HRAS (HRas proto-oncogene, GTPase) - Rat Genome Database

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Gene: HRAS (HRas proto-oncogene, GTPase) Homo sapiens
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Symbol: HRAS
Name: HRas proto-oncogene, GTPase
RGD ID: 730881
HGNC Page HGNC:5173
Description: Enables GTPase activity; guanyl ribonucleotide binding activity; and phospholipase C activator activity. Involved in several processes, including positive regulation of MAPK cascade; positive regulation of RNA metabolic process; and regulation of protein localization to membrane. Located in several cellular components, including Golgi apparatus; ciliary basal body; and nucleoplasm. Part of GTPase complex. Is active in glutamatergic synapse. Implicated in several diseases, including Costello syndrome; autistic disorder; carcinoma (multiple); epidermal nevus; and large congenital melanocytic nevus. Biomarker of Alzheimer's disease; endometrial carcinoma; glioblastoma; liver disease (multiple); and urinary bladder cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C-BAS/HAS; C-H-RAS; C-HA-RAS1; c-has/bas p21 protein; c-K-ras; c-Ki-ras; c-ras-Ki-2 activated oncogene; CTLO; GTP- and GDP-binding peptide B; GTPase HRas; GTPase KRas; H-Ras-1; H-RASIDX; ha-Ras; Ha-Ras1 proto-oncoprotein; HAMSV; Harvey rat sarcoma viral oncogene homolog; Harvey rat sarcoma viral oncoprotein; HRAS1; K-RAS; K-Ras 2; Ki-Ras; KRAS; KRAS2; N-RAS; p19 H-RasIDX protein; p21ras; Ras family small GTP binding protein H-Ras; RASH1; RASK2; transformation gene: oncogene HAMSV; transforming protein p21; v-Ha-ras Harvey rat sarcoma viral oncogene homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Is Marker For: Strains:   SD-Tg(CAG-HRAS*G12V)250Htsu  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811532,242 - 535,576 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11532,242 - 537,321 (-)EnsemblGRCh38hg38GRCh38
GRCh3711532,242 - 535,576 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611522,242 - 525,550 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411522,242 - 525,550NCBI
Celera11594,708 - 598,010 (-)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef11346,981 - 349,115 (-)NCBIHuRef
CHM1_111529,852 - 534,465 (-)NCBICHM1_1
T2T-CHM13v2.011579,238 - 582,554 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute myeloid leukemia  (IAGP)
adenoid cystic carcinoma  (EXP)
Alzheimer's disease  (IEP)
angiosarcoma  (EXP)
Animal Mammary Neoplasms  (EXP)
autistic disorder  (EXP,IAGP)
autoimmune hepatitis  (IMP)
Beckwith-Wiedemann syndrome  (IAGP)
Brain Neoplasms  (EXP)
Breast Neoplasms  (EXP,IAGP)
carcinoma  (EXP)
cardiofaciocutaneous syndrome  (EXP)
Chanarin-Dorfman syndrome  (IAGP)
complex cortical dysplasia with other brain malformations  (EXP)
congenital fibrosis of the extraocular muscles  (IAGP)
Congenital Myopathy with Excess of Muscle Spindles  (IAGP)
Costello syndrome  (EXP,IAGP,ISS)
delta beta-thalassemia  (IAGP)
developmental and epileptic encephalopathy  (IAGP)
diabetic retinopathy  (ISO)
Disease Progression  (EXP)
early infantile epileptic encephalopathy  (IAGP)
endometrial carcinoma  (IAGP,IEP)
epidermal nevus  (EXP,IAGP)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Neoplasms  (EXP)
Experimental Mammary Neoplasms  (EXP,ISO)
Experimental Neoplasms  (EXP)
Follicular Thyroid Cancer  (EXP,IAGP)
follicular thyroid carcinoma  (IAGP)
genetic disease  (IAGP)
glioblastoma  (IEP,ISO)
head and neck squamous cell carcinoma  (IAGP)
hepatocellular adenoma  (EXP)
hepatocellular carcinoma  (EXP,IAGP,IEP,IMP,ISO)
Hereditary Neoplastic Syndromes  (IAGP)
high grade glioma  (EXP,ISS)
Hydrops Fetalis  (IAGP)
Hypophosphatemic Rickets  (IAGP)
immunodeficiency 39  (IAGP)
intellectual disability  (IAGP)
large congenital melanocytic nevus  (EXP,IAGP)
Leber congenital amaurosis  (IAGP)
linear nevus sebaceous syndrome  (EXP,IAGP)
liver cancer  (ISO)
liver carcinoma  (ISO)
liver cirrhosis  (IEP)
Liver Neoplasms  (EXP)
lung adenocarcinoma  (EXP,IAGP)
Lung Neoplasms  (EXP)
lung non-small cell carcinoma  (IAGP)
lung squamous cell carcinoma  (IAGP)
malignant astrocytoma  (ISS)
melanoma  (EXP,IAGP)
Mouth Neoplasms  (EXP,ISO)
multiple myeloma  (IAGP)
Neoplasm Invasiveness  (EXP)
Neoplastic Cell Transformation  (EXP)
Neoplastic Processes  (EXP)
neuroblastoma  (EXP)
neuronal ceroid lipofuscinosis  (IAGP)
Noonan syndrome  (EXP,IAGP)
Noonan syndrome 1  (IAGP)
Noonan syndrome 3  (IAGP)
obsessive-compulsive disorder  (IAGP)
ovarian cancer  (IAGP)
Ovarian Neoplasms  (IEP)
papilloma  (EXP)
parathyroid adenoma  (IAGP)
Penile Neoplasms  (EXP)
phobic disorder  (IAGP)
Pigmented Nevus  (IAGP)
pre-malignant neoplasm  (EXP)
prostate adenocarcinoma  (IAGP)
Prostate Cancer, Hereditary, 1  (IAGP)
Prostatic Neoplasms  (EXP)
pulmonary valve stenosis  (IAGP)
RASopathy  (IAGP)
Recurrence  (EXP)
rhabdomyosarcoma  (IAGP)
Salivary Gland Neoplasms  (IAGP)
Sebaceous Nevus Syndrome and Hemimegalencephaly  (IAGP)
seminoma  (EXP,IAGP)
skin benign neoplasm  (IAGP)
Skin Neoplasms  (EXP)
spermatocytoma  (IAGP)
Splenic Neoplasms  (EXP)
squamous cell carcinoma  (EXP,IAGP)
Stomach Neoplasms  (EXP)
