cfam_GSD_1.0
Cbl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947101,214,875 - 101,314,342 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365424,136,511 - 4,228,288 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365424,136,389 - 4,235,746 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CBL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl946,416,938 - 46,512,834 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1946,416,937 - 46,512,855 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2951,452,262 - 51,549,181 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CBL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11110,581,049 - 110,679,284 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1110,581,143 - 110,674,481 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604315,352,300 - 15,453,239 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cbl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478414,577,515 - 14,667,575 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478414,577,582 - 14,671,816 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CBL
1401 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005188.4(CBL):c.493C>G (p.Leu165Val) single nucleotide variant Cardiovascular phenotype [RCV003362847]|RASopathy [RCV000532294] Chr11:119271784 [GRCh38]
Chr11:119142494 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2666A>G (p.Lys889Arg) single nucleotide variant Cardiovascular phenotype [RCV002431721]|RASopathy [RCV000554761]|not provided [RCV003144380]|not specified [RCV001821655] Chr11:119299726 [GRCh38]
Chr11:119170436 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002483510]|RASopathy [RCV000542936]|not specified [RCV001532911] Chr11:119278705 [GRCh38]
Chr11:119149415 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.434C>G (p.Ser145Cys) single nucleotide variant Juvenile myelomonocytic leukemia [RCV003460334] Chr11:119232686 [GRCh38]
Chr11:119103396 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.6C>G (p.Ala2=) single nucleotide variant Cardiovascular phenotype [RCV002377191]|Juvenile myelomonocytic leukemia [RCV003316733]|Noonan syndrome and Noonan-related syndrome [RCV001813507]|RASopathy [RCV000547291] Chr11:119206423 [GRCh38]
Chr11:119077133 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1139T>C (p.Leu380Pro) single nucleotide variant CBL-related disorder [RCV001027866]|RASopathy [RCV000525475] Chr11:119278209 [GRCh38]
Chr11:119148919 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_005188.4(CBL):c.1033C>G (p.Gln345Glu) single nucleotide variant Cardiovascular phenotype [RCV002395490]|RASopathy [RCV000551449] Chr11:119277782 [GRCh38]
Chr11:119148492 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) microsatellite CBL-related condition [RCV003924883]|Cardiovascular phenotype [RCV002408491]|Juvenile myelomonocytic leukemia [RCV002490443]|Noonan syndrome and Noonan-related syndrome [RCV001813226]|Noonan-like syndrome [RCV000278774]|RASopathy [RCV001080766]|not provided [RCV000514229]|not specified [RCV000038350] Chr11:119206522..119206523 [GRCh38]
Chr11:119077232..119077233 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005188.4(CBL):c.306T>G (p.Tyr102Ter) single nucleotide variant CBL-related disorder [RCV000984977]|not provided [RCV000033348] Chr11:119232558 [GRCh38]
Chr11:119103268 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_005188.4(CBL):c.698A>G (p.Asn233Ser) single nucleotide variant RASopathy [RCV002513321]|not provided [RCV000033349]|not specified [RCV001818205] Chr11:119273975 [GRCh38]
Chr11:119144685 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1076_1087del (p.Asp359_Lys362del) deletion RASopathy [RCV000033351] Chr11:119277822..119277833 [GRCh38]
Chr11:119148532..119148543 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_005188.4(CBL):c.1199T>G (p.Met400Arg) single nucleotide variant not provided [RCV000033353] Chr11:119278269 [GRCh38]
Chr11:119148979 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_005188.4(CBL):c.1201T>C (p.Cys401Arg) single nucleotide variant CBL-related disorder [RCV002054537]|RASopathy [RCV001041352]|not provided [RCV000033354] Chr11:119278271 [GRCh38]
Chr11:119148981 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|uncertain significance
NM_005188.4(CBL):c.1227+2_1227+4delinsAAG indel RASopathy [RCV000033355] Chr11:119278299..119278301 [GRCh38]
Chr11:119149009..119149011 [GRCh37]
Chr11:11q23.3		 pathogenic
CBL:c.1382_1383insTGA (p.Glu461delinsAspGlu) insertion Rasopathy [RCV000033357] Chr11:119278664..119278665 [GRCh38]
Chr11:119149374..119149375 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1459A>G (p.Met487Val) single nucleotide variant CBL-related disorder [RCV001102985]|Noonan syndrome and Noonan-related syndrome [RCV001813227]|RASopathy [RCV000553397]|not provided [RCV000033360]|not specified [RCV001193411] Chr11:119284996 [GRCh38]
Chr11:119155706 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_005188.4(CBL):c.1723A>G (p.Arg575Gly) single nucleotide variant CBL-related disorder [RCV003325178]|RASopathy [RCV001852672]|not provided [RCV000033361]|not specified [RCV001818206] Chr11:119285348 [GRCh38]
Chr11:119156058 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1823C>A (p.Pro608His) single nucleotide variant RASopathy [RCV001852673]|not provided [RCV000033362] Chr11:119285448 [GRCh38]
Chr11:119156158 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1871T>C (p.Leu624Ser) single nucleotide variant Cardiovascular phenotype [RCV002408492]|RASopathy [RCV000459030]|not provided [RCV000033363] Chr11:119285496 [GRCh38]
Chr11:119156206 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1991T>C (p.Ile664Thr) single nucleotide variant RASopathy [RCV002513322]|not provided [RCV000033364] Chr11:119287901 [GRCh38]
Chr11:119158611 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2206A>G (p.Asn736Asp) single nucleotide variant RASopathy [RCV002513323]|not specified [RCV000033365] Chr11:119297436 [GRCh38]
Chr11:119168146 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe) single nucleotide variant CBL-related condition [RCV003944863]|CBL-related disorder [RCV000296277]|Noonan syndrome and Noonan-related syndrome [RCV001813228]|RASopathy [RCV001089042]|not provided [RCV000680285]|not specified [RCV000038355] Chr11:119297446 [GRCh38]
Chr11:119168156 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) single nucleotide variant CBL-related disorder [RCV001001629]|Juvenile myelomonocytic leukemia [RCV003315531]|Noonan syndrome and Noonan-related syndrome [RCV001813229]|RASopathy [RCV001080932]|not provided [RCV000514779]|not specified [RCV000120463] Chr11:119298375 [GRCh38]
Chr11:119169085 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_005188.4(CBL):c.2312A>T (p.Asp771Val) single nucleotide variant CBL-related condition [RCV003914896]|Inborn genetic diseases [RCV002514142]|Noonan syndrome and Noonan-related syndrome [RCV001813230]|RASopathy [RCV000552056]|not provided [RCV001719718]|not specified [RCV000038356] Chr11:119298418 [GRCh38]
Chr11:119169128 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) single nucleotide variant CBL-related disorder [RCV000106328]|Cardiovascular phenotype [RCV002426535]|Noonan syndrome and Noonan-related syndrome [RCV001813231]|RASopathy [RCV001088335]|not provided [RCV000680286]|not specified [RCV000038358] Chr11:119298451 [GRCh38]
Chr11:119169161 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_005188.4(CBL):c.2350G>A (p.Val784Met) single nucleotide variant CBL-related condition [RCV003415758]|Juvenile myelomonocytic leukemia [RCV002504854]|RASopathy [RCV000467413]|not provided [RCV000033370] Chr11:119298456 [GRCh38]
Chr11:119169166 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.2360G>A (p.Arg787His) single nucleotide variant RASopathy [RCV000473552]|not provided [RCV000033371]|not specified [RCV001582505] Chr11:119298466 [GRCh38]
Chr11:119169176 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.2542G>A (p.Ala848Thr) single nucleotide variant RASopathy [RCV000475436]|not provided [RCV003421940]|not specified [RCV000033373] Chr11:119299602 [GRCh38]
Chr11:119170312 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2584G>A (p.Glu862Lys) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002504855]|RASopathy [RCV001223148]|not provided [RCV000033374] Chr11:119299644 [GRCh38]
Chr11:119170354 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser) single nucleotide variant CBL-related condition [RCV003924884]|CBL-related disorder [RCV001103084]|Inborn genetic diseases [RCV002513324]|RASopathy [RCV000540019]|not provided [RCV000680287]|not specified [RCV000038357] Chr11:119299648 [GRCh38]
Chr11:119170358 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005188.4(CBL):c.2692A>G (p.Ile898Val) single nucleotide variant Inborn genetic diseases [RCV003258657]|RASopathy [RCV000533281]|not provided [RCV000033376] Chr11:119299752 [GRCh38]
Chr11:119170462 [GRCh37]
Chr11:11q23.3		 uncertain significance
CBL, IVS8AS, A-G, -2 single nucleotide variant Noonan syndrome-like disorder with juvenile myelomonocytic leukemia [RCV000022697] Chr11:11q23.3 pathogenic
NM_005188.4(CBL):c.1150T>C (p.Cys384Arg) single nucleotide variant Hematologic neoplasm [RCV000420743]|Noonan syndrome-like disorder with juvenile myelomonocytic leukemia [RCV000022698]|RASopathy [RCV001857355]|not provided [RCV001561040] Chr11:119278220 [GRCh38]
Chr11:119148930 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|uncertain significance
NM_005188.4(CBL):c.1186T>C (p.Cys396Arg) single nucleotide variant Noonan syndrome-like disorder with juvenile myelomonocytic leukemia [RCV000022699]|RASopathy [RCV002513172]|not provided [RCV000157860] Chr11:119278256 [GRCh38]
Chr11:119148966 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_005188.4(CBL):c.1112A>G (p.Tyr371Cys) single nucleotide variant Juvenile myelomonocytic leukemia [RCV000022700]|Noonan syndrome-like disorder with juvenile myelomonocytic leukemia [RCV000211127]|not provided [RCV002223763] Chr11:119278182 [GRCh38]
Chr11:119148892 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) single nucleotide variant CBL-related disorder [RCV001353389]|Fragile site 11b [RCV000014818]|Inborn genetic diseases [RCV001266923]|Noonan syndrome and Noonan-related syndrome [RCV001813204]|RASopathy [RCV000702464]|not provided [RCV000033352] Chr11:119278170 [GRCh38]
Chr11:119148880 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_005188.4(CBL):c.1144A>G (p.Lys382Glu) single nucleotide variant Fragile site 11b [RCV000014819]|RASopathy [RCV001851859]|not provided [RCV001268437] Chr11:119278214 [GRCh38]
Chr11:119148924 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|uncertain significance
NM_005188.4(CBL):c.1168G>T (p.Asp390Tyr) single nucleotide variant Fragile site 11b [RCV000014820] Chr11:119278238 [GRCh38]
Chr11:119148948 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) single nucleotide variant CBL-related disorder [RCV001705593]|Fragile site 11b [RCV000014821]|Myeloproliferative disorder [RCV003447475]|RASopathy [RCV000816470]|Rhabdomyosarcoma [RCV001257538]|not provided [RCV000414703] Chr11:119278541 [GRCh38]
Chr11:119149251 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|uncertain significance
NM_005188.4(CBL):c.1111T>C (p.Tyr371His) single nucleotide variant CBL-related disorder [RCV003387502]|Hematologic neoplasm [RCV000437548]|Juvenile myelomonocytic leukemia [RCV001527385]|Juvenile myelomonocytic leukemia [RCV003315401]|Noonan syndrome-like disorder with juvenile myelomonocytic leukemia [RCV000014822]|RASopathy [RCV000691502]|See cases [RCV002274879]|not provided [RCV000441724] Chr11:119278181 [GRCh38]
Chr11:119148891 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_005188.4(CBL):c.195+22C>T single nucleotide variant not provided [RCV001544774] Chr11:119206634 [GRCh38]
Chr11:119077344 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.204G>T (p.Arg68=) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813521]|RASopathy [RCV003105986]|not specified [RCV000603113] Chr11:119232456 [GRCh38]
Chr11:119103166 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1927C>T (p.Leu643=) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002497197]|RASopathy [RCV001505302]|not specified [RCV000825715] Chr11:119285552 [GRCh38]
Chr11:119156262 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.93C>A (p.Asp31Glu) single nucleotide variant CBL-related disorder [RCV000578005]|Juvenile myelomonocytic leukemia [RCV002497221]|RASopathy [RCV001860001]|not provided [RCV001770529] Chr11:119206510 [GRCh38]
Chr11:119077220 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_005188.4(CBL):c.869+4A>G single nucleotide variant CBL-related disorder [RCV000339761]|Cardiovascular phenotype [RCV002371836]|Juvenile myelomonocytic leukemia [RCV003315565]|Noonan syndrome and Noonan-related syndrome [RCV001813350]|RASopathy [RCV000049224]|not provided [RCV000224916]|not specified [RCV000038366] Chr11:119274957 [GRCh38]
Chr11:119145667 [GRCh37]
Chr11:11q23.3		 pathogenic|benign
NM_005188.4(CBL):c.869+19A>G single nucleotide variant Juvenile myelomonocytic leukemia [RCV002504948]|Juvenile myelomonocytic leukemia [RCV003315578]|RASopathy [RCV000049225]|not specified [RCV000250922] Chr11:119274972 [GRCh38]
Chr11:119145682 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.1095+19G>T single nucleotide variant CBL-related disorder [RCV000610899]|Juvenile myelomonocytic leukemia [RCV003315579]|RASopathy [RCV000049226]|not provided [RCV000509552]|not specified [RCV000246549] Chr11:119277863 [GRCh38]
Chr11:119148573 [GRCh37]
Chr11:11q23.3		 benign|not provided
NM_005188.4(CBL):c.1227+4C>T single nucleotide variant CBL-related condition [RCV003934924]|CBL-related disorder [RCV001000140]|Juvenile myelomonocytic leukemia [RCV002490522]|Juvenile myelomonocytic leukemia [RCV003315559]|Noonan syndrome and Noonan-related syndrome [RCV001813344]|RASopathy [RCV000049227]|not provided [RCV001705685]|not specified [RCV000038348] Chr11:119278301 [GRCh38]
Chr11:119149011 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
NM_005188.4(CBL):c.1071C>T (p.Pro357=) single nucleotide variant RASopathy [RCV002513503]|not specified [RCV000038345] Chr11:119277820 [GRCh38]
Chr11:119148530 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1096-1G>C single nucleotide variant Inborn genetic diseases [RCV000624342]|Juvenile myelomonocytic leukemia [RCV002482996]|Noonan syndrome [RCV000038346]|Noonan syndrome-like disorder with juvenile myelomonocytic leukemia [RCV001270818]|RASopathy [RCV001852803]|not provided [RCV001789707] Chr11:119278165 [GRCh38]
Chr11:119148875 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|not provided
NM_005188.4(CBL):c.1096-4_1096-1del deletion CBL-related disorder [RCV000038347]|Noonan syndrome [RCV000844689]|RASopathy [RCV000157871] Chr11:119278162..119278165 [GRCh38]
Chr11:119148872..119148875 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_005188.4(CBL):c.1228-10dup duplication Noonan-like syndrome [RCV000405234]|RASopathy [RCV001511169]|not specified [RCV000038349] Chr11:119278498..119278499 [GRCh38]
Chr11:119149208..119149209 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) microsatellite RASopathy [RCV000033357]|not provided [RCV001703887]|not specified [RCV000038351] Chr11:119278645..119278646 [GRCh38]
Chr11:119149355..119149356 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005188.4(CBL):c.1485G>A (p.Pro495=) single nucleotide variant CBL-related disorder [RCV000312522]|Cardiovascular phenotype [RCV002390157]|Juvenile myelomonocytic leukemia [RCV003315560]|Noonan syndrome and Noonan-related syndrome [RCV001813345]|RASopathy [RCV000469343]|not provided [RCV001811271]|not specified [RCV000038352] Chr11:119285022 [GRCh38]
Chr11:119155732 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.1641T>C (p.Pro547=) single nucleotide variant CBL-related disorder [RCV000354617]|Cardiovascular phenotype [RCV002399378]|Juvenile myelomonocytic leukemia [RCV003315561]|Noonan syndrome and Noonan-related syndrome [RCV001813346]|RASopathy [RCV000124140]|not provided [RCV001727536]|not specified [RCV000038353] Chr11:119285266 [GRCh38]
Chr11:119155976 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) single nucleotide variant CBL-related disorder [RCV001000367]|Cardiovascular phenotype [RCV002408519]|Juvenile myelomonocytic leukemia [RCV002496610]|Juvenile myelomonocytic leukemia [RCV003315562]|Noonan syndrome and Noonan-related syndrome [RCV001813347]|RASopathy [RCV000229556]|not provided [RCV001701577]|not specified [RCV000038354] Chr11:119285483 [GRCh38]
Chr11:119156193 [GRCh37]
Chr11:11q23.3		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_005188.3(CBL):c.2434+15_2434+16insT insertion AllHighlyPenetrant [RCV000038359]|not specified [RCV000038359] Chr11:119298555 [GRCh38]
Chr11:119169265 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln) single nucleotide variant CBL-related condition [RCV003974883]|CBL-related disorder [RCV001103082]|RASopathy [RCV001320329]|not provided [RCV003326336]|not specified [RCV000038360] Chr11:119299546 [GRCh38]
Chr11:119170256 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.2583C>T (p.Ile861=) single nucleotide variant RASopathy [RCV002054696]|not specified [RCV000038361] Chr11:119299643 [GRCh38]
Chr11:119170353 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2589C>G (p.Asn863Lys) single nucleotide variant not specified [RCV000038362] Chr11:119299649 [GRCh38]
Chr11:119170359 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2592C>T (p.Leu864=) single nucleotide variant CBL-related disorder [RCV000404375]|Cardiovascular phenotype [RCV002453316]|Juvenile myelomonocytic leukemia [RCV003315563]|Noonan syndrome and Noonan-related syndrome [RCV001813348]|RASopathy [RCV000462737]|not specified [RCV000038363] Chr11:119299652 [GRCh38]
Chr11:119170362 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.513T>C (p.Ser171=) single nucleotide variant CBL-related disorder [RCV000317534]|Cardiovascular phenotype [RCV002345298]|Juvenile myelomonocytic leukemia [RCV003315564]|Noonan syndrome and Noonan-related syndrome [RCV001813349]|RASopathy [RCV000227508]|not provided [RCV001811272]|not specified [RCV000038364] Chr11:119271804 [GRCh38]
Chr11:119142514 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.595A>G (p.Ile199Val) single nucleotide variant RASopathy [RCV001317408]|not provided [RCV000766699]|not specified [RCV000038365] Chr11:119273872 [GRCh38]
Chr11:119144582 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25		 pathogenic
Single allele duplication not specified [RCV000173364] Chr11:119206544..119206545 [GRCh38]
Chr11:119077254..119077255 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
NM_005188.4(CBL):c.445C>T (p.Arg149Ter) single nucleotide variant RASopathy [RCV003654196]|not provided [RCV000413050]|not specified [RCV003317074] Chr11:119271736 [GRCh38]
Chr11:119142446 [GRCh37]
Chr11:118647656 [NCBI36]
Chr11:11q23.3		 uncertain significance|not provided
NM_005188.4(CBL):c.1463C>T (p.Ala488Val) single nucleotide variant CBL-related disorder [RCV000106326]|Juvenile myelomonocytic leukemia [RCV000763710]|Noonan syndrome and Noonan-related syndrome [RCV001813377]|RASopathy [RCV001854518] Chr11:119285000 [GRCh38]
Chr11:119155710 [GRCh37]
Chr11:11q23.3		 uncertain significance|not provided
NM_005188.4(CBL):c.1711G>A (p.Asp571Asn) single nucleotide variant CBL-related disorder [RCV000106327]|RASopathy [RCV001854519] Chr11:119285336 [GRCh38]
Chr11:119156046 [GRCh37]
Chr11:11q23.3		 uncertain significance|not provided
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser) single nucleotide variant Juvenile myelomonocytic leukemia [RCV000660642]|RASopathy [RCV001042520] Chr11:119278182 [GRCh38]
Chr11:119148892 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|uncertain significance
NM_005188.4(CBL):c.1095+18T>G single nucleotide variant not specified [RCV000124134] Chr11:119277862 [GRCh38]
Chr11:119148572 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.1287C>T (p.Ile429=) single nucleotide variant CBL-related condition [RCV003965042]|CBL-related disorder [RCV000988760]|Cardiovascular phenotype [RCV002381436]|Noonan syndrome and Noonan-related syndrome [RCV001813383]|RASopathy [RCV000466105]|not provided [RCV003422009]|not specified [RCV000124137] Chr11:119278569 [GRCh38]
Chr11:119149279 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.1564-13C>T single nucleotide variant CBL-related disorder [RCV000262813]|RASopathy [RCV002055448]|not specified [RCV000124139] Chr11:119285176 [GRCh38]
Chr11:119155886 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.2190G>C (p.Thr730=) single nucleotide variant CBL-related condition [RCV003891655]|CBL-related disorder [RCV000391887]|Cardiovascular phenotype [RCV002415611]|Juvenile myelomonocytic leukemia [RCV003315844]|Noonan syndrome and Noonan-related syndrome [RCV001813384]|RASopathy [RCV000233667]|not provided [RCV001579706]|not specified [RCV000124142] Chr11:119297420 [GRCh38]
Chr11:119168130 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005188.4(CBL):c.2484G>A (p.Pro828=) single nucleotide variant CBL-related disorder [RCV001103081]|Cardiovascular phenotype [RCV002426536]|Juvenile myelomonocytic leukemia [RCV003315532]|Noonan syndrome and Noonan-related syndrome [RCV001813232]|RASopathy [RCV000460543]|not provided [RCV002227048]|not specified [RCV000154693] Chr11:119299544 [GRCh38]
Chr11:119170254 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_005188.4(CBL):c.2050C>T (p.Pro684Ser) single nucleotide variant CBL-related disorder [RCV000327543]|Juvenile myelomonocytic leukemia [RCV001682830]|RASopathy [RCV002514626]|not provided [RCV000680340]|not specified [RCV000120458] Chr11:119296931 [GRCh38]
Chr11:119167641 [GRCh37]
Chr11:11q23.3		 uncertain significance|not provided
NM_005188.4(CBL):c.2125C>T (p.Arg709Trp) single nucleotide variant CBL-related disorder [RCV001108284]|RASopathy [RCV002515827]|not provided [RCV003144131]|not specified [RCV000120459] Chr11:119297006 [GRCh38]
Chr11:119167716 [GRCh37]
Chr11:11q23.3		 uncertain significance|not provided
NM_005188.4(CBL):c.2077G>A (p.Glu693Lys) single nucleotide variant RASopathy [RCV001854602]|not specified [RCV000120460] Chr11:119296958 [GRCh38]
Chr11:119167668 [GRCh37]
Chr11:11q23.3		 uncertain significance|not provided
NM_005188.4(CBL):c.2224C>T (p.Pro742Ser) single nucleotide variant not specified [RCV000120461] Chr11:119297454 [GRCh38]
Chr11:119168164 [GRCh37]
Chr11:11q23.3		 not provided
NM_005188.4(CBL):c.2393C>T (p.Ser798Phe) single nucleotide variant RASopathy [RCV000815109]|not specified [RCV000120462] Chr11:119298499 [GRCh38]
Chr11:119169209 [GRCh37]
Chr11:11q23.3		 uncertain significance|not provided
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg) single nucleotide variant CBL-related disorder [RCV001103083]|Juvenile myelomonocytic leukemia [RCV002477308]|RASopathy [RCV002517578]|not specified [RCV000120464] Chr11:119299590 [GRCh38]
Chr11:119170300 [GRCh37]
Chr11:11q23.3		 uncertain significance|not provided
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) single nucleotide variant CBL-related disorder [RCV000298937]|Cardiovascular phenotype [RCV002426667]|Juvenile myelomonocytic leukemia [RCV003315742]|Noonan syndrome and Noonan-related syndrome [RCV001813379]|RASopathy [RCV001084617]|not provided [RCV000514119]|not specified [RCV000120465] Chr11:119299770 [GRCh38]
Chr11:119170480 [GRCh37]
Chr11:11q23.3		 benign|likely benign|not provided
NM_005188.4(CBL):c.271A>G (p.Thr91Ala) single nucleotide variant RASopathy [RCV003539790]|not specified [RCV000120466] Chr11:119232523 [GRCh38]
Chr11:119103233 [GRCh37]
Chr11:11q23.3		 uncertain significance|not provided
NM_005188.4(CBL):c.388A>G (p.Ile130Val) single nucleotide variant not specified [RCV000120467] Chr11:119232640 [GRCh38]
Chr11:119103350 [GRCh37]
Chr11:11q23.3		 not provided
NM_005188.4(CBL):c.560C>T (p.Ala187Val) single nucleotide variant Inborn genetic diseases [RCV002514627]|RASopathy [RCV001854603]|not specified [RCV000120468] Chr11:119271851 [GRCh38]
Chr11:119142561 [GRCh37]
Chr11:11q23.3		 uncertain significance|not provided
NM_005188.4(CBL):c.1681C>T (p.Gln561Ter) single nucleotide variant CBL-related disorder [RCV001331369] Chr11:119285306 [GRCh38]
Chr11:119156016 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2603G>T (p.Gly868Val) single nucleotide variant not specified [RCV001293470] Chr11:119299663 [GRCh38]
Chr11:119170373 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1942-23C>T single nucleotide variant not provided [RCV001545485] Chr11:119287829 [GRCh38]
Chr11:119158539 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1027C>T (p.Arg343Ter) single nucleotide variant CBL-related condition [RCV003401896]|RASopathy [RCV001919275]|not provided [RCV003442963] Chr11:119277776 [GRCh38]
Chr11:119148486 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2230A>G (p.Ile744Val) single nucleotide variant RASopathy [RCV002570670]|not provided [RCV001545895] Chr11:119297460 [GRCh38]
Chr11:119168170 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2262T>G (p.Asn754Lys) single nucleotide variant Inborn genetic diseases [RCV002570821]|RASopathy [RCV001882695]|not provided [RCV001579947] Chr11:119298368 [GRCh38]
Chr11:119169078 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.710C>T (p.Ser237Leu) single nucleotide variant CBL-related disorder [RCV001327985] Chr11:119273987 [GRCh38]
Chr11:119144697 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1228-1G>A single nucleotide variant CBL-related disorder [RCV003445557]|not provided [RCV000128634] Chr11:119278509 [GRCh38]
Chr11:119149219 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3(chr11:118933083-119215291)x3 copy number gain See cases [RCV000137489] Chr11:118933083..119215291 [GRCh38]
Chr11:118803792..119086001 [GRCh37]
Chr11:118309002..118591211 [NCBI36]
Chr11:11q23.3		 likely benign
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
NM_005188.4(CBL):c.1754G>T (p.Arg585Leu) single nucleotide variant CBL-related disorder [RCV000492503]|RASopathy [RCV001244706]|not specified [RCV000155901] Chr11:119285379 [GRCh38]
Chr11:119156089 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_005188.4(CBL):c.522T>C (p.Phe174=) single nucleotide variant RASopathy [RCV002055957]|not specified [RCV000150237] Chr11:119271813 [GRCh38]
Chr11:119142523 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.801C>G (p.Gly267=) single nucleotide variant RASopathy [RCV000654930]|not specified [RCV000150238] Chr11:119274885 [GRCh38]
Chr11:119145595 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1129A>G (p.Thr377Ala) single nucleotide variant Inborn genetic diseases [RCV001265818]|not specified [RCV000150240] Chr11:119278199 [GRCh38]
Chr11:119148909 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1962A>G (p.Leu654=) single nucleotide variant not specified [RCV000150242] Chr11:119287872 [GRCh38]
Chr11:119158582 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) single nucleotide variant CBL-related condition [RCV003945244]|CBL-related disorder [RCV001104890]|Cardiovascular phenotype [RCV002390364]|Noonan syndrome and Noonan-related syndrome [RCV001813404]|RASopathy [RCV000466595]|not provided [RCV003422048]|not specified [RCV000156176] Chr11:119285272 [GRCh38]
Chr11:119155982 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_005188.4(CBL):c.12C>T (p.Asn4=) single nucleotide variant Cardiovascular phenotype [RCV002381503]|Juvenile myelomonocytic leukemia [RCV003315944]|RASopathy [RCV000554156]|not specified [RCV000156588] Chr11:119206429 [GRCh38]
Chr11:119077139 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005188.4(CBL):c.1228-2A>G single nucleotide variant CBL-related disorder [RCV001808423]|Juvenile myelomonocytic leukemia [RCV000220945]|Malignant germ cell tumor of ovary [RCV000722039]|Noonan syndrome [RCV000154623]|Noonan syndrome-like disorder with juvenile myelomonocytic leukemia [RCV001678585]|RASopathy [RCV000705134]|not provided [RCV000157861] Chr11:119278508 [GRCh38]
Chr11:119149218 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|uncertain significance
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys) single nucleotide variant CBL-related condition [RCV003945215]|Cardiovascular phenotype [RCV002444637]|Noonan syndrome and Noonan-related syndrome [RCV001813399]|RASopathy [RCV000555815]|not specified [RCV000154692] Chr11:119298465 [GRCh38]
Chr11:119169175 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1359A>C (p.Pro453=) single nucleotide variant CBL-related condition [RCV003975171]|Cardiovascular phenotype [RCV002381464]|Juvenile myelomonocytic leukemia [RCV003315938]|RASopathy [RCV000232869]|not provided [RCV001698975]|not specified [RCV000150241] Chr11:119278641 [GRCh38]
Chr11:119149351 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.1099C>A (p.Gln367Lys) single nucleotide variant Inborn genetic diseases [RCV001265817]|Noonan syndrome [RCV000155642]|RASopathy [RCV002514998] Chr11:119278169 [GRCh38]
Chr11:119148879 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_005188.2:c.1227+20insC insertion RASopathy [RCV000157848] Chr11:11q23.3 benign
NM_005188.2:c.1228-10insT insertion RASopathy [RCV000157849] Chr11:11q23.3 benign
NM_005188.2:c.1227+2_1227+3delTACinsAAG insertion RASopathy [RCV000157872] Chr11:11q23.3 pathogenic
NM_005188.4(CBL):c.2519G>C (p.Cys840Ser) single nucleotide variant Noonan syndrome [RCV000157138] Chr11:119299579 [GRCh38]
Chr11:119170289 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.107ACC[6] (p.His42del) microsatellite Juvenile myelomonocytic leukemia [RCV002498786]|RASopathy [RCV000157851]|not specified [RCV001579695] Chr11:119206523..119206525 [GRCh38]
Chr11:119077233..119077235 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.1829C>A (p.Thr610Lys) single nucleotide variant CBL-related disorder [RCV000324245]|not specified [RCV000157852] Chr11:119285454 [GRCh38]
Chr11:119156164 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.2062C>T (p.Pro688Ser) single nucleotide variant Cardiovascular phenotype [RCV002415688]|RASopathy [RCV001308075]|not provided [RCV001704137] Chr11:119296943 [GRCh38]
Chr11:119167653 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.202C>T (p.Arg68Trp) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002484966]|RASopathy [RCV000549374]|not provided [RCV000157854] Chr11:119232454 [GRCh38]
Chr11:119103164 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.469A>G (p.Ile157Val) single nucleotide variant Cardiovascular phenotype [RCV003298177]|RASopathy [RCV002516374]|not provided [RCV000157855]|not specified [RCV001192738] Chr11:119271760 [GRCh38]
Chr11:119142470 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.539G>A (p.Arg180Gln) single nucleotide variant not provided [RCV000157856] Chr11:119271830 [GRCh38]
Chr11:119142540 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.838C>T (p.Arg280Trp) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002478473]|RASopathy [RCV000819186] Chr11:119274922 [GRCh38]
Chr11:119145632 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1096-1G>T single nucleotide variant Fragile site 11b [RCV001249230]|Noonan syndrome [RCV000217231]|RASopathy [RCV000702743]|not provided [RCV000157858] Chr11:119278165 [GRCh38]
Chr11:119148875 [GRCh37]
Chr11:11q23.3		 pathogenic|not provided
NM_005188.4(CBL):c.1150T>G (p.Cys384Gly) single nucleotide variant RASopathy [RCV003018533] Chr11:119278220 [GRCh38]
Chr11:119148930 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_005188.4(CBL):c.1298C>T (p.Pro433Leu) single nucleotide variant Inborn genetic diseases [RCV002515062]|Noonan syndrome and Noonan-related syndrome [RCV001813407]|RASopathy [RCV001850196]|not provided [RCV000157862]|not specified [RCV002271423] Chr11:119278580 [GRCh38]
Chr11:119149290 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.125A>T (p.His42Leu) single nucleotide variant Cardiovascular phenotype [RCV002426771]|RASopathy [RCV000555209]|not provided [RCV000417822] Chr11:119206542 [GRCh38]
Chr11:119077252 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe) single nucleotide variant CBL-related disorder [RCV001102986]|Inborn genetic diseases [RCV000622732]|RASopathy [RCV000707567]|not provided [RCV000157864]|not specified [RCV001818346] Chr11:119285014 [GRCh38]
Chr11:119155724 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005188.4(CBL):c.1754G>A (p.Arg585His) single nucleotide variant RASopathy [RCV000546705]|not provided [RCV000157865] Chr11:119285379 [GRCh38]
Chr11:119156089 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1778G>A (p.Arg593Gln) single nucleotide variant Cardiovascular phenotype [RCV002399566]|RASopathy [RCV001850197]|not provided [RCV000157866] Chr11:119285403 [GRCh38]
Chr11:119156113 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu) single nucleotide variant CBL-related disorder [RCV000287851]|Noonan syndrome and Noonan-related syndrome [RCV001813408]|RASopathy [RCV000654929]|not provided [RCV001704138]|not specified [RCV001280639] Chr11:119296941 [GRCh38]
Chr11:119167651 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln) single nucleotide variant RASopathy [RCV001089115]|not provided [RCV000157868]|not specified [RCV001818347] Chr11:119298469 [GRCh38]
Chr11:119169179 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005188.4(CBL):c.2503C>T (p.Arg835Trp) single nucleotide variant RASopathy [RCV001850198]|not provided [RCV000157869] Chr11:119299563 [GRCh38]
Chr11:119170273 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.976del (p.Gln326fs) deletion not provided [RCV000157870] Chr11:119276102 [GRCh38]
Chr11:119146812 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn) single nucleotide variant CBL-related disorder [RCV001814073]|Neurodevelopmental disorder [RCV002277316]|Noonan syndrome 1 [RCV000856726]|RASopathy [RCV003539801]|not specified [RCV000506397] Chr11:119278181 [GRCh38]
Chr11:119148891 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_005188.4(CBL):c.1320C>T (p.Gly440=) single nucleotide variant CBL-related condition [RCV003895207]|RASopathy [RCV002054154]|not provided [RCV000180613] Chr11:119278602 [GRCh38]
Chr11:119149312 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.*560_*561insAT insertion Noonan syndrome and Noonan-related syndrome [RCV001813425]|not specified [RCV000192704] Chr11:119300341..119300342 [GRCh38]
Chr11:119171051..119171052 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.*559_*560insC insertion Noonan syndrome and Noonan-related syndrome [RCV001813424]|not specified [RCV000194675] Chr11:119300340..119300341 [GRCh38]
Chr11:119171050..119171051 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1891A>G (p.Arg631Gly) single nucleotide variant CBL-related condition [RCV003895274]|RASopathy [RCV000199649]|not provided [RCV003165475]|not specified [RCV000214364] Chr11:119285516 [GRCh38]
Chr11:119156226 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.243A>G (p.Pro81=) single nucleotide variant RASopathy [RCV001451557] Chr11:119232495 [GRCh38]
Chr11:119103205 [GRCh37]
Chr11:11q23.3		 pathogenic|likely benign
NM_005188.4(CBL):c.1237G>C (p.Gly413Arg) single nucleotide variant CBL-related disorder [RCV002288955]|not provided [RCV000376659] Chr11:119278519 [GRCh38]
Chr11:119149229 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_005188.4(CBL):c.1283_1384del (p.Pro428_Glu461del) deletion not specified [RCV000221068] Chr11:119278560..119278661 [GRCh38]
Chr11:119149275..119149376 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.292A>G (p.Ile98Val) single nucleotide variant RASopathy [RCV000543468] Chr11:119232544 [GRCh38]
Chr11:119103254 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys) single nucleotide variant Cardiovascular phenotype [RCV003298302]|Juvenile myelomonocytic leukemia [RCV002487074]|RASopathy [RCV000231078] Chr11:119296964 [GRCh38]
Chr11:119167674 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.2036+9G>T single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813433]|RASopathy [RCV001079807]|not provided [RCV000513712]|not specified [RCV000615610] Chr11:119287955 [GRCh38]
Chr11:119158665 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_005188.4(CBL):c.195+10C>A single nucleotide variant RASopathy [RCV000233252] Chr11:119206622 [GRCh38]
Chr11:119077332 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002500788]|RASopathy [RCV000227838]|not specified [RCV000592226] Chr11:119285048 [GRCh38]
Chr11:119155758 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2251+9C>A single nucleotide variant RASopathy [RCV000526835] Chr11:119297490 [GRCh38]
Chr11:119168200 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1810A>G (p.Ser604Gly) single nucleotide variant RASopathy [RCV000545633] Chr11:119285435 [GRCh38]
Chr11:119156145 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1227+20dup duplication RASopathy [RCV001518779]|not provided [RCV001579792]|not specified [RCV000251300] Chr11:119278316..119278317 [GRCh38]