T-cell non-Hodgkin lymphoma  (EXP)
Thyroid Neoplasms  (EXP)
Tongue Neoplasms  (EXP,IMP)
transitional cell carcinoma  (EXP,IAGP)
Trichilemmoma  (IAGP)
urinary bladder cancer  (EXP,IAGP,IEP)
Urinary Bladder Neoplasm  (IAGP)
Uterine Cervical Neoplasms  (IAGP,IEP)
Vascular Malformations  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(+)-epicatechin-3-O-gallate  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
(S)-nicotine  (ISO)
1,2-dichlorobenzene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (ISO)
1-Amino-2,4-dibromoanthraquinone  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
1-nitropyrene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2,6-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-trans,6-trans,10-trans-geranylgeranyl diphosphate  (EXP)
2-trans,6-trans-farnesyl diphosphate  (EXP)
3-aminobenzamide  (EXP)
3-methyl-3H-imidazo[4,5-f]quinolin-2-amine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroperoxycyclophosphamide  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nitrophenol  (EXP)
4-nitroquinoline N-oxide  (EXP)
4-octylphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (EXP,ISO)
8-hydroxy-2'-deoxyguanosine  (ISO)
ABT-100  (EXP)
acrolein  (EXP)
acrylamide  (ISO)
actinomycin D  (EXP)
ADP  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
alendronic acid  (ISO)
all-trans-retinoic acid  (ISO)
alpha-pinene  (EXP)
amitrole  (ISO)
aristolochic acid A  (EXP,ISO)
Aroclor 1254  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP)
aspartame  (ISO)
atrazine  (EXP)
Azoxymethane  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[a]pyrene-7,8-diol  (EXP)
benzo[c]phenanthrene  (ISO)
Benzoyl peroxide  (ISO)
beryllium atom  (ISO)
beryllium dihydride  (ISO)
beryllium(0)  (ISO)
beta-lapachone  (EXP)
biphenyl-2-ol  (EXP)
biphenyl-4-amine  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bortezomib  (ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (EXP)
caffeine  (ISO)
capecitabine  (EXP)
capsaicin  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
chromium(6+)  (EXP,ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
citalopram  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cordycepin  (ISO)
crocidolite asbestos  (EXP,ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
deoxycholic acid  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibenzoylmethane  (EXP)
Dibutyl phosphate  (EXP)
dichlorine  (ISO)
diclofenac  (EXP)
dimethyl sulfoxide  (EXP)
dioxygen  (EXP)
doxifluridine  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
ellagic acid  (ISO)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
erastin  (EXP)
escitalopram  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
eugenol  (ISO)
farnesol  (EXP)
farnesyl diphosphate  (EXP)
fenofibrate  (ISO)
fenthion  (ISO)
finasteride  (ISO)
fipronil  (ISO)
flurbiprofen  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP,ISO)
GDP  (EXP)
geraniol  (ISO)
glafenine  (ISO)
gliotoxin  (ISO)
glucaric acid  (ISO)
glucose  (ISO)
glutathione  (EXP)
glycyrrhetinate  (EXP)
glycyrrhetinic acid  (EXP)
Goe 6976  (EXP)
GTP  (EXP)
heptachlor  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (EXP)
hydroxyl  (EXP)
iodoacetic acid  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
iron(2+) sulfate (anhydrous)  (ISO)
isoprenaline  (ISO)
isoprene  (ISO)
ketamine  (ISO)
ketoconazole  (EXP)
L-744832  (EXP)
lead diacetate  (EXP,ISO)
lead(0)  (EXP,ISO)
limonene  (EXP)
lipopolysaccharide  (EXP,ISO)
lonafarnib  (EXP)
lovastatin  (EXP)
LY294002  (EXP,ISO)
Maduramicin  (ISO)
malathion  (EXP)
manumycin A  (EXP,ISO)
MeIQ  (ISO)
MeIQx  (ISO)
mercury atom  (ISO)
mercury dichloride  (ISO)
mercury(0)  (ISO)
metformin  (EXP)
methamphetamine  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylglyoxal  (ISO)
Mezerein  (ISO)
mifepristone  (EXP)
monosodium L-glutamate  (ISO)
myricetin  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-ethyl-N-nitrosourea  (EXP,ISO)
N-hydroxy-4-aminobiphenyl  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-methyl-N-nitrosourea  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
NAD zwitterion  (EXP)
NAD(+)  (EXP)
naringin  (EXP,ISO)
nicotine  (ISO)
nimesulide  (EXP)
nitrofurazone  (ISO)
Nutlin-3  (EXP)
obeticholic acid  (EXP)
ochratoxin A  (ISO)
okadaic acid  (EXP)
ozone  (EXP,ISO)
paclitaxel  (EXP)
paracetamol  (ISO)
paraquat  (EXP)
parathion  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
PhIP  (EXP,ISO)
phlorizin  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
plutonium atom  (ISO)
progesterone  (ISO)
quercetin  (EXP)
reactive oxygen species  (EXP,ISO)
resveratrol  (EXP,ISO)
Risedronate sodium  (ISO)
rotenone  (ISO)
selenium atom  (EXP)
serpentine asbestos  (EXP)
sevoflurane  (EXP)
silicon dioxide  (EXP)
simvastatin  (EXP,ISO)
Siomycin A  (EXP)
sirolimus  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (EXP)
streptozocin  (ISO)
SU6656  (EXP)
sulfur dioxide  (ISO)
superoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
Tetranitromethane  (ISO)
thapsigargin  (ISO)
theaflavin  (ISO)
thiram  (EXP)
thyroxine  (ISO)
tipifarnib  (EXP,ISO)
titanium dioxide  (ISO)
toluene  (ISO)
triciribine  (EXP)
trimethyltin  (ISO)
Triptolide  (ISO)
troglitazone  (ISO)
tunicamycin  (ISO)
urethane  (EXP,ISO)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP)
vincristine  (EXP)
vinyl carbamate  (EXP)
vitamin E  (EXP,ISO)
zearalenone  (ISO)
zidovudine  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adipose tissue development  (IEA)
animal organ morphogenesis  (TAS)
cell surface receptor signaling pathway  (TAS)
cellular response to gamma radiation  (IDA)
cellular senescence  (IBA,IDA,IEA,ISO)
chemotaxis  (TAS)
defense response to protozoan  (IEA)
endocytosis  (IEA)
fibroblast proliferation  (IEA)
insulin receptor signaling pathway  (IEA)
intrinsic apoptotic signaling pathway  (IEA)
liver development  (ISO)
MAPK cascade  (TAS)
myelination  (IEA)
negative regulation of cell population proliferation  (IDA)
negative regulation of gene expression  (IDA)
negative regulation of neuron apoptotic process  (IEA)
neuron apoptotic process  (IEA)
oncogene-induced cell senescence  (IEA)
positive regulation of cell migration  (IDA)
positive regulation of cell population proliferation  (IDA,IEA)
positive regulation of DNA replication  (ISO)
positive regulation of epithelial cell proliferation  (IMP)
positive regulation of ERK1 and ERK2 cascade  (IDA,ISO)
positive regulation of fibroblast proliferation  (IEA)
positive regulation of gene expression  (IEA)
positive regulation of JNK cascade  (IDA)
positive regulation of MAPK cascade  (IDA)
positive regulation of miRNA metabolic process  (IDA)
positive regulation of protein targeting to membrane  (IMP)
positive regulation of Ras protein signal transduction  (ISO)
positive regulation of ruffle assembly  (IDA)
positive regulation of transcription by RNA polymerase II  (IDA)
positive regulation of type II interferon production  (IEA)
positive regulation of wound healing  (IDA)
Ras protein signal transduction  (IBA,IDA,IEA,ISO)
regulation of actin cytoskeleton organization  (IDA)
regulation of cell cycle  (IDA)
regulation of cell population proliferation  (IDA)
regulation of long-term neuronal synaptic plasticity  (IEA)
regulation of neurotransmitter receptor localization to postsynaptic specialization membrane  (IDA,IMP)
regulation of transcription by RNA polymerase II  (IDA)
response to isolation stress  (ISO)
Schwann cell development  (IEA)
signal transduction  (IEA,NAS)
small GTPase-mediated signal transduction  (IEA)
T cell receptor signaling pathway  (IEA)
T-helper 1 type immune response  (IEA)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
acute myeloid leukemia pathway  (IEA)
adenosine signaling pathway  (EXP)
B cell receptor signaling pathway  (IEA)
chronic myeloid leukemia pathway  (IEA)
endocytosis pathway   (IEA)
endometrial cancer pathway  (IEA)
endothelin signaling pathway  (EXP)
ephrin - ephrin receptor bidirectional signaling axis   (EXP)
epidermal growth factor/neuregulin signaling pathway  (EXP,IEA)
erythropoietin signaling pathway  (EXP)
Fc epsilon receptor mediated signaling pathway  (EXP)
glioma pathway  (IEA)
gonadotropin-releasing hormone signaling pathway  (IEA)
granulocyte-macrophage colony-stimulating factor signaling pathway  (EXP)
hepatitis C pathway   (IEA)
insulin signaling pathway  (EXP,IEA)
insulin-like growth factor signaling pathway  (EXP)
interleukin-2 signaling pathway  (EXP)
long term depression  (IEA)
long term potentiation  (IEA)
melanoma pathway   (IEA)
mitogen activated protein kinase signaling pathway   (IEA)
mTOR signaling pathway  (EXP)
neurotrophic factor signaling pathway   (IEA)
non-small cell lung carcinoma pathway  (IEA)
phosphatidylinositol 3-kinase class I signaling pathway  (EXP)
platelet-derived growth factor signaling pathway   (EXP)
prostate cancer pathway   (IEA)
renal cell carcinoma pathway  (IEA)
syndecan signaling pathway  (EXP)
T cell receptor signaling pathway   (IEA)
the extracellular signal-regulated Raf/Mek/Erk signaling pathway  (TAS)
thyroid cancer pathway  (IEA)
urinary bladder cancer pathway   (IEA)
vascular endothelial growth factor signaling pathway  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal dental enamel morphology  (IAGP)
Abnormal dental morphology  (IAGP)
Abnormal dermatoglyphics  (IAGP)
Abnormal finger morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal hair morphology  (IAGP)
Abnormal toe morphology  (IAGP)
Abnormality of dental color  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the skin  (IAGP)
Abnormality of vision  (IAGP)
Acanthosis nigricans  (IAGP)
Achilles tendon contracture  (IAGP)
Acute myeloid leukemia  (IAGP)
Adenoma sebaceum  (IAGP)
Alopecia  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Arachnoid cyst  (IAGP)
Arrhythmia  (IAGP)
Asymmetric growth  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Barrel-shaped chest  (IAGP)
Basal cell carcinoma  (IAGP)
Biparietal narrowing  (IAGP)
Bladder carcinoma  (IAGP)
Bladder neoplasm  (IAGP)
Blue nevus  (IAGP)
Brachydactyly  (IAGP)
Broad forehead  (IAGP)
Broad nasal tip  (IAGP)
Bronchomalacia  (IAGP)
Cavernous hemangioma  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral calcification  (IAGP)
Cerebral cortical atrophy  (IAGP)
Chiari type I malformation  (IAGP)