Chr11:119149026..119149027 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.748-21_748-20del microsatellite not specified [RCV000246414] Chr11:119274809..119274810 [GRCh38]
Chr11:119145519..119145520 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2337A>G (p.Pro779=) single nucleotide variant Cardiovascular phenotype [RCV002456265]|RASopathy [RCV000526083] Chr11:119298443 [GRCh38]
Chr11:119169153 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_005188.4(CBL):c.*1158A>G single nucleotide variant CBL-related disorder [RCV000282527] Chr11:119300939 [GRCh38]
Chr11:119171649 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_005188.4(CBL):c.*7314T>C single nucleotide variant CBL-related disorder [RCV000267370] Chr11:119307095 [GRCh38]
Chr11:119177805 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*6732C>A single nucleotide variant CBL-related disorder [RCV000393930] Chr11:119306513 [GRCh38]
Chr11:119177223 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*3437C>T single nucleotide variant CBL-related disorder [RCV000264845] Chr11:119303218 [GRCh38]
Chr11:119173928 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*1487A>G single nucleotide variant CBL-related disorder [RCV000302216] Chr11:119301268 [GRCh38]
Chr11:119171978 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*8149A>G single nucleotide variant CBL-related disorder [RCV000267940] Chr11:119307930 [GRCh38]
Chr11:119178640 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*239A>G single nucleotide variant CBL-related disorder [RCV000268415] Chr11:119300020 [GRCh38]
Chr11:119170730 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*6175A>G single nucleotide variant CBL-related disorder [RCV000284728] Chr11:119305956 [GRCh38]
Chr11:119176666 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*8048G>A single nucleotide variant CBL-related disorder [RCV000302826] Chr11:119307829 [GRCh38]
Chr11:119178539 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.2096A>G (p.Glu699Gly) single nucleotide variant CBL-related disorder [RCV000345485] Chr11:119296977 [GRCh38]
Chr11:119167687 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*513A>G single nucleotide variant CBL-related disorder [RCV000269927] Chr11:119300294 [GRCh38]
Chr11:119171004 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*7366C>T single nucleotide variant CBL-related disorder [RCV000324454] Chr11:119307147 [GRCh38]
Chr11:119177857 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*6703T>C single nucleotide variant CBL-related disorder [RCV000347193]|not provided [RCV003422241] Chr11:119306484 [GRCh38]
Chr11:119177194 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.*2697C>T single nucleotide variant CBL-related disorder [RCV000347447] Chr11:119302478 [GRCh38]
Chr11:119173188 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*1038del deletion Noonan-like syndrome [RCV000372293] Chr11:119300819 [GRCh38]
Chr11:119171529 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.*2224A>G single nucleotide variant CBL-related disorder [RCV000286810]|not provided [RCV003422237] Chr11:119302005 [GRCh38]
Chr11:119172715 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_005188.4(CBL):c.*3854G>A single nucleotide variant CBL-related disorder [RCV000325005] Chr11:119303635 [GRCh38]
Chr11:119174345 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*5987A>T single nucleotide variant CBL-related disorder [RCV000373177] Chr11:119305768 [GRCh38]
Chr11:119176478 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.852C>T (p.Phe284=) single nucleotide variant CBL-related disorder [RCV000286859]|Cardiovascular phenotype [RCV002446554] Chr11:119274936 [GRCh38]
Chr11:119145646 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.*2619C>T single nucleotide variant CBL-related disorder [RCV000287758] Chr11:119302400 [GRCh38]
Chr11:119173110 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*5717T>G single nucleotide variant CBL-related disorder [RCV000305556] Chr11:119305498 [GRCh38]
Chr11:119176208 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*4038A>G single nucleotide variant CBL-related disorder [RCV000349446] Chr11:119303819 [GRCh38]
Chr11:119174529 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*2045A>G single nucleotide variant CBL-related disorder [RCV000374919] Chr11:119301826 [GRCh38]
Chr11:119172536 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.*4868T>C single nucleotide variant CBL-related disorder [RCV000269449] Chr11:119304649 [GRCh38]
Chr11:119175359 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.3(CBL):c.-125C>T single nucleotide variant CBL-related disorder [RCV000272196]|not provided [RCV001642937] Chr11:119206293 [GRCh38]
Chr11:119077003 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.41G>A (p.Gly14Asp) single nucleotide variant CBL-related disorder [RCV000375826]|RASopathy [RCV003654251] Chr11:119206458 [GRCh38]
Chr11:119077168 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*2176T>C single nucleotide variant CBL-related disorder [RCV000376605]|not provided [RCV003422236] Chr11:119301957 [GRCh38]
Chr11:119172667 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*7559C>G single nucleotide variant CBL-related disorder [RCV000289292] Chr11:119307340 [GRCh38]
Chr11:119178050 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.*4031C>G single nucleotide variant CBL-related disorder [RCV000289793]|not provided [RCV003422239] Chr11:119303812 [GRCh38]
Chr11:119174522 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*1884C>T single nucleotide variant CBL-related disorder [RCV000273692] Chr11:119301665 [GRCh38]
Chr11:119172375 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*1686A>C single nucleotide variant CBL-related disorder [RCV000308229] Chr11:119301467 [GRCh38]
Chr11:119172177 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*6648T>G single nucleotide variant CBL-related disorder [RCV000308655] Chr11:119306429 [GRCh38]
Chr11:119177139 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*918T>C single nucleotide variant CBL-related disorder [RCV000330746]|not provided [RCV003422234] Chr11:119300699 [GRCh38]
Chr11:119171409 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_005188.4(CBL):c.*3656C>T single nucleotide variant CBL-related disorder [RCV000379298] Chr11:119303437 [GRCh38]
Chr11:119174147 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*5986T>C single nucleotide variant CBL-related disorder [RCV000332638] Chr11:119305767 [GRCh38]
Chr11:119176477 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*7143A>C single nucleotide variant CBL-related disorder [RCV000356311] Chr11:119306924 [GRCh38]
Chr11:119177634 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*8012T>C single nucleotide variant CBL-related disorder [RCV000356453] Chr11:119307793 [GRCh38]
Chr11:119178503 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*7447A>G single nucleotide variant CBL-related disorder [RCV000381388] Chr11:119307228 [GRCh38]
Chr11:119177938 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.*5756G>A single nucleotide variant CBL-related disorder [RCV000403301] Chr11:119305537 [GRCh38]
Chr11:119176247 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*6008T>C single nucleotide variant CBL-related disorder [RCV000259884] Chr11:119305789 [GRCh38]
Chr11:119176499 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.3(CBL):c.-106G>A single nucleotide variant CBL-related disorder [RCV000334215] Chr11:119206312 [GRCh38]
Chr11:119077022 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*4584C>A single nucleotide variant CBL-related disorder [RCV000358213] Chr11:119304365 [GRCh38]
Chr11:119175075 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.*4302C>T single nucleotide variant CBL-related disorder [RCV000405617] Chr11:119304083 [GRCh38]
Chr11:119174793 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*7659C>G single nucleotide variant CBL-related disorder [RCV000292924] Chr11:119307440 [GRCh38]
Chr11:119178150 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.*4931T>C single nucleotide variant CBL-related disorder [RCV000383838] Chr11:119304712 [GRCh38]
Chr11:119175422 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.*7659C>A single nucleotide variant CBL-related disorder [RCV000384902] Chr11:119307440 [GRCh38]
Chr11:119178150 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*7949C>A single nucleotide variant CBL-related disorder [RCV000407196] Chr11:119307730 [GRCh38]
Chr11:119178440 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*615C>T single nucleotide variant CBL-related disorder [RCV000275630]|Juvenile myelomonocytic leukemia [RCV002480103]|not provided [RCV003422233] Chr11:119300396 [GRCh38]
Chr11:119171106 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.*5123C>T single nucleotide variant CBL-related disorder [RCV000279426] Chr11:119304904 [GRCh38]
Chr11:119175614 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*39G>A single nucleotide variant CBL-related disorder [RCV000360675]|not provided [RCV001544903] Chr11:119299820 [GRCh38]
Chr11:119170530 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*1933C>T single nucleotide variant CBL-related disorder [RCV000260502] Chr11:119301714 [GRCh38]
Chr11:119172424 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*7903G>A single nucleotide variant CBL-related disorder [RCV000295903] Chr11:119307684 [GRCh38]
Chr11:119178394 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*4088C>T single nucleotide variant CBL-related disorder [RCV000296681] Chr11:119303869 [GRCh38]
Chr11:119174579 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*5093C>G single nucleotide variant CBL-related disorder [RCV000387962] Chr11:119304874 [GRCh38]
Chr11:119175584 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*3154C>T single nucleotide variant CBL-related disorder [RCV000298641]|not provided [RCV003422238] Chr11:119302935 [GRCh38]
Chr11:119173645 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*7978A>G single nucleotide variant CBL-related disorder [RCV000299393] Chr11:119307759 [GRCh38]
Chr11:119178469 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.-41C>T single nucleotide variant CBL-related disorder [RCV000318908] Chr11:119206377 [GRCh38]
Chr11:119077087 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*5718C>A single nucleotide variant CBL-related disorder [RCV000341693] Chr11:119305499 [GRCh38]
Chr11:119176209 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*5811C>T single nucleotide variant CBL-related disorder [RCV000365860] Chr11:119305592 [GRCh38]
Chr11:119176302 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*5183C>T single nucleotide variant CBL-related disorder [RCV000280486] Chr11:119304964 [GRCh38]
Chr11:119175674 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*5907T>C single nucleotide variant CBL-related disorder [RCV000367190] Chr11:119305688 [GRCh38]
Chr11:119176398 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.1094A>G (p.Gln365Arg) single nucleotide variant CBL-related disorder [RCV000393886]|RASopathy [RCV001850604] Chr11:119277843 [GRCh38]
Chr11:119148553 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*2129dup duplication Noonan-like syndrome [RCV000280443] Chr11:119301900..119301901 [GRCh38]
Chr11:119172610..119172611 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6099A>G single nucleotide variant CBL-related disorder [RCV000319837] Chr11:119305880 [GRCh38]
Chr11:119176590 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.*1594T>A single nucleotide variant CBL-related disorder [RCV000343039] Chr11:119301375 [GRCh38]
Chr11:119172085 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*5648T>C single nucleotide variant CBL-related disorder [RCV000391320] Chr11:119305429 [GRCh38]
Chr11:119176139 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.1516C>G (p.Arg506Gly) single nucleotide variant not provided [RCV000304245] Chr11:119285053 [GRCh38]
Chr11:119155763 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1351C>G (p.Pro451Ala) single nucleotide variant RASopathy [RCV003654246]|not provided [RCV000372415] Chr11:119278633 [GRCh38]
Chr11:119149343 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.839G>A (p.Arg280Gln) single nucleotide variant CBL-related disorder [RCV001108180]|RASopathy [RCV001855054]|not provided [RCV000372964] Chr11:119274923 [GRCh38]
Chr11:119145633 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_005188.4(CBL):c.*6542T>G single nucleotide variant CBL-related disorder [RCV000343762] Chr11:119306323 [GRCh38]
Chr11:119177033 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.3(CBL):c.-96G>A single nucleotide variant CBL-related disorder [RCV000367719]|not provided [RCV001561043] Chr11:119206322 [GRCh38]
Chr11:119077032 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*1447A>G single nucleotide variant CBL-related disorder [RCV000392307] Chr11:119301228 [GRCh38]
Chr11:119171938 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*1856T>C single nucleotide variant CBL-related disorder [RCV000368265] Chr11:119301637 [GRCh38]
Chr11:119172347 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*6575G>C single nucleotide variant CBL-related disorder [RCV000393915]|not provided [RCV003422240] Chr11:119306356 [GRCh38]
Chr11:119177066 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.3(CBL):c.-127_-125GGC[13] microsatellite Noonan syndrome and Noonan-related syndrome [RCV001813449]|Noonan-like syndrome [RCV000282354]|not provided [RCV001653482] Chr11:119206289..119206290 [GRCh38]
Chr11:119076999..119077000 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_005188.4(CBL):c.*6980T>C single nucleotide variant CBL-related disorder [RCV000260294] Chr11:119306761 [GRCh38]
Chr11:119177471 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*5860T>C single nucleotide variant CBL-related disorder [RCV000271541] Chr11:119305641 [GRCh38]
Chr11:119176351 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*3578A>T single nucleotide variant CBL-related disorder [RCV000324729] Chr11:119303359 [GRCh38]
Chr11:119174069 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.1360A>G (p.Asn454Asp) single nucleotide variant Noonan-like syndrome [RCV000370641]|RASopathy [RCV001850605]|not specified [RCV000593984] Chr11:119278642 [GRCh38]
Chr11:119149352 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.*3096C>G single nucleotide variant CBL-related disorder [RCV000370903] Chr11:119302877 [GRCh38]
Chr11:119173587 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.1366G>T (p.Asp456Tyr) single nucleotide variant not provided [RCV000276444] Chr11:119278648 [GRCh38]
Chr11:119149358 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2190G>A (p.Thr730=) single nucleotide variant Cardiovascular phenotype [RCV002418114]|RASopathy [RCV002518927]|not provided [RCV000278946] Chr11:119297420 [GRCh38]
Chr11:119168130 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005188.4(CBL):c.*1732del deletion Noonan-like syndrome [RCV000273037] Chr11:119301511 [GRCh38]
Chr11:119172221 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*7578TC[1] microsatellite Noonan syndrome and Noonan-related syndrome [RCV001813455]|Noonan-like syndrome [RCV000327907] Chr11:119307358..119307359 [GRCh38]
Chr11:119178068..119178069 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*7689C>G single nucleotide variant CBL-related disorder [RCV000350244] Chr11:119307470 [GRCh38]
Chr11:119178180 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*7761G>A single nucleotide variant CBL-related disorder [RCV000399245] Chr11:119307542 [GRCh38]
Chr11:119178252 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*4877G>A single nucleotide variant CBL-related disorder [RCV000329124] Chr11:119304658 [GRCh38]
Chr11:119175368 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*559_*560insCAA insertion Noonan-like syndrome [RCV000324954] Chr11:119300340..119300341 [GRCh38]
Chr11:119171050..119171051 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.3(CBL):c.-127_-125GGC[14] microsatellite Noonan-like syndrome [RCV000335228]|not provided [RCV001590924] Chr11:119206289..119206290 [GRCh38]
Chr11:119076999..119077000 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1384C>T (p.Arg462Ter) single nucleotide variant RASopathy [RCV002519043]|not provided [RCV000386480]|not specified [RCV001820803] Chr11:119278666 [GRCh38]
Chr11:119149376 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1651C>T (p.Pro551Ser) single nucleotide variant RASopathy [RCV001340823]|not provided [RCV000680317] Chr11:119285276 [GRCh38]
Chr11:119155986 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*4118A>G single nucleotide variant CBL-related disorder [RCV000351698] Chr11:119303899 [GRCh38]
Chr11:119174609 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*3241dup duplication Noonan-like syndrome [RCV000263494] Chr11:119303020..119303021 [GRCh38]
Chr11:119173730..119173731 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.*7173del deletion Noonan-like syndrome [RCV000263896] Chr11:119306942 [GRCh38]
Chr11:119177652 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.-79C>T single nucleotide variant CBL-related disorder [RCV000275392] Chr11:119206339 [GRCh38]
Chr11:119077049 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*1733T>G single nucleotide variant CBL-related disorder [RCV000309370] Chr11:119301514 [GRCh38]
Chr11:119172224 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.*3167G>A single nucleotide variant CBL-related disorder [RCV000353690] Chr11:119302948 [GRCh38]
Chr11:119173658 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.625C>G (p.Leu209Val) single nucleotide variant CBL-related disorder [RCV000379150]|Noonan syndrome and Noonan-related syndrome [RCV001813453]|RASopathy [RCV000476171] Chr11:119273902 [GRCh38]
Chr11:119144612 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala) single nucleotide variant CBL-related condition [RCV003897688]|CBL-related disorder [RCV000355691]|RASopathy [RCV000654950]|not provided [RCV003422231]|not specified [RCV001820887] Chr11:119285065 [GRCh38]
Chr11:119155775 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005188.3(CBL):c.-127_-125GGC[12] microsatellite Noonan syndrome and Noonan-related syndrome [RCV001813448]|Noonan-like syndrome [RCV000374493]|not provided [RCV001618524] Chr11:119206289..119206290 [GRCh38]
Chr11:119076999..119077000 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_005188.3(CBL):c.-113C>T single nucleotide variant CBL-related disorder [RCV000276731] Chr11:119206305 [GRCh38]
Chr11:119077015 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6767C>G single nucleotide variant CBL-related disorder [RCV000312164] Chr11:119306548 [GRCh38]
Chr11:119177258 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.*5885A>G single nucleotide variant CBL-related disorder [RCV000312556] Chr11:119305666 [GRCh38]
Chr11:119176376 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.*5008C>G single nucleotide variant CBL-related disorder [RCV000333364] Chr11:119304789 [GRCh38]
Chr11:119175499 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*1915T>C single nucleotide variant CBL-related disorder [RCV000333476] Chr11:119301696 [GRCh38]
Chr11:119172406 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.*4227C>T single nucleotide variant CBL-related disorder [RCV000357289] Chr11:119304008 [GRCh38]
Chr11:119174718 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*8017G>A single nucleotide variant CBL-related disorder [RCV000406197] Chr11:119307798 [GRCh38]
Chr11:119178508 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.3(CBL):c.-127_-125GGC[15] microsatellite Noonan-like syndrome [RCV000392319] Chr11:119206289..119206290 [GRCh38]
Chr11:119076999..119077000 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*4085C>G single nucleotide variant CBL-related disorder [RCV000407052] Chr11:119303866 [GRCh38]
Chr11:119174576 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg) single nucleotide variant Inborn genetic diseases [RCV002519045]|Noonan syndrome and Noonan-related syndrome [RCV001813442]|RASopathy [RCV001089369]|not provided [RCV000361702]|not specified [RCV001192739] Chr11:119287852 [GRCh38]
Chr11:119158562 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005188.4(CBL):c.1776C>T (p.Pro592=) single nucleotide variant CBL-related disorder [RCV000266876]|Cardiovascular phenotype [RCV003278754] Chr11:119285401 [GRCh38]
Chr11:119156111 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.*5986del deletion Noonan-like syndrome [RCV000277530] Chr11:119305759 [GRCh38]
Chr11:119176469 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.*365_*366insGG insertion Noonan-like syndrome [RCV000359684] Chr11:119300145..119300146 [GRCh38]
Chr11:119170855..119170856 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.*8058C>T single nucleotide variant CBL-related disorder [RCV000359885] Chr11:119307839 [GRCh38]
Chr11:119178549 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.*567G>A single nucleotide variant CBL-related disorder [RCV000384166]|not provided [RCV003422232] Chr11:119300348 [GRCh38]
Chr11:119171058 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_005188.4(CBL):c.*4029C>T single nucleotide variant CBL-related disorder [RCV000384230] Chr11:119303810 [GRCh38]
Chr11:119174520 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1629A>G (p.Pro543=) single nucleotide variant CBL-related condition [RCV003940144]|CBL-related disorder [RCV000315622]|Juvenile myelomonocytic leukemia [RCV003316468]|RASopathy [RCV000473383]|not provided [RCV001812788] Chr11:119285254 [GRCh38]
Chr11:119155964 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe) single nucleotide variant CBL-related condition [RCV003897689]|CBL-related disorder [RCV000338492]|Noonan syndrome and Noonan-related syndrome [RCV001813454]|RASopathy [RCV001469615]|not specified [RCV001420785] Chr11:119299629 [GRCh38]
Chr11:119170339 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*5632C>T single nucleotide variant CBL-related disorder [RCV000340104]|not provided [RCV003221898] Chr11:119305413 [GRCh38]
Chr11:119176123 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.*1918C>T single nucleotide variant CBL-related disorder [RCV000388040]|not provided [RCV003422235] Chr11:119301699 [GRCh38]
Chr11:119172409 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.*4818C>T single nucleotide variant CBL-related disorder [RCV000268184] Chr11:119304599 [GRCh38]
Chr11:119175309 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*3272T>C single nucleotide variant CBL-related disorder [RCV000318775] Chr11:119303053 [GRCh38]
Chr11:119173763 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*2423C>T single nucleotide variant CBL-related disorder [RCV000341767] Chr11:119302204 [GRCh38]
Chr11:119172914 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.1134C>A (p.Phe378Leu) single nucleotide variant not provided [RCV000520043] Chr11:119278204 [GRCh38]
Chr11:119148914 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2189C>T (p.Thr730Met) single nucleotide variant RASopathy [RCV000548583] Chr11:119297419 [GRCh38]
Chr11:119168129 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.747+73_747+74del deletion not provided [RCV001548093] Chr11:119274082..119274083 [GRCh38]
Chr11:119144792..119144793 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1324C>A (p.Leu442Met) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002491111]|RASopathy [RCV000532713] Chr11:119278606 [GRCh38]
Chr11:119149316 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2212C>G (p.Gln738Glu) single nucleotide variant RASopathy [RCV003655410]|not provided [RCV003223988] Chr11:119297442 [GRCh38]
Chr11:119168152 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*282C>G single nucleotide variant CBL-related disorder [RCV000302559] Chr11:119300063 [GRCh38]
Chr11:119170773 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6362G>A single nucleotide variant CBL-related disorder [RCV000380373] Chr11:119306143 [GRCh38]
Chr11:119176853 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1676G>T (p.Arg559Leu) single nucleotide variant B lymphoblastic leukemia lymphoma with hyperdiploidy [RCV000761157]|RASopathy [RCV001363136]|not specified [RCV000596726] Chr11:119285301 [GRCh38]
Chr11:119156011 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*1711T>C single nucleotide variant CBL-related disorder [RCV000362943] Chr11:119301492 [GRCh38]
Chr11:119172202 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*4390C>G single nucleotide variant CBL-related disorder [RCV000303728] Chr11:119304171 [GRCh38]
Chr11:119174881 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.3(CBL):c.-126_-125insTGG insertion Noonan syndrome and Noonan-related syndrome [RCV001813452]|Noonan-like syndrome [RCV000303771]|not provided [RCV001723888] Chr11:119206290..119206291 [GRCh38]
Chr11:119077000..119077001 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_005188.4(CBL):c.*1965G>A single nucleotide variant CBL-related disorder [RCV000315703] Chr11:119301746 [GRCh38]
Chr11:119172456 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*8288GTTA[1] microsatellite Noonan-like syndrome [RCV000363796] Chr11:119308068..119308071 [GRCh38]
Chr11:119178778..119178781 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.*4849A>C single nucleotide variant CBL-related disorder [RCV000363896] Chr11:119304630 [GRCh38]
Chr11:119175340 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.3(CBL):c.-122C>T single nucleotide variant CBL-related disorder [RCV000364363]|Juvenile myelomonocytic leukemia [RCV002487348] Chr11:119206296 [GRCh38]
Chr11:119077006 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.3(CBL):c.-126_-125insTGGCGG insertion Noonan-like syndrome [RCV000304904] Chr11:119206289..119206290 [GRCh38]
Chr11:119076999..119077000 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1227+10T>C single nucleotide variant CBL-related disorder [RCV000347851] Chr11:119278307 [GRCh38]
Chr11:119149017 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.-125_-116delinsT indel Juvenile myelomonocytic leukemia [RCV002487347]|Noonan-like syndrome [RCV000365475] Chr11:119206293..119206302 [GRCh38]
Chr11:119077003..119077012 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2052A>C (p.Pro684=) single nucleotide variant CBL-related condition [RCV003910107]|CBL-related disorder [RCV000384547]|Cardiovascular phenotype [RCV002418153]|RASopathy [RCV001454558]|not specified [RCV001375539] Chr11:119296933 [GRCh38]
Chr11:119167643 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.3(CBL):c.-127_-125GGC[8] microsatellite Noonan syndrome and Noonan-related syndrome [RCV001813451]|Noonan-like syndrome [RCV000402775]|not provided [RCV001690003] Chr11:119206290..119206298 [GRCh38]
Chr11:119077000..119077008 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_005188.4(CBL):c.*1661G>T single nucleotide variant CBL-related disorder [RCV000402875] Chr11:119301442 [GRCh38]
Chr11:119172152 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*4959C>T single nucleotide variant CBL-related disorder [RCV000294168] Chr11:119304740 [GRCh38]
Chr11:119175450 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1967G>A (p.Gly656Asp) single nucleotide variant CBL-related disorder [RCV000284244] Chr11:119287877 [GRCh38]
Chr11:119158587 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*5134G>A single nucleotide variant CBL-related disorder [RCV000334432] Chr11:119304915 [GRCh38]
Chr11:119175625 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*7904G>A single nucleotide variant CBL-related disorder [RCV000334489] Chr11:119307685 [GRCh38]
Chr11:119178395 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1296T>C (p.Asp432=) single nucleotide variant CBL-related condition [RCV003935559]|Cardiovascular phenotype [RCV002384267]|RASopathy [RCV000528960]|not provided [RCV003144379] Chr11:119278578 [GRCh38]
Chr11:119149288 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.*950G>T single nucleotide variant CBL-related disorder [RCV000295620] Chr11:119300731 [GRCh38]
Chr11:119171441 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*5771T>A single nucleotide variant Noonan-like syndrome [RCV000306792] Chr11:119305552 [GRCh38]
Chr11:119176262 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.3(CBL):c.-124G>T single nucleotide variant CBL-related disorder [RCV000307393] Chr11:119206294 [GRCh38]
Chr11:119077004 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*7170_*7173del deletion Noonan-like syndrome [RCV000321364] Chr11:119306942..119306945 [GRCh38]
Chr11:119177652..119177655 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*986A>C single nucleotide variant CBL-related disorder [RCV000336364] Chr11:119300767 [GRCh38]
Chr11:119171477 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*4140G>A single nucleotide variant CBL-related disorder [RCV000407045] Chr11:119303921 [GRCh38]
Chr11:119174631 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.3(CBL):c.-157A>G single nucleotide variant Noonan-like syndrome [RCV000363899] Chr11:119206261 [GRCh38]
Chr11:119076971 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.*1258G>A single nucleotide variant CBL-related disorder [RCV000337605] Chr11:119301039 [GRCh38]
Chr11:119171749 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*932A>G single nucleotide variant CBL-related disorder [RCV000389832] Chr11:119300713 [GRCh38]
Chr11:119171423 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6430G>C single nucleotide variant CBL-related disorder [RCV000286494] Chr11:119306211 [GRCh38]
Chr11:119176921 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*4177C>T single nucleotide variant CBL-related disorder [RCV000297742] Chr11:119303958 [GRCh38]
Chr11:119174668 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*4863dup duplication Noonan-like syndrome [RCV000323170] Chr11:119304630..119304631 [GRCh38]
Chr11:119175340..119175341 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6933C>A single nucleotide variant CBL-related disorder [RCV000371282] Chr11:119306714 [GRCh38]
Chr11:119177424 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2434+15dup duplication RASopathy [RCV003655145]|not specified [RCV000038359] Chr11:119298554..119298555 [GRCh38]
Chr11:119169264..119169265 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.*3106del deletion Noonan-like syndrome [RCV000390705] Chr11:119302886 [GRCh38]
Chr11:119173596 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*7081T>G single nucleotide variant CBL-related disorder [RCV000299135] Chr11:119306862 [GRCh38]
Chr11:119177572 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*8164_*8167del deletion Noonan-like syndrome [RCV000325380] Chr11:119307944..119307947 [GRCh38]
Chr11:119178654..119178657 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6265C>A single nucleotide variant CBL-related disorder [RCV000339771] Chr11:119306046 [GRCh38]
Chr11:119176756 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*2137C>T single nucleotide variant CBL-related disorder [RCV000340594] Chr11:119301918 [GRCh38]
Chr11:119172628 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6126T>A single nucleotide variant CBL-related disorder [RCV000374466] Chr11:119305907 [GRCh38]
Chr11:119176617 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*3714C>T single nucleotide variant CBL-related disorder [RCV000288749] Chr11:119303495 [GRCh38]
Chr11:119174205 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2414_2416dup (p.Leu805_Asp806insVal) duplication Noonan-like syndrome [RCV000300042]|RASopathy [RCV000472107]|not provided [RCV003128617] Chr11:119298519..119298520 [GRCh38]
Chr11:119169229..119169230 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*3026C>T single nucleotide variant CBL-related disorder [RCV000311594] Chr11:119302807 [GRCh38]
Chr11:119173517 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*5139C>T single nucleotide variant CBL-related disorder [RCV000374985] Chr11:119304920 [GRCh38]
Chr11:119175630 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*2762dup duplication Noonan-like syndrome [RCV000393761] Chr11:119302536..119302537 [GRCh38]
Chr11:119173246..119173247 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*2554G>C single nucleotide variant CBL-related disorder [RCV000393762] Chr11:119302335 [GRCh38]
Chr11:119173045 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.3(CBL):c.-126_-125insTGGCGGCGGCGGCGGCGG insertion Noonan syndrome and Noonan-related syndrome [RCV001813450]|Noonan-like syndrome [RCV000343387] Chr11:119206289..119206290 [GRCh38]
Chr11:119076999..119077000 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*3336A>G single nucleotide variant CBL-related disorder [RCV000359465] Chr11:119303117 [GRCh38]
Chr11:119173827 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*7167A>C single nucleotide variant CBL-related disorder [RCV000378293] Chr11:119306948 [GRCh38]
Chr11:119177658 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1622A>T (p.Asp541Val) single nucleotide variant RASopathy [RCV003655137]|not specified [RCV000592557] Chr11:119285247 [GRCh38]
Chr11:119155957 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1099_1101del (p.Gln367del) deletion CBL-related disorder [RCV000627092] Chr11:119278167..119278169 [GRCh38]
Chr11:119148877..119148879 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2614C>A (p.Gln872Lys) single nucleotide variant Cardiovascular phenotype [RCV003160065]|RASopathy [RCV001047665]|not provided [RCV001823150]|not specified [RCV000597829] Chr11:119299674 [GRCh38]
Chr11:119170384 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2678G>A (p.Arg893Gln) single nucleotide variant CBL-related disorder [RCV001103085]|RASopathy [RCV001303309]|not provided [RCV003222055]|not specified [RCV000593423] Chr11:119299738 [GRCh38]
Chr11:119170448 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1096-20T>C single nucleotide variant not provided [RCV000599512] Chr11:119278146 [GRCh38]
Chr11:119148856 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1850G>T (p.Arg617Leu) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002481275]|RASopathy [RCV000654918]|not specified [RCV000414250] Chr11:119285475 [GRCh38]
Chr11:119156185 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1942-17T>C single nucleotide variant RASopathy [RCV002568991]|not specified [RCV001553569] Chr11:119287835 [GRCh38]
Chr11:119158545 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1945A>G (p.Met649Val) single nucleotide variant CBL-related disorder [RCV000415487]|RASopathy [RCV000464992] Chr11:119287855 [GRCh38]
Chr11:119158565 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_005188.4(CBL):c.1299G>A (p.Pro433=) single nucleotide variant CBL-related condition [RCV003945337]|RASopathy [RCV000539414]|not provided [RCV001712529]|not specified [RCV001193410] Chr11:119278581 [GRCh38]
Chr11:119149291 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.2055A>G (p.Lys685=) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002497198]|RASopathy [RCV000538064] Chr11:119296936 [GRCh38]
Chr11:119167646 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.2338C>T (p.Pro780Ser) single nucleotide variant RASopathy [RCV000540794] Chr11:119298444 [GRCh38]
Chr11:119169154 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2677C>T (p.Arg893Trp) single nucleotide variant RASopathy [RCV001062525]|not specified [RCV000412750] Chr11:119299737 [GRCh38]
Chr11:119170447 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2504G>A (p.Arg835Gln) single nucleotide variant RASopathy [RCV001861422]|not specified [RCV000412957] Chr11:119299564 [GRCh38]
Chr11:119170274 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.665T>C (p.Met222Thr) single nucleotide variant RASopathy [RCV003654260]|not specified [RCV000413220] Chr11:119273942 [GRCh38]
Chr11:119144652 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2097G>A (p.Glu699=) single nucleotide variant CBL-related disorder [RCV000415477]|RASopathy [RCV001491383] Chr11:119296978 [GRCh38]
Chr11:119167688 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.405G>C (p.Glu135Asp) single nucleotide variant CBL-related disorder [RCV000415508] Chr11:119232657 [GRCh38]
Chr11:119103367 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1096-7A>G single nucleotide variant RASopathy [RCV001861416]|not provided [RCV000414074] Chr11:119278159 [GRCh38]
Chr11:119148869 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_005188.4(CBL):c.1941+17A>T single nucleotide variant RASopathy [RCV003766343]|not provided [RCV000441496] Chr11:119285583 [GRCh38]
Chr11:119156293 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.627A>G (p.Leu209=) single nucleotide variant RASopathy [RCV002063649]|not provided [RCV000442083] Chr11:119273904 [GRCh38]
Chr11:119144614 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2153+10C>T single nucleotide variant RASopathy [RCV002524824]|not provided [RCV000424521] Chr11:119297044 [GRCh38]
Chr11:119167754 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1443G>T (p.Pro481=) single nucleotide variant Cardiovascular phenotype [RCV002393048]|RASopathy [RCV001078739]|not provided [RCV000442364]|not specified [RCV001193459] Chr11:119284980 [GRCh38]
Chr11:119155690 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.1495C>A (p.Arg499=) single nucleotide variant Cardiovascular phenotype [RCV002393009]|RASopathy [RCV001452812]|not provided [RCV000428410] Chr11:119285032 [GRCh38]
Chr11:119155742 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1564-18T>C single nucleotide variant RASopathy [RCV001861532]|not provided [RCV000443746] Chr11:119285171 [GRCh38]
Chr11:119155881 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.195+3G>A single nucleotide variant Cardiovascular phenotype [RCV002418246]|Noonan syndrome and Noonan-related syndrome [RCV001813473]|RASopathy [RCV001222390]|not specified [RCV000436652] Chr11:119206615 [GRCh38]
Chr11:119077325 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002481302]|RASopathy [RCV001865325]|not provided [RCV000680314]|not specified [RCV000423118] Chr11:119285021 [GRCh38]
Chr11:119155731 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2533G>A (p.Gly845Ser) single nucleotide variant RASopathy [RCV001851478]|not provided [RCV000522715]|not specified [RCV003317252] Chr11:119299593 [GRCh38]
Chr11:119170303 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.873T>C (p.Tyr291=) single nucleotide variant Cardiovascular phenotype [RCV003168649]|Juvenile myelomonocytic leukemia [RCV003316549]|RASopathy [RCV001399183]|not provided [RCV000437466] Chr11:119276000 [GRCh38]
Chr11:119146710 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_005188.4(CBL):c.1771C>G (p.Leu591Val) single nucleotide variant RASopathy [RCV000459319]|not provided [RCV000786285] Chr11:119285396 [GRCh38]
Chr11:119156106 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1141T>C (p.Cys381Arg) single nucleotide variant RASopathy [RCV000470469]|not provided [RCV001567725] Chr11:119278211 [GRCh38]
Chr11:119148921 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|uncertain significance
NM_005188.4(CBL):c.525G>T (p.Gln175His) single nucleotide variant not provided [RCV000479915] Chr11:119271816 [GRCh38]
Chr11:119142526 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.895C>T (p.Arg299Cys) single nucleotide variant RASopathy [RCV000473617] Chr11:119276022 [GRCh38]
Chr11:119146732 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.120C>G (p.His40Gln) single nucleotide variant not provided [RCV000484221] Chr11:119206537 [GRCh38]
Chr11:119077247 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1074A>G (p.Gln358=) single nucleotide variant RASopathy [RCV000460268]|not specified [RCV001731686] Chr11:119277823 [GRCh38]
Chr11:119148533 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1290G>A (p.Val430=) single nucleotide variant RASopathy [RCV000475313] Chr11:119278572 [GRCh38]
Chr11:119149282 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1788C>G (p.Pro596=) single nucleotide variant Cardiovascular phenotype [RCV002402313]|RASopathy [RCV001490471] Chr11:119285413 [GRCh38]
Chr11:119156123 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1165A>G (p.Lys389Glu) single nucleotide variant CBL-related disorder [RCV001775119]|RASopathy [RCV000457434] Chr11:119278235 [GRCh38]
Chr11:119148945 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_005188.4(CBL):c.2691C>T (p.Ser897=) single nucleotide variant Cardiovascular phenotype [RCV002429575]|RASopathy [RCV002056719]|not specified [RCV001821314] Chr11:119299751 [GRCh38]
Chr11:119170461 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1793T>A (p.Val598Glu) single nucleotide variant RASopathy [RCV000458200] Chr11:119285418 [GRCh38]
Chr11:119156128 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.748-3T>C single nucleotide variant CBL-related condition [RCV003983077]|RASopathy [RCV000465812] Chr11:119274829 [GRCh38]
Chr11:119145539 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.870-19del deletion RASopathy [RCV002063690]|not provided [RCV003736788]|not specified [RCV000482768] Chr11:119275978 [GRCh38]
Chr11:119146688 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.2251+14_2251+22del deletion RASopathy [RCV002525870]|not provided [RCV000482924] Chr11:119297493..119297501 [GRCh38]
Chr11:119168203..119168211 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.107ACC[4] (p.His40_His42del) microsatellite RASopathy [RCV001851404]|not specified [RCV000502781] Chr11:119206523..119206531 [GRCh38]
Chr11:119077233..119077241 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2513G>T (p.Gly838Val) single nucleotide variant Cardiovascular phenotype [RCV002438216]|Juvenile myelomonocytic leukemia [RCV002506221]|Noonan syndrome and Noonan-related syndrome [RCV001813486]|RASopathy [RCV000529564]|not provided [RCV000761809]|not specified [RCV000500878] Chr11:119299573 [GRCh38]
Chr11:119170283 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_005188.4(CBL):c.2316T>G (p.Asp772Glu) single nucleotide variant CBL-related condition [RCV003915653]|CBL-related disorder [RCV001108285]|RASopathy [RCV000541862]|not provided [RCV001613382] Chr11:119298422 [GRCh38]
Chr11:119169132 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.2336C>T (p.Pro779Leu) single nucleotide variant Inborn genetic diseases [RCV003299092] Chr11:119298442 [GRCh38]
Chr11:119169152 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_005188.4(CBL):c.444-9C>T single nucleotide variant RASopathy [RCV000558503] Chr11:119271726 [GRCh38]
Chr11:119142436 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2070G>T (p.Glu690Asp) single nucleotide variant Cardiovascular phenotype [RCV003278440] Chr11:119296951 [GRCh38]
Chr11:119167661 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2072A>C (p.Gln691Pro) single nucleotide variant Cardiovascular phenotype [RCV003278441] Chr11:119296953 [GRCh38]
Chr11:119167663 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1693T>C (p.Leu565=) single nucleotide variant Cardiovascular phenotype [RCV003278442] Chr11:119285318 [GRCh38]
Chr11:119156028 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2017A>G (p.Ile673Val) single nucleotide variant RASopathy [RCV000534597] Chr11:119287927 [GRCh38]
Chr11:119158637 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.728T>C (p.Ile243Thr) single nucleotide variant RASopathy [RCV000557437] Chr11:119274005 [GRCh38]
Chr11:119144715 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.869+18A>G single nucleotide variant RASopathy [RCV002529644]|not specified [RCV000601461] Chr11:119274971 [GRCh38]
Chr11:119145681 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1703C>T (p.Thr568Ile) single nucleotide variant Cardiovascular phenotype [RCV003160064]|RASopathy [RCV003655138]|not specified [RCV000595298] Chr11:119285328 [GRCh38]
Chr11:119156038 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.59C>T (p.Ser20Leu) single nucleotide variant Inborn genetic diseases [RCV003279817]|RASopathy [RCV003539482] Chr11:119206476 [GRCh38]
Chr11:119077186 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1942-4C>T single nucleotide variant RASopathy [RCV002060370] Chr11:119287848 [GRCh38]
Chr11:119158558 [GRCh37]
Chr11:11q23.3		 likely pathogenic|likely benign
NM_005188.4(CBL):c.2223G>A (p.Ala741=) single nucleotide variant Cardiovascular phenotype [RCV002431819]|RASopathy [RCV000654995]|not specified [RCV000607970] Chr11:119297453 [GRCh38]
Chr11:119168163 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.869+15G>A single nucleotide variant CBL-related disorder [RCV001108181]|RASopathy [RCV002064161]|not provided [RCV001700167]|not specified [RCV000610569] Chr11:119274968 [GRCh38]
Chr11:119145678 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1765T>C (p.Ser589Pro) single nucleotide variant RASopathy [RCV000556828] Chr11:119285390 [GRCh38]
Chr11:119156100 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1512G>A (p.Pro504=) single nucleotide variant Cardiovascular phenotype [RCV003278942]|RASopathy [RCV002062131]|not specified [RCV000608315] Chr11:119285049 [GRCh38]
Chr11:119155759 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.896G>C (p.Arg299Pro) single nucleotide variant not provided [RCV003238965] Chr11:119276023 [GRCh38]
Chr11:119146733 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.60G>T (p.Ser20=) single nucleotide variant Cardiovascular phenotype [RCV002358721]|RASopathy [RCV001418740]|not specified [RCV000611312] Chr11:119206477 [GRCh38]
Chr11:119077187 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1795C>A (p.Pro599Thr) single nucleotide variant RASopathy [RCV000535435] Chr11:119285420 [GRCh38]
Chr11:119156130 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1552A>G (p.Thr518Ala) single nucleotide variant CBL-related disorder [RCV002254706]|RASopathy [RCV000654919] Chr11:119285089 [GRCh38]
Chr11:119155799 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.66G>A (p.Ser22=) single nucleotide variant RASopathy [RCV000654922] Chr11:119206483 [GRCh38]
Chr11:119077193 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.248A>G (p.Tyr83Cys) single nucleotide variant RASopathy [RCV000654925] Chr11:119232500 [GRCh38]
Chr11:119103210 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.43_44delinsCC (p.Ser15Pro) indel RASopathy [RCV000654928] Chr11:119206460..119206461 [GRCh38]
Chr11:119077170..119077171 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1694T>C (p.Leu565Ser) single nucleotide variant RASopathy [RCV000654931] Chr11:119285319 [GRCh38]
Chr11:119156029 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.269A>G (p.Asp90Gly) single nucleotide variant RASopathy [RCV000654935] Chr11:119232521 [GRCh38]
Chr11:119103231 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.23G>A (p.Ser8Asn) single nucleotide variant Cardiovascular phenotype [RCV002442370]|RASopathy [RCV000654938] Chr11:119206440 [GRCh38]
Chr11:119077150 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002499129]|Noonan syndrome and Noonan-related syndrome [RCV001813540]|RASopathy [RCV000654940]|not provided [RCV003144456]|not specified [RCV001290632] Chr11:119297034 [GRCh38]
Chr11:119167744 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1564-3C>T single nucleotide variant RASopathy [RCV000654949] Chr11:119285186 [GRCh38]
Chr11:119155896 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.127_129dup (p.Leu43dup) duplication RASopathy [RCV000654952] Chr11:119206542..119206543 [GRCh38]
Chr11:119077252..119077253 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1753C>T (p.Arg585Cys) single nucleotide variant CBL-related disorder [RCV003325210]|Noonan syndrome and Noonan-related syndrome [RCV001813541]|RASopathy [RCV000654963]|not provided [RCV003144457]|not specified [RCV001816651] Chr11:119285378 [GRCh38]
Chr11:119156088 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1277C>T (p.Thr426Ile) single nucleotide variant CBL-related condition [RCV003411556]|RASopathy [RCV000654967] Chr11:119278559 [GRCh38]
Chr11:119149269 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.80G>T (p.Gly27Val) single nucleotide variant RASopathy [RCV000654969] Chr11:119206497 [GRCh38]
Chr11:119077207 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.419T>G (p.Met140Arg) single nucleotide variant RASopathy [RCV000654971] Chr11:119232671 [GRCh38]
Chr11:119103381 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2537C>T (p.Pro846Leu) single nucleotide variant RASopathy [RCV000654974] Chr11:119299597 [GRCh38]
Chr11:119170307 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2390G>C (p.Ser797Thr) single nucleotide variant RASopathy [RCV000654975] Chr11:119298496 [GRCh38]
Chr11:119169206 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.591-8C>G single nucleotide variant RASopathy [RCV000654986] Chr11:119273860 [GRCh38]
Chr11:119144570 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1566T>C (p.Ala522=) single nucleotide variant Cardiovascular phenotype [RCV002397329]|RASopathy [RCV002060779]|not provided [RCV003736870]|not specified [RCV003387901] Chr11:119285191 [GRCh38]
Chr11:119155901 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1920G>A (p.Thr640=) single nucleotide variant CBL-related disorder [RCV001001630]|Cardiovascular phenotype [RCV002406490]|RASopathy [RCV001458185]|not specified [RCV003987648] Chr11:119285545 [GRCh38]
Chr11:119156255 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.768G>A (p.Arg256=) single nucleotide variant RASopathy [RCV000655009] Chr11:119274852 [GRCh38]
Chr11:119145562 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.120C>T (p.His40=) single nucleotide variant Cardiovascular phenotype [RCV002358899]|RASopathy [RCV000655006] Chr11:119206537 [GRCh38]
Chr11:119077247 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1758T>C (p.Leu586=) single nucleotide variant Cardiovascular phenotype [RCV003278435]|RASopathy [RCV003655417] Chr11:119285383 [GRCh38]
Chr11:119156093 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2226A>G (p.Pro742=) single nucleotide variant Cardiovascular phenotype [RCV003278436] Chr11:119297456 [GRCh38]
Chr11:119168166 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.136C>A (p.His46Asn) single nucleotide variant Cardiovascular phenotype [RCV003278437] Chr11:119206553 [GRCh38]
Chr11:119077263 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1371T>C (p.Asp457=) single nucleotide variant Cardiovascular phenotype [RCV003311176] Chr11:119278653 [GRCh38]
Chr11:119149363 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup) microsatellite CBL-related condition [RCV003945336]|RASopathy [RCV000540192]|not provided [RCV001529039]|not specified [RCV001255559] Chr11:119206522..119206523 [GRCh38]
Chr11:119077232..119077233 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005188.4(CBL):c.2209A>G (p.Ile737Val) single nucleotide variant Cardiovascular phenotype [RCV003311173] Chr11:119297439 [GRCh38]
Chr11:119168149 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_005188.4(CBL):c.1288G>A (p.Val430Met) single nucleotide variant RASopathy [RCV000684954]|not specified [RCV002271566] Chr11:119278570 [GRCh38]
Chr11:119149280 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.591-176A>G single nucleotide variant not provided [RCV000680797] Chr11:119273692 [GRCh38]
Chr11:119144402 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.747+79A>G single nucleotide variant not provided [RCV000680719] Chr11:119274103 [GRCh38]
Chr11:119144813 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.2251+179G>A single nucleotide variant not provided [RCV000680798] Chr11:119297660 [GRCh38]
Chr11:119168370 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.2154-130A>T single nucleotide variant not provided [RCV000680902] Chr11:119297254 [GRCh38]
Chr11:119167964 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2252-152T>C single nucleotide variant not provided [RCV000680963] Chr11:119298206 [GRCh38]
Chr11:119168916 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.2251+126G>A single nucleotide variant not provided [RCV000680962] Chr11:119297607 [GRCh38]
Chr11:119168317 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.748-142G>A single nucleotide variant not provided [RCV000681016] Chr11:119274690 [GRCh38]
Chr11:119145400 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1735C>T (p.Pro579Ser) single nucleotide variant RASopathy [RCV001233300]|not provided [RCV000681049] Chr11:119285360 [GRCh38]
Chr11:119156070 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2090A>C (p.Asp697Ala) single nucleotide variant not provided [RCV000681179] Chr11:119296971 [GRCh38]
Chr11:119167681 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2222C>T (p.Ala741Val) single nucleotide variant RASopathy [RCV000706542]|not provided [RCV000681187] Chr11:119297452 [GRCh38]
Chr11:119168162 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.748-268A>G single nucleotide variant not provided [RCV000681263] Chr11:119274564 [GRCh38]
Chr11:119145274 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.2252-8T>C single nucleotide variant CBL-related condition [RCV003965433]|RASopathy [RCV001515926]|not provided [RCV000681217]|not specified [RCV001193409] Chr11:119298350 [GRCh38]
Chr11:119169060 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.192C>G (p.Asp64Glu) single nucleotide variant CBL-related condition [RCV003403576]|RASopathy [RCV001244804]|not provided [RCV000681352] Chr11:119206609 [GRCh38]
Chr11:119077319 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.444-282G>A single nucleotide variant not provided [RCV000681399] Chr11:119271453 [GRCh38]
Chr11:119142163 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.869+258C>A single nucleotide variant not provided [RCV000681400] Chr11:119275211 [GRCh38]
Chr11:119145921 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_005188.4(CBL):c.2251+50G>C single nucleotide variant not provided [RCV000680701] Chr11:119297531 [GRCh38]
Chr11:119168241 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.1558T>C (p.Ser520Pro) single nucleotide variant RASopathy [RCV001861884]|not provided [RCV000680637] Chr11:119285095 [GRCh38]
Chr11:119155805 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_005188.4(CBL):c.1942-89T>A single nucleotide variant not provided [RCV000680757] Chr11:119287763 [GRCh38]
Chr11:119158473 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1169A>T (p.Asp390Val) single nucleotide variant CBL-related disorder [RCV001027992]|Hepatosplenomegaly [RCV002286418]|RASopathy [RCV001868303]|not provided [RCV000680806] Chr11:119278239 [GRCh38]
Chr11:119148949 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_005188.4(CBL):c.446G>A (p.Arg149Gln) single nucleotide variant RASopathy [RCV000698213] Chr11:119271737 [GRCh38]
Chr11:119142447 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1676G>A (p.Arg559Gln) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002499213]|RASopathy [RCV000684950] Chr11:119285301 [GRCh38]
Chr11:119156011 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.40G>A (p.Gly14Ser) single nucleotide variant RASopathy [RCV000686788] Chr11:119206457 [GRCh38]
Chr11:119077167 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2458C>G (p.Pro820Ala) single nucleotide variant RASopathy [RCV000700970] Chr11:119299518 [GRCh38]
Chr11:119170228 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1847A>C (p.Asn616Thr) single nucleotide variant Cardiovascular phenotype [RCV002406560]|RASopathy [RCV000691788] Chr11:119285472 [GRCh38]
Chr11:119156182 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2461G>A (p.Glu821Lys) single nucleotide variant RASopathy [RCV000701113] Chr11:119299521 [GRCh38]
Chr11:119170231 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.498A>C (p.Lys166Asn) single nucleotide variant RASopathy [RCV000687307]|not provided [RCV001766469] Chr11:119271789 [GRCh38]
Chr11:119142499 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1167G>T (p.Lys389Asn) single nucleotide variant RASopathy [RCV000689730] Chr11:119278237 [GRCh38]
Chr11:119148947 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1850G>A (p.Arg617Gln) single nucleotide variant CBL-related disorder [RCV003389059]|RASopathy [RCV000703955] Chr11:119285475 [GRCh38]
Chr11:119156185 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.227C>T (p.Ala76Val) single nucleotide variant RASopathy [RCV000704002] Chr11:119232479 [GRCh38]
Chr11:119103189 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1394A>T (p.Asp465Val) single nucleotide variant CBL-related condition [RCV003424289]|Cardiovascular phenotype [RCV002388262]|RASopathy [RCV000695338] Chr11:119278676 [GRCh38]
Chr11:119149386 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1365TGA[5] (p.Asp460del) microsatellite CBL-related disorder [RCV001199321]|RASopathy [RCV000691279] Chr11:119278646..119278648 [GRCh38]
Chr11:119149356..119149358 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.328G>A (p.Gly110Arg) single nucleotide variant RASopathy [RCV000691445] Chr11:119232580 [GRCh38]
Chr11:119103290 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1432-10T>C single nucleotide variant RASopathy [RCV000691552] Chr11:119284959 [GRCh38]
Chr11:119155669 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1460T>C (p.Met487Thr) single nucleotide variant RASopathy [RCV000691587] Chr11:119284997 [GRCh38]
Chr11:119155707 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1364A>G (p.Tyr455Cys) single nucleotide variant RASopathy [RCV000692032] Chr11:119278646 [GRCh38]
Chr11:119149356 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25		 likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_005188.4(CBL):c.1227+26T>C single nucleotide variant not provided [RCV001707122] Chr11:119278323 [GRCh38]
Chr11:119149033 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.126C>T (p.His42=) single nucleotide variant RASopathy [RCV001495218] Chr11:119206543 [GRCh38]
Chr11:119077253 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.869+44dup duplication not provided [RCV001644219]|not specified [RCV003323911] Chr11:119274995..119274996 [GRCh38]
Chr11:119145705..119145706 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.590+222C>G single nucleotide variant not provided [RCV001541644] Chr11:119272103 [GRCh38]
Chr11:119142813 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.1228-20_1228-17del deletion RASopathy [RCV002069493]|not specified [RCV001280584] Chr11:119278488..119278491 [GRCh38]
Chr11:119149198..119149201 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.-26G>C single nucleotide variant not provided [RCV001667489] Chr11:119206392 [GRCh38]
Chr11:119077102 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.870-48G>C single nucleotide variant CBL-related disorder [RCV001554835]|not provided [RCV001682720] Chr11:119275949 [GRCh38]
Chr11:119146659 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.2107C>G (p.Pro703Ala) single nucleotide variant not provided [RCV001597544]|not specified [RCV002271664] Chr11:119296988 [GRCh38]
Chr11:119167698 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_005188.4(CBL):c.2073A>G (p.Gln691=) single nucleotide variant RASopathy [RCV001401867]|not provided [RCV000875403]|not specified [RCV001817031] Chr11:119296954 [GRCh38]
Chr11:119167664 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del) microsatellite Juvenile myelomonocytic leukemia [RCV002505574]|RASopathy [RCV001044530]|Stroke disorder [RCV002287461]|not specified [RCV003331031] Chr11:119298497..119298499 [GRCh38]
Chr11:119169207..119169209 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1218A>C (p.Thr406=) single nucleotide variant RASopathy [RCV001415807] Chr11:119278288 [GRCh38]
Chr11:119148998 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1140A>G (p.Leu380=) single nucleotide variant Cardiovascular phenotype [RCV002453998]|RASopathy [RCV000869840] Chr11:119278210 [GRCh38]
Chr11:119148920 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1432-6C>T single nucleotide variant RASopathy [RCV000865104]|not specified [RCV001375586] Chr11:119284963 [GRCh38]
Chr11:119155673 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.2037-9A>C single nucleotide variant not provided [RCV000915036] Chr11:119296909 [GRCh38]
Chr11:119167619 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.819G>A (p.Thr273=) single nucleotide variant Cardiovascular phenotype [RCV002427141]|Noonan syndrome and Noonan-related syndrome [RCV001813555]|RASopathy [RCV002064551] Chr11:119274903 [GRCh38]
Chr11:119145613 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1614A>G (p.Thr538=) single nucleotide variant CBL-related condition [RCV003983280]|Cardiovascular phenotype [RCV002400037]|RASopathy [RCV000927909] Chr11:119285239 [GRCh38]
Chr11:119155949 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1228-10T>G single nucleotide variant RASopathy [RCV001055321] Chr11:119278500 [GRCh38]
Chr11:119149210 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1537G>A (p.Ala513Thr) single nucleotide variant RASopathy [RCV001052141] Chr11:119285074 [GRCh38]
Chr11:119155784 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2652C>T (p.Asn884=) single nucleotide variant Cardiovascular phenotype [RCV002453908]|RASopathy [RCV001492554]|not specified [RCV000825716] Chr11:119299712 [GRCh38]
Chr11:119170422 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV000816632] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2268C>T (p.Ala756=) single nucleotide variant CBL-related condition [RCV003955592]|Cardiovascular phenotype [RCV002442797]|RASopathy [RCV000862885]|not specified [RCV001532908] Chr11:119298374 [GRCh38]
Chr11:119169084 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1218A>G (p.Thr406=) single nucleotide variant RASopathy [RCV000871895] Chr11:119278288 [GRCh38]
Chr11:119148998 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1209C>T (p.Ser403=) single nucleotide variant Cardiovascular phenotype [RCV003169109]|RASopathy [RCV001400057] Chr11:119278279 [GRCh38]
Chr11:119148989 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.747+10_747+11insTTAT insertion Noonan syndrome and Noonan-related syndrome [RCV001813556]|RASopathy [RCV001474984] Chr11:119274033..119274034 [GRCh38]
Chr11:119144743..119144744 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.2349C>T (p.Ala783=) single nucleotide variant Cardiovascular phenotype [RCV002442828]|Juvenile myelomonocytic leukemia [RCV002495265]|RASopathy [RCV000866775]|not specified [RCV001193408] Chr11:119298455 [GRCh38]
Chr11:119169165 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.591-9C>G single nucleotide variant RASopathy [RCV000862760] Chr11:119273859 [GRCh38]
Chr11:119144569 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1393G>T (p.Asp465Tyr) single nucleotide variant Cardiovascular phenotype [RCV003311174] Chr11:119278675 [GRCh38]
Chr11:119149385 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.266C>G (p.Pro89Arg) single nucleotide variant Cardiovascular phenotype [RCV003311175] Chr11:119232518 [GRCh38]
Chr11:119103228 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1356C>T (p.Ser452=) single nucleotide variant Cardiovascular phenotype [RCV002381985]|RASopathy [RCV000871765]|not specified [RCV001817010] Chr11:119278638 [GRCh38]
Chr11:119149348 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1043A>G (p.Asp348Gly) single nucleotide variant RASopathy [RCV000805362] Chr11:119277792 [GRCh38]
Chr11:119148502 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_118967698)_(119170501_?)del deletion DPAGT1-congenital disorder of glycosylation [RCV001389247]|RASopathy [RCV000807927] Chr11:118967698..119170501 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance|no classifications from unflagged records
NM_005188.4(CBL):c.2466G>A (p.Arg822=) single nucleotide variant RASopathy [RCV002064636] Chr11:119299526 [GRCh38]
Chr11:119170236 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.1319G>T (p.Gly440Val) single nucleotide variant RASopathy [RCV000807011] Chr11:119278601 [GRCh38]
Chr11:119149311 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_005188.4(CBL):c.1790A>G (p.Lys597Arg) single nucleotide variant RASopathy [RCV000807269] Chr11:119285415 [GRCh38]
Chr11:119156125 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2614C>G (p.Gln872Glu) single nucleotide variant RASopathy [RCV000801194]|not provided [RCV003144618] Chr11:119299674 [GRCh38]
Chr11:119170384 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1156G>A (p.Glu386Lys) single nucleotide variant RASopathy [RCV000804804] Chr11:119278226 [GRCh38]
Chr11:119148936 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_005188.4(CBL):c.108C>G (p.His36Gln) single nucleotide variant RASopathy [RCV000821477] Chr11:119206525 [GRCh38]
Chr11:119077235 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1263T>G (p.Cys421Trp) single nucleotide variant RASopathy [RCV000822129] Chr11:119278545 [GRCh38]
Chr11:119149255 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.747+3A>G single nucleotide variant RASopathy [RCV000805815]|not specified [RCV003330960] Chr11:119274027 [GRCh38]
Chr11:119144737 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002487751]|RASopathy [RCV000809966]|not specified [RCV001420768] Chr11:119299580 [GRCh38]
Chr11:119170290 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1137A>G (p.Gln379=) single nucleotide variant RASopathy [RCV000796226] Chr11:119278207 [GRCh38]
Chr11:119148917 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.2451C>T (p.Ser817=) single nucleotide variant RASopathy [RCV003655311]|not specified [RCV001816925] Chr11:119299511 [GRCh38]
Chr11:119170221 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1346del (p.Gly449fs) deletion RASopathy [RCV000799853] Chr11:119278626 [GRCh38]
Chr11:119149336 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe) single nucleotide variant CBL-related disorder [RCV003147554]|Juvenile myelomonocytic leukemia [RCV003147553]|RASopathy [RCV000803552] Chr11:119278272 [GRCh38]
Chr11:119148982 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1957C>T (p.Pro653Ser) single nucleotide variant RASopathy [RCV000803561] Chr11:119287867 [GRCh38]
Chr11:119158577 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1088T>G (p.Val363Gly) single nucleotide variant RASopathy [RCV000800462] Chr11:119277837 [GRCh38]
Chr11:119148547 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.509C>T (p.Pro170Leu) single nucleotide variant CBL-related disorder [RCV003315138] Chr11:119271800 [GRCh38]
Chr11:119142510 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2394C>T (p.Ser798=) single nucleotide variant CBL-related condition [RCV003948184]|Cardiovascular phenotype [RCV002454017]|RASopathy [RCV000872256] Chr11:119298500 [GRCh38]
Chr11:119169210 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.357G>A (p.Met119Ile) single nucleotide variant RASopathy [RCV001873216]|not provided [RCV000788321]|not specified [RCV001844236] Chr11:119232609 [GRCh38]
Chr11:119103319 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2185T>C (p.Cys729Arg) single nucleotide variant not specified [RCV001195481] Chr11:119297415 [GRCh38]
Chr11:119168125 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1096-2A>T single nucleotide variant CBL-related disorder [RCV000850538] Chr11:119278164 [GRCh38]
Chr11:119148874 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_005188.4(CBL):c.1648C>T (p.Arg550Trp) single nucleotide variant CBL-related condition [RCV003396790]|RASopathy [RCV001313760]|not specified [RCV001175555] Chr11:119285273 [GRCh38]
Chr11:119155983 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.869+212G>A single nucleotide variant not provided [RCV001544680] Chr11:119275165 [GRCh38]
Chr11:119145875 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.347G>T (p.Arg116Met) single nucleotide variant not provided [RCV001760159]|not specified [RCV001199951] Chr11:119232599 [GRCh38]
Chr11:119103309 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1619G>A (p.Arg540Gln) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002491702]|RASopathy [RCV001223139] Chr11:119285244 [GRCh38]
Chr11:119155954 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2516G>C (p.Ser839Thr) single nucleotide variant Cardiovascular phenotype [RCV002430022]|RASopathy [RCV001239431] Chr11:119299576 [GRCh38]
Chr11:119170286 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.2413C>G (p.Leu805Val) single nucleotide variant RASopathy [RCV001209212] Chr11:119298519 [GRCh38]
Chr11:119169229 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1112A>T (p.Tyr371Phe) single nucleotide variant RASopathy [RCV001221210] Chr11:119278182 [GRCh38]
Chr11:119148892 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_005188.4(CBL):c.2519G>A (p.Cys840Tyr) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002504248]|RASopathy [RCV001209581] Chr11:119299579 [GRCh38]
Chr11:119170289 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2444A>C (p.Glu815Ala) single nucleotide variant CBL-related disorder [RCV001196736] Chr11:119299504 [GRCh38]
Chr11:119170214 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.892A>C (p.Thr298Pro) single nucleotide variant RASopathy [RCV001228865] Chr11:119276019 [GRCh38]
Chr11:119146729 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1606C>T (p.Pro536Ser) single nucleotide variant not provided [RCV003313550] Chr11:119285231 [GRCh38]
Chr11:119155941 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*7659C>T single nucleotide variant CBL-related disorder [RCV001103536] Chr11:119307440 [GRCh38]
Chr11:119178150 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*7030T>G single nucleotide variant CBL-related disorder [RCV001106517] Chr11:119306811 [GRCh38]
Chr11:119177521 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2282_2362dup (p.Arg787_Arg788insHisThrGlyProGluGluSerGluAsnGluAspAspGlyTyrAspValProLysProProValProAlaValLeuAlaArg) duplication not specified [RCV001174978] Chr11:119298387..119298388 [GRCh38]
Chr11:119169097..119169098 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*3031A>C single nucleotide variant CBL-related disorder [RCV001108464] Chr11:119302812 [GRCh38]
Chr11:119173522 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*3153C>T single nucleotide variant CBL-related disorder [RCV001108465] Chr11:119302934 [GRCh38]
Chr11:119173644 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*4755A>C single nucleotide variant CBL-related disorder [RCV001108550] Chr11:119304536 [GRCh38]
Chr11:119175246 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1353C>T (p.Pro451=) single nucleotide variant CBL-related condition [RCV003963045]|CBL-related disorder [RCV001102983]|Juvenile myelomonocytic leukemia [RCV002497510]|RASopathy [RCV003539386] Chr11:119278635 [GRCh38]
Chr11:119149345 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.3(CBL):c.-83C>T single nucleotide variant CBL-related disorder [RCV001105949] Chr11:119206335 [GRCh38]
Chr11:119077045 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*1712A>G single nucleotide variant CBL-related disorder [RCV001103198] Chr11:119301493 [GRCh38]
Chr11:119172203 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*3950T>C single nucleotide variant CBL-related disorder [RCV001103283] Chr11:119303731 [GRCh38]
Chr11:119174441 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*5944C>T single nucleotide variant CBL-related disorder [RCV001106420] Chr11:119305725 [GRCh38]
Chr11:119176435 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.10:g.119206253C>T single nucleotide variant not provided [RCV001580885] Chr11:119206253 [GRCh38]
Chr11:119076963 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.825C>T (p.Asp275=) single nucleotide variant Cardiovascular phenotype [RCV002425015]|RASopathy [RCV002072915]|not provided [RCV001610112] Chr11:119274909 [GRCh38]
Chr11:119145619 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.444-6862G>A single nucleotide variant CBL-related disorder [RCV001542334] Chr11:119264873 [GRCh38]
Chr11:119135583 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1007+240_1007+243del microsatellite not provided [RCV001659086] Chr11:119276369..119276372 [GRCh38]
Chr11:119147079..119147082 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.747+143del deletion not provided [RCV001589775] Chr11:119274160 [GRCh38]
Chr11:119144870 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1432-30G>C single nucleotide variant not provided [RCV001674412] Chr11:119284939 [GRCh38]
Chr11:119155649 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.1523G>C (p.Cys508Ser) single nucleotide variant RASopathy [RCV001889271] Chr11:119285060 [GRCh38]
Chr11:119155770 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1697C>G (p.Pro566Arg) single nucleotide variant Cardiovascular phenotype [RCV002405245]|RASopathy [RCV001882644]|not provided [RCV001558114] Chr11:119285322 [GRCh38]
Chr11:119156032 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.444-73G>T single nucleotide variant not provided [RCV001574652] Chr11:119271662 [GRCh38]
Chr11:119142372 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.805A>G (p.Met269Val) single nucleotide variant CBL-related disorder [RCV002222191]|Left ventricular noncompaction cardiomyopathy [RCV000853162]|RASopathy [RCV001869302] Chr11:119274889 [GRCh38]
Chr11:119145599 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.954C>T (p.Ile318=) single nucleotide variant RASopathy [RCV001409563] Chr11:119276081 [GRCh38]
Chr11:119146791 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1564-13_1564-3del deletion RASopathy [RCV000875820] Chr11:119285173..119285183 [GRCh38]