Chronic lymphatic leukemia  (IAGP)
Coarctation of aorta  (IAGP)
Coarse facial features  (IAGP)
Coloboma  (IAGP)
Concave nail  (IAGP)
Congenital fibrosis of extraocular muscles  (IAGP)
Congenital giant melanocytic nevus  (IAGP)
Congenital onset  (IAGP)
Congenital posterior occipital alopecia  (IAGP)
Corneal opacity  (IAGP)
Cranial asymmetry  (IAGP)
Cryptorchidism  (IAGP)
Curly hair  (IAGP)
Cutaneous melanoma  (IAGP)
Dandy-Walker malformation  (IAGP)
Deep palmar crease  (IAGP)
Deep philtrum  (IAGP)
Deep plantar creases  (IAGP)
Deep-set nails  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Downslanted palpebral fissures  (IAGP)
EEG abnormality  (IAGP)
Enlarged cerebellum  (IAGP)
Enlarged vestibular aqueduct  (IAGP)
Epicanthus  (IAGP)
Epidermal nevus  (IAGP)
Everted lower lip vermilion  (IAGP)
Facial asymmetry  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fine hair  (IAGP)
Follicular thyroid carcinoma  (IAGP)
Fragile nails  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Gastric adenocarcinoma  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hyperpigmentation  (IAGP)
Genu recurvatum  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hemangioma  (IAGP)
Hemiatrophy  (IAGP)
Hemihypertrophy  (IAGP)
Hemimegalencephaly  (IAGP)
Hemiparesis  (IAGP)
Hemolytic anemia  (IAGP)
Hepatocellular carcinoma  (IAGP)
Heterochromia iridis  (IAGP)
High palate  (IAGP)
Hoarse voice  (IAGP)
Horseshoe kidney  (IAGP)
Hydrocephalus  (IAGP)
Hyperesthesia  (IAGP)
Hyperextensibility of the finger joints  (IAGP)
Hyperhidrosis  (IAGP)
Hyperkeratosis  (IAGP)
Hyperphosphaturia  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoglycemia  (IAGP)
Hypophosphatemic rickets  (IAGP)
Hypopigmentation of the skin  (IAGP)
Hypoplastic toenails  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Increased red cell osmotic fragility  (IAGP)
Intellectual disability  (IAGP)
Iris coloboma  (IAGP)
Irregular hyperpigmentation  (IAGP)
Joint hypermobility  (IAGP)
Keratoconus  (IAGP)
Kyphoscoliosis  (IAGP)
Lack of skin elasticity  (IAGP)
Large earlobe  (IAGP)
Large face  (IAGP)
Limited elbow movement  (IAGP)
Linear nevus sebaceous  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Lung adenocarcinoma  (IAGP)
Lymphangiectasis  (IAGP)
Lymphedema  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Melanocytic nevus  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Mitral valve prolapse  (IAGP)
Multiple myeloma  (IAGP)
Narrow nasal ridge  (IAGP)
Narrow palate  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the large intestine  (IAGP)
Neoplasm of the thyroid gland  (IAGP)
Nephroblastoma  (IAGP)
Neurodevelopmental delay  (IAGP)
Nevus  (IAGP)
Nevus sebaceous  (IAGP)
Nevus spilus  (IAGP)
Non-medullary thyroid carcinoma  (IAGP)
Non-small cell lung carcinoma  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Numerous nevi  (IAGP)
Obstructive sleep apnea  (IAGP)
Open mouth  (IAGP)
Ophthalmoplegia  (IAGP)
Osteopenia  (IAGP)
Ovarian neoplasm  (IAGP)
Overgrowth  (IAGP)
Pancreatic adenocarcinoma  (IAGP)
Papillary thyroid carcinoma  (IAGP)
Papilloma  (IAGP)
Parathyroid adenoma  (IAGP)
Patchy alopecia  (IAGP)
Patchy hypopigmentation of hair  (IAGP)
Pectus carinatum  (IAGP)
Periorbital fullness  (IAGP)
Persistent pupillary membrane  (IAGP)
Pheochromocytoma  (IAGP)
Plagiocephaly  (IAGP)
Pneumothorax  (IAGP)
Pointed chin  (IAGP)
Polyhydramnios  (IAGP)
Poor suck  (IAGP)
Porencephalic cyst  (IAGP)
Posteriorly rotated ears  (IAGP)
Precocious puberty  (IAGP)
Premature birth  (IAGP)
Prominence of the premaxilla  (IAGP)
Prominent forehead  (IAGP)
Prominent occiput  (IAGP)
Ptosis  (IAGP)
Pulmonic stenosis  (IAGP)
Pyloric stenosis  (IAGP)
Raynaud phenomenon  (IAGP)
Recurrent fractures  (IAGP)
Reduced tendon reflexes  (IAGP)
Redundant neck skin  (IAGP)
Redundant skin  (IAGP)
Renal insufficiency  (IAGP)
Renal transitional cell carcinoma  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Rhabdomyosarcoma  (IAGP)
Round face  (IAGP)
Salivary gland neoplasm  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Sparse hair  (IAGP)
Spina bifida  (IAGP)
Sporadic  (IAGP)
Squamous cell lung carcinoma  (IAGP)
Strabismus  (IAGP)
Sudden death  (IAGP)
Talipes equinovarus  (IAGP)
Telecanthus  (IAGP)
Thick lower lip vermilion  (IAGP)
Thickened Achilles tendon  (IAGP)
Thickened nuchal skin fold  (IAGP)
Thin nail  (IAGP)
Tracheomalacia  (IAGP)
Transitional cell carcinoma of the bladder  (IAGP)
Typified by somatic mosaicism  (IAGP)
Ulnar deviation of finger  (IAGP)
Unilateral renal hypoplasia  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Verrucous epidermal nevus  (IAGP)
Vertebral segmentation defect  (IAGP)
Vestibular schwannoma  (IAGP)
Webbed neck  (IAGP)
Wide anterior fontanel  (IAGP)
Widely-spaced incisors  (IAGP)
Woolly hair  (IAGP)
Woolly scalp hair  (IAGP)
References

References - curated
# Reference Title Reference Citation
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3. c-H-ras and c-K-ras gene hypomethylation in the livers and hepatomas of rats fed methyl-deficient, amino acid-defined diets. Bhave MR, etal., Carcinogenesis. 1988 Mar;9(3):343-8. doi: 10.1093/carcin/9.3.343.