Chr11:119155883..119155893 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2259G>C (p.Gly753=) single nucleotide variant RASopathy [RCV001502377] Chr11:119298365 [GRCh38]
Chr11:119169075 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1959A>G (p.Pro653=) single nucleotide variant CBL-related condition [RCV003895745]|Cardiovascular phenotype [RCV002416219]|RASopathy [RCV000946021] Chr11:119287869 [GRCh38]
Chr11:119158579 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.246T>G (p.Pro82=) single nucleotide variant CBL-related condition [RCV003943054]|RASopathy [RCV001506235] Chr11:119232498 [GRCh38]
Chr11:119103208 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.461T>C (p.Leu154Pro) single nucleotide variant CBL-related disorder [RCV001198819] Chr11:119271752 [GRCh38]
Chr11:119142462 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.-5A>G single nucleotide variant CBL-related condition [RCV003938551]|not provided [RCV001619898]|not specified [RCV001193460] Chr11:119206413 [GRCh38]
Chr11:119077123 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005188.4(CBL):c.1795C>G (p.Pro599Ala) single nucleotide variant CBL-related disorder [RCV001106054]|RASopathy [RCV001856425] Chr11:119285420 [GRCh38]
Chr11:119156130 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.680C>G (p.Thr227Ser) single nucleotide variant CBL-related disorder [RCV001199018] Chr11:119273957 [GRCh38]
Chr11:119144667 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1961TAG[1] (p.Val655del) microsatellite not provided [RCV001665196] Chr11:119287871..119287873 [GRCh38]
Chr11:119158581..119158583 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*4542C>T single nucleotide variant CBL-related disorder [RCV001106328] Chr11:119304323 [GRCh38]
Chr11:119175033 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*5953C>G single nucleotide variant CBL-related disorder [RCV001106421] Chr11:119305734 [GRCh38]
Chr11:119176444 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*8318C>T single nucleotide variant CBL-related disorder [RCV001106624] Chr11:119308099 [GRCh38]
Chr11:119178809 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1862C>T (p.Pro621Leu) single nucleotide variant RASopathy [RCV001036064] Chr11:119285487 [GRCh38]
Chr11:119156197 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.747G>A (p.Gln249=) single nucleotide variant RASopathy [RCV001216709] Chr11:119274024 [GRCh38]
Chr11:119144734 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*7601G>A single nucleotide variant CBL-related disorder [RCV001108702] Chr11:119307382 [GRCh38]
Chr11:119178092 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6532A>G single nucleotide variant CBL-related disorder [RCV001103456] Chr11:119306313 [GRCh38]
Chr11:119177023 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*7855C>T single nucleotide variant CBL-related disorder [RCV001103538] Chr11:119307636 [GRCh38]
Chr11:119178346 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1986C>G (p.Pro662=) single nucleotide variant not specified [RCV001192697] Chr11:119287896 [GRCh38]
Chr11:119158606 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1538C>T (p.Ala513Val) single nucleotide variant RASopathy [RCV001873658]|not specified [RCV001174990] Chr11:119285075 [GRCh38]
Chr11:119155785 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.578C>T (p.Ala193Val) single nucleotide variant RASopathy [RCV001238133] Chr11:119271869 [GRCh38]
Chr11:119142579 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*5618G>A single nucleotide variant CBL-related disorder [RCV001105293] Chr11:119305399 [GRCh38]
Chr11:119176109 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*5637A>C single nucleotide variant CBL-related disorder [RCV001105294] Chr11:119305418 [GRCh38]
Chr11:119176128 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6729C>T single nucleotide variant CBL-related disorder [RCV001105375] Chr11:119306510 [GRCh38]
Chr11:119177220 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.184C>T (p.Leu62Phe) single nucleotide variant RASopathy [RCV001070539] Chr11:119206601 [GRCh38]
Chr11:119077311 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1732dup (p.Leu578fs) duplication RASopathy [RCV001238477] Chr11:119285356..119285357 [GRCh38]
Chr11:119156066..119156067 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.196-6T>C single nucleotide variant RASopathy [RCV002857917] Chr11:119232442 [GRCh38]
Chr11:119103152 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1804G>T (p.Ala602Ser) single nucleotide variant RASopathy [RCV002549882]|not provided [RCV000994740] Chr11:119285429 [GRCh38]
Chr11:119156139 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.590+20A>T single nucleotide variant not specified [RCV002470065] Chr11:119271901 [GRCh38]
Chr11:119142611 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2086G>C (p.Glu696Gln) single nucleotide variant Global developmental delay [RCV001263314] Chr11:119296967 [GRCh38]
Chr11:119167677 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3 copy number gain not provided [RCV001006451] Chr11:118280670..119650105 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.10:g.119206302C>T single nucleotide variant not provided [RCV001580792] Chr11:119206302 [GRCh38]
Chr11:119077012 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1432-61G>T single nucleotide variant not provided [RCV001621819] Chr11:119284908 [GRCh38]
Chr11:119155618 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.195+76G>C single nucleotide variant not provided [RCV001718531] Chr11:119206688 [GRCh38]
Chr11:119077398 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.*3622T>C single nucleotide variant CBL-related disorder [RCV001103282] Chr11:119303403 [GRCh38]
Chr11:119174113 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*7878C>T single nucleotide variant CBL-related disorder [RCV001103539] Chr11:119307659 [GRCh38]
Chr11:119178369 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*3978G>C single nucleotide variant CBL-related disorder [RCV001103284] Chr11:119303759 [GRCh38]
Chr11:119174469 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1498C>T (p.Leu500Phe) single nucleotide variant Inborn genetic diseases [RCV002551714]|Microcephaly [RCV001252854] Chr11:119285035 [GRCh38]
Chr11:119155745 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1497A>G (p.Arg499=) single nucleotide variant CBL-related disorder [RCV001104889] Chr11:119285034 [GRCh38]
Chr11:119155744 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1692C>T (p.Pro564=) single nucleotide variant CBL-related disorder [RCV001104891] Chr11:119285317 [GRCh38]
Chr11:119156027 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*337A>C single nucleotide variant CBL-related disorder [RCV001104995] Chr11:119300118 [GRCh38]
Chr11:119170828 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.*2105T>C single nucleotide variant CBL-related disorder [RCV001105112] Chr11:119301886 [GRCh38]
Chr11:119172596 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*7924C>A single nucleotide variant CBL-related disorder [RCV001105469] Chr11:119307705 [GRCh38]
Chr11:119178415 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.296T>C (p.Leu99Ser) single nucleotide variant CBL-related disorder [RCV001105950] Chr11:119232548 [GRCh38]
Chr11:119103258 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.367A>T (p.Met123Leu) single nucleotide variant CBL-related disorder [RCV001105951] Chr11:119232619 [GRCh38]
Chr11:119103329 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*1059G>A single nucleotide variant CBL-related disorder [RCV001106155] Chr11:119300840 [GRCh38]
Chr11:119171550 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1783A>G (p.Ile595Val) single nucleotide variant Cardiovascular phenotype [RCV002400284]|Juvenile myelomonocytic leukemia [RCV002489613]|RASopathy [RCV001050411]|not provided [RCV001759779]|not specified [RCV001192737] Chr11:119285408 [GRCh38]
Chr11:119156118 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.118C>G (p.His40Asp) single nucleotide variant not specified [RCV001192736] Chr11:119206535 [GRCh38]
Chr11:119077245 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*2174G>A single nucleotide variant CBL-related disorder [RCV001106240] Chr11:119301955 [GRCh38]
Chr11:119172665 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1822C>A (p.Pro608Thr) single nucleotide variant CBL-related disorder [RCV001106055]|RASopathy [RCV001873505] Chr11:119285447 [GRCh38]
Chr11:119156157 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1801T>C (p.Ser601Pro) single nucleotide variant RASopathy [RCV001046982]|not provided [RCV001772248] Chr11:119285426 [GRCh38]
Chr11:119156136 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1210T>C (p.Cys404Arg) single nucleotide variant Inborn genetic diseases [RCV001266772]|RASopathy [RCV001044485] Chr11:119278280 [GRCh38]
Chr11:119148990 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*660A>G single nucleotide variant CBL-related disorder [RCV001106154] Chr11:119300441 [GRCh38]
Chr11:119171151 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*4337C>T single nucleotide variant CBL-related disorder [RCV001106327] Chr11:119304118 [GRCh38]
Chr11:119174828 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*5136G>A single nucleotide variant CBL-related disorder [RCV001103377] Chr11:119304917 [GRCh38]
Chr11:119175627 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*7678G>A single nucleotide variant CBL-related disorder [RCV001103537] Chr11:119307459 [GRCh38]
Chr11:119178169 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.2279_2346dup (p.Ala783fs) duplication not specified [RCV001175063] Chr11:119298383..119298384 [GRCh38]
Chr11:119169093..119169094 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1193A>C (p.His398Pro) single nucleotide variant CBL-related disorder [RCV001108182] Chr11:119278263 [GRCh38]
Chr11:119148973 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2399T>G (p.Phe800Cys) single nucleotide variant CBL-related disorder [RCV001108286]|RASopathy [RCV001856445] Chr11:119298505 [GRCh38]
Chr11:119169215 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*1581G>A single nucleotide variant CBL-related disorder [RCV001108365] Chr11:119301362 [GRCh38]
Chr11:119172072 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*3399T>C single nucleotide variant CBL-related disorder [RCV001108466] Chr11:119303180 [GRCh38]
Chr11:119173890 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2126G>A (p.Arg709Gln) single nucleotide variant Inborn genetic diseases [RCV002552068]|RASopathy [RCV001034867]|not specified [RCV001819738] Chr11:119297007 [GRCh38]
Chr11:119167717 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1675C>G (p.Arg559Gly) single nucleotide variant RASopathy [RCV001049260] Chr11:119285300 [GRCh38]
Chr11:119156010 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2251+40T>G single nucleotide variant not provided [RCV001680406] Chr11:119297521 [GRCh38]
Chr11:119168231 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.1431+116T>G single nucleotide variant not provided [RCV001584982] Chr11:119278829 [GRCh38]
Chr11:119149539 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1529C>G (p.Pro510Arg) single nucleotide variant RASopathy [RCV001202987] Chr11:119285066 [GRCh38]
Chr11:119155776 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.508C>T (p.Pro170Ser) single nucleotide variant CBL-related disorder [RCV001197721] Chr11:119271799 [GRCh38]
Chr11:119142509 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1634C>T (p.Pro545Leu) single nucleotide variant RASopathy [RCV001235908] Chr11:119285259 [GRCh38]
Chr11:119155969 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
NM_005188.4(CBL):c.195+14T>G single nucleotide variant RASopathy [RCV002559274]|not specified [RCV001199939] Chr11:119206626 [GRCh38]
Chr11:119077336 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.367A>G (p.Met123Val) single nucleotide variant RASopathy [RCV001201826] Chr11:119232619 [GRCh38]
Chr11:119103329 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.226G>A (p.Ala76Thr) single nucleotide variant RASopathy [RCV001212795] Chr11:119232478 [GRCh38]
Chr11:119103188 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6429T>C single nucleotide variant CBL-related disorder [RCV001103453] Chr11:119306210 [GRCh38]
Chr11:119176920 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6528T>C single nucleotide variant CBL-related disorder [RCV001103455] Chr11:119306309 [GRCh38]
Chr11:119177019 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1227+5G>A single nucleotide variant Juvenile myelomonocytic leukemia [RCV002480670]|RASopathy [RCV001205128]|not provided [RCV001812249] Chr11:119278302 [GRCh38]
Chr11:119149012 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*43G>A single nucleotide variant CBL-related disorder [RCV001104993] Chr11:119299824 [GRCh38]
Chr11:119170534 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*329A>G single nucleotide variant CBL-related disorder [RCV001104994] Chr11:119300110 [GRCh38]
Chr11:119170820 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.*560A>T single nucleotide variant CBL-related disorder [RCV001104996] Chr11:119300341 [GRCh38]
Chr11:119171051 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*4019G>A single nucleotide variant CBL-related disorder [RCV001105198] Chr11:119303800 [GRCh38]
Chr11:119174510 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2041_2044inv (p.Leu681_Pro682delinsGluAla) inversion CBL-related disorder [RCV002291732]|RASopathy [RCV001204481] Chr11:119296922..119296925 [GRCh38]
Chr11:119167632..119167635 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2249_2251dup (p.Phe750_Gly751insVal) duplication RASopathy [RCV001059600] Chr11:119297478..119297479 [GRCh38]
Chr11:119168188..119168189 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2308G>A (p.Glu770Lys) single nucleotide variant RASopathy [RCV001211127] Chr11:119298414 [GRCh38]
Chr11:119169124 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2021A>G (p.Tyr674Cys) single nucleotide variant RASopathy [RCV001207121] Chr11:119287931 [GRCh38]
Chr11:119158641 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*4667G>A single nucleotide variant CBL-related disorder [RCV001106329] Chr11:119304448 [GRCh38]
Chr11:119175158 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6806T>C single nucleotide variant CBL-related disorder [RCV001106515] Chr11:119306587 [GRCh38]
Chr11:119177297 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6872A>T single nucleotide variant CBL-related disorder [RCV001106516] Chr11:119306653 [GRCh38]
Chr11:119177363 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1399C>G (p.Leu467Val) single nucleotide variant CBL-related disorder [RCV001102984]|RASopathy [RCV002555004] Chr11:119278681 [GRCh38]
Chr11:119149391 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*1164T>G single nucleotide variant CBL-related disorder [RCV001108363] Chr11:119300945 [GRCh38]
Chr11:119171655 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*1252G>A single nucleotide variant CBL-related disorder [RCV001108364] Chr11:119301033 [GRCh38]
Chr11:119171743 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*4716C>G single nucleotide variant CBL-related disorder [RCV001108549] Chr11:119304497 [GRCh38]
Chr11:119175207 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6261A>T single nucleotide variant CBL-related disorder [RCV001108631] Chr11:119306042 [GRCh38]
Chr11:119176752 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*7241A>G single nucleotide variant CBL-related disorder [RCV001108701] Chr11:119307022 [GRCh38]
Chr11:119177732 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*5006A>G single nucleotide variant CBL-related disorder [RCV001103375] Chr11:119304787 [GRCh38]
Chr11:119175497 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*5044C>T single nucleotide variant CBL-related disorder [RCV001103376] Chr11:119304825 [GRCh38]
Chr11:119175535 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6484G>A single nucleotide variant CBL-related disorder [RCV001103454] Chr11:119306265 [GRCh38]
Chr11:119176975 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_118967698)_(119170501_?)dup duplication DPAGT1-congenital disorder of glycosylation [RCV001033778] Chr11:118967698..119170501 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.664A>C (p.Met222Leu) single nucleotide variant CBL-related disorder [RCV003333137]|Juvenile myelomonocytic leukemia [RCV003333136]|RASopathy [RCV001215881]|not specified [RCV002298905] Chr11:119273941 [GRCh38]
Chr11:119144651 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*2008A>T single nucleotide variant CBL-related disorder [RCV001105111] Chr11:119301789 [GRCh38]
Chr11:119172499 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*2147C>G single nucleotide variant CBL-related disorder [RCV001105113] Chr11:119301928 [GRCh38]
Chr11:119172638 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.*5379G>T single nucleotide variant CBL-related disorder [RCV001105292] Chr11:119305160 [GRCh38]
Chr11:119175870 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6678G>A single nucleotide variant CBL-related disorder [RCV001105373] Chr11:119306459 [GRCh38]
Chr11:119177169 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6712C>G single nucleotide variant CBL-related disorder [RCV001105374] Chr11:119306493 [GRCh38]
Chr11:119177203 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6795A>G single nucleotide variant CBL-related disorder [RCV001105376] Chr11:119306576 [GRCh38]
Chr11:119177286 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2485C>T (p.Arg829Trp) single nucleotide variant Cardiovascular phenotype [RCV002429656]|Noonan syndrome and Noonan-related syndrome [RCV001813571]|RASopathy [RCV001053577]|not specified [RCV001819776] Chr11:119299545 [GRCh38]
Chr11:119170255 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.265C>T (p.Pro89Ser) single nucleotide variant RASopathy [RCV001063861] Chr11:119232517 [GRCh38]
Chr11:119103227 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1247G>C (p.Cys416Ser) single nucleotide variant CBL-related disorder [RCV001252955]|RASopathy [RCV003770311]|not provided [RCV003222276] Chr11:119278529 [GRCh38]
Chr11:119149239 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_005188.4(CBL):c.2604G>A (p.Gly868=) single nucleotide variant RASopathy [RCV002069365] Chr11:119299664 [GRCh38]
Chr11:119170374 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1637C>T (p.Pro546Leu) single nucleotide variant RASopathy [RCV001879990]|not specified [RCV001260380] Chr11:119285262 [GRCh38]
Chr11:119155972 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2155G>A (p.Ala719Thr) single nucleotide variant RASopathy [RCV001879991]|not specified [RCV001260381] Chr11:119297385 [GRCh38]
Chr11:119168095 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.195+12_195+13delinsTT indel RASopathy [RCV002069377]|not specified [RCV001260436] Chr11:119206624..119206625 [GRCh38]
Chr11:119077334..119077335 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.2509G>A (p.Ala837Thr) single nucleotide variant RASopathy [RCV002537671]|not specified [RCV001264606] Chr11:119299569 [GRCh38]
Chr11:119170279 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1166A>C (p.Lys389Thr) single nucleotide variant Inborn genetic diseases [RCV001267053]|not provided [RCV001587308] Chr11:119278236 [GRCh38]
Chr11:119148946 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_005188.4(CBL):c.1495C>T (p.Arg499Ter) single nucleotide variant Rhabdomyosarcoma [RCV001257539] Chr11:119285032 [GRCh38]
Chr11:119155742 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_005188.4(CBL):c.2287G>A (p.Gly763Ser) single nucleotide variant RASopathy [RCV002300549]|not specified [RCV001553726] Chr11:119298393 [GRCh38]
Chr11:119169103 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1925G>T (p.Ser642Ile) single nucleotide variant RASopathy [RCV001879989]|not specified [RCV001260379] Chr11:119285550 [GRCh38]
Chr11:119156260 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.2675_2676del (p.Leu892fs) deletion Inborn genetic diseases [RCV001267510] Chr11:119299734..119299735 [GRCh38]
Chr11:119170444..119170445 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2252-2A>G single nucleotide variant RASopathy [RCV001307265]|not provided [RCV001751586] Chr11:119298356 [GRCh38]
Chr11:119169066 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.286C>T (p.Arg96Cys) single nucleotide variant Cardiovascular phenotype [RCV003166829]|Juvenile myelomonocytic leukemia [RCV002476480]|RASopathy [RCV001317530]|not provided [RCV002224059] Chr11:119232538 [GRCh38]
Chr11:119103248 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.227C>A (p.Ala76Glu) single nucleotide variant RASopathy [RCV001301737] Chr11:119232479 [GRCh38]
Chr11:119103189 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1512G>T (p.Pro504=) single nucleotide variant Cardiovascular phenotype [RCV003166627]|RASopathy [RCV002070110]|not specified [RCV001290559] Chr11:119285049 [GRCh38]
Chr11:119155759 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.611G>C (p.Ser204Thr) single nucleotide variant RASopathy [RCV001342086] Chr11:119273888 [GRCh38]
Chr11:119144598 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1649G>A (p.Arg550Gln) single nucleotide variant RASopathy [RCV001300511]|not provided [RCV001579868] Chr11:119285274 [GRCh38]
Chr11:119155984 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2715T>C (p.Ala905=) single nucleotide variant RASopathy [RCV001422998] Chr11:119299775 [GRCh38]
Chr11:119170485 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1100A>G (p.Gln367Arg) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813591]|RASopathy [RCV001361524]|not provided [RCV002462956] Chr11:119278170 [GRCh38]
Chr11:119148880 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_005188.4(CBL):c.1110A>G (p.Leu370=) single nucleotide variant RASopathy [RCV001396787] Chr11:119278180 [GRCh38]
Chr11:119148890 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_118967698)_(119170501_?)dup duplication DPAGT1-CDG [RCV001313747] Chr11:118967698..119170501 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.195+5A>G single nucleotide variant RASopathy [RCV001337807] Chr11:119206617 [GRCh38]
Chr11:119077327 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2012A>G (p.Asn671Ser) single nucleotide variant Cardiovascular phenotype [RCV003169795]|RASopathy [RCV001360955] Chr11:119287922 [GRCh38]
Chr11:119158632 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1496G>A (p.Arg499Gln) single nucleotide variant RASopathy [RCV001306846] Chr11:119285033 [GRCh38]
Chr11:119155743 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV001309948] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1517G>T (p.Arg506Leu) single nucleotide variant RASopathy [RCV001344142] Chr11:119285054 [GRCh38]
Chr11:119155764 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1700G>A (p.Cys567Tyr) single nucleotide variant RASopathy [RCV001345140] Chr11:119285325 [GRCh38]
Chr11:119156035 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_118967698)_(119170501_?)del deletion Rasopathy [RCV001304848] Chr11:118967698..119170501 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.260T>A (p.Leu87Gln) single nucleotide variant RASopathy [RCV001366567] Chr11:119232512 [GRCh38]
Chr11:119103222 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_119077108)_(120133495_?)dup duplication RASopathy [RCV001314250] Chr11:119077108..120133495 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1563+16T>G single nucleotide variant not specified [RCV001269261] Chr11:119285116 [GRCh38]
Chr11:119155826 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.686A>T (p.Asp229Val) single nucleotide variant Noonan-like syndrome [RCV001270817] Chr11:119273963 [GRCh38]
Chr11:119144673 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2053A>G (p.Lys685Glu) single nucleotide variant Cardiovascular phenotype [RCV002420818]|RASopathy [RCV001368361]|See cases [RCV002275714] Chr11:119296934 [GRCh38]
Chr11:119167644 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1168G>C (p.Asp390His) single nucleotide variant not specified [RCV001358763] Chr11:119278238 [GRCh38]
Chr11:119148948 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2235C>T (p.Thr745=) single nucleotide variant Cardiovascular phenotype [RCV002421028]|RASopathy [RCV001455051]|not specified [RCV001779221] Chr11:119297465 [GRCh38]
Chr11:119168175 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2460C>T (p.Pro820=) single nucleotide variant Cardiovascular phenotype [RCV003160957]|RASopathy [RCV001484657] Chr11:119299520 [GRCh38]
Chr11:119170230 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1611C>T (p.Pro537=) single nucleotide variant RASopathy [RCV001472667] Chr11:119285236 [GRCh38]
Chr11:119155946 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.519C>T (p.Leu173=) single nucleotide variant RASopathy [RCV001493550] Chr11:119271810 [GRCh38]
Chr11:119142520 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.444-4G>T single nucleotide variant RASopathy [RCV001435573] Chr11:119271731 [GRCh38]
Chr11:119142441 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1773G>T (p.Leu591=) single nucleotide variant RASopathy [RCV001449248] Chr11:119285398 [GRCh38]
Chr11:119156108 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2655C>T (p.Ile885=) single nucleotide variant RASopathy [RCV001399782] Chr11:119299715 [GRCh38]
Chr11:119170425 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2517C>T (p.Ser839=) single nucleotide variant RASopathy [RCV001441857] Chr11:119299577 [GRCh38]
Chr11:119170287 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.966A>G (p.Lys322=) single nucleotide variant RASopathy [RCV001445016] Chr11:119276093 [GRCh38]
Chr11:119146803 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1695G>A (p.Leu565=) single nucleotide variant Cardiovascular phenotype [RCV002405059]|RASopathy [RCV001448255] Chr11:119285320 [GRCh38]
Chr11:119156030 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2556C>T (p.Thr852=) single nucleotide variant Cardiovascular phenotype [RCV002424921]|RASopathy [RCV001498756] Chr11:119299616 [GRCh38]
Chr11:119170326 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1211G>A (p.Cys404Tyr) single nucleotide variant RASopathy [RCV001866225]|not provided [RCV001588419] Chr11:119278281 [GRCh38]
Chr11:119148991 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.-44AGCCG[3] microsatellite not provided [RCV001715740] Chr11:119206371..119206372 [GRCh38]
Chr11:119077081..119077082 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.2442T>C (p.Thr814=) single nucleotide variant RASopathy [RCV001459279] Chr11:119299502 [GRCh38]
Chr11:119170212 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1830A>G (p.Thr610=) single nucleotide variant Cardiovascular phenotype [RCV002414180]|RASopathy [RCV001487537] Chr11:119285455 [GRCh38]
Chr11:119156165 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.33C>T (p.Ala11=) single nucleotide variant Cardiovascular phenotype [RCV002456850]|RASopathy [RCV001484113]|not specified [RCV001820182] Chr11:119206450 [GRCh38]
Chr11:119077160 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2251+261G>A single nucleotide variant not provided [RCV001613945] Chr11:119297742 [GRCh38]
Chr11:119168452 [GRCh37]
Chr11:11q23.3		 benign
NC_000011.10:g.119206291GGC[10] microsatellite not provided [RCV001670040] Chr11:119206290..119206292 [GRCh38]
Chr11:119077000..119077002 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.1380T>C (p.Asp460=) single nucleotide variant RASopathy [RCV001498526] Chr11:119278662 [GRCh38]
Chr11:119149372 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.891T>C (p.Cys297=) single nucleotide variant RASopathy [RCV001466998] Chr11:119276018 [GRCh38]
Chr11:119146728 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.882G>A (p.Arg294=) single nucleotide variant RASopathy [RCV001425952] Chr11:119276009 [GRCh38]
Chr11:119146719 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2346G>A (p.Pro782=) single nucleotide variant Cardiovascular phenotype [RCV002449137]|RASopathy [RCV001418287] Chr11:119298452 [GRCh38]
Chr11:119169162 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1911C>T (p.Leu637=) single nucleotide variant Cardiovascular phenotype [RCV002414185]|RASopathy [RCV001489593]|not provided [RCV003426153] Chr11:119285536 [GRCh38]
Chr11:119156246 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2251+224dup duplication not provided [RCV001732657] Chr11:119297701..119297702 [GRCh38]
Chr11:119168411..119168412 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.26C>T (p.Ser9Phe) single nucleotide variant RASopathy [RCV003108423] Chr11:119206443 [GRCh38]
Chr11:119077153 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2246C>T (p.Thr749Ile) single nucleotide variant not specified [RCV002238616] Chr11:119297476 [GRCh38]
Chr11:119168186 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1504C>T (p.Leu502Phe) single nucleotide variant CBL-related condition [RCV003396888]|RASopathy [RCV003108328] Chr11:119285041 [GRCh38]
Chr11:119155751 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NM_005188.4(CBL):c.1135C>A (p.Gln379Lys) single nucleotide variant CBL-related disorder [RCV002272849] Chr11:119278205 [GRCh38]
Chr11:119148915 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.251T>G (p.Ile84Ser) single nucleotide variant not provided [RCV002245131] Chr11:119232503 [GRCh38]
Chr11:119103213 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1485G>C (p.Pro495=) single nucleotide variant not specified [RCV002247922] Chr11:119285022 [GRCh38]
Chr11:119155732 [GRCh37]
Chr11:11q23.3		 benign
NC_000011.9:g.(?_116691583)_(121500272_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV003119252]|Immunodeficiency 18 [RCV003109226]|Immunodeficiency 19 [RCV003109224]|Inflammatory bowel disease 28 [RCV003109225]|Isolated microphthalmia 5 [RCV003119251]|RASopathy [RCV003119250] Chr11:116691583..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_005188.4(CBL):c.1401_1402del (p.Phe468fs) microsatellite RASopathy [RCV003539402]|not provided [RCV001754407] Chr11:119278679..119278680 [GRCh38]
Chr11:119149389..119149390 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.467T>G (p.Leu156Arg) single nucleotide variant not provided [RCV001767182] Chr11:119271758 [GRCh38]
Chr11:119142468 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1252T>G (p.Phe418Val) single nucleotide variant not provided [RCV001764812] Chr11:119278534 [GRCh38]
Chr11:119149244 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.622G>A (p.Ala208Thr) single nucleotide variant not provided [RCV001754237] Chr11:119273899 [GRCh38]
Chr11:119144609 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2432C>T (p.Thr811Ile) single nucleotide variant Cardiovascular phenotype [RCV002458574]|RASopathy [RCV002543965]|not provided [RCV001752189] Chr11:119298538 [GRCh38]
Chr11:119169248 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1492_1496delinsTCACT (p.Pro498_Arg499delinsSerLeu) indel not provided [RCV001752561] Chr11:119285029..119285033 [GRCh38]
Chr11:119155739..119155743 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2097G>C (p.Glu699Asp) single nucleotide variant RASopathy [RCV003655339]|not provided [RCV001752731] Chr11:119296978 [GRCh38]
Chr11:119167688 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1163A>G (p.Asp388Gly) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002488529]|RASopathy [RCV002543950]|not provided [RCV001758221] Chr11:119278233 [GRCh38]
Chr11:119148943 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.590+20A>G single nucleotide variant RASopathy [RCV002073983]|not specified [RCV001733391] Chr11:119271901 [GRCh38]
Chr11:119142611 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_005188.4(CBL):c.1244G>T (p.Gly415Val) single nucleotide variant not specified [RCV001797910] Chr11:119278526 [GRCh38]
Chr11:119149236 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2381C>T (p.Ser794Phe) single nucleotide variant RASopathy [RCV003539410]|not specified [RCV001797911] Chr11:119298487 [GRCh38]
Chr11:119169197 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1253T>C (p.Phe418Ser) single nucleotide variant Juvenile myelomonocytic leukemia [RCV001788957]|RASopathy [RCV003772177]|not provided [RCV002290763] Chr11:119278535 [GRCh38]
Chr11:119149245 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.747+74dup duplication not provided [RCV001776620] Chr11:119274081..119274082 [GRCh38]
Chr11:119144791..119144792 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.195+13C>T single nucleotide variant RASopathy [RCV002073998]|not provided [RCV001754302] Chr11:119206625 [GRCh38]
Chr11:119077335 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.1400T>C (p.Leu467Pro) single nucleotide variant Cardiovascular phenotype [RCV003299010]|RASopathy [RCV003655340]|Stroke disorder [RCV001801168] Chr11:119278682 [GRCh38]
Chr11:119149392 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.203G>A (p.Arg68Gln) single nucleotide variant Cardiovascular phenotype [RCV002422855]|not provided [RCV001797379] Chr11:119232455 [GRCh38]
Chr11:119103165 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.195+12G>T single nucleotide variant not provided [RCV001754235] Chr11:119206624 [GRCh38]
Chr11:119077334 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.1794A>G (p.Val598=) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813649] Chr11:119285419 [GRCh38]
Chr11:119156129 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2049G>A (p.Val683=) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813651]|RASopathy [RCV002074232] Chr11:119296930 [GRCh38]
Chr11:119167640 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.2708A>G (p.His903Arg) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813654]|RASopathy [RCV001869615] Chr11:119299768 [GRCh38]
Chr11:119170478 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.534A>G (p.Thr178=) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813617]|RASopathy [RCV003539411]|not specified [RCV003987910] Chr11:119271825 [GRCh38]
Chr11:119142535 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1178T>C (p.Ile393Thr) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813645]|not provided [RCV003229898] Chr11:119278248 [GRCh38]
Chr11:119148958 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2433A>G (p.Thr811=) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813652]|RASopathy [RCV001885297] Chr11:119298539 [GRCh38]
Chr11:119169249 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2047G>A (p.Val683Met) single nucleotide variant RASopathy [RCV003655344]|not specified [RCV001819369] Chr11:119296928 [GRCh38]
Chr11:119167638 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002482362]|RASopathy [RCV001869704]|not provided [RCV002291302]|not specified [RCV001819621] Chr11:119278580 [GRCh38]
Chr11:119149290 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.401A>G (p.Lys134Arg) single nucleotide variant Cardiovascular phenotype [RCV003163967]|RASopathy [RCV003655345]|not specified [RCV001820437] Chr11:119232653 [GRCh38]
Chr11:119103363 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.591-8C>T single nucleotide variant RASopathy [RCV002074346]|not specified [RCV001820685] Chr11:119273860 [GRCh38]
Chr11:119144570 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.996C>T (p.Phe332=) single nucleotide variant not specified [RCV001817338] Chr11:119276123 [GRCh38]
Chr11:119146833 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1930G>T (p.Asp644Tyr) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813702] Chr11:119285555 [GRCh38]
Chr11:119156265 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_005188.4(CBL):c.1516C>T (p.Arg506Ter) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813623] Chr11:119285053 [GRCh38]
Chr11:119155763 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_005188.4(CBL):c.1091C>T (p.Thr364Ile) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813643]|RASopathy [RCV002541488] Chr11:119277840 [GRCh38]
Chr11:119148550 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1246T>A (p.Cys416Ser) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813647]|RASopathy [RCV001869614] Chr11:119278528 [GRCh38]
Chr11:119149238 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*3927G>A single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813655] Chr11:119303708 [GRCh38]
Chr11:119174418 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1365T>C (p.Tyr455=) single nucleotide variant Cardiovascular phenotype [RCV002386576]|RASopathy [RCV002074297]|not specified [RCV001819196] Chr11:119278647 [GRCh38]