4. Predicting Recurrence and Progression of Noninvasive Papillary Bladder Cancer at Initial Presentation Based on Quantitative Gene Expression Profiles. Birkhahn M, etal., Eur Urol. 2009 Sep 9.
5. Activation of RAS family genes in urothelial carcinoma. Boulalas I, etal., J Urol. 2009 May;181(5):2312-9. Epub 2009 Mar 19.
6. Increased H-ras mutation frequency in mammary tumors of rats initiated with N-methyl-N-nitrosourea (MNU) and treated with acrylamide. Cho YM, etal., J Toxicol Sci. 2009 Oct;34(4):407-12.
7. Studies of the c-Harvey-Ras gene in psychiatric disorders. Comings DE, etal., Psychiatry Res. 1996 Jun 26;63(1):25-32.
8. High mutation frequency in ras genes of skin tumors isolated from DNA repair deficient xeroderma pigmentosum patients. Daya-Grosjean L, etal., Cancer Res. 1993 Apr 1;53(7):1625-9.
9. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
10. Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors. Goriely A, etal., Nat Genet. 2009 Nov;41(11):1247-52. Epub 2009 Oct 25.
11. TP53 and KRAS2 mutations in plasma DNA of healthy subjects and subsequent cancer occurrence: a prospective study. Gormally E, etal., Cancer Res. 2006 Jul 1;66(13):6871-6.
12. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences. Gripp KW, etal., Am J Med Genet A. 2015 Sep;167A(9):2085-97. doi: 10.1002/ajmg.a.37128. Epub 2015 Apr 25.
13. Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. Groesser L, etal., Nat Genet. 2012 Jun 10;44(7):783-7. doi: 10.1038/ng.2316.
14. Possible association of c-Harvey-Ras-1 (HRAS-1) marker with autism. Herault J, etal., Psychiatry Res 1993 Mar;46(3):261-7.
15. Frequency of Ha-ras-1 gene mutations inversely correlated with furan dose in mouse liver tumors. Johansson E, etal., Mol Carcinog. 1997 Apr;18(4):199-205.
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18. Mouse induced glioma-initiating cell models and therapeutic targets. Kondo T, Anticancer Agents Med Chem. 2010 Jul;10(6):471-80.
19. Modulation of apoptosis, tumorigenesity and metastatic potential with antisense H-ras oligodeoxynucleotides in a high metastatic tumor model of hepatoma: LCI-D20. Liao Y, etal., Hepatogastroenterology. 2000 Mar-Apr;47(32):365-70.
20. Activation of ras oncogene in livers with cirrhosis. Liu P, etal., J Hepatol. 1994 Dec;21(6):1103-8.
21. Aberrant expression of nNOS in pyramidal neurons in Alzheimer's disease is highly co-localized with p21ras and p16INK4a. Luth HJ, etal., Brain Res. 2000 Jan 3;852(1):45-55.
22. Down-regulation of K-ras and H-ras in human brain gliomas. Lymbouridou R, etal., Eur J Cancer. 2009 May;45(7):1294-303. doi: 10.1016/j.ejca.2008.12.028. Epub 2009 Jan 27.
23. Transcriptional activation of H- and N-ras oncogenes in human cervical cancer. Mammas IN, etal., Gynecol Oncol. 2004 Mar;92(3):941-8.
24. Expression of ras p21 in the stromal cells of human neoplastic endometrium. Miturski R, etal., Eur J Gynaecol Oncol. 1998;19(3):308-11.
25. Enhancement of tongue carcinogenesis in Hras128 transgenic rats treated with 4-nitroquinoline 1-oxide. Naoi K, etal., Oncol Rep. 2010 Feb;23(2):337-44.
26. Increased expression of c-myc and c-Ha-ras in dichloroacetate and trichloroacetate-induced liver tumors in B6C3F1 mice. Nelson MA, etal., Toxicology. 1990 Oct;64(1):47-57.
27. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
28. [Immunohistochemical detection of p21ras, c-myc and p53 oncoproteins in hepatocellular carcinoma and in non-neoplastic liver tissue]. Pannain VL, etal., Arq Gastroenterol. 2004 Oct-Dec;41(4):225-8. doi: /S0004-28032004000400005. Epub 2005 Mar 29.
29. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
30. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
31. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
32. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
33. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
34. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
35. MEK1/2 dual-specificity protein kinases: Structure and regulation. Roskoski R Jr Biochem Biophys Res Commun. 2012 Jan 6;417(1):5-10. Epub 2011 Dec 8.
36. Frequent activating HRAS mutations in trichilemmoma. Tsai JH, etal., Br J Dermatol. 2014 Nov;171(5):1073-7. doi: 10.1111/bjd.13143. Epub 2014 Sep 30.
37. Susceptibility of experimental autoimmune hepatitis in transgenic mice overexpressing the c-H-ras gene. Tsunematsu S, etal., J Gastroenterol Hepatol. 1997 Apr;12(4):319-24.
38. Diabetes enhances the expression of H-ras and suppresses the expression of EGFR leading to increased cell proliferation. Vairaktaris E, etal., Histol Histopathol. 2009 May;24(5):531-9.
39. Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. van Steensel MA, etal., Exp Dermatol. 2006 Sep;15(9):731-4.
40. ras gene mutations in human endometrial carcinoma. Varras MN, etal., Oncology. 1996 Nov-Dec;53(6):505-10. doi: 10.1159/000227627.
41. MiR-181d acts as a tumor suppressor in glioma by targeting K-ras and Bcl-2. Wang XF, etal., J Cancer Res Clin Oncol. 2012 Apr;138(4):573-84. doi: 10.1007/s00432-011-1114-x. Epub 2011 Dec 30.
Additional References at PubMed
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PMID:22909976   PMID:22920169   PMID:22926243   PMID:22939629   PMID:22982396   PMID:23009572   PMID:23027131   PMID:23028055   PMID:23046202   PMID:23063714   PMID:23096709   PMID:23096712  
PMID:23129805   PMID:23150177   PMID:23168708   PMID:23240926   PMID:23248241   PMID:23264394   PMID:23317213   PMID:23324341   PMID:23335589   PMID:23337891   PMID:23382219   PMID:23396970  
PMID:23429430   PMID:23459937   PMID:23477374   PMID:23487764   PMID:23496764   PMID:23498955   PMID:23512829   PMID:23548900   PMID:23561972   PMID:23583409   PMID:23599145   PMID:23617461  
PMID:23640968   PMID:23648844   PMID:23706742   PMID:23722551   PMID:23726918   PMID:23739246   PMID:23868059   PMID:23884447   PMID:23918800   PMID:23934677   PMID:23946963   PMID:23953123  
PMID:24000146   PMID:24006476   PMID:24057668   PMID:24096320   PMID:24123531   PMID:24129065   PMID:24169525   PMID:24222113   PMID:24224811   PMID:24247240   PMID:24259709   PMID:24277618  
PMID:24341335   PMID:24371145   PMID:24390138   PMID:24412244   PMID:24441586   PMID:24454781   PMID:24516166   PMID:24535843   PMID:24637993   PMID:24641407   PMID:24648519   PMID:24684458  
PMID:24696319   PMID:24722188   PMID:24746824   PMID:24819468   PMID:24884338   PMID:24908601   PMID:24912918   PMID:24929361   PMID:24990945   PMID:25026275   PMID:25062109   PMID:25072932  
PMID:25086355   PMID:25097040   PMID:25109485   PMID:25133308   PMID:25158650   PMID:25241761   PMID:25267792   PMID:25435281   PMID:25533468   PMID:25616580   PMID:25631751   PMID:25640309  
PMID:25684575   PMID:25695162   PMID:25713064   PMID:25762011   PMID:25774517   PMID:25778922   PMID:25893378   PMID:25902334   PMID:25999467   PMID:26165597   PMID:26186194   PMID:26253102  
PMID:26274561   PMID:26413934   PMID:26419841   PMID:26500057   PMID:26522772   PMID:26544513   PMID:26560143   PMID:26565026   PMID:26568031   PMID:26617336   PMID:26620726   PMID:26635368  
PMID:26636543   PMID:26674223   PMID:26721396   PMID:26773571   PMID:26799184   PMID:26804118   PMID:26858456   PMID:26872011   PMID:26888048   PMID:26969876   PMID:27034005   PMID:27057007  
PMID:27067779   PMID:27074591   PMID:27102959   PMID:27119512   PMID:27165221   PMID:27195699   PMID:27259243   PMID:27283898   PMID:27379604   PMID:27412770   PMID:27432908   PMID:27517622  
PMID:27535135   PMID:27684187   PMID:27689252   PMID:27911734   PMID:27913610   PMID:27936046   PMID:27940666   PMID:27941888   PMID:28116986   PMID:28139825   PMID:28177880   PMID:28177903  
PMID:28202657   PMID:28205554   PMID:28240361   PMID:28259994   PMID:28263956   PMID:28337834   PMID:28371260   PMID:28498561   PMID:28514442   PMID:28515318   PMID:28554764   PMID:28630043  
PMID:28799801   PMID:28856719   PMID:28864536   PMID:28939768   PMID:29062045   PMID:29135520   PMID:29140794   PMID:29172991   PMID:29420297   PMID:29739933   PMID:29760048   PMID:29791485  
PMID:30037981   PMID:30049443   PMID:30150369   PMID:30194290   PMID:30442762   PMID:30442766   PMID:30481304   PMID:30518913   PMID:30639242   PMID:30655611   PMID:30762279   PMID:30762338  
PMID:30787043   PMID:30865892   PMID:30994537   PMID:31160609   PMID:31222966   PMID:31337872   PMID:31358828   PMID:31506952   PMID:31526156   PMID:31534544   PMID:31655292   PMID:31680412  
PMID:31871319   PMID:31879129   PMID:31937562   PMID:31960612   PMID:32111352   PMID:32227276   PMID:32296183   PMID:32557577   PMID:32621833   PMID:32636318   PMID:32760207   PMID:32814053  
PMID:32970285   PMID:33239721   PMID:33300198   PMID:33544116   PMID:33549031   PMID:33582555   PMID:33602932   PMID:33620658   PMID:33750196   PMID:33961781   PMID:33989885   PMID:34102474  
PMID:34215617   PMID:34356620   PMID:34389744   PMID:34407391   PMID:34496925   PMID:34508588   PMID:34591612   PMID:34591642   PMID:34618388   PMID:34680178   PMID:34845155   PMID:34948093  
PMID:35230976   PMID:35621690   PMID:35764878   PMID:35981076   PMID:36480093   PMID:36585710   PMID:36604567   PMID:36743926   PMID:36753744   PMID:36995904   PMID:37013448   PMID:37192201  
PMID:37194190   PMID:37317656   PMID:37665491   PMID:37820992   PMID:38182928   PMID:38502412   PMID:38757223  


Genomics

Comparative Map Data
HRAS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811532,242 - 535,576 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11532,242 - 537,321 (-)EnsemblGRCh38hg38GRCh38
GRCh3711532,242 - 535,576 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611522,242 - 525,550 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411522,242 - 525,550NCBI
Celera11594,708 - 598,010 (-)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef11346,981 - 349,115 (-)NCBIHuRef
CHM1_111529,852 - 534,465 (-)NCBICHM1_1
T2T-CHM13v2.011579,238 - 582,554 (-)NCBIT2T-CHM13v2.0
Hras
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397140,770,839 - 140,773,938 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7140,769,018 - 140,773,918 (-)EnsemblGRCm39 Ensembl
GRCm387141,189,934 - 141,194,019 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7141,189,105 - 141,194,005 (-)EnsemblGRCm38mm10GRCm38
MGSCv377148,375,833 - 148,379,903 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367141,042,668 - 141,044,260 (-)NCBIMGSCv36mm8
Celera7140,983,643 - 140,987,701 (-)NCBICelera
Cytogenetic Map7F5NCBI
cM Map786.48NCBI
Hras
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81205,712,625 - 205,729,406 (-)NCBIGRCr8
mRatBN7.21196,290,127 - 196,299,823 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1196,296,263 - 196,300,615 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1204,641,764 - 204,645,046 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01211,768,581 - 211,771,863 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01204,442,715 - 204,445,997 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01214,178,404 - 214,181,841 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1214,178,407 - 214,181,686 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01221,095,943 - 221,099,362 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41201,385,705 - 201,388,987 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11201,540,000 - 201,542,640 (-)NCBI
Celera1193,930,281 - 193,933,583 (-)NCBICelera
RH 3.4 Map11437.21RGD
Cytogenetic Map1q41NCBI
Hras
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547611,508,126 - 11,510,333 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547611,508,446 - 11,510,333 (+)NCBIChiLan1.0ChiLan1.0
HRAS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v292,909,695 - 2,913,028 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1112,126,936 - 2,130,261 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011537,488 - 540,810 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111568,305 - 571,078 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11568,305 - 571,078 (-)Ensemblpanpan1.1panPan2
HRAS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11825,642,844 - 25,644,717 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1825,642,844 - 25,644,717 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1825,291,831 - 25,293,704 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01826,227,144 - 26,230,043 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1826,220,886 - 26,230,059 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11825,736,932 - 25,738,805 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01825,381,917 - 25,383,790 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01825,994,065 - 25,995,938 (-)NCBIUU_Cfam_GSD_1.0
Hras
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947375,371 - 378,065 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936888375,377 - 377,958 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936888375,372 - 378,125 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HRAS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2299,660 - 302,501 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12299,662 - 302,539 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HRAS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11343,613 - 345,782 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1343,506 - 346,637 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603897,407,188 - 97,410,502 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hras
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476621,911,241 - 21,913,653 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476621,907,423 - 21,913,414 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HRAS
626 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005343.4(HRAS):c.441G>A (p.Lys147=) single nucleotide variant Cardiovascular phenotype [RCV002330854]|Costello syndrome [RCV001494759]|not provided [RCV004707323] Chr11:533462 [GRCh38]
Chr11:533462 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) single nucleotide variant Costello syndrome [RCV000013447]|Epidermal nevus [RCV000032851]|Large congenital melanocytic nevus [RCV000762849]|Nevus sebaceous [RCV000029211]|RASopathy [RCV000149829]|not provided [RCV000212495] Chr11:534289 [GRCh38]
Chr11:534289 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|other
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) single nucleotide variant Costello syndrome [RCV001781319]|Epidermal nevus [RCV000032852]|Epidermolytic nevus [RCV003458340]|HRAS-related disorder [RCV004739310]|Linear nevus sebaceous syndrome [RCV000029213]|Lip and oral cavity carcinoma [RCV001255682]|NEVUS SPILUS, SOMATIC [RCV000173005]|Nevus sebaceous [RCV000029212]|Non-immune hydrops fetalis [RCV001376004]|Noonan syndrome and Noonan-related syndrome [RCV001813211]|SPITZ NEVUS, SOMATIC [RCV000173006]|cutaneous-skeletal hypophosphatemia syndrome [RCV001849283] Chr11:534286 [GRCh38]
Chr11:534286 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|other
NM_005343.4(HRAS):c.110_111+1dup duplication Costello syndrome [RCV000022797] Chr11:534210..534211 [GRCh38]
Chr11:534210..534211 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_005343.4(HRAS):c.108_110dup (p.Glu37dup) duplication Costello syndrome [RCV000022798] Chr11:534212..534213 [GRCh38]