Chr11:119149357 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.16A>C (p.Lys6Gln) single nucleotide variant Inborn genetic diseases [RCV003163950]|Noonan syndrome and Noonan-related syndrome [RCV001813638]|RASopathy [RCV003655341] Chr11:119206433 [GRCh38]
Chr11:119077143 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.77T>C (p.Ile26Thr) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813639]|RASopathy [RCV002542450] Chr11:119206494 [GRCh38]
Chr11:119077204 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.911C>G (p.Ala304Gly) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813642] Chr11:119276038 [GRCh38]
Chr11:119146748 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1149A>G (p.Ile383Met) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813644]|RASopathy [RCV002541489] Chr11:119278219 [GRCh38]
Chr11:119148929 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1212_1223dup (p.Cys404_Ser407dup) duplication Noonan syndrome and Noonan-related syndrome [RCV001813646] Chr11:119278273..119278274 [GRCh38]
Chr11:119148983..119148984 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2679G>A (p.Arg893=) single nucleotide variant not specified [RCV001819541] Chr11:119299739 [GRCh38]
Chr11:119170449 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2482C>T (p.Pro828Ser) single nucleotide variant RASopathy [RCV002542038]|not specified [RCV001820234] Chr11:119299542 [GRCh38]
Chr11:119170252 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.869+10A>G single nucleotide variant RASopathy [RCV002074323]|not specified [RCV001820259] Chr11:119274963 [GRCh38]
Chr11:119145673 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.231A>G (p.Leu77=) single nucleotide variant RASopathy [RCV002077302]|not specified [RCV001820290] Chr11:119232483 [GRCh38]
Chr11:119103193 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1191A>G (p.Gly397=) single nucleotide variant Cardiovascular phenotype [RCV002334712]|RASopathy [RCV002077310]|not specified [RCV001822439] Chr11:119278261 [GRCh38]
Chr11:119148971 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.660G>A (p.Glu220=) single nucleotide variant CBL-related condition [RCV003892876]|Cardiovascular phenotype [RCV002370341]|RASopathy [RCV002542691]|not specified [RCV001822794] Chr11:119273937 [GRCh38]
Chr11:119144647 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.818C>G (p.Thr273Arg) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813641] Chr11:119274902 [GRCh38]
Chr11:119145612 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1925G>A (p.Ser642Asn) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813650]|RASopathy [RCV002542451] Chr11:119285550 [GRCh38]
Chr11:119156260 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.2544C>T (p.Ala848=) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813653] Chr11:119299604 [GRCh38]
Chr11:119170314 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002482338]|RASopathy [RCV003772256]|Stroke disorder [RCV001807536] Chr11:119278525 [GRCh38]
Chr11:119149235 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.355A>G (p.Met119Val) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813640]|RASopathy [RCV001869613] Chr11:119232607 [GRCh38]
Chr11:119103317 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1687C>T (p.Arg563Cys) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813648]|RASopathy [RCV001885296] Chr11:119285312 [GRCh38]
Chr11:119156022 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1199T>C (p.Met400Thr) single nucleotide variant CBL-related condition [RCV003401830]|RASopathy [RCV001888897] Chr11:119278269 [GRCh38]
Chr11:119148979 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.107ACC[11] (p.His39_His42dup) microsatellite RASopathy [RCV001929411] Chr11:119206522..119206523 [GRCh38]
Chr11:119077232..119077233 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1393G>A (p.Asp465Asn) single nucleotide variant RASopathy [RCV001985664] Chr11:119278675 [GRCh38]
Chr11:119149385 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2471C>T (p.Pro824Leu) single nucleotide variant RASopathy [RCV001869836]|not specified [RCV001825151] Chr11:119299531 [GRCh38]
Chr11:119170241 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.357G>T (p.Met119Ile) single nucleotide variant RASopathy [RCV001988484] Chr11:119232609 [GRCh38]
Chr11:119103319 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2612A>G (p.Tyr871Cys) single nucleotide variant RASopathy [RCV002023065] Chr11:119299672 [GRCh38]
Chr11:119170382 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2408T>C (p.Leu803Ser) single nucleotide variant RASopathy [RCV001964608] Chr11:119298514 [GRCh38]
Chr11:119169224 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.929C>T (p.Ala310Val) single nucleotide variant RASopathy [RCV002045183] Chr11:119276056 [GRCh38]
Chr11:119146766 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.2339C>T (p.Pro780Leu) single nucleotide variant RASopathy [RCV001987370] Chr11:119298445 [GRCh38]
Chr11:119169155 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2435-14C>G single nucleotide variant RASopathy [RCV001929309] Chr11:119299481 [GRCh38]
Chr11:119170191 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.586dup (p.Glu196fs) duplication RASopathy [RCV002043659] Chr11:119271873..119271874 [GRCh38]
Chr11:119142583..119142584 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2434+3G>A single nucleotide variant RASopathy [RCV001872771] Chr11:119298543 [GRCh38]
Chr11:119169253 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1357C>T (p.Pro453Ser) single nucleotide variant RASopathy [RCV002023892]|See cases [RCV002287523] Chr11:119278639 [GRCh38]
Chr11:119149349 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.420G>A (p.Met140Ile) single nucleotide variant RASopathy [RCV002002699] Chr11:119232672 [GRCh38]
Chr11:119103382 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1744C>A (p.Pro582Thr) single nucleotide variant CBL-related disorder [RCV002227576]|RASopathy [RCV002040272] Chr11:119285369 [GRCh38]
Chr11:119156079 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.936G>T (p.Gly312=) single nucleotide variant RASopathy [RCV002021810] Chr11:119276063 [GRCh38]
Chr11:119146773 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.511A>G (p.Ser171Gly) single nucleotide variant RASopathy [RCV001910184] Chr11:119271802 [GRCh38]
Chr11:119142512 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2369T>A (p.Leu790His) single nucleotide variant RASopathy [RCV001964492] Chr11:119298475 [GRCh38]
Chr11:119169185 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.25T>C (p.Ser9Pro) single nucleotide variant RASopathy [RCV001967438] Chr11:119206442 [GRCh38]
Chr11:119077152 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.711G>A (p.Ser237=) single nucleotide variant Cardiovascular phenotype [RCV002370560]|RASopathy [RCV001984541] Chr11:119273988 [GRCh38]
Chr11:119144698 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1274G>A (p.Gly425Asp) single nucleotide variant RASopathy [RCV001890002]|not provided [RCV002224103] Chr11:119278556 [GRCh38]
Chr11:119149266 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2434A>G (p.Asn812Asp) single nucleotide variant RASopathy [RCV001966888] Chr11:119298540 [GRCh38]
Chr11:119169250 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.94G>A (p.Ala32Thr) single nucleotide variant RASopathy [RCV001913605] Chr11:119206511 [GRCh38]
Chr11:119077221 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2087A>G (p.Glu696Gly) single nucleotide variant not specified [RCV001825137] Chr11:119296968 [GRCh38]
Chr11:119167678 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1821T>A (p.Asp607Glu) single nucleotide variant RASopathy [RCV002044627] Chr11:119285446 [GRCh38]
Chr11:119156156 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1031A>G (p.Asn344Ser) single nucleotide variant Inborn genetic diseases [RCV002547960]|RASopathy [RCV001894209] Chr11:119277780 [GRCh38]
Chr11:119148490 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.55G>A (p.Gly19Ser) single nucleotide variant RASopathy [RCV002040796] Chr11:119206472 [GRCh38]
Chr11:119077182 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2093C>A (p.Thr698Lys) single nucleotide variant RASopathy [RCV001892035] Chr11:119296974 [GRCh38]
Chr11:119167684 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1231_1236del (p.Ser411_Glu412del) deletion RASopathy [RCV002039415] Chr11:119278510..119278515 [GRCh38]
Chr11:119149220..119149225 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1789A>G (p.Lys597Glu) single nucleotide variant RASopathy [RCV001910849] Chr11:119285414 [GRCh38]
Chr11:119156124 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1468C>G (p.Gln490Glu) single nucleotide variant Inborn genetic diseases [RCV002555288]|RASopathy [RCV001913083]|not provided [RCV002275277] Chr11:119285005 [GRCh38]
Chr11:119155715 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.473T>C (p.Phe158Ser) single nucleotide variant RASopathy [RCV002007716] Chr11:119271764 [GRCh38]
Chr11:119142474 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.124C>T (p.His42Tyr) single nucleotide variant RASopathy [RCV001982828] Chr11:119206541 [GRCh38]
Chr11:119077251 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2053A>C (p.Lys685Gln) single nucleotide variant RASopathy [RCV001871084] Chr11:119296934 [GRCh38]
Chr11:119167644 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1119G>T (p.Glu373Asp) single nucleotide variant RASopathy [RCV001984964]|not provided [RCV003426260] Chr11:119278189 [GRCh38]
Chr11:119148899 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1210T>A (p.Cys404Ser) single nucleotide variant RASopathy [RCV002042103] Chr11:119278280 [GRCh38]
Chr11:119148990 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2389A>C (p.Ser797Arg) single nucleotide variant RASopathy [RCV001908386] Chr11:119298495 [GRCh38]
Chr11:119169205 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.572G>C (p.Arg191Thr) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002491957]|RASopathy [RCV001964705] Chr11:119271863 [GRCh38]
Chr11:119142573 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1193A>G (p.His398Arg) single nucleotide variant CBL-related disorder [RCV003388617]|RASopathy [RCV002040013]|not provided [RCV002508323]|not specified [RCV003155433] Chr11:119278263 [GRCh38]
Chr11:119148973 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_005188.4(CBL):c.1455C>G (p.Phe485Leu) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002503470]|RASopathy [RCV001892342] Chr11:119284992 [GRCh38]
Chr11:119155702 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1187G>A (p.Cys396Tyr) single nucleotide variant RASopathy [RCV001965563] Chr11:119278257 [GRCh38]
Chr11:119148967 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1088T>C (p.Val363Ala) single nucleotide variant RASopathy [RCV001982713] Chr11:119277837 [GRCh38]
Chr11:119148547 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication not provided [RCV003107886] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_005188.4(CBL):c.898C>T (p.Leu300=) single nucleotide variant Cardiovascular phenotype [RCV002443074]|RASopathy [RCV002036083] Chr11:119276025 [GRCh38]
Chr11:119146735 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2579A>T (p.Glu860Val) single nucleotide variant RASopathy [RCV002036091] Chr11:119299639 [GRCh38]
Chr11:119170349 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1238G>A (p.Gly413Asp) single nucleotide variant RASopathy [RCV001943246] Chr11:119278520 [GRCh38]
Chr11:119149230 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2315A>T (p.Asp772Val) single nucleotide variant RASopathy [RCV002019748] Chr11:119298421 [GRCh38]
Chr11:119169131 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.960C>A (p.His320Gln) single nucleotide variant RASopathy [RCV002001322] Chr11:119276087 [GRCh38]
Chr11:119146797 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2401G>T (p.Gly801Cys) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002479744]|RASopathy [RCV002026024] Chr11:119298507 [GRCh38]
Chr11:119169217 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1028G>A (p.Arg343Gln) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002506982]|RASopathy [RCV001887440] Chr11:119277777 [GRCh38]
Chr11:119148487 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1259G>T (p.Arg420Leu) single nucleotide variant RASopathy [RCV001875296] Chr11:119278541 [GRCh38]
Chr11:119149251 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1733T>C (p.Leu578Pro) single nucleotide variant RASopathy [RCV002038308] Chr11:119285358 [GRCh38]
Chr11:119156068 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.826G>A (p.Glu276Lys) single nucleotide variant RASopathy [RCV001973486] Chr11:119274910 [GRCh38]
Chr11:119145620 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1282C>T (p.Pro428Ser) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002479402]|RASopathy [RCV001933135] Chr11:119278564 [GRCh38]
Chr11:119149274 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2590C>G (p.Leu864Val) single nucleotide variant RASopathy [RCV001883617] Chr11:119299650 [GRCh38]
Chr11:119170360 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.691A>G (p.Thr231Ala) single nucleotide variant RASopathy [RCV001904571] Chr11:119273968 [GRCh38]
Chr11:119144678 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2573C>T (p.Ser858Phe) single nucleotide variant RASopathy [RCV001937970] Chr11:119299633 [GRCh38]
Chr11:119170343 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.184C>G (p.Leu62Val) single nucleotide variant RASopathy [RCV002000695] Chr11:119206601 [GRCh38]
Chr11:119077311 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1735C>G (p.Pro579Ala) single nucleotide variant RASopathy [RCV002000719] Chr11:119285360 [GRCh38]
Chr11:119156070 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1424G>T (p.Gly475Val) single nucleotide variant RASopathy [RCV002016742] Chr11:119278706 [GRCh38]
Chr11:119149416 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1240C>G (p.Gln414Glu) single nucleotide variant RASopathy [RCV001977909] Chr11:119278522 [GRCh38]
Chr11:119149232 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1786C>T (p.Pro596Ser) single nucleotide variant RASopathy [RCV001931001] Chr11:119285411 [GRCh38]
Chr11:119156121 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.829G>T (p.Val277Leu) single nucleotide variant RASopathy [RCV001933919] Chr11:119274913 [GRCh38]
Chr11:119145623 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1745C>T (p.Pro582Leu) single nucleotide variant CBL-related condition [RCV003923348]|RASopathy [RCV001881579] Chr11:119285370 [GRCh38]
Chr11:119156080 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2252G>T (p.Gly751Val) single nucleotide variant RASopathy [RCV001978561] Chr11:119298358 [GRCh38]
Chr11:119169068 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2270C>T (p.Ala757Val) single nucleotide variant RASopathy [RCV001992321] Chr11:119298376 [GRCh38]
Chr11:119169086 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.127C>A (p.Leu43Ile) single nucleotide variant RASopathy [RCV002030787] Chr11:119206544 [GRCh38]
Chr11:119077254 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1217C>T (p.Thr406Ile) single nucleotide variant RASopathy [RCV001979153] Chr11:119278287 [GRCh38]
Chr11:119148997 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1962A>T (p.Leu654Phe) single nucleotide variant RASopathy [RCV002049318] Chr11:119287872 [GRCh38]
Chr11:119158582 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.8G>T (p.Gly3Val) single nucleotide variant RASopathy [RCV001975309] Chr11:119206425 [GRCh38]
Chr11:119077135 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.98T>A (p.Phe33Tyr) single nucleotide variant RASopathy [RCV001995130] Chr11:119206515 [GRCh38]
Chr11:119077225 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1954A>C (p.Ser652Arg) single nucleotide variant RASopathy [RCV001879359] Chr11:119287864 [GRCh38]
Chr11:119158574 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1095+3G>A single nucleotide variant RASopathy [RCV001915632] Chr11:119277847 [GRCh38]
Chr11:119148557 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2656G>A (p.Glu886Lys) single nucleotide variant RASopathy [RCV001991705] Chr11:119299716 [GRCh38]
Chr11:119170426 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2502A>T (p.Glu834Asp) single nucleotide variant Juvenile myelomonocytic leukemia [RCV002503352]|RASopathy [RCV002033152] Chr11:119299562 [GRCh38]
Chr11:119170272 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1484del (p.Pro495fs) deletion RASopathy [RCV001937479] Chr11:119285017 [GRCh38]
Chr11:119155727 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.495A>G (p.Leu165=) single nucleotide variant RASopathy [RCV001998730] Chr11:119271786 [GRCh38]
Chr11:119142496 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.406G>A (p.Gly136Arg) single nucleotide variant RASopathy [RCV002026978] Chr11:119232658 [GRCh38]
Chr11:119103368 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2318G>A (p.Gly773Glu) single nucleotide variant RASopathy [RCV001980683] Chr11:119298424 [GRCh38]
Chr11:119169134 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2404T>A (p.Trp802Arg) single nucleotide variant RASopathy [RCV002018316] Chr11:119298510 [GRCh38]
Chr11:119169220 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2557G>A (p.Ala853Thr) single nucleotide variant RASopathy [RCV001940306] Chr11:119299617 [GRCh38]
Chr11:119170327 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2366C>T (p.Thr789Ile) single nucleotide variant RASopathy [RCV001906990] Chr11:119298472 [GRCh38]
Chr11:119169182 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.866G>T (p.Gly289Val) single nucleotide variant RASopathy [RCV002035690] Chr11:119274950 [GRCh38]
Chr11:119145660 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys) single nucleotide variant Cardiovascular phenotype [RCV003164062]|Juvenile myelomonocytic leukemia [RCV002482454]|RASopathy [RCV001866428] Chr11:119296967 [GRCh38]
Chr11:119167677 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.2227T>C (p.Ser743Pro) single nucleotide variant RASopathy [RCV002018471] Chr11:119297457 [GRCh38]
Chr11:119168167 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1132_1137del (p.Phe378_Gln379del) deletion RASopathy [RCV002033283] Chr11:119278201..119278206 [GRCh38]
Chr11:119148911..119148916 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.785C>T (p.Ala262Val) single nucleotide variant RASopathy [RCV001973383] Chr11:119274869 [GRCh38]
Chr11:119145579 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2108C>T (p.Pro703Leu) single nucleotide variant RASopathy [RCV001899753] Chr11:119296989 [GRCh38]
Chr11:119167699 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1237G>A (p.Gly413Ser) single nucleotide variant RASopathy [RCV002027574] Chr11:119278519 [GRCh38]
Chr11:119149229 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2349C>A (p.Ala783=) single nucleotide variant RASopathy [RCV001990551] Chr11:119298455 [GRCh38]
Chr11:119169165 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1534A>G (p.Ser512Gly) single nucleotide variant RASopathy [RCV001938836] Chr11:119285071 [GRCh38]
Chr11:119155781 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2435-1_2435del deletion Juvenile myelomonocytic leukemia [RCV002492290]|RASopathy [RCV001989286] Chr11:119299493..119299494 [GRCh38]
Chr11:119170203..119170204 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1361A>G (p.Asn454Ser) single nucleotide variant RASopathy [RCV001932005] Chr11:119278643 [GRCh38]
Chr11:119149353 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1137A>C (p.Gln379His) single nucleotide variant RASopathy [RCV001996811] Chr11:119278207 [GRCh38]
Chr11:119148917 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1688G>A (p.Arg563His) single nucleotide variant RASopathy [RCV002029106] Chr11:119285313 [GRCh38]
Chr11:119156023 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_118007742)_(119170491_?)dup duplication DPAGT1-congenital disorder of glycosylation [RCV001975773] Chr11:118007742..119170491 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1849C>T (p.Arg617Trp) single nucleotide variant Cardiovascular phenotype [RCV003303650]|RASopathy [RCV002029227] Chr11:119285474 [GRCh38]
Chr11:119156184 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2044C>G (p.Pro682Ala) single nucleotide variant RASopathy [RCV001977462] Chr11:119296925 [GRCh38]
Chr11:119167635 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1095+18_1095+19delinsGT indel RASopathy [RCV001938357]|not specified [RCV002509718] Chr11:119277862..119277863 [GRCh38]
Chr11:119148572..119148573 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_005188.4(CBL):c.755C>G (p.Ser252Cys) single nucleotide variant RASopathy [RCV001957427] Chr11:119274839 [GRCh38]
Chr11:119145549 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2314G>A (p.Asp772Asn) single nucleotide variant RASopathy [RCV002017122] Chr11:119298420 [GRCh38]
Chr11:119169130 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1997C>T (p.Pro666Leu) single nucleotide variant RASopathy [RCV001937998] Chr11:119287907 [GRCh38]
Chr11:119158617 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1822C>T (p.Pro608Ser) single nucleotide variant RASopathy [RCV001960382] Chr11:119285447 [GRCh38]
Chr11:119156157 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1634C>A (p.Pro545Gln) single nucleotide variant RASopathy [RCV002036502] Chr11:119285259 [GRCh38]
Chr11:119155969 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1618C>T (p.Arg540Ter) single nucleotide variant CBL-related condition [RCV003416541]|Juvenile myelomonocytic leukemia [RCV002503497]|RASopathy [RCV001884425] Chr11:119285243 [GRCh38]
Chr11:119155953 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2350G>C (p.Val784Leu) single nucleotide variant RASopathy [RCV002030554] Chr11:119298456 [GRCh38]
Chr11:119169166 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1175A>T (p.Lys392Met) single nucleotide variant RASopathy [RCV001982100] Chr11:119278245 [GRCh38]
Chr11:119148955 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2192A>G (p.Tyr731Cys) single nucleotide variant RASopathy [RCV001956591] Chr11:119297422 [GRCh38]
Chr11:119168132 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1543G>C (p.Ala515Pro) single nucleotide variant RASopathy [RCV002047184] Chr11:119285080 [GRCh38]
Chr11:119155790 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.156C>A (p.Asp52Glu) single nucleotide variant RASopathy [RCV001992077] Chr11:119206573 [GRCh38]
Chr11:119077283 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2515A>G (p.Ser839Gly) single nucleotide variant RASopathy [RCV001879345] Chr11:119299575 [GRCh38]
Chr11:119170285 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1220C>A (p.Ser407Tyr) single nucleotide variant Cardiovascular phenotype [RCV002361150]|RASopathy [RCV001917142] Chr11:119278290 [GRCh38]
Chr11:119149000 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1112_1114del (p.Tyr371del) deletion RASopathy [RCV001933542] Chr11:119278181..119278183 [GRCh38]
Chr11:119148891..119148893 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_005188.4(CBL):c.2686G>A (p.Val896Ile) single nucleotide variant RASopathy [RCV001904837] Chr11:119299746 [GRCh38]
Chr11:119170456 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1096-8A>G single nucleotide variant RASopathy [RCV002085750] Chr11:119278158 [GRCh38]
Chr11:119148868 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.972C>T (p.Leu324=) single nucleotide variant RASopathy [RCV002166388] Chr11:119276099 [GRCh38]
Chr11:119146809 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.748-6C>T single nucleotide variant RASopathy [RCV002130393] Chr11:119274826 [GRCh38]
Chr11:119145536 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1323C>T (p.Ser441=) single nucleotide variant Cardiovascular phenotype [RCV002382438]|RASopathy [RCV002148869] Chr11:119278605 [GRCh38]
Chr11:119149315 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1195C>T (p.Leu399Phe) single nucleotide variant not provided [RCV002224347] Chr11:119278265 [GRCh38]
Chr11:119148975 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1078C>T (p.His360Tyr) single nucleotide variant not provided [RCV002224391] Chr11:119277827 [GRCh38]
Chr11:119148537 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2434+19T>C single nucleotide variant RASopathy [RCV002076011] Chr11:119298559 [GRCh38]
Chr11:119169269 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2024C>G (p.Ser675Cys) single nucleotide variant RASopathy [RCV002165549] Chr11:119287934 [GRCh38]
Chr11:119158644 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.870-18G>T single nucleotide variant RASopathy [RCV002130622] Chr11:119275979 [GRCh38]
Chr11:119146689 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.201G>A (p.Val67=) single nucleotide variant RASopathy [RCV002192819] Chr11:119232453 [GRCh38]
Chr11:119103163 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.656T>C (p.Leu219Pro) single nucleotide variant Cardiovascular phenotype [RCV002363724]|RASopathy [RCV003120841]|not provided [RCV002223489] Chr11:119273933 [GRCh38]
Chr11:119144643 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.590+11G>A single nucleotide variant RASopathy [RCV002087045] Chr11:119271892 [GRCh38]
Chr11:119142602 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1431+17G>A single nucleotide variant RASopathy [RCV002188165] Chr11:119278730 [GRCh38]
Chr11:119149440 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1069C>T (p.Pro357Ser) single nucleotide variant not provided [RCV002211204] Chr11:119277818 [GRCh38]
Chr11:119148528 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.837T>C (p.Ala279=) single nucleotide variant CBL-related condition [RCV003895868]|Cardiovascular phenotype [RCV002434533]|RASopathy [RCV002076262] Chr11:119274921 [GRCh38]
Chr11:119145631 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1008-11A>G single nucleotide variant RASopathy [RCV002091578] Chr11:119277746 [GRCh38]
Chr11:119148456 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1227+17C>T single nucleotide variant RASopathy [RCV002205691] Chr11:119278314 [GRCh38]
Chr11:119149024 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.108C>T (p.His36=) single nucleotide variant Cardiovascular phenotype [RCV003355813]|RASopathy [RCV002106533] Chr11:119206525 [GRCh38]
Chr11:119077235 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1563+13C>T single nucleotide variant RASopathy [RCV002109279] Chr11:119285113 [GRCh38]
Chr11:119155823 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.444-9dup duplication RASopathy [RCV002090846] Chr11:119271725..119271726 [GRCh38]
Chr11:119142435..119142436 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1941+23_1941+26del deletion RASopathy [RCV002089504] Chr11:119285586..119285589 [GRCh38]
Chr11:119156296..119156299 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.253T>C (p.Leu85=) single nucleotide variant RASopathy [RCV002144718] Chr11:119232505 [GRCh38]
Chr11:119103215 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.*3503C>T single nucleotide variant not provided [RCV002223678] Chr11:119303284 [GRCh38]
Chr11:119173994 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1443G>A (p.Pro481=) single nucleotide variant RASopathy [RCV002108059] Chr11:119284980 [GRCh38]
Chr11:119155690 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2263T>C (p.Leu755=) single nucleotide variant RASopathy [RCV002192048] Chr11:119298369 [GRCh38]
Chr11:119169079 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1182G>A (p.Glu394=) single nucleotide variant Cardiovascular phenotype [RCV002337369]|RASopathy [RCV002148504] Chr11:119278252 [GRCh38]
Chr11:119148962 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2580G>A (p.Glu860=) single nucleotide variant RASopathy [RCV002111928] Chr11:119299640 [GRCh38]
Chr11:119170350 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.129C>T (p.Leu43=) single nucleotide variant RASopathy [RCV002128095] Chr11:119206546 [GRCh38]
Chr11:119077256 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1096-9del deletion RASopathy [RCV002105963] Chr11:119278150 [GRCh38]
Chr11:119148860 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.747+8A>G single nucleotide variant RASopathy [RCV002128140] Chr11:119274032 [GRCh38]
Chr11:119144742 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1221C>T (p.Ser407=) single nucleotide variant CBL-related condition [RCV003895867]|Cardiovascular phenotype [RCV002352881]|RASopathy [RCV002071566] Chr11:119278291 [GRCh38]
Chr11:119149001 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1507C>T (p.Leu503=) single nucleotide variant RASopathy [RCV002085287] Chr11:119285044 [GRCh38]
Chr11:119155754 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2434+13A>G single nucleotide variant RASopathy [RCV002130404] Chr11:119298553 [GRCh38]
Chr11:119169263 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1224G>C (p.Trp408Cys) single nucleotide variant not provided [RCV002224398] Chr11:119278294 [GRCh38]
Chr11:119149004 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.748-16G>C single nucleotide variant RASopathy [RCV002172560] Chr11:119274816 [GRCh38]
Chr11:119145526 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.714T>G (p.Val238=) single nucleotide variant CBL-related condition [RCV003968879]|Cardiovascular phenotype [RCV002361507]|RASopathy [RCV002095705] Chr11:119273991 [GRCh38]
Chr11:119144701 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1095+18T>C single nucleotide variant RASopathy [RCV002215325] Chr11:119277862 [GRCh38]
Chr11:119148572 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.399C>T (p.Phe133=) single nucleotide variant RASopathy [RCV002215969] Chr11:119232651 [GRCh38]
Chr11:119103361 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.747+19_747+20insA insertion RASopathy [RCV002093051] Chr11:119274043..119274044 [GRCh38]
Chr11:119144753..119144754 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1104T>C (p.Tyr368=) single nucleotide variant RASopathy [RCV002212960] Chr11:119278174 [GRCh38]
Chr11:119148884 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1431+11A>C single nucleotide variant RASopathy [RCV002188225] Chr11:119278724 [GRCh38]
Chr11:119149434 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.814T>C (p.Leu272=) single nucleotide variant RASopathy [RCV002131651] Chr11:119274898 [GRCh38]
Chr11:119145608 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2721G>A (p.Ter907=) single nucleotide variant Cardiovascular phenotype [RCV003308014]|RASopathy [RCV002153191] Chr11:119299781 [GRCh38]
Chr11:119170491 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.196-16T>C single nucleotide variant RASopathy [RCV002078023] Chr11:119232432 [GRCh38]
Chr11:119103142 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1743C>T (p.Val581=) single nucleotide variant RASopathy [RCV002195117] Chr11:119285368 [GRCh38]
Chr11:119156078 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2169C>T (p.Asp723=) single nucleotide variant CBL-related condition [RCV003960878]|RASopathy [RCV002151725] Chr11:119297399 [GRCh38]
Chr11:119168109 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.822T>C (p.Tyr274=) single nucleotide variant RASopathy [RCV002095212] Chr11:119274906 [GRCh38]
Chr11:119145616 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.702T>C (p.Asp234=) single nucleotide variant RASopathy [RCV002134996] Chr11:119273979 [GRCh38]
Chr11:119144689 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1023T>C (p.Asp341=) single nucleotide variant Cardiovascular phenotype [RCV002382358]|RASopathy [RCV002096518] Chr11:119277772 [GRCh38]
Chr11:119148482 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2259G>A (p.Gly753=) single nucleotide variant RASopathy [RCV002170906] Chr11:119298365 [GRCh38]
Chr11:119169075 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2154-7G>C single nucleotide variant RASopathy [RCV002196477] Chr11:119297377 [GRCh38]
Chr11:119168087 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.444-20T>C single nucleotide variant RASopathy [RCV002166669] Chr11:119271715 [GRCh38]
Chr11:119142425 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1911C>G (p.Leu637=) single nucleotide variant RASopathy [RCV002174925] Chr11:119285536 [GRCh38]
Chr11:119156246 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2025T>C (p.Ser675=) single nucleotide variant RASopathy [RCV002195941] Chr11:119287935 [GRCh38]
Chr11:119158645 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.573A>G (p.Arg191=) single nucleotide variant RASopathy [RCV002078791]|not specified [RCV002240300] Chr11:119271864 [GRCh38]
Chr11:119142574 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.195+18C>T single nucleotide variant RASopathy [RCV002096021] Chr11:119206630 [GRCh38]
Chr11:119077340 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1432-7A>G single nucleotide variant RASopathy [RCV002079925] Chr11:119284962 [GRCh38]
Chr11:119155672 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.228G>A (p.Ala76=) single nucleotide variant RASopathy [RCV002086714] Chr11:119232480 [GRCh38]
Chr11:119103190 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2004A>T (p.Ser668=) single nucleotide variant Cardiovascular phenotype [RCV002416456]|RASopathy [RCV002173647] Chr11:119287914 [GRCh38]
Chr11:119158624 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.443+17A>G single nucleotide variant RASopathy [RCV002151128] Chr11:119232712 [GRCh38]
Chr11:119103422 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2292C>T (p.Pro764=) single nucleotide variant CBL-related condition [RCV003978573]|RASopathy [RCV002210070] Chr11:119298398 [GRCh38]
Chr11:119169108 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.195+12G>C single nucleotide variant RASopathy [RCV002112923] Chr11:119206624 [GRCh38]
Chr11:119077334 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.748-12T>A single nucleotide variant RASopathy [RCV002195706] Chr11:119274820 [GRCh38]
Chr11:119145530 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.444-18C>T single nucleotide variant RASopathy [RCV002096955] Chr11:119271717 [GRCh38]
Chr11:119142427 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.951A>G (p.Thr317=) single nucleotide variant CBL-related condition [RCV003893105]|RASopathy [RCV002077876] Chr11:119276078 [GRCh38]
Chr11:119146788 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1281A>G (p.Glu427=) single nucleotide variant RASopathy [RCV002114847] Chr11:119278563 [GRCh38]
Chr11:119149273 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2199A>G (p.Ala733=) single nucleotide variant Cardiovascular phenotype [RCV002427614]|RASopathy [RCV002095125] Chr11:119297429 [GRCh38]
Chr11:119168139 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1942-14T>G single nucleotide variant RASopathy [RCV002206090] Chr11:119287838 [GRCh38]
Chr11:119158548 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1464C>T (p.Ala488=) single nucleotide variant Cardiovascular phenotype [RCV002391247]|RASopathy [RCV002113265] Chr11:119285001 [GRCh38]
Chr11:119155711 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2154-13C>A single nucleotide variant RASopathy [RCV002095149] Chr11:119297371 [GRCh38]
Chr11:119168081 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.748-15A>G single nucleotide variant RASopathy [RCV002078652] Chr11:119274817 [GRCh38]
Chr11:119145527 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2435-4C>T single nucleotide variant RASopathy [RCV002212353] Chr11:119299491 [GRCh38]
Chr11:119170201 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.196-19T>C single nucleotide variant RASopathy [RCV002199374] Chr11:119232429 [GRCh38]
Chr11:119103139 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.672G>A (p.Leu224=) single nucleotide variant RASopathy [RCV002201660] Chr11:119273949 [GRCh38]
Chr11:119144659 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1564-16C>A single nucleotide variant RASopathy [RCV002123226] Chr11:119285173 [GRCh38]
Chr11:119155883 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2118G>A (p.Arg706=) single nucleotide variant RASopathy [RCV002155821] Chr11:119296999 [GRCh38]
Chr11:119167709 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1564-16C>T single nucleotide variant RASopathy [RCV002203542]|not specified [RCV003331328] Chr11:119285173 [GRCh38]
Chr11:119155883 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2435-18C>T single nucleotide variant RASopathy [RCV002218549] Chr11:119299477 [GRCh38]
Chr11:119170187 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.36G>A (p.Gly12=) single nucleotide variant RASopathy [RCV002175850] Chr11:119206453 [GRCh38]
Chr11:119077163 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.30G>A (p.Gly10=) single nucleotide variant RASopathy [RCV002082095] Chr11:119206447 [GRCh38]
Chr11:119077157 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1228-20A>G single nucleotide variant RASopathy [RCV002136282] Chr11:119278490 [GRCh38]
Chr11:119149200 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.624T>C (p.Ala208=) single nucleotide variant Cardiovascular phenotype [RCV002363663]|RASopathy [RCV002124117] Chr11:119273901 [GRCh38]
Chr11:119144611 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.590+16A>C single nucleotide variant RASopathy [RCV002118904] Chr11:119271897 [GRCh38]
Chr11:119142607 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.582T>C (p.Phe194=) single nucleotide variant RASopathy [RCV002139029] Chr11:119271873 [GRCh38]
Chr11:119142583 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1007+16A>G single nucleotide variant RASopathy [RCV002161717] Chr11:119276150 [GRCh38]
Chr11:119146860 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2037-17T>G single nucleotide variant RASopathy [RCV002100231] Chr11:119296901 [GRCh38]
Chr11:119167611 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2253T>G (p.Gly751=) single nucleotide variant RASopathy [RCV002217051] Chr11:119298359 [GRCh38]
Chr11:119169069 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1206A>G (p.Thr402=) single nucleotide variant RASopathy [RCV002181711] Chr11:119278276 [GRCh38]
Chr11:119148986 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.196-12C>G single nucleotide variant RASopathy [RCV002118358] Chr11:119232436 [GRCh38]
Chr11:119103146 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1914A>G (p.Gly638=) single nucleotide variant RASopathy [RCV002178057] Chr11:119285539 [GRCh38]
Chr11:119156249 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.516A>G (p.Gly172=) single nucleotide variant Cardiovascular phenotype [RCV002337298]|RASopathy [RCV002142309]|not specified [RCV003235676] Chr11:119271807 [GRCh38]
Chr11:119142517 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.618A>G (p.Arg206=) single nucleotide variant RASopathy [RCV002220414] Chr11:119273895 [GRCh38]
Chr11:119144605 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2535T>C (p.Gly845=) single nucleotide variant Cardiovascular phenotype [RCV003161544]|RASopathy [RCV002157755] Chr11:119299595 [GRCh38]
Chr11:119170305 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1128C>T (p.Ser376=) single nucleotide variant RASopathy [RCV002083489] Chr11:119278198 [GRCh38]
Chr11:119148908 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2154-14T>C single nucleotide variant RASopathy [RCV002083519] Chr11:119297370 [GRCh38]
Chr11:119168080 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1008-8C>T single nucleotide variant RASopathy [RCV002219004]|not provided [RCV003426305] Chr11:119277749 [GRCh38]
Chr11:119148459 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1254C>T (p.Phe418=) single nucleotide variant RASopathy [RCV002179510] Chr11:119278536 [GRCh38]
Chr11:119149246 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.981A>G (p.Ala327=) single nucleotide variant RASopathy [RCV002140977] Chr11:119276108 [GRCh38]
Chr11:119146818 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.345T>C (p.Phe115=) single nucleotide variant RASopathy [RCV002104109] Chr11:119232597 [GRCh38]
Chr11:119103307 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.123C>T (p.His41=) single nucleotide variant RASopathy [RCV002179987] Chr11:119206540 [GRCh38]
Chr11:119077250 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1870T>C (p.Leu624=) single nucleotide variant RASopathy [RCV002181550] Chr11:119285495 [GRCh38]
Chr11:119156205 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1008-18G>A single nucleotide variant RASopathy [RCV002155200] Chr11:119277739 [GRCh38]
Chr11:119148449 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1564-20C>T single nucleotide variant RASopathy [RCV002143689] Chr11:119285169 [GRCh38]
Chr11:119155879 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.381G>A (p.Lys127=) single nucleotide variant RASopathy [RCV002218421] Chr11:119232633 [GRCh38]
Chr11:119103343 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1326G>A (p.Leu442=) single nucleotide variant RASopathy [RCV002081302] Chr11:119278608 [GRCh38]
Chr11:119149318 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1638G>A (p.Pro546=) single nucleotide variant CBL-related condition [RCV003958891]|RASopathy [RCV002135867] Chr11:119285263 [GRCh38]
Chr11:119155973 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1680T>C (p.Pro560=) single nucleotide variant RASopathy [RCV002081623] Chr11:119285305 [GRCh38]
Chr11:119156015 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2251+19A>G single nucleotide variant RASopathy [RCV002158181] Chr11:119297500 [GRCh38]
Chr11:119168210 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.726C>T (p.Asp242=) single nucleotide variant RASopathy [RCV002154375] Chr11:119274003 [GRCh38]
Chr11:119144713 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1434G>T (p.Val478=) single nucleotide variant Cardiovascular phenotype [RCV002391228]|RASopathy [RCV002100354] Chr11:119284971 [GRCh38]
Chr11:119155681 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1643C>T (p.Pro548Leu) single nucleotide variant RASopathy [RCV002183624] Chr11:119285268 [GRCh38]
Chr11:119155978 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.1008-10C>T single nucleotide variant RASopathy [RCV002162370] Chr11:119277747 [GRCh38]
Chr11:119148457 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.747+16del deletion RASopathy [RCV002160423] Chr11:119274035 [GRCh38]
Chr11:119144745 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.60G>C (p.Ser20=) single nucleotide variant RASopathy [RCV002100955] Chr11:119206477 [GRCh38]
Chr11:119077187 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1777C>T (p.Arg593Trp) single nucleotide variant CBL-related condition [RCV003896004]|RASopathy [RCV002158679] Chr11:119285402 [GRCh38]
Chr11:119156112 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_005188.4(CBL):c.1941+10A>C single nucleotide variant RASopathy [RCV002155538] Chr11:119285576 [GRCh38]
Chr11:119156286 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2034C>T (p.Ala678=) single nucleotide variant RASopathy [RCV002182712] Chr11:119287944 [GRCh38]
Chr11:119158654 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1245C>G (p.Gly415=) single nucleotide variant RASopathy [RCV002163429] Chr11:119278527 [GRCh38]
Chr11:119149237 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1941+4A>C single nucleotide variant RASopathy [RCV003111013] Chr11:119285570 [GRCh38]
Chr11:119156280 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1142G>A (p.Cys381Tyr) single nucleotide variant RASopathy [RCV003111903] Chr11:119278212 [GRCh38]
Chr11:119148922 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_119077128)_(119077342_?)del deletion RASopathy [RCV003116325] Chr11:119077128..119077342 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_119144558)_(119156296_?)del deletion RASopathy [RCV003116326] Chr11:119144558..119156296 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_119077128)_(119077342_?)dup duplication RASopathy [RCV003116327] Chr11:119077128..119077342 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1596A>G (p.Pro532=) single nucleotide variant RASopathy [RCV003116120] Chr11:119285221 [GRCh38]
Chr11:119155931 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_118967708)_(119103425_?)dup duplication RASopathy [RCV003116328] Chr11:118967708..119103425 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1980C>T (p.Asp660=) single nucleotide variant RASopathy [RCV003115073] Chr11:119287890 [GRCh38]
Chr11:119158600 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_119103138)_(121060609_?)dup duplication not provided [RCV003116365] Chr11:119103138..121060609 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2155G>T (p.Ala719Ser) single nucleotide variant RASopathy [RCV003121802] Chr11:119297385 [GRCh38]
Chr11:119168095 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1563+14C>T single nucleotide variant RASopathy [RCV003118531] Chr11:119285114 [GRCh38]
Chr11:119155824 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_117209303)_(120133495_?)dup duplication not provided [RCV003122151] Chr11:117209303..120133495 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1439G>A (p.Arg480Gln) single nucleotide variant Cardiovascular phenotype [RCV003308077]|Juvenile myelomonocytic leukemia [RCV002248982] Chr11:119284976 [GRCh38]
Chr11:119155686 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_005188.4(CBL):c.1222T>C (p.Trp408Arg) single nucleotide variant not provided [RCV002511143]|not specified [RCV002247055] Chr11:119278292 [GRCh38]
Chr11:119149002 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_005188.4(CBL):c.2111C>T (p.Ser704Phe) single nucleotide variant not provided [RCV003149536] Chr11:119296992 [GRCh38]
Chr11:119167702 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2120C>G (p.Pro707Arg) single nucleotide variant CBL-related disorder [RCV002246192]|RASopathy [RCV003655349] Chr11:119297001 [GRCh38]
Chr11:119167711 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1789A>C (p.Lys597Gln) single nucleotide variant Cardiovascular phenotype [RCV003278439] Chr11:119285414 [GRCh38]
Chr11:119156124 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1007+2T>A single nucleotide variant CBL-related disorder [RCV002274444] Chr11:119276136 [GRCh38]
Chr11:119146846 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_005188.4(CBL):c.2258G>C (p.Gly753Ala) single nucleotide variant not provided [RCV002260836] Chr11:119298364 [GRCh38]
Chr11:119169074 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1192C>T (p.His398Tyr) single nucleotide variant Epilepsy, early-onset [RCV002266595] Chr11:119278262 [GRCh38]
Chr11:119148972 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.664A>G (p.Met222Val) single nucleotide variant Cardiovascular phenotype [RCV002366837]|RASopathy [RCV003776291] Chr11:119273941 [GRCh38]
Chr11:119144651 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1140A>C (p.Leu380=) single nucleotide variant Cardiovascular phenotype [RCV002452061] Chr11:119278210 [GRCh38]
Chr11:119148920 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1061A>G (p.Glu354Gly) single nucleotide variant not provided [RCV002272088] Chr11:119277810 [GRCh38]
Chr11:119148520 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1298del (p.Pro433fs) deletion not specified [RCV003236546] Chr11:119278579 [GRCh38]
Chr11:119149289 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1705_1707del (p.Pro569del) deletion not specified [RCV002266410] Chr11:119285328..119285330 [GRCh38]
Chr11:119156038..119156040 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1103_1108del (p.Tyr368_Glu369del) deletion not provided [RCV002293801] Chr11:119278170..119278175 [GRCh38]
Chr11:119148880..119148885 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_005188.4(CBL):c.1190G>A (p.Gly397Glu) single nucleotide variant Stroke disorder [RCV002287677] Chr11:119278260 [GRCh38]
Chr11:119148970 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.338A>C (p.Glu113Ala) single nucleotide variant Cardiovascular phenotype [RCV002451885]|RASopathy [RCV003099442] Chr11:119232590 [GRCh38]
Chr11:119103300 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.540G>A (p.Arg180=) single nucleotide variant Cardiovascular phenotype [RCV002349415] Chr11:119271831 [GRCh38]
Chr11:119142541 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_005188.4(CBL):c.132C>T (p.Ser44=) single nucleotide variant Cardiovascular phenotype [RCV002385890]|RASopathy [RCV003094976] Chr11:119206549 [GRCh38]
Chr11:119077259 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.261G>A (p.Leu87=) single nucleotide variant Cardiovascular phenotype [RCV002437228] Chr11:119232513 [GRCh38]
Chr11:119103223 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2107C>T (p.Pro703Ser) single nucleotide variant RASopathy [RCV002297759] Chr11:119296988 [GRCh38]
Chr11:119167698 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.546T>G (p.Thr182=) single nucleotide variant Cardiovascular phenotype [RCV002349794]|RASopathy [RCV003539426] Chr11:119271837 [GRCh38]
Chr11:119142547 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2706C>G (p.Ala902=) single nucleotide variant Cardiovascular phenotype [RCV002437415] Chr11:119299766 [GRCh38]
Chr11:119170476 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1109_1111dup (p.Leu370_Tyr371insLeu) duplication Cardiovascular phenotype [RCV002453119] Chr11:119278176..119278177 [GRCh38]
Chr11:119148886..119148887 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_005188.4(CBL):c.121C>T (p.His41Tyr) single nucleotide variant Cardiovascular phenotype [RCV002368777]|RASopathy [RCV003098189] Chr11:119206538 [GRCh38]
Chr11:119077248 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.32C>G (p.Ala11Gly) single nucleotide variant Cardiovascular phenotype [RCV002454680] Chr11:119206449 [GRCh38]
Chr11:119077159 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1878A>G (p.Ser626=) single nucleotide variant Cardiovascular phenotype [RCV002415230]|RASopathy [RCV003539453] Chr11:119285503 [GRCh38]
Chr11:119156213 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1147A>C (p.Ile383Leu) single nucleotide variant RASopathy [RCV002303615] Chr11:119278217 [GRCh38]
Chr11:119148927 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1322G>T (p.Ser441Ile) single nucleotide variant RASopathy [RCV002727042] Chr11:119278604 [GRCh38]
Chr11:119149314 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2124A>G (p.Leu708=) single nucleotide variant Cardiovascular phenotype [RCV002417662]|RASopathy [RCV003539457] Chr11:119297005 [GRCh38]
Chr11:119167715 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2694T>G (p.Ile898Met) single nucleotide variant RASopathy [RCV002303886] Chr11:119299754 [GRCh38]
Chr11:119170464 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.516A>C (p.Gly172=) single nucleotide variant Cardiovascular phenotype [RCV002338363] Chr11:119271807 [GRCh38]
Chr11:119142517 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2252G>C (p.Gly751Ala) single nucleotide variant RASopathy [RCV002304114] Chr11:119298358 [GRCh38]
Chr11:119169068 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2417A>T (p.Asp806Val) single nucleotide variant Cardiovascular phenotype [RCV002450369]|not provided [RCV003146565] Chr11:119298523 [GRCh38]
Chr11:119169233 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.6C>T (p.Ala2=) single nucleotide variant Cardiovascular phenotype [RCV002364774]|RASopathy [RCV003103353] Chr11:119206423 [GRCh38]
Chr11:119077133 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1816A>G (p.Ser606Gly) single nucleotide variant RASopathy [RCV002304837] Chr11:119285441 [GRCh38]
Chr11:119156151 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.440C>T (p.Pro147Leu) single nucleotide variant Cardiovascular phenotype [RCV002333807] Chr11:119232692 [GRCh38]
Chr11:119103402 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1470A>G (p.Gln490=) single nucleotide variant not provided [RCV003144677] Chr11:119285007 [GRCh38]
Chr11:119155717 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1567G>T (p.Ala523Ser) single nucleotide variant Cardiovascular phenotype [RCV002405559] Chr11:119285192 [GRCh38]
Chr11:119155902 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2164T>A (p.Cys722Ser) single nucleotide variant Cardiovascular phenotype [RCV002432637] Chr11:119297394 [GRCh38]
Chr11:119168104 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1630C>T (p.Pro544Ser) single nucleotide variant RASopathy [RCV002294759] Chr11:119285255 [GRCh38]
Chr11:119155965 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2229T>C (p.Ser743=) single nucleotide variant Cardiovascular phenotype [RCV002428196] Chr11:119297459 [GRCh38]
Chr11:119168169 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.326T>C (p.Leu109Pro) single nucleotide variant RASopathy [RCV002296314] Chr11:119232578 [GRCh38]
Chr11:119103288 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.843C>T (p.Leu281=) single nucleotide variant Cardiovascular phenotype [RCV002445935] Chr11:119274927 [GRCh38]
Chr11:119145637 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1524T>C (p.Cys508=) single nucleotide variant Cardiovascular phenotype [RCV002392509] Chr11:119285061 [GRCh38]
Chr11:119155771 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1530C>G (p.Pro510=) single nucleotide variant CBL-related condition [RCV003896170]|Cardiovascular phenotype [RCV002402960] Chr11:119285067 [GRCh38]
Chr11:119155777 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2644C>A (p.Gln882Lys) single nucleotide variant Cardiovascular phenotype [RCV002428645]|RASopathy [RCV003775323] Chr11:119299704 [GRCh38]
Chr11:119170414 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2235C>G (p.Thr745=) single nucleotide variant Cardiovascular phenotype [RCV002428294] Chr11:119297465 [GRCh38]
Chr11:119168175 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1449T>G (p.Ser483=) single nucleotide variant Cardiovascular phenotype [RCV002394534] Chr11:119284986 [GRCh38]
Chr11:119155696 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1896A>G (p.Pro632=) single nucleotide variant Cardiovascular phenotype [RCV002408106] Chr11:119285521 [GRCh38]
Chr11:119156231 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1452A>G (p.Pro484=) single nucleotide variant Cardiovascular phenotype [RCV002394630]|RASopathy [RCV003774337] Chr11:119284989 [GRCh38]
Chr11:119155699 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.18G>T (p.Lys6Asn) single nucleotide variant Cardiovascular phenotype [RCV002408243]|not specified [RCV003230746] Chr11:119206435 [GRCh38]
Chr11:119077145 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2612A>T (p.Tyr871Phe) single nucleotide variant Cardiovascular phenotype [RCV002426340] Chr11:119299672 [GRCh38]
Chr11:119170382 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1110A>C (p.Leu370Phe) single nucleotide variant RASopathy [RCV002299975] Chr11:119278180 [GRCh38]
Chr11:119148890 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2370C>T (p.Leu790=) single nucleotide variant Cardiovascular phenotype [RCV002457771]|RASopathy [RCV003098831] Chr11:119298476 [GRCh38]
Chr11:119169186 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1800A>G (p.Val600=) single nucleotide variant Cardiovascular phenotype [RCV002407903] Chr11:119285425 [GRCh38]
Chr11:119156135 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.650C>T (p.Ser217Phe) single nucleotide variant RASopathy [RCV002300029] Chr11:119273927 [GRCh38]
Chr11:119144637 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2558C>T (p.Ala853Val) single nucleotide variant Cardiovascular phenotype [RCV002455841]|RASopathy [RCV003101970] Chr11:119299618 [GRCh38]
Chr11:119170328 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1616T>C (p.Leu539Pro) single nucleotide variant Cardiovascular phenotype [RCV002394864] Chr11:119285241 [GRCh38]
Chr11:119155951 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1123G>C (p.Gly375Arg) single nucleotide variant not provided [RCV002300865] Chr11:119278193 [GRCh38]
Chr11:119148903 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2319G>A (p.Gly773=) single nucleotide variant Cardiovascular phenotype [RCV002448092] Chr11:119298425 [GRCh38]
Chr11:119169135 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2379C>T (p.Ile793=) single nucleotide variant Cardiovascular phenotype [RCV002457853] Chr11:119298485 [GRCh38]
Chr11:119169195 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.309G>A (p.Glu103=) single nucleotide variant Cardiovascular phenotype [RCV002325912] Chr11:119232561 [GRCh38]
Chr11:119103271 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1358C>T (p.Pro453Leu) single nucleotide variant Cardiovascular phenotype [RCV002383399] Chr11:119278640 [GRCh38]
Chr11:119149350 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.215A>T (p.Asn72Ile) single nucleotide variant Cardiovascular phenotype [RCV002432563] Chr11:119232467 [GRCh38]
Chr11:119103177 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2116A>T (p.Arg706Trp) single nucleotide variant RASopathy [RCV002294763] Chr11:119296997 [GRCh38]
Chr11:119167707 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1773G>A (p.Leu591=) single nucleotide variant Cardiovascular phenotype [RCV002401858] Chr11:119285398 [GRCh38]
Chr11:119156108 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.408A>G (p.Gly136=) single nucleotide variant Cardiovascular phenotype [RCV002323181] Chr11:119232660 [GRCh38]
Chr11:119103370 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.945C>G (p.Leu315=) single nucleotide variant Cardiovascular phenotype [RCV002374036]|RASopathy [RCV003774181] Chr11:119276072 [GRCh38]
Chr11:119146782 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1531T>A (p.Ser511Thr) single nucleotide variant Cardiovascular phenotype [RCV002402983] Chr11:119285068 [GRCh38]
Chr11:119155778 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.454A>C (p.Thr152Pro) single nucleotide variant RASopathy [RCV002300226] Chr11:119271745 [GRCh38]
Chr11:119142455 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1933A>G (p.Thr645Ala) single nucleotide variant Cardiovascular phenotype [RCV002410948] Chr11:119285558 [GRCh38]
Chr11:119156268 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2058G>T (p.Leu686=) single nucleotide variant Cardiovascular phenotype [RCV002421917] Chr11:119296939 [GRCh38]
Chr11:119167649 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.68G>C (p.Gly23Ala) single nucleotide variant Cardiovascular phenotype [RCV002378056]|RASopathy [RCV003103345] Chr11:119206485 [GRCh38]
Chr11:119077195 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.678C>T (p.Ser226=) single nucleotide variant Cardiovascular phenotype [RCV002369392] Chr11:119273955 [GRCh38]
Chr11:119144665 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2217C>A (p.Ser739=) single nucleotide variant Cardiovascular phenotype [RCV002425939] Chr11:119297447 [GRCh38]
Chr11:119168157 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.682A>G (p.Ile228Val) single nucleotide variant Cardiovascular phenotype [RCV002369637] Chr11:119273959 [GRCh38]
Chr11:119144669 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1689C>T (p.Arg563=) single nucleotide variant Cardiovascular phenotype [RCV002406133] Chr11:119285314 [GRCh38]
Chr11:119156024 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2180A>G (p.Asp727Gly) single nucleotide variant Cardiovascular phenotype [RCV002432891]|RASopathy [RCV003101113] Chr11:119297410 [GRCh38]
Chr11:119168120 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.71G>C (p.Gly24Ala) single nucleotide variant Cardiovascular phenotype [RCV002370852]|RASopathy [RCV003776365] Chr11:119206488 [GRCh38]
Chr11:119077198 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1260A>G (p.Arg420=) single nucleotide variant Cardiovascular phenotype [RCV002430439] Chr11:119278542 [GRCh38]
Chr11:119149252 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.727A>T (p.Ile243Phe) single nucleotide variant RASopathy [RCV002298229] Chr11:119274004 [GRCh38]
Chr11:119144714 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.396C>A (p.Leu132=) single nucleotide variant Cardiovascular phenotype [RCV002357710] Chr11:119232648 [GRCh38]
Chr11:119103358 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1463C>A (p.Ala488Asp) single nucleotide variant RASopathy [RCV003013881] Chr11:119285000 [GRCh38]
Chr11:119155710 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.561G>A (p.Ala187=) single nucleotide variant RASopathy [RCV002751129]|not provided [RCV003427502] Chr11:119271852 [GRCh38]
Chr11:119142562 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2293G>A (p.Glu765Lys) single nucleotide variant RASopathy [RCV002775325] Chr11:119298399 [GRCh38]
Chr11:119169109 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1847A>T (p.Asn616Ile) single nucleotide variant RASopathy [RCV002904914] Chr11:119285472 [GRCh38]
Chr11:119156182 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2434+12G>A single nucleotide variant RASopathy [RCV002861976] Chr11:119298552 [GRCh38]
Chr11:119169262 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.443+18C>T single nucleotide variant RASopathy [RCV002862977] Chr11:119232713 [GRCh38]
Chr11:119103423 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1395T>C (p.Asp465=) single nucleotide variant RASopathy [RCV002857953] Chr11:119278677 [GRCh38]
Chr11:119149387 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1742T>G (p.Val581Gly) single nucleotide variant RASopathy [RCV002994863] Chr11:119285367 [GRCh38]
Chr11:119156077 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1958C>T (p.Pro653Leu) single nucleotide variant RASopathy [RCV003032956] Chr11:119287868 [GRCh38]
Chr11:119158578 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2161G>T (p.Asp721Tyr) single nucleotide variant RASopathy [RCV003032986] Chr11:119297391 [GRCh38]
Chr11:119168101 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2251+14del deletion RASopathy [RCV002756317] Chr11:119297495 [GRCh38]
Chr11:119168205 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.869+14C>T single nucleotide variant RASopathy [RCV003076999] Chr11:119274967 [GRCh38]
Chr11:119145677 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2714C>A (p.Ala905Asp) single nucleotide variant RASopathy [RCV002618920] Chr11:119299774 [GRCh38]
Chr11:119170484 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1081A>G (p.Ile361Val) single nucleotide variant RASopathy [RCV002819132] Chr11:119277830 [GRCh38]
Chr11:119148540 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2031T>C (p.Ala677=) single nucleotide variant RASopathy [RCV002819468] Chr11:119287941 [GRCh38]
Chr11:119158651 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.229C>A (p.Leu77Ile) single nucleotide variant not provided [RCV002511383] Chr11:119232481 [GRCh38]
Chr11:119103191 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2530A>G (p.Ser844Gly) single nucleotide variant RASopathy [RCV002862087] Chr11:119299590 [GRCh38]
Chr11:119170300 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1321A>C (p.Ser441Arg) single nucleotide variant RASopathy [RCV003074514]|not provided [RCV003159239] Chr11:119278603 [GRCh38]
Chr11:119149313 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2670C>T (p.Asn890=) single nucleotide variant RASopathy [RCV002837553] Chr11:119299730 [GRCh38]
Chr11:119170440 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.591-17C>T single nucleotide variant RASopathy [RCV002685893] Chr11:119273851 [GRCh38]
Chr11:119144561 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1554T>A (p.Thr518=) single nucleotide variant RASopathy [RCV003073729] Chr11:119285091 [GRCh38]
Chr11:119155801 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2435-9T>C single nucleotide variant RASopathy [RCV003016227] Chr11:119299486 [GRCh38]
Chr11:119170196 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1598dup (p.Leu533fs) duplication RASopathy [RCV003014008] Chr11:119285221..119285222 [GRCh38]
Chr11:119155931..119155932 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2252-12A>T single nucleotide variant RASopathy [RCV002775026] Chr11:119298346 [GRCh38]
Chr11:119169056 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1942-19A>G single nucleotide variant RASopathy [RCV002907784] Chr11:119287833 [GRCh38]
Chr11:119158543 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.643A>G (p.Ile215Val) single nucleotide variant RASopathy [RCV002775978] Chr11:119273920 [GRCh38]
Chr11:119144630 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.594A>T (p.Thr198=) single nucleotide variant RASopathy [RCV002991659] Chr11:119273871 [GRCh38]
Chr11:119144581 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2378T>C (p.Ile793Thr) single nucleotide variant Cardiovascular phenotype [RCV003161908]|RASopathy [RCV002615168] Chr11:119298484 [GRCh38]
Chr11:119169194 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.223C>G (p.Leu75Val) single nucleotide variant RASopathy [RCV002819856] Chr11:119232475 [GRCh38]
Chr11:119103185 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.136C>T (p.His46Tyr) single nucleotide variant RASopathy [RCV002903063]|not provided [RCV003146660] Chr11:119206553 [GRCh38]
Chr11:119077263 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.195+17del deletion RASopathy [RCV002862735] Chr11:119206629 [GRCh38]
Chr11:119077339 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2435-11A>G single nucleotide variant RASopathy [RCV002947461] Chr11:119299484 [GRCh38]
Chr11:119170194 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1198A>G (p.Met400Val) single nucleotide variant RASopathy [RCV002994471] Chr11:119278268 [GRCh38]
Chr11:119148978 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.777C>T (p.Asn259=) single nucleotide variant RASopathy [RCV003034507] Chr11:119274861 [GRCh38]
Chr11:119145571 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1769G>C (p.Trp590Ser) single nucleotide variant RASopathy [RCV003034088] Chr11:119285394 [GRCh38]
Chr11:119156104 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1935C>T (p.Thr645=) single nucleotide variant RASopathy [RCV002617416] Chr11:119285560 [GRCh38]
Chr11:119156270 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1286T>A (p.Ile429Asn) single nucleotide variant RASopathy [RCV002842603] Chr11:119278568 [GRCh38]
Chr11:119149278 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.591-9C>A single nucleotide variant RASopathy [RCV002952373] Chr11:119273859 [GRCh38]
Chr11:119144569 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1432-12del deletion RASopathy [RCV002979649] Chr11:119284952 [GRCh38]
Chr11:119155662 [GRCh37]
Chr11:11q23.3		 benign
NM_005188.4(CBL):c.2056C>G (p.Leu686Val) single nucleotide variant RASopathy [RCV002786077]|not provided [RCV003146630] Chr11:119296937 [GRCh38]
Chr11:119167647 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1431+6A>G single nucleotide variant RASopathy [RCV003053538] Chr11:119278719 [GRCh38]
Chr11:119149429 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2435-13C>A single nucleotide variant RASopathy [RCV002619441] Chr11:119299482 [GRCh38]
Chr11:119170192 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2435-13C>T single nucleotide variant RASopathy [RCV002825583] Chr11:119299482 [GRCh38]
Chr11:119170192 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2687T>C (p.Val896Ala) single nucleotide variant RASopathy [RCV002796319] Chr11:119299747 [GRCh38]
Chr11:119170457 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1039C>T (p.Pro347Ser) single nucleotide variant RASopathy [RCV002740516] Chr11:119277788 [GRCh38]
Chr11:119148498 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1129del (p.Thr377fs) deletion RASopathy [RCV002886707] Chr11:119278199 [GRCh38]
Chr11:119148909 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2310G>A (p.Glu770=) single nucleotide variant RASopathy [RCV002796397] Chr11:119298416 [GRCh38]
Chr11:119169126 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2300C>T (p.Ser767Leu) single nucleotide variant RASopathy [RCV002705625] Chr11:119298406 [GRCh38]
Chr11:119169116 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1151G>A (p.Cys384Tyr) single nucleotide variant RASopathy [RCV002923931] Chr11:119278221 [GRCh38]
Chr11:119148931 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.443+13del deletion RASopathy [RCV002640494] Chr11:119232708 [GRCh38]
Chr11:119103418 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2048T>C (p.Val683Ala) single nucleotide variant Inborn genetic diseases [RCV002869963] Chr11:119296929 [GRCh38]
Chr11:119167639 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1858C>G (p.Leu620Val) single nucleotide variant RASopathy [RCV003081502] Chr11:119285483 [GRCh38]
Chr11:119156193 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1928T>C (p.Leu643Pro) single nucleotide variant Cardiovascular phenotype [RCV003170929]|RASopathy [RCV003035405] Chr11:119285553 [GRCh38]
Chr11:119156263 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.938A>G (p.Asn313Ser) single nucleotide variant RASopathy [RCV003053758]|not provided [RCV003236946] Chr11:119276065 [GRCh38]
Chr11:119146775 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2009C>T (p.Ala670Val) single nucleotide variant RASopathy [RCV002621449] Chr11:119287919 [GRCh38]
Chr11:119158629 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.591-3C>G single nucleotide variant RASopathy [RCV002621768] Chr11:119273865 [GRCh38]
Chr11:119144575 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1327T>C (p.Leu443=) single nucleotide variant RASopathy [RCV002847047] Chr11:119278609 [GRCh38]
Chr11:119149319 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1818T>A (p.Ser606Arg) single nucleotide variant RASopathy [RCV002912507] Chr11:119285443 [GRCh38]
Chr11:119156153 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2146A>G (p.Ser716Gly) single nucleotide variant RASopathy [RCV002659521] Chr11:119297027 [GRCh38]
Chr11:119167737 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.82C>T (p.Leu28Phe) single nucleotide variant RASopathy [RCV002620453] Chr11:119206499 [GRCh38]
Chr11:119077209 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.432T>C (p.Asn144=) single nucleotide variant RASopathy [RCV003054636] Chr11:119232684 [GRCh38]
Chr11:119103394 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1564-12C>T single nucleotide variant RASopathy [RCV003021534] Chr11:119285177 [GRCh38]
Chr11:119155887 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1111T>G (p.Tyr371Asp) single nucleotide variant CBL-related disorder [RCV003314050]|RASopathy [RCV003037435]|not provided [RCV003229929] Chr11:119278181 [GRCh38]
Chr11:119148891 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|uncertain significance
NM_005188.4(CBL):c.2347G>T (p.Ala783Ser) single nucleotide variant RASopathy [RCV003078374] Chr11:119298453 [GRCh38]
Chr11:119169163 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1256G>A (p.Cys419Tyr) single nucleotide variant RASopathy [RCV002637748] Chr11:119278538 [GRCh38]
Chr11:119149248 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2551G>T (p.Ala851Ser) single nucleotide variant RASopathy [RCV002640110] Chr11:119299611 [GRCh38]
Chr11:119170321 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2251+8G>T single nucleotide variant RASopathy [RCV002846757] Chr11:119297489 [GRCh38]
Chr11:119168199 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2483C>T (p.Pro828Leu) single nucleotide variant RASopathy [RCV002695836] Chr11:119299543 [GRCh38]
Chr11:119170253 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.193A>C (p.Lys65Gln) single nucleotide variant not provided [RCV002509976] Chr11:119206610 [GRCh38]
Chr11:119077320 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.127C>T (p.Leu43Phe) single nucleotide variant RASopathy [RCV003080768] Chr11:119206544 [GRCh38]
Chr11:119077254 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.591-14C>T single nucleotide variant RASopathy [RCV002820844] Chr11:119273854 [GRCh38]
Chr11:119144564 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1432-9G>T single nucleotide variant RASopathy [RCV002780949] Chr11:119284960 [GRCh38]
Chr11:119155670 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2701_2703del (p.Pro901del) deletion RASopathy [RCV002913434] Chr11:119299759..119299761 [GRCh38]
Chr11:119170469..119170471 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.531C>T (p.Asp177=) single nucleotide variant RASopathy [RCV002866566] Chr11:119271822 [GRCh38]
Chr11:119142532 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2638A>C (p.Ile880Leu) single nucleotide variant Inborn genetic diseases [RCV002797432] Chr11:119299698 [GRCh38]
Chr11:119170408 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2435-8del deletion RASopathy [RCV003055256] Chr11:119299485 [GRCh38]
Chr11:119170195 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.354T>C (p.Phe118=) single nucleotide variant RASopathy [RCV002591107] Chr11:119232606 [GRCh38]
Chr11:119103316 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1919C>T (p.Thr640Met) single nucleotide variant RASopathy [RCV002637225] Chr11:119285544 [GRCh38]
Chr11:119156254 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1198A>T (p.Met400Leu) single nucleotide variant RASopathy [RCV003036260] Chr11:119278268 [GRCh38]
Chr11:119148978 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1436A>T (p.Glu479Val) single nucleotide variant RASopathy [RCV002979951] Chr11:119284973 [GRCh38]
Chr11:119155683 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2309A>G (p.Glu770Gly) single nucleotide variant RASopathy [RCV002638015] Chr11:119298415 [GRCh38]
Chr11:119169125 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2458C>T (p.Pro820Ser) single nucleotide variant RASopathy [RCV002979784] Chr11:119299518 [GRCh38]
Chr11:119170228 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2260A>G (p.Asn754Asp) single nucleotide variant RASopathy [RCV002761708] Chr11:119298366 [GRCh38]
Chr11:119169076 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1198A>C (p.Met400Leu) single nucleotide variant RASopathy [RCV002979141] Chr11:119278268 [GRCh38]
Chr11:119148978 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.149C>T (p.Thr50Met) single nucleotide variant RASopathy [RCV002766567] Chr11:119206566 [GRCh38]
Chr11:119077276 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2251+16G>A single nucleotide variant RASopathy [RCV002933212] Chr11:119297497 [GRCh38]
Chr11:119168207 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1227+2T>C single nucleotide variant RASopathy [RCV003024941] Chr11:119278299 [GRCh38]
Chr11:119149009 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1431+10C>T single nucleotide variant CBL-related condition [RCV003963430]|RASopathy [RCV002932744]|not specified [RCV003388133] Chr11:119278723 [GRCh38]
Chr11:119149433 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2252-17C>G single nucleotide variant RASopathy [RCV002745732] Chr11:119298341 [GRCh38]
Chr11:119169051 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2467C>T (p.Pro823Ser) single nucleotide variant RASopathy [RCV002830027] Chr11:119299527 [GRCh38]
Chr11:119170237 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.451C>T (p.Leu151=) single nucleotide variant RASopathy [RCV002575925] Chr11:119271742 [GRCh38]
Chr11:119142452 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.51C>T (p.Ser17=) single nucleotide variant RASopathy [RCV002700832] Chr11:119206468 [GRCh38]
Chr11:119077178 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.443+9G>A single nucleotide variant RASopathy [RCV002700925] Chr11:119232704 [GRCh38]
Chr11:119103414 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.121_129dup (p.Leu43_Ser44insHisHisLeu) duplication RASopathy [RCV002875789] Chr11:119206536..119206537 [GRCh38]
Chr11:119077246..119077247 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.143C>T (p.Pro48Leu) single nucleotide variant RASopathy [RCV002958096] Chr11:119206560 [GRCh38]
Chr11:119077270 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.444-5del deletion RASopathy [RCV002959092] Chr11:119271728 [GRCh38]
Chr11:119142438 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1499T>C (p.Leu500Pro) single nucleotide variant RASopathy [RCV003058974] Chr11:119285036 [GRCh38]
Chr11:119155746 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.195+17G>A single nucleotide variant RASopathy [RCV002876509] Chr11:119206629 [GRCh38]
Chr11:119077339 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.372G>C (p.Lys124Asn) single nucleotide variant RASopathy [RCV002805688] Chr11:119232624 [GRCh38]
Chr11:119103334 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2120C>T (p.Pro707Leu) single nucleotide variant RASopathy [RCV002876618] Chr11:119297001 [GRCh38]
Chr11:119167711 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2443G>A (p.Glu815Lys) single nucleotide variant RASopathy [RCV003005852] Chr11:119299503 [GRCh38]
Chr11:119170213 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2377A>G (p.Ile793Val) single nucleotide variant RASopathy [RCV003081971] Chr11:119298483 [GRCh38]
Chr11:119169193 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.287G>A (p.Arg96His) single nucleotide variant RASopathy [RCV002642255] Chr11:119232539 [GRCh38]
Chr11:119103249 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1438C>T (p.Arg480Trp) single nucleotide variant not provided [RCV002508727] Chr11:119284975 [GRCh38]
Chr11:119155685 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1655A>G (p.Tyr552Cys) single nucleotide variant RASopathy [RCV002765990] Chr11:119285280 [GRCh38]
Chr11:119155990 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.324A>G (p.Thr108=) single nucleotide variant RASopathy [RCV002765865] Chr11:119232576 [GRCh38]
Chr11:119103286 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.870-13T>C single nucleotide variant RASopathy [RCV002766341] Chr11:119275984 [GRCh38]
Chr11:119146694 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1A>G (p.Met1Val) single nucleotide variant RASopathy [RCV002766012] Chr11:119206418 [GRCh38]
Chr11:119077128 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.263T>C (p.Leu88Pro) single nucleotide variant RASopathy [RCV003024973] Chr11:119232515 [GRCh38]
Chr11:119103225 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2065G>T (p.Gly689Trp) single nucleotide variant RASopathy [RCV002664054] Chr11:119296946 [GRCh38]
Chr11:119167656 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2494_2495del (p.Asn832fs) deletion RASopathy [RCV002852005] Chr11:119299554..119299555 [GRCh38]
Chr11:119170264..119170265 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.880C>T (p.Arg294Trp) single nucleotide variant CBL-related condition [RCV003404080]|RASopathy [RCV003084225] Chr11:119276007 [GRCh38]
Chr11:119146717 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1246T>C (p.Cys416Arg) single nucleotide variant RASopathy [RCV002711982] Chr11:119278528 [GRCh38]
Chr11:119149238 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1299G>C (p.Pro433=) single nucleotide variant RASopathy [RCV002853074] Chr11:119278581 [GRCh38]
Chr11:119149291 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1563+19C>T single nucleotide variant RASopathy [RCV003083548] Chr11:119285119 [GRCh38]
Chr11:119155829 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.686A>G (p.Asp229Gly) single nucleotide variant RASopathy [RCV003057744] Chr11:119273963 [GRCh38]
Chr11:119144673 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2231T>G (p.Ile744Ser) single nucleotide variant RASopathy [RCV002957196] Chr11:119297461 [GRCh38]
Chr11:119168171 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1521A>T (p.Val507=) single nucleotide variant RASopathy [RCV002890437] Chr11:119285058 [GRCh38]
Chr11:119155768 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2435-7C>A single nucleotide variant RASopathy [RCV003055834] Chr11:119299488 [GRCh38]
Chr11:119170198 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.538C>T (p.Arg180Trp) single nucleotide variant RASopathy [RCV002954136] Chr11:119271829 [GRCh38]
Chr11:119142539 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2470C>T (p.Pro824Ser) single nucleotide variant RASopathy [RCV002802103] Chr11:119299530 [GRCh38]
Chr11:119170240 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1442C>T (p.Pro481Leu) single nucleotide variant RASopathy [RCV002575000] Chr11:119284979 [GRCh38]
Chr11:119155689 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1942-16T>C single nucleotide variant RASopathy [RCV002876349] Chr11:119287836 [GRCh38]
Chr11:119158546 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1349C>T (p.Ala450Val) single nucleotide variant Inborn genetic diseases [RCV002893594]|RASopathy [RCV003539465] Chr11:119278631 [GRCh38]
Chr11:119149341 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1563+15A>G single nucleotide variant RASopathy [RCV003056567] Chr11:119285115 [GRCh38]
Chr11:119155825 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2396C>T (p.Ser799Phe) single nucleotide variant RASopathy [RCV003056048] Chr11:119298502 [GRCh38]
Chr11:119169212 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1564-11T>G single nucleotide variant RASopathy [RCV003083113] Chr11:119285178 [GRCh38]
Chr11:119155888 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1167G>C (p.Lys389Asn) single nucleotide variant RASopathy [RCV002790180] Chr11:119278237 [GRCh38]
Chr11:119148947 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2251+13T>G single nucleotide variant RASopathy [RCV002700588] Chr11:119297494 [GRCh38]
Chr11:119168204 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2356del (p.Ala786fs) deletion RASopathy [RCV002872453] Chr11:119298461 [GRCh38]
Chr11:119169171 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2153+5G>C single nucleotide variant RASopathy [RCV002851970] Chr11:119297039 [GRCh38]
Chr11:119167749 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1737C>T (p.Pro579=) single nucleotide variant RASopathy [RCV002766254] Chr11:119285362 [GRCh38]
Chr11:119156072 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.748-13C>A single nucleotide variant RASopathy [RCV002853324] Chr11:119274819 [GRCh38]
Chr11:119145529 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1259G>C (p.Arg420Pro) single nucleotide variant RASopathy [RCV002929074] Chr11:119278541 [GRCh38]
Chr11:119149251 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.102G>A (p.Gln34=) single nucleotide variant RASopathy [RCV002875825] Chr11:119206519 [GRCh38]
Chr11:119077229 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.251T>C (p.Ile84Thr) single nucleotide variant RASopathy [RCV002593944] Chr11:119232503 [GRCh38]
Chr11:119103213 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.787G>A (p.Val263Ile) single nucleotide variant Inborn genetic diseases [RCV002916789] Chr11:119274871 [GRCh38]
Chr11:119145581 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.952A>G (p.Ile318Val) single nucleotide variant RASopathy [RCV002663677] Chr11:119276079 [GRCh38]
Chr11:119146789 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1956C>T (p.Ser652=) single nucleotide variant RASopathy [RCV002871678] Chr11:119287866 [GRCh38]
Chr11:119158576 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1299G>T (p.Pro433=) single nucleotide variant RASopathy [RCV002931973] Chr11:119278581 [GRCh38]
Chr11:119149291 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2573C>G (p.Ser858Cys) single nucleotide variant RASopathy [RCV002962046] Chr11:119299633 [GRCh38]
Chr11:119170343 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1570T>G (p.Ser524Ala) single nucleotide variant RASopathy [RCV003011280] Chr11:119285195 [GRCh38]
Chr11:119155905 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1934C>T (p.Thr645Ile) single nucleotide variant RASopathy [RCV002720201] Chr11:119285559 [GRCh38]
Chr11:119156269 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2554A>C (p.Thr852Pro) single nucleotide variant RASopathy [RCV003065146] Chr11:119299614 [GRCh38]
Chr11:119170324 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1710C>T (p.Gly570=) single nucleotide variant RASopathy [RCV002895629] Chr11:119285335 [GRCh38]
Chr11:119156045 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1699_1701dup (p.Cys567_Thr568insCys) duplication RASopathy [RCV003031408] Chr11:119285322..119285323 [GRCh38]
Chr11:119156032..119156033 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2172G>A (p.Gln724=) single nucleotide variant RASopathy [RCV002648169] Chr11:119297402 [GRCh38]
Chr11:119168112 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1254C>G (p.Phe418Leu) single nucleotide variant RASopathy [RCV003062467] Chr11:119278536 [GRCh38]
Chr11:119149246 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.117C>T (p.His39=) single nucleotide variant RASopathy [RCV002602388] Chr11:119206534 [GRCh38]
Chr11:119077244 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.385A>G (p.Thr129Ala) single nucleotide variant Cardiovascular phenotype [RCV003170973]|RASopathy [RCV003064434] Chr11:119232637 [GRCh38]
Chr11:119103347 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2106T>C (p.Thr702=) single nucleotide variant RASopathy [RCV003087726] Chr11:119296987 [GRCh38]
Chr11:119167697 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2236G>A (p.Glu746Lys) single nucleotide variant RASopathy [RCV003031496] Chr11:119297466 [GRCh38]
Chr11:119168176 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1633C>G (p.Pro545Ala) single nucleotide variant Cardiovascular phenotype [RCV003167793]|RASopathy [RCV002806741] Chr11:119285258 [GRCh38]
Chr11:119155968 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.54G>T (p.Gly18=) single nucleotide variant RASopathy [RCV003027613] Chr11:119206471 [GRCh38]
Chr11:119077181 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2569_2574dup (p.Ser858_Ser859insLeuSer) duplication RASopathy [RCV003087617] Chr11:119299628..119299629 [GRCh38]
Chr11:119170338..119170339 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.444-3T>C single nucleotide variant RASopathy [RCV003047008] Chr11:119271732 [GRCh38]
Chr11:119142442 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1096-5C>T single nucleotide variant RASopathy [RCV002598646] Chr11:119278161 [GRCh38]
Chr11:119148871 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2037-16A>C single nucleotide variant RASopathy [RCV002647839] Chr11:119296902 [GRCh38]
Chr11:119167612 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2536C>T (p.Pro846Ser) single nucleotide variant RASopathy [RCV002630225] Chr11:119299596 [GRCh38]
Chr11:119170306 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2251+6T>A single nucleotide variant RASopathy [RCV002833814] Chr11:119297487 [GRCh38]
Chr11:119168197 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.106C>A (p.His36Asn) single nucleotide variant RASopathy [RCV002627763] Chr11:119206523 [GRCh38]
Chr11:119077233 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1534del (p.Ser512fs) deletion RASopathy [RCV002899220] Chr11:119285070 [GRCh38]
Chr11:119155780 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1096-26_1099inv inversion RASopathy [RCV002810236] Chr11:119278140..119278169 [GRCh38]
Chr11:119148850..119148879 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1385G>A (p.Arg462Gln) single nucleotide variant RASopathy [RCV002933535] Chr11:119278667 [GRCh38]
Chr11:119149377 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2167G>A (p.Asp723Asn) single nucleotide variant RASopathy [RCV002770129] Chr11:119297397 [GRCh38]
Chr11:119168107 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1797A>G (p.Pro599=) single nucleotide variant RASopathy [RCV003086131] Chr11:119285422 [GRCh38]
Chr11:119156132 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1484C>A (p.Pro495Gln) single nucleotide variant RASopathy [RCV002597731] Chr11:119285021 [GRCh38]
Chr11:119155731 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1227+5G>C single nucleotide variant RASopathy [RCV002579748] Chr11:119278302 [GRCh38]
Chr11:119149012 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2381C>G (p.Ser794Cys) single nucleotide variant RASopathy [RCV003064975] Chr11:119298487 [GRCh38]
Chr11:119169197 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.444-10T>C single nucleotide variant RASopathy [RCV003009392] Chr11:119271725 [GRCh38]
Chr11:119142435 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1563+1G>A single nucleotide variant RASopathy [RCV002580317] Chr11:119285101 [GRCh38]
Chr11:119155811 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1432-5C>G single nucleotide variant RASopathy [RCV002966498] Chr11:119284964 [GRCh38]
Chr11:119155674 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2095G>A (p.Glu699Lys) single nucleotide variant RASopathy [RCV002632198] Chr11:119296976 [GRCh38]
Chr11:119167686 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2252-19A>G single nucleotide variant RASopathy [RCV002962845] Chr11:119298339 [GRCh38]
Chr11:119169049 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.927T>C (p.Thr309=) single nucleotide variant RASopathy [RCV002805982] Chr11:119276054 [GRCh38]
Chr11:119146764 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1563+22_1563+30del deletion RASopathy [RCV002962183] Chr11:119285120..119285128 [GRCh38]
Chr11:119155830..119155838 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1517G>A (p.Arg506Gln) single nucleotide variant RASopathy [RCV002895242] Chr11:119285054 [GRCh38]
Chr11:119155764 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.150G>C (p.Thr50=) single nucleotide variant RASopathy [RCV003011038] Chr11:119206567 [GRCh38]
Chr11:119077277 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2453A>C (p.Gln818Pro) single nucleotide variant RASopathy [RCV002922375] Chr11:119299513 [GRCh38]
Chr11:119170223 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2684T>C (p.Phe895Ser) single nucleotide variant RASopathy [RCV003029638]|not specified [RCV003388142] Chr11:119299744 [GRCh38]
Chr11:119170454 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2252-13C>T single nucleotide variant RASopathy [RCV002578479] Chr11:119298345 [GRCh38]
Chr11:119169055 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1875C>T (p.Pro625=) single nucleotide variant Cardiovascular phenotype [RCV003167555]|RASopathy [RCV002653146] Chr11:119285500 [GRCh38]
Chr11:119156210 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2157A>G (p.Ala719=) single nucleotide variant RASopathy [RCV002814658] Chr11:119297387 [GRCh38]
Chr11:119168097 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1953C>A (p.Ser651Arg) single nucleotide variant RASopathy [RCV003050136] Chr11:119287863 [GRCh38]
Chr11:119158573 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1746C>T (p.Pro582=) single nucleotide variant RASopathy [RCV003068007] Chr11:119285371 [GRCh38]
Chr11:119156081 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1547T>C (p.Leu516Pro) single nucleotide variant CBL-related condition [RCV003410112]|RASopathy [RCV002603725] Chr11:119285084 [GRCh38]
Chr11:119155794 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.39C>T (p.Gly13=) single nucleotide variant RASopathy [RCV002653567] Chr11:119206456 [GRCh38]
Chr11:119077166 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2428A>G (p.Thr810Ala) single nucleotide variant RASopathy [RCV003068740] Chr11:119298534 [GRCh38]
Chr11:119169244 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1097A>G (p.Glu366Gly) single nucleotide variant RASopathy [RCV003049569] Chr11:119278167 [GRCh38]
Chr11:119148877 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2252-15C>T single nucleotide variant RASopathy [RCV002942902] Chr11:119298343 [GRCh38]
Chr11:119169053 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1008-11A>C single nucleotide variant RASopathy [RCV003068233] Chr11:119277746 [GRCh38]
Chr11:119148456 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1007+19C>T single nucleotide variant RASopathy [RCV002658294] Chr11:119276153 [GRCh38]
Chr11:119146863 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.195+19G>T single nucleotide variant RASopathy [RCV002606472] Chr11:119206631 [GRCh38]
Chr11:119077341 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.735C>T (p.Thr245=) single nucleotide variant RASopathy [RCV002609430] Chr11:119274012 [GRCh38]
Chr11:119144722 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.185T>A (p.Leu62His) single nucleotide variant RASopathy [RCV003068451]|not provided [RCV003427555] Chr11:119206602 [GRCh38]
Chr11:119077312 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1831G>C (p.Gly611Arg) single nucleotide variant CBL-related disorder [RCV003985111]|RASopathy [RCV003052388] Chr11:119285456 [GRCh38]
Chr11:119156166 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.747+8A>T single nucleotide variant RASopathy [RCV002654864]|not specified [RCV003155517] Chr11:119274032 [GRCh38]
Chr11:119144742 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_005188.4(CBL):c.1781C>T (p.Pro594Leu) single nucleotide variant RASopathy [RCV002586922] Chr11:119285406 [GRCh38]
Chr11:119156116 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2599C>T (p.Gln867Ter) single nucleotide variant RASopathy [RCV002586994] Chr11:119299659 [GRCh38]
Chr11:119170369 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1401C>A (p.Leu467=) single nucleotide variant RASopathy [RCV002943274] Chr11:119278683 [GRCh38]
Chr11:119149393 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1585A>G (p.Lys529Glu) single nucleotide variant RASopathy [RCV002654301] Chr11:119285210 [GRCh38]
Chr11:119155920 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.321G>A (p.Glu107=) single nucleotide variant RASopathy [RCV002587157] Chr11:119232573 [GRCh38]
Chr11:119103283 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1125C>T (p.Gly375=) single nucleotide variant RASopathy [RCV002583867] Chr11:119278195 [GRCh38]
Chr11:119148905 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2434+18T>C single nucleotide variant RASopathy [RCV003073440] Chr11:119298558 [GRCh38]
Chr11:119169268 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1248T>C (p.Cys416=) single nucleotide variant Cardiovascular phenotype [RCV003289529]|RASopathy [RCV002583701] Chr11:119278530 [GRCh38]
Chr11:119149240 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1096-18A>G single nucleotide variant RASopathy [RCV002585398] Chr11:119278148 [GRCh38]
Chr11:119148858 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1792G>A (p.Val598Ile) single nucleotide variant RASopathy [RCV003070062] Chr11:119285417 [GRCh38]
Chr11:119156127 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.646A>G (p.Ser216Gly) single nucleotide variant CBL-related condition [RCV003403869]|RASopathy [RCV002603917] Chr11:119273923 [GRCh38]
Chr11:119144633 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2273C>T (p.Ala758Val) single nucleotide variant RASopathy [RCV002612030] Chr11:119298379 [GRCh38]
Chr11:119169089 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1847A>G (p.Asn616Ser) single nucleotide variant Cardiovascular phenotype [RCV003161744]|RASopathy [RCV003072635] Chr11:119285472 [GRCh38]
Chr11:119156182 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2252-12A>G single nucleotide variant RASopathy [RCV003068970] Chr11:119298346 [GRCh38]
Chr11:119169056 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.748-18T>C single nucleotide variant RASopathy [RCV002612612] Chr11:119274814 [GRCh38]
Chr11:119145524 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1091_1095+4del deletion not provided [RCV003144673] Chr11:119277836..119277844 [GRCh38]
Chr11:119148546..119148554 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1739C>T (p.Pro580Leu) single nucleotide variant not specified [RCV003155741] Chr11:119285364 [GRCh38]
Chr11:119156074 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2659A>G (p.Met887Val) single nucleotide variant not provided [RCV003144675] Chr11:119299719 [GRCh38]
Chr11:119170429 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2680G>T (p.Glu894Ter) single nucleotide variant not provided [RCV003144676] Chr11:119299740 [GRCh38]
Chr11:119170450 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.*6886G>A single nucleotide variant not provided [RCV003144674] Chr11:119306667 [GRCh38]
Chr11:119177377 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1113C>T (p.Tyr371=) single nucleotide variant Cardiovascular phenotype [RCV003278433] Chr11:119278183 [GRCh38]
Chr11:119148893 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.31G>T (p.Ala11Ser) single nucleotide variant Cardiovascular phenotype [RCV003177770] Chr11:119206448 [GRCh38]
Chr11:119077158 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1834A>G (p.Arg612Gly) single nucleotide variant Cardiovascular phenotype [RCV003177772]|RASopathy [RCV003655406] Chr11:119285459 [GRCh38]
Chr11:119156169 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.115C>T (p.His39Tyr) single nucleotide variant Inborn genetic diseases [RCV003211605] Chr11:119206532 [GRCh38]
Chr11:119077242 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.500G>A (p.Gly167Glu) single nucleotide variant not provided [RCV003214179] Chr11:119271791 [GRCh38]
Chr11:119142501 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.481A>G (p.Met161Val) single nucleotide variant not provided [RCV003227142] Chr11:119271772 [GRCh38]
Chr11:119142482 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1178T>A (p.Ile393Asn) single nucleotide variant not provided [RCV003322021] Chr11:119278248 [GRCh38]
Chr11:119148958 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_005188.4(CBL):c.791C>T (p.Thr264Ile) single nucleotide variant not specified [RCV003324127] Chr11:119274875 [GRCh38]
Chr11:119145585 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2154-8T>C single nucleotide variant not specified [RCV003324126] Chr11:119297376 [GRCh38]
Chr11:119168086 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.773G>A (p.Trp258Ter) single nucleotide variant not provided [RCV003329798] Chr11:119274857 [GRCh38]
Chr11:119145567 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1132T>C (p.Phe378Leu) single nucleotide variant Cardiovascular phenotype [RCV003350626] Chr11:119278202 [GRCh38]
Chr11:119148912 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2654T>C (p.Ile885Thr) single nucleotide variant CBL-related disorder [RCV003333400]|Juvenile myelomonocytic leukemia [RCV003333399] Chr11:119299714 [GRCh38]
Chr11:119170424 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1601C>T (p.Pro534Leu) single nucleotide variant Cardiovascular phenotype [RCV003350629] Chr11:119285226 [GRCh38]
Chr11:119155936 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1401C>T (p.Leu467=) single nucleotide variant Cardiovascular phenotype [RCV003350627] Chr11:119278683 [GRCh38]
Chr11:119149393 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.712G>A (p.Val238Ile) single nucleotide variant Cardiovascular phenotype [RCV003350628] Chr11:119273989 [GRCh38]
Chr11:119144699 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2282A>G (p.Asn761Ser) single nucleotide variant RASopathy [RCV003873570] Chr11:119298388 [GRCh38]
Chr11:119169098 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2482C>G (p.Pro828Ala) single nucleotide variant CBL-related disorder [RCV003447873] Chr11:119299542 [GRCh38]
Chr11:119170252 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
NM_005188.4(CBL):c.195+6902A>G single nucleotide variant CBL-related disorder [RCV003448571] Chr11:119213514 [GRCh38]
Chr11:119084224 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1220C>T (p.Ser407Phe) single nucleotide variant RASopathy [RCV003778482]|not provided [RCV003442568] Chr11:119278290 [GRCh38]
Chr11:119149000 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1727A>G (p.Asp576Gly) single nucleotide variant not provided [RCV003482038] Chr11:119285352 [GRCh38]
Chr11:119156062 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2434+5G>A single nucleotide variant CBL-related condition [RCV003408468] Chr11:119298545 [GRCh38]
Chr11:119169255 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1984C>T (p.Pro662Ser) single nucleotide variant CBL-related condition [RCV003412186] Chr11:119287894 [GRCh38]
Chr11:119158604 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1931A>T (p.Asp644Val) single nucleotide variant not provided [RCV003442359] Chr11:119285556 [GRCh38]
Chr11:119156266 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.393C>T (p.Ser131=) single nucleotide variant not provided [RCV003424846] Chr11:119232645 [GRCh38]
Chr11:119103355 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.346A>G (p.Arg116Gly) single nucleotide variant CBL-related condition [RCV003404557]|RASopathy [RCV003539490] Chr11:119232598 [GRCh38]
Chr11:119103308 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1126T>C (p.Ser376Pro) single nucleotide variant CBL-related disorder [RCV003444435]|RASopathy [RCV003778488] Chr11:119278196 [GRCh38]
Chr11:119148906 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.590+3A>C single nucleotide variant CBL-related condition [RCV003397264]|RASopathy [RCV003778175] Chr11:119271884 [GRCh38]
Chr11:119142594 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1142G>T (p.Cys381Phe) single nucleotide variant not provided [RCV003441579] Chr11:119278212 [GRCh38]
Chr11:119148922 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_005188.4(CBL):c.1888C>T (p.Pro630Ser) single nucleotide variant CBL-related condition [RCV003397690] Chr11:119285513 [GRCh38]
Chr11:119156223 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1986del (p.Ile664fs) deletion CBL-related condition [RCV003416920] Chr11:119287893 [GRCh38]
Chr11:119158603 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.729C>T (p.Ile243=) single nucleotide variant CBL-related condition [RCV003946523]|RASopathy [RCV003778380]|not provided [RCV003424847] Chr11:119274006 [GRCh38]
Chr11:119144716 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.392G>A (p.Ser131Asn) single nucleotide variant not provided [RCV003424845] Chr11:119232644 [GRCh38]
Chr11:119103354 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1229A>T (p.Glu410Val) single nucleotide variant not provided [RCV003441210] Chr11:119278511 [GRCh38]
Chr11:119149221 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.457A>G (p.Lys153Glu) single nucleotide variant RASopathy [RCV003654528] Chr11:119271748 [GRCh38]
Chr11:119142458 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2252-1G>C single nucleotide variant not provided [RCV003490540] Chr11:119298357 [GRCh38]
Chr11:119169067 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2406G>A (p.Trp802Ter) single nucleotide variant RASopathy [RCV003654471] Chr11:119298512 [GRCh38]
Chr11:119169222 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1173A>G (p.Val391=) single nucleotide variant RASopathy [RCV003877220] Chr11:119278243 [GRCh38]
Chr11:119148953 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1942-20C>T single nucleotide variant RASopathy [RCV003654462] Chr11:119287832 [GRCh38]
Chr11:119158542 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1096-17A>T single nucleotide variant RASopathy [RCV003654509] Chr11:119278149 [GRCh38]
Chr11:119148859 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.455C>A (p.Thr152Asn) single nucleotide variant RASopathy [RCV003830540] Chr11:119271746 [GRCh38]
Chr11:119142456 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1431+15T>C single nucleotide variant RASopathy [RCV003879323] Chr11:119278728 [GRCh38]
Chr11:119149438 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1406T>C (p.Met469Thr) single nucleotide variant RASopathy [RCV003877714] Chr11:119278688 [GRCh38]
Chr11:119149398 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1230A>G (p.Glu410=) single nucleotide variant RASopathy [RCV003879334] Chr11:119278512 [GRCh38]
Chr11:119149222 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.93C>T (p.Asp31=) single nucleotide variant RASopathy [RCV003879836] Chr11:119206510 [GRCh38]
Chr11:119077220 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.929C>G (p.Ala310Gly) single nucleotide variant RASopathy [RCV003878605] Chr11:119276056 [GRCh38]
Chr11:119146766 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2004A>G (p.Ser668=) single nucleotide variant RASopathy [RCV003881882] Chr11:119287914 [GRCh38]
Chr11:119158624 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2542G>T (p.Ala848Ser) single nucleotide variant RASopathy [RCV003879006] Chr11:119299602 [GRCh38]
Chr11:119170312 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.765C>G (p.Leu255=) single nucleotide variant RASopathy [RCV003655885] Chr11:119274849 [GRCh38]
Chr11:119145559 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.213_214del (p.Asn72fs) deletion RASopathy [RCV003655909] Chr11:119232464..119232465 [GRCh38]
Chr11:119103174..119103175 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1197C>A (p.Leu399=) single nucleotide variant RASopathy [RCV003655937] Chr11:119278267 [GRCh38]
Chr11:119148977 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2418T>G (p.Asp806Glu) single nucleotide variant RASopathy [RCV003655941] Chr11:119298524 [GRCh38]
Chr11:119169234 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2710_2711del (p.Val904fs) deletion RASopathy [RCV003656047] Chr11:119299769..119299770 [GRCh38]
Chr11:119170479..119170480 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1951A>G (p.Ser651Gly) single nucleotide variant RASopathy [RCV003656061] Chr11:119287861 [GRCh38]
Chr11:119158571 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1905T>C (p.Pro635=) single nucleotide variant RASopathy [RCV003656048] Chr11:119285530 [GRCh38]
Chr11:119156240 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.438G>T (p.Gln146His) single nucleotide variant RASopathy [RCV003654574] Chr11:119232690 [GRCh38]
Chr11:119103400 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2152C>T (p.Arg718Ter) single nucleotide variant RASopathy [RCV003849399] Chr11:119297033 [GRCh38]
Chr11:119167743 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2144A>C (p.Gln715Pro) single nucleotide variant RASopathy [RCV003654620] Chr11:119297025 [GRCh38]
Chr11:119167735 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1530C>T (p.Pro510=) single nucleotide variant RASopathy [RCV003654679] Chr11:119285067 [GRCh38]
Chr11:119155777 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1912G>A (p.Gly638Arg) single nucleotide variant RASopathy [RCV003654690] Chr11:119285537 [GRCh38]
Chr11:119156247 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1227+17C>A single nucleotide variant RASopathy [RCV003654622] Chr11:119278314 [GRCh38]
Chr11:119149024 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.688C>T (p.Leu230=) single nucleotide variant RASopathy [RCV003654778] Chr11:119273965 [GRCh38]
Chr11:119144675 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2036+14A>C single nucleotide variant RASopathy [RCV003654766] Chr11:119287960 [GRCh38]
Chr11:119158670 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1120A>T (p.Met374Leu) single nucleotide variant RASopathy [RCV003654782] Chr11:119278190 [GRCh38]
Chr11:119148900 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2015C>A (p.Ala672Asp) single nucleotide variant RASopathy [RCV003654857] Chr11:119287925 [GRCh38]
Chr11:119158635 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.710C>A (p.Ser237Ter) single nucleotide variant RASopathy [RCV003654829] Chr11:119273987 [GRCh38]
Chr11:119144697 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1872G>T (p.Leu624Phe) single nucleotide variant RASopathy [RCV003654873] Chr11:119285497 [GRCh38]
Chr11:119156207 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.258C>T (p.Asp86=) single nucleotide variant RASopathy [RCV003654893] Chr11:119232510 [GRCh38]
Chr11:119103220 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.619C>A (p.Gln207Lys) single nucleotide variant RASopathy [RCV003655460] Chr11:119273896 [GRCh38]
Chr11:119144606 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.438G>C (p.Gln146His) single nucleotide variant RASopathy [RCV003655537] Chr11:119232690 [GRCh38]
Chr11:119103400 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2452C>T (p.Gln818Ter) single nucleotide variant RASopathy [RCV003655628] Chr11:119299512 [GRCh38]
Chr11:119170222 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.37G>A (p.Gly13Ser) single nucleotide variant RASopathy [RCV003655641] Chr11:119206454 [GRCh38]
Chr11:119077164 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2135A>G (p.Asp712Gly) single nucleotide variant RASopathy [RCV003655653] Chr11:119297016 [GRCh38]
Chr11:119167726 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1247G>A (p.Cys416Tyr) single nucleotide variant RASopathy [RCV003655629] Chr11:119278529 [GRCh38]
Chr11:119149239 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.239G>A (p.Ser80Asn) single nucleotide variant RASopathy [RCV003655686] Chr11:119232491 [GRCh38]
Chr11:119103201 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.838C>G (p.Arg280Gly) single nucleotide variant RASopathy [RCV003655704] Chr11:119274922 [GRCh38]
Chr11:119145632 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1857A>T (p.Ser619=) single nucleotide variant RASopathy [RCV003655751] Chr11:119285482 [GRCh38]
Chr11:119156192 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1457C>T (p.Ser486Phe) single nucleotide variant RASopathy [RCV003655772] Chr11:119284994 [GRCh38]
Chr11:119155704 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2201T>C (p.Met734Thr) single nucleotide variant RASopathy [RCV003655750] Chr11:119297431 [GRCh38]
Chr11:119168141 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.196-6T>A single nucleotide variant RASopathy [RCV003655658] Chr11:119232442 [GRCh38]
Chr11:119103152 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1145A>G (p.Lys382Arg) single nucleotide variant RASopathy [RCV003655671] Chr11:119278215 [GRCh38]
Chr11:119148925 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2164T>G (p.Cys722Gly) single nucleotide variant RASopathy [RCV003656059] Chr11:119297394 [GRCh38]
Chr11:119168104 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.83T>C (p.Leu28Pro) single nucleotide variant RASopathy [RCV003539540] Chr11:119206500 [GRCh38]
Chr11:119077210 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1717C>T (p.Pro573Ser) single nucleotide variant RASopathy [RCV003840576] Chr11:119285342 [GRCh38]
Chr11:119156052 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1082T>C (p.Ile361Thr) single nucleotide variant RASopathy [RCV003654587] Chr11:119277831 [GRCh38]
Chr11:119148541 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.337G>A (p.Glu113Lys) single nucleotide variant RASopathy [RCV003654592] Chr11:119232589 [GRCh38]
Chr11:119103299 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1622A>G (p.Asp541Gly) single nucleotide variant RASopathy [RCV003655541] Chr11:119285247 [GRCh38]
Chr11:119155957 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1581T>C (p.Leu527=) single nucleotide variant RASopathy [RCV003655543] Chr11:119285206 [GRCh38]
Chr11:119155916 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2629G>C (p.Ala877Pro) single nucleotide variant RASopathy [RCV003539654] Chr11:119299689 [GRCh38]
Chr11:119170399 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2546C>T (p.Ser849Phe) single nucleotide variant RASopathy [RCV003655562] Chr11:119299606 [GRCh38]
Chr11:119170316 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1562A>T (p.Lys521Met) single nucleotide variant RASopathy [RCV003539658] Chr11:119285099 [GRCh38]
Chr11:119155809 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2390G>A (p.Ser797Asn) single nucleotide variant RASopathy [RCV003655598] Chr11:119298496 [GRCh38]
Chr11:119169206 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.522T>G (p.Phe174Leu) single nucleotide variant RASopathy [RCV003655619] Chr11:119271813 [GRCh38]
Chr11:119142523 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.320A>C (p.Glu107Ala) single nucleotide variant RASopathy [RCV003539496] Chr11:119232572 [GRCh38]
Chr11:119103282 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2434+2T>A single nucleotide variant RASopathy [RCV003539504] Chr11:119298542 [GRCh38]
Chr11:119169252 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.711G>C (p.Ser237=) single nucleotide variant RASopathy [RCV003539511] Chr11:119273988 [GRCh38]
Chr11:119144698 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.913A>G (p.Ile305Val) single nucleotide variant RASopathy [RCV003814527] Chr11:119276040 [GRCh38]
Chr11:119146750 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1749T>C (p.Ser583=) single nucleotide variant RASopathy [RCV003654541] Chr11:119285374 [GRCh38]
Chr11:119156084 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.32C>A (p.Ala11Asp) single nucleotide variant RASopathy [RCV003654706] Chr11:119206449 [GRCh38]
Chr11:119077159 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1598T>C (p.Leu533Ser) single nucleotide variant RASopathy [RCV003655683] Chr11:119285223 [GRCh38]
Chr11:119155933 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2307T>C (p.Asn769=) single nucleotide variant RASopathy [RCV003655701] Chr11:119298413 [GRCh38]
Chr11:119169123 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1754G>C (p.Arg585Pro) single nucleotide variant RASopathy [RCV003539515] Chr11:119285379 [GRCh38]
Chr11:119156089 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1729A>G (p.Lys577Glu) single nucleotide variant RASopathy [RCV003654737] Chr11:119285354 [GRCh38]
Chr11:119156064 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1466dup (p.Gln490fs) duplication RASopathy [RCV003655678] Chr11:119284999..119285000 [GRCh38]
Chr11:119155709..119155710 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.383A>G (p.Gln128Arg) single nucleotide variant RASopathy [RCV003655748] Chr11:119232635 [GRCh38]
Chr11:119103345 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1579C>T (p.Leu527Phe) single nucleotide variant RASopathy [RCV003539523] Chr11:119285204 [GRCh38]
Chr11:119155914 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1633C>T (p.Pro545Ser) single nucleotide variant RASopathy [RCV003654753] Chr11:119285258 [GRCh38]
Chr11:119155968 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1480C>G (p.Pro494Ala) single nucleotide variant RASopathy [RCV003655771] Chr11:119285017 [GRCh38]
Chr11:119155727 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.906G>A (p.Gln302=) single nucleotide variant RASopathy [RCV003655786] Chr11:119276033 [GRCh38]
Chr11:119146743 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.443+16T>C single nucleotide variant RASopathy [RCV003654789] Chr11:119232711 [GRCh38]
Chr11:119103421 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1471G>A (p.Ala491Thr) single nucleotide variant RASopathy [RCV003655809] Chr11:119285008 [GRCh38]
Chr11:119155718 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2153+12A>G single nucleotide variant RASopathy [RCV003654843] Chr11:119297046 [GRCh38]
Chr11:119167756 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1107_1118del (p.Leu370_Glu373del) deletion RASopathy [RCV003539576] Chr11:119278174..119278185 [GRCh38]
Chr11:119148884..119148895 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.590+2T>G single nucleotide variant RASopathy [RCV003539579] Chr11:119271883 [GRCh38]
Chr11:119142593 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.174G>A (p.Lys58=) single nucleotide variant RASopathy [RCV003654851] Chr11:119206591 [GRCh38]
Chr11:119077301 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1696C>A (p.Pro566Thr) single nucleotide variant RASopathy [RCV003655834] Chr11:119285321 [GRCh38]
Chr11:119156031 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2154-14dup duplication RASopathy [RCV003539592] Chr11:119297367..119297368 [GRCh38]
Chr11:119168077..119168078 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.482T>A (p.Met161Lys) single nucleotide variant RASopathy [RCV003539601] Chr11:119271773 [GRCh38]
Chr11:119142483 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2063C>G (p.Pro688Arg) single nucleotide variant RASopathy [RCV003655908] Chr11:119296944 [GRCh38]
Chr11:119167654 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1183C>T (p.Pro395Ser) single nucleotide variant RASopathy [RCV003655910] Chr11:119278253 [GRCh38]
Chr11:119148963 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.748-11del deletion RASopathy [RCV003655918] Chr11:119274820 [GRCh38]
Chr11:119145530 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2153+14A>C single nucleotide variant RASopathy [RCV003655922] Chr11:119297048 [GRCh38]
Chr11:119167758 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1278T>A (p.Thr426=) single nucleotide variant RASopathy [RCV003655943] Chr11:119278560 [GRCh38]
Chr11:119149270 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1219T>C (p.Ser407Pro) single nucleotide variant RASopathy [RCV003539603] Chr11:119278289 [GRCh38]
Chr11:119148999 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1062A>G (p.Glu354=) single nucleotide variant RASopathy [RCV003655946] Chr11:119277811 [GRCh38]
Chr11:119148521 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1049C>T (p.Thr350Ile) single nucleotide variant RASopathy [RCV003655973] Chr11:119277798 [GRCh38]
Chr11:119148508 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.158A>G (p.Lys53Arg) single nucleotide variant RASopathy [RCV003655451] Chr11:119206575 [GRCh38]
Chr11:119077285 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.525G>A (p.Gln175=) single nucleotide variant RASopathy [RCV003655453] Chr11:119271816 [GRCh38]
Chr11:119142526 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.114C>G (p.His38Gln) single nucleotide variant RASopathy [RCV003655988] Chr11:119206531 [GRCh38]
Chr11:119077241 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1523G>A (p.Cys508Tyr) single nucleotide variant RASopathy [RCV003656008] Chr11:119285060 [GRCh38]
Chr11:119155770 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1941+2T>G single nucleotide variant RASopathy [RCV003539546] Chr11:119285568 [GRCh38]
Chr11:119156278 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2559C>T (p.Ala853=) single nucleotide variant RASopathy [RCV003539545] Chr11:119299619 [GRCh38]
Chr11:119170329 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1949_1951del (p.Asn650del) deletion RASopathy [RCV003539625] Chr11:119287858..119287860 [GRCh38]
Chr11:119158568..119158570 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.235A>G (p.Asn79Asp) single nucleotide variant RASopathy [RCV003539627] Chr11:119232487 [GRCh38]
Chr11:119103197 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1148T>C (p.Ile383Thr) single nucleotide variant RASopathy [RCV003654680] Chr11:119278218 [GRCh38]
Chr11:119148928 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2389A>G (p.Ser797Gly) single nucleotide variant RASopathy [RCV003654764] Chr11:119298495 [GRCh38]
Chr11:119169205 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1196T>A (p.Leu399His) single nucleotide variant RASopathy [RCV003654805] Chr11:119278266 [GRCh38]
Chr11:119148976 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2429CAA[1] (p.Thr811del) microsatellite RASopathy [RCV003654847] Chr11:119298534..119298536 [GRCh38]
Chr11:119169244..119169246 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1306C>T (p.Pro436Ser) single nucleotide variant RASopathy [RCV003655468] Chr11:119278588 [GRCh38]
Chr11:119149298 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.182A>G (p.Lys61Arg) single nucleotide variant RASopathy [RCV003655533] Chr11:119206599 [GRCh38]
Chr11:119077309 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.628C>G (p.His210Asp) single nucleotide variant RASopathy [RCV003655583] Chr11:119273905 [GRCh38]
Chr11:119144615 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2283C>T (p.Asn761=) single nucleotide variant RASopathy [RCV003655693] Chr11:119298389 [GRCh38]
Chr11:119169099 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.550G>A (p.Ala184Thr) single nucleotide variant RASopathy [RCV003655800] Chr11:119271841 [GRCh38]
Chr11:119142551 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.940A>T (p.Ile314Phe) single nucleotide variant RASopathy [RCV003655840] Chr11:119276067 [GRCh38]
Chr11:119146777 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.590+12A>G single nucleotide variant RASopathy [RCV003817477] Chr11:119271893 [GRCh38]
Chr11:119142603 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2266G>T (p.Ala756Ser) single nucleotide variant RASopathy [RCV003655961] Chr11:119298372 [GRCh38]
Chr11:119169082 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1095+10G>T single nucleotide variant RASopathy [RCV003655962] Chr11:119277854 [GRCh38]
Chr11:119148564 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2284A>G (p.Thr762Ala) single nucleotide variant RASopathy [RCV003655996] Chr11:119298390 [GRCh38]
Chr11:119169100 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1563+11_1563+17del deletion RASopathy [RCV003839741] Chr11:119285107..119285113 [GRCh38]
Chr11:119155817..119155823 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1096-21_1096-19del deletion RASopathy [RCV003655916] Chr11:119278144..119278146 [GRCh38]
Chr11:119148854..119148856 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.173A>G (p.Lys58Arg) single nucleotide variant RASopathy [RCV003655458] Chr11:119206590 [GRCh38]
Chr11:119077300 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1917C>G (p.Ser639Arg) single nucleotide variant RASopathy [RCV003836668] Chr11:119285542 [GRCh38]
Chr11:119156252 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2622C>T (p.Ile874=) single nucleotide variant RASopathy [RCV003655473] Chr11:119299682 [GRCh38]
Chr11:119170392 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.481A>C (p.Met161Leu) single nucleotide variant RASopathy [RCV003655495] Chr11:119271772 [GRCh38]
Chr11:119142482 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.444-17A>C single nucleotide variant RASopathy [RCV003654571] Chr11:119271718 [GRCh38]
Chr11:119142428 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2037-4C>T single nucleotide variant RASopathy [RCV003654810] Chr11:119296914 [GRCh38]
Chr11:119167624 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2232C>G (p.Ile744Met) single nucleotide variant RASopathy [RCV003655823] Chr11:119297462 [GRCh38]
Chr11:119168172 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.549A>G (p.Lys183=) single nucleotide variant RASopathy [RCV003654902] Chr11:119271840 [GRCh38]
Chr11:119142550 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2432C>A (p.Thr811Lys) single nucleotide variant RASopathy [RCV003655938] Chr11:119298538 [GRCh38]
Chr11:119169248 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.453A>C (p.Leu151=) single nucleotide variant RASopathy [RCV003655974] Chr11:119271744 [GRCh38]
Chr11:119142454 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1196T>C (p.Leu399Pro) single nucleotide variant RASopathy [RCV003654590] Chr11:119278266 [GRCh38]
Chr11:119148976 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1250C>G (p.Pro417Arg) single nucleotide variant RASopathy [RCV003654603] Chr11:119278532 [GRCh38]
Chr11:119149242 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1561A>G (p.Lys521Glu) single nucleotide variant RASopathy [RCV003655597] Chr11:119285098 [GRCh38]
Chr11:119155808 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.444-18C>A single nucleotide variant RASopathy [RCV003655600] Chr11:119271717 [GRCh38]
Chr11:119142427 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.704A>G (p.Tyr235Cys) single nucleotide variant RASopathy [RCV003815942] Chr11:119273981 [GRCh38]
Chr11:119144691 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.206T>C (p.Leu69Ser) single nucleotide variant RASopathy [RCV003655613] Chr11:119232458 [GRCh38]
Chr11:119103168 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.421T>C (p.Tyr141His) single nucleotide variant RASopathy [RCV003655822] Chr11:119232673 [GRCh38]
Chr11:119103383 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2642C>G (p.Ala881Gly) single nucleotide variant RASopathy [RCV003655862] Chr11:119299702 [GRCh38]
Chr11:119170412 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2122C>T (p.Leu708=) single nucleotide variant RASopathy [RCV003655866] Chr11:119297003 [GRCh38]
Chr11:119167713 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2100C>A (p.Tyr700Ter) single nucleotide variant RASopathy [RCV003654887] Chr11:119296981 [GRCh38]
Chr11:119167691 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2341G>C (p.Val781Leu) single nucleotide variant RASopathy [RCV003540042] Chr11:119298447 [GRCh38]
Chr11:119169157 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.693C>A (p.Thr231=) single nucleotide variant RASopathy [RCV003540252] Chr11:119273970 [GRCh38]
Chr11:119144680 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.650C>G (p.Ser217Cys) single nucleotide variant RASopathy [RCV003540188] Chr11:119273927 [GRCh38]
Chr11:119144637 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1365TGA[3] (p.Asp458_Asp460del) microsatellite RASopathy [RCV003540441] Chr11:119278646..119278654 [GRCh38]
Chr11:119149356..119149364 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2036+17T>C single nucleotide variant RASopathy [RCV003540133] Chr11:119287963 [GRCh38]
Chr11:119158673 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.141G>A (p.Pro47=) single nucleotide variant RASopathy [RCV003540305] Chr11:119206558 [GRCh38]
Chr11:119077268 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1942-18C>T single nucleotide variant RASopathy [RCV003863049] Chr11:119287834 [GRCh38]
Chr11:119158544 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1937C>T (p.Ser646Phe) single nucleotide variant RASopathy [RCV003540418] Chr11:119285562 [GRCh38]
Chr11:119156272 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.591-20C>T single nucleotide variant RASopathy [RCV003844931] Chr11:119273848 [GRCh38]
Chr11:119144558 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.748-19A>C single nucleotide variant RASopathy [RCV003539679] Chr11:119274813 [GRCh38]
Chr11:119145523 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2388C>T (p.Ala796=) single nucleotide variant RASopathy [RCV003540290] Chr11:119298494 [GRCh38]
Chr11:119169204 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2153+18C>G single nucleotide variant RASopathy [RCV003540313] Chr11:119297052 [GRCh38]
Chr11:119167762 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.394del (p.Leu132fs) deletion RASopathy [RCV003539706] Chr11:119232645 [GRCh38]
Chr11:119103355 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.84C>T (p.Leu28=) single nucleotide variant RASopathy [RCV003539735] Chr11:119206501 [GRCh38]
Chr11:119077211 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1942-7T>C single nucleotide variant RASopathy [RCV003540359] Chr11:119287845 [GRCh38]
Chr11:119158555 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2291C>G (p.Pro764Arg) single nucleotide variant RASopathy [RCV003540365] Chr11:119298397 [GRCh38]
Chr11:119169107 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.32C>T (p.Ala11Val) single nucleotide variant RASopathy [RCV003540362] Chr11:119206449 [GRCh38]
Chr11:119077159 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2036+10C>G single nucleotide variant RASopathy [RCV003540390] Chr11:119287956 [GRCh38]
Chr11:119158666 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.471C>G (p.Ile157Met) single nucleotide variant RASopathy [RCV003846942] Chr11:119271762 [GRCh38]
Chr11:119142472 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.748-20G>A single nucleotide variant RASopathy [RCV003865551] Chr11:119274812 [GRCh38]
Chr11:119145522 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.831G>C (p.Val277=) single nucleotide variant RASopathy [RCV003540176] Chr11:119274915 [GRCh38]
Chr11:119145625 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.49T>C (p.Ser17Pro) single nucleotide variant RASopathy [RCV003539717] Chr11:119206466 [GRCh38]
Chr11:119077176 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2024C>A (p.Ser675Tyr) single nucleotide variant RASopathy [RCV003539609] Chr11:119287934 [GRCh38]
Chr11:119158644 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2154-13C>G single nucleotide variant RASopathy [RCV003870643] Chr11:119297371 [GRCh38]
Chr11:119168081 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2252-19A>T single nucleotide variant RASopathy [RCV003539645] Chr11:119298339 [GRCh38]
Chr11:119169049 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2154-12C>G single nucleotide variant RASopathy [RCV003539659] Chr11:119297372 [GRCh38]
Chr11:119168082 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2202_2203dup (p.Tyr735fs) duplication RASopathy [RCV003540272] Chr11:119297430..119297431 [GRCh38]
Chr11:119168140..119168141 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.313A>C (p.Lys105Gln) single nucleotide variant RASopathy [RCV003540236] Chr11:119232565 [GRCh38]
Chr11:119103275 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.250A>G (p.Ile84Val) single nucleotide variant RASopathy [RCV003540423] Chr11:119232502 [GRCh38]
Chr11:119103212 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.444-14C>A single nucleotide variant RASopathy [RCV003867495] Chr11:119271721 [GRCh38]
Chr11:119142431 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1027C>G (p.Arg343Gly) single nucleotide variant RASopathy [RCV003820037] Chr11:119277776 [GRCh38]
Chr11:119148486 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2606A>G (p.Tyr869Cys) single nucleotide variant not provided [RCV003736385] Chr11:119299666 [GRCh38]
Chr11:119170376 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.196-4G>A single nucleotide variant RASopathy [RCV003872009] Chr11:119232444 [GRCh38]
Chr11:119103154 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2177T>C (p.Ile726Thr) single nucleotide variant RASopathy [RCV003540055] Chr11:119297407 [GRCh38]
Chr11:119168117 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1757T>C (p.Leu586Pro) single nucleotide variant RASopathy [RCV003539680] Chr11:119285382 [GRCh38]
Chr11:119156092 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.96C>T (p.Ala32=) single nucleotide variant RASopathy [RCV003540129] Chr11:119206513 [GRCh38]
Chr11:119077223 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1096-14T>G single nucleotide variant RASopathy [RCV003540149] Chr11:119278152 [GRCh38]
Chr11:119148862 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2069A>T (p.Glu690Val) single nucleotide variant RASopathy [RCV003540296] Chr11:119296950 [GRCh38]
Chr11:119167660 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2228C>G (p.Ser743Cys) single nucleotide variant RASopathy [RCV003540447] Chr11:119297458 [GRCh38]
Chr11:119168168 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1915A>G (p.Ser639Gly) single nucleotide variant RASopathy [RCV003540460] Chr11:119285540 [GRCh38]
Chr11:119156250 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.85A>G (p.Met29Val) single nucleotide variant RASopathy [RCV003539693] Chr11:119206502 [GRCh38]
Chr11:119077212 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2607C>T (p.Tyr869=) single nucleotide variant RASopathy [RCV003539669] Chr11:119299667 [GRCh38]
Chr11:119170377 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2531G>A (p.Ser844Asn) single nucleotide variant RASopathy [RCV003539724] Chr11:119299591 [GRCh38]
Chr11:119170301 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1363T>G (p.Tyr455Asp) single nucleotide variant RASopathy [RCV003539734] Chr11:119278645 [GRCh38]
Chr11:119149355 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2357C>T (p.Ala786Val) single nucleotide variant RASopathy [RCV003539674] Chr11:119298463 [GRCh38]
Chr11:119169173 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.864dup (p.Gly289fs) duplication RASopathy [RCV003539532] Chr11:119274947..119274948 [GRCh38]
Chr11:119145657..119145658 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2435-14C>T single nucleotide variant RASopathy [RCV003539595] Chr11:119299481 [GRCh38]
Chr11:119170191 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1837G>T (p.Glu613Ter) single nucleotide variant RASopathy [RCV003539719] Chr11:119285462 [GRCh38]
Chr11:119156172 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.634G>A (p.Val212Met) single nucleotide variant RASopathy [RCV003539758] Chr11:119273911 [GRCh38]
Chr11:119144621 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2420G>A (p.Gly807Asp) single nucleotide variant RASopathy [RCV003539754] Chr11:119298526 [GRCh38]
Chr11:119169236 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2571C>T (p.Leu857=) single nucleotide variant RASopathy [RCV003540077] Chr11:119299631 [GRCh38]
Chr11:119170341 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.160A>G (p.Lys54Glu) single nucleotide variant RASopathy [RCV003539688] Chr11:119206577 [GRCh38]
Chr11:119077287 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.107ACC[5] (p.His41_His42del) microsatellite RASopathy [RCV003540061] Chr11:119206523..119206528 [GRCh38]
Chr11:119077233..119077238 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2363G>C (p.Arg788Pro) single nucleotide variant RASopathy [RCV003845011] Chr11:119298469 [GRCh38]
Chr11:119169179 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1258C>G (p.Arg420Gly) single nucleotide variant RASopathy [RCV003540156] Chr11:119278540 [GRCh38]
Chr11:119149250 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2166C>T (p.Cys722=) single nucleotide variant RASopathy [RCV003540170] Chr11:119297396 [GRCh38]
Chr11:119168106 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.851T>C (p.Phe284Ser) single nucleotide variant RASopathy [RCV003540231] Chr11:119274935 [GRCh38]
Chr11:119145645 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.272C>A (p.Thr91Asn) single nucleotide variant RASopathy [RCV003540285] Chr11:119232524 [GRCh38]
Chr11:119103234 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1435G>T (p.Glu479Ter) single nucleotide variant RASopathy [RCV003540300] Chr11:119284972 [GRCh38]
Chr11:119155682 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2600A>C (p.Gln867Pro) single nucleotide variant RASopathy [RCV003540431] Chr11:119299660 [GRCh38]
Chr11:119170370 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1153G>A (p.Ala385Thr) single nucleotide variant RASopathy [RCV003540368] Chr11:119278223 [GRCh38]
Chr11:119148933 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2252-18_2252-16del deletion RASopathy [RCV003540403] Chr11:119298338..119298340 [GRCh38]
Chr11:119169048..119169050 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.192C>A (p.Asp64Glu) single nucleotide variant RASopathy [RCV003822519] Chr11:119206609 [GRCh38]
Chr11:119077319 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.196G>A (p.Val66Met) single nucleotide variant RASopathy [RCV003540473] Chr11:119232448 [GRCh38]
Chr11:119103158 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.2285C>G (p.Thr762Ser) single nucleotide variant RASopathy [RCV003540392] Chr11:119298391 [GRCh38]
Chr11:119169101 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1527_1528delinsCT (p.Pro510Ser) indel RASopathy [RCV003845117] Chr11:119285064..119285065 [GRCh38]
Chr11:119155774..119155775 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1768T>G (p.Trp590Gly) single nucleotide variant RASopathy [RCV003818763] Chr11:119285393 [GRCh38]
Chr11:119156103 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1965A>G (p.Val655=) single nucleotide variant RASopathy [RCV003820316] Chr11:119287875 [GRCh38]
Chr11:119158585 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.1710C>A (p.Gly570=) single nucleotide variant CBL-related condition [RCV003947268] Chr11:119285335 [GRCh38]
Chr11:119156045 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.2135A>T (p.Asp712Val) single nucleotide variant CBL-related condition [RCV003924378] Chr11:119297016 [GRCh38]
Chr11:119167726 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.755C>T (p.Ser252Phe) single nucleotide variant CBL-related condition [RCV003962272] Chr11:119274839 [GRCh38]
Chr11:119145549 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.1096-6_1101delinsATTATGAATTTTTTTAAAT indel CBL-related condition [RCV003911752] Chr11:119278160..119278171 [GRCh38]
Chr11:119148870..119148881 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_005188.4(CBL):c.482T>C (p.Met161Thr) single nucleotide variant CBL-related condition [RCV003919814] Chr11:119271773 [GRCh38]
Chr11:119142483 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.486G>C (p.Leu162=) single nucleotide variant CBL-related condition [RCV003896473] Chr11:119271777 [GRCh38]
Chr11:119142487 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.3(CBL):c.-95_-94insGAC insertion CBL-related condition [RCV003898952] Chr11:119206322..119206323 [GRCh38]
Chr11:119077032..119077033 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_005188.4(CBL):c.105G>T (p.Pro35=) single nucleotide variant not provided [RCV003887718] Chr11:119206522 [GRCh38]
Chr11:119077232 [GRCh37]
Chr11:11q23.3		 likely benign
NM_005188.4(CBL):c.951A>T (p.Thr317=) single nucleotide variant CBL-related condition [RCV003896605] Chr11:119276078 [GRCh38]
Chr11:119146788 [GRCh37]
Chr11:11q23.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3839
Count of miRNA genes:1186
Interacting mature miRNAs:1510
Transcripts:ENST00000264033
Prediction methods:Microtar, Miranda, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
WI-14589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711119,177,471 - 119,177,596UniSTSGRCh37
Build 3611118,682,681 - 118,682,806RGDNCBI36
Celera11116,337,671 - 116,337,796RGD
Cytogenetic Map11q23.3UniSTS
HuRef11115,118,174 - 115,118,299UniSTS
GeneMap99-GB4 RH Map11386.21UniSTS
Whitehead-RH Map11542.4UniSTS
RH93709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711119,178,436 - 119,178,555UniSTSGRCh37
Build 3611118,683,646 - 118,683,765RGDNCBI36
Celera11116,338,636 - 116,338,755RGD
Cytogenetic Map11q23.3UniSTS
HuRef11115,119,139 - 115,119,258UniSTS
GeneMap99-GB4 RH Map11386.52UniSTS
RH103536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711119,178,076 - 119,178,222UniSTSGRCh37
Build 3611118,683,286 - 118,683,432RGDNCBI36
Celera11116,338,276 - 116,338,422RGD
Cytogenetic Map11q23.3UniSTS
HuRef11115,118,779 - 115,118,925UniSTS
GeneMap99-GB4 RH Map11386.52UniSTS
G59879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711119,172,382 - 119,172,522UniSTSGRCh37
Build 3611118,677,592 - 118,677,732RGDNCBI36
Celera11116,332,582 - 116,332,722RGD
Cytogenetic Map11q23.3UniSTS
HuRef11115,113,085 - 115,113,225UniSTS
TNG Radiation Hybrid Map1155287.0UniSTS
GDB:198117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711119,170,519 - 119,170,706UniSTSGRCh37
Build 3611118,675,729 - 118,675,916RGDNCBI36
Celera11116,330,719 - 116,330,906RGD
Cytogenetic Map11q23.3UniSTS
HuRef11115,111,222 - 115,111,409UniSTS
WI-8978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711119,170,495 - 119,170,618UniSTSGRCh37
Build 3611118,675,705 - 118,675,828RGDNCBI36
Celera11116,330,695 - 116,330,818RGD
Cytogenetic Map11q23.3UniSTS
HuRef11115,111,198 - 115,111,321UniSTS
Whitehead-YAC Contig Map11 UniSTS
PMC86017P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711119,075,841 - 119,076,135UniSTSGRCh37
Build 3611118,581,051 - 118,581,345RGDNCBI36
Celera11116,234,875 - 116,235,169RGD
Cytogenetic Map11q23.3UniSTS
HuRef11115,016,228 - 115,016,522UniSTS
D11S1941E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711119,172,374 - 119,172,523UniSTSGRCh37
GRCh3711119,172,452 - 119,172,530UniSTSGRCh37
Build 3611118,677,584 - 118,677,733RGDNCBI36
Celera11116,332,652 - 116,332,730UniSTS
Celera11116,332,574 - 116,332,723RGD
Cytogenetic Map11q23.3UniSTS
HuRef11115,113,077 - 115,113,226UniSTS
HuRef11115,113,155 - 115,113,233UniSTS
GeneMap99-GB4 RH Map11386.42UniSTS
RH47875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711119,172,380 - 119,172,522UniSTSGRCh37
Build 3611118,677,590 - 118,677,732RGDNCBI36
Celera11116,332,580 - 116,332,722RGD
Cytogenetic Map11q23.3UniSTS
HuRef11115,113,083 - 115,113,225UniSTS
GeneMap99-GB4 RH Map11387.25UniSTS
STS-X57110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711119,170,256 - 119,170,528UniSTSGRCh37
Build 3611118,675,466 - 118,675,738RGDNCBI36
Celera11116,330,456 - 116,330,728RGD
Cytogenetic Map11q23.3UniSTS
HuRef11115,110,959 - 115,111,231UniSTS
GeneMap99-GB4 RH Map11386.48UniSTS
CBL_4518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711119,170,285 - 119,170,903UniSTSGRCh37
Build 3611118,675,495 - 118,676,113RGDNCBI36
Celera11116,330,485 - 116,331,103RGD
HuRef11115,110,988 - 115,111,606UniSTS
CBL  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q23.3UniSTS
GeneMap99-GB4 RH Map11388.08UniSTS
G15959  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q23.3UniSTS
HuRef11115,119,926 - 115,120,047UniSTS
D11S1941E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q23.3UniSTS
GeneMap99-GB4 RH Map11386.42UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1162 1706 179 31 1505 35 1956 657 1005 138 869 849 9 715 1188 3
Low 1277 1281 1542 588 446 425 2399 1534 2729 280 591 764 166 1 489 1599 3 2
Below cutoff 4 5 5 5 1 5 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA806454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY126609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG722940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB457271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP203813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X69207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264033   ⟹   ENSP00000264033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,206,339 - 119,308,149 (+)Ensembl
RefSeq Acc Id: ENST00000634301   ⟹   ENSP00000489556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,298,372 - 119,308,147 (+)Ensembl
RefSeq Acc Id: ENST00000634586   ⟹   ENSP00000489218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,206,298 - 119,308,147 (+)Ensembl
RefSeq Acc Id: ENST00000634840   ⟹   ENSP00000489324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,206,300 - 119,301,887 (+)Ensembl
RefSeq Acc Id: ENST00000637974   ⟹   ENSP00000490763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,206,424 - 119,313,926 (+)Ensembl
RefSeq Acc Id: ENST00000700472   ⟹   ENSP00000515005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,206,341 - 119,313,897 (+)Ensembl
RefSeq Acc Id: NM_005188   ⟹   NP_005179
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,206,339 - 119,308,149 (+)NCBI
GRCh3711119,076,986 - 119,178,859 (+)NCBI
Build 3611118,582,200 - 118,684,069 (+)NCBI Archive
HuRef11115,017,373 - 115,119,562 (+)NCBI
CHM1_111118,963,252 - 119,065,411 (+)NCBI
T2T-CHM13v2.011119,226,712 - 119,328,785 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_005179   ⟸   NM_005188
- UniProtKB: A3KMP8 (UniProtKB/Swiss-Prot),   P22681 (UniProtKB/Swiss-Prot),   A0A0U1RR39 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000489556   ⟸   ENST00000634301
RefSeq Acc Id: ENSP00000489324   ⟸   ENST00000634840
RefSeq Acc Id: ENSP00000489218   ⟸   ENST00000634586
RefSeq Acc Id: ENSP00000490763   ⟸   ENST00000637974
RefSeq Acc Id: ENSP00000264033   ⟸   ENST00000264033
RefSeq Acc Id: ENSP00000515005   ⟸   ENST00000700472
Protein Domains
Cbl-PTB   RING-type   UBA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22681-F1-model_v2 AlphaFold P22681 1-906 view protein structure

Promoters
RGD ID:6788590
Promoter ID:HG_KWN:14378
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_005188,   UC001PWD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611118,581,781 - 118,582,982 (-)MPROMDB
RGD ID:7222401
Promoter ID:EPDNEW_H16943
Type:initiation region
Name:CBL_2
Description:Cbl proto-oncogene
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16945  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,206,073 - 119,206,133EPDNEW
RGD ID:7222397
Promoter ID:EPDNEW_H16945
Type:initiation region
Name:CBL_1
Description:Cbl proto-oncogene
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16943  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,206,354 - 119,206,414EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1541 AgrOrtholog
COSMIC CBL COSMIC
Ensembl Genes ENSG00000110395 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264033 ENTREZGENE
  ENST00000264033.6 UniProtKB/Swiss-Prot
  ENST00000634301.1 UniProtKB/TrEMBL
  ENST00000634586.1 UniProtKB/TrEMBL
  ENST00000634840.1 UniProtKB/TrEMBL
  ENST00000637974.1 UniProtKB/TrEMBL
  ENST00000700472.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.930.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.505.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA helicase RuvA subunit, C-terminal domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000110395 GTEx
HGNC ID HGNC:1541 ENTREZGENE
Human Proteome Map CBL Human Proteome Map
InterPro Adaptor_Cbl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adaptor_Cbl_EF_hand-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adaptor_Cbl_N_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adaptor_Cbl_N_hlx UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adaptor_Cbl_SH2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cbl_PTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBA-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C3HC4_RING-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:867 UniProtKB/Swiss-Prot
NCBI Gene 867 ENTREZGENE
OMIM 165360 OMIM
PANTHER E3 UBIQUITIN-PROTEIN LIGASE CBL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23007 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cbl_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cbl_N2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cbl_N3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C3HC4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26115 PharmGKB
PROSITE CBL_PTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RING_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF46934 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47668 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0U1RQX8_HUMAN UniProtKB/TrEMBL
  A0A0U1RR39 ENTREZGENE, UniProtKB/TrEMBL
  A0A0U1RRJ5_HUMAN UniProtKB/TrEMBL
  A0A1B0GW38_HUMAN UniProtKB/TrEMBL
  A0A8V8TQA9_HUMAN UniProtKB/TrEMBL
  A3KMP8 ENTREZGENE
  CBL_HUMAN UniProtKB/Swiss-Prot
  L0R4V5_HUMAN UniProtKB/TrEMBL
  P22681 ENTREZGENE
UniProt Secondary A3KMP8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 CBL  Cbl proto-oncogene  CBL  Cbl proto-oncogene, E3 ubiquitin protein ligase  Symbol and/or name change 5135510 APPROVED
2016-03-16 CBL  Cbl proto-oncogene, E3 ubiquitin protein ligase  FRA11B  fragile site, folic acid type, rare, fra(11)(q23.3)  Data merged from RGD:1344640 737654 PROVISIONAL
2012-03-01 CBL  Cbl proto-oncogene, E3 ubiquitin protein ligase  CBL  Cas-Br-M (murine) ecotropic retroviral transforming sequence  Symbol and/or name change 5135510 APPROVED