Chr11:534212..534213 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) single nucleotide variant Cardiovascular phenotype [RCV004018622]|Costello syndrome [RCV000013432]|Epidermal nevus [RCV000032850]|HRAS-related disorder [RCV003415692]|Malignant tumor of urinary bladder [RCV000013431]|Myopathy, congenital, with excess of muscle spindles [RCV000013433]|not provided [RCV000157912] Chr11:534288 [GRCh38]
Chr11:534288 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|other
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) single nucleotide variant Epidermal nevus [RCV004562206]|Lip and oral cavity carcinoma [RCV001255683]|Noonan syndrome 3 [RCV000587258]|Spermatocytic seminoma [RCV000022795]|Thyroid cancer, nonmedullary, 2 [RCV000013434]|not provided [RCV000681435] Chr11:533875 [GRCh38]
Chr11:533875 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|other
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) single nucleotide variant Cardiovascular phenotype [RCV002453256]|Costello syndrome [RCV000013435]|Epidermal nevus [RCV003450636]|Epidermal nevus with urothelial cancer, somatic [RCV000022796]|HRAS-related disorder [RCV003398496]|Large congenital melanocytic nevus [RCV004795404]|Lip and oral cavity carcinoma [RCV001255689]|Myopathy, congenital, with excess of muscle spindles [RCV000013436]|Nevus sebaceous [RCV000029209]|Noonan syndrome 1 [RCV003450635]|Noonan syndrome and Noonan-related syndrome [RCV001813185]|RASopathy [RCV000149828]|Rhabdomyosarcoma [RCV001257537]|See cases [RCV003156059]|Wooly hair nevus [RCV000487471]|not provided [RCV000081295] Chr11:534289 [GRCh38]
Chr11:534289 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|other
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) single nucleotide variant Costello syndrome [RCV000013437]|Inborn genetic diseases [RCV000623953]|Large congenital melanocytic nevus [RCV000762848]|Noonan syndrome and Noonan-related syndrome [RCV001813186]|Rhabdomyosarcoma [RCV001257536]|not provided [RCV000207503] Chr11:534288 [GRCh38]
Chr11:534288 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) single nucleotide variant Costello syndrome [RCV000013438]|HRAS-related disorder [RCV003390677]|Large congenital melanocytic nevus [RCV002476960]|Non-immune hydrops fetalis [RCV001376018]|Noonan syndrome and Noonan-related syndrome [RCV001813187]|RASopathy [RCV000781469]|not provided [RCV000157913] Chr11:534285 [GRCh38]
Chr11:534285 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|not provided
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) single nucleotide variant Costello syndrome [RCV000013441] Chr11:533467 [GRCh38]
Chr11:533467 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_005343.4(HRAS):c.187G>A (p.Glu63Lys) single nucleotide variant Costello syndrome [RCV002272015]|Myopathy, congenital, with excess of muscle spindles [RCV000013442]|not provided [RCV000485616] Chr11:533869 [GRCh38]
Chr11:533869 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) single nucleotide variant Costello syndrome [RCV000143898]|Myopathy, congenital, with excess of muscle spindles [RCV000013443]|not provided [RCV000157915] Chr11:534259 [GRCh38]
Chr11:534259 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) single nucleotide variant Costello syndrome [RCV000013445] Chr11:533466 [GRCh38]
Chr11:533466 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) single nucleotide variant Costello syndrome [RCV000038460]|Costello syndrome, severe [RCV000013446]|HRAS-related disorder [RCV004739303]|Lip and oral cavity carcinoma [RCV001255681]|Nevus sebaceous [RCV000029210]|Non-immune hydrops fetalis [RCV001375956]|Noonan syndrome and Noonan-related syndrome [RCV001813189]|RASopathy [RCV000149830]|not provided [RCV000212496] Chr11:534288 [GRCh38]
Chr11:534288 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|other
NM_005343.4(HRAS):c.290+9C>T single nucleotide variant Costello syndrome [RCV001425103] Chr11:533757 [GRCh38]
Chr11:533757 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.518C>T (p.Pro173Leu) single nucleotide variant Costello syndrome [RCV000526328]|Intellectual disability [RCV001260727] Chr11:532688 [GRCh38]
Chr11:532688 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.350A>G (p.Lys117Arg) single nucleotide variant Costello syndrome [RCV000013439]|not provided [RCV000353386] Chr11:533553 [GRCh38]
Chr11:533553 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) single nucleotide variant Costello syndrome [RCV000013440]|HRAS-related disorder [RCV003421918]|Large congenital melanocytic nevus [RCV000762847]|Linear nevus sebaceous syndrome [RCV004767004]|Noonan syndrome [RCV000678903]|Noonan syndrome and Noonan-related syndrome [RCV001813188]|RASopathy [RCV000149831]|not provided [RCV000207504] Chr11:534286 [GRCh38]
Chr11:534286 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) single nucleotide variant Costello syndrome [RCV000013444]|HRAS-related disorder [RCV004724738]|not provided [RCV003221783] Chr11:533883 [GRCh38]
Chr11:533883 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_005343.4(HRAS):c.187_207dup (p.Glu63_Asp69dup) duplication Costello syndrome [RCV000106320] Chr11:533848..533849 [GRCh38]
Chr11:533848..533849 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_005343.4(HRAS):c.330C>T (p.Pro110=) single nucleotide variant Cardiovascular phenotype [RCV002321512]|Costello syndrome [RCV000467667]|HRAS-related disorder [RCV004739326]|Large congenital melanocytic nevus [RCV002490523]|Noonan syndrome and Noonan-related syndrome [RCV001813351]|not specified [RCV000038457] Chr11:533573 [GRCh38]
Chr11:533573 [GRCh37]
Chr11:11p15.5		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005343.4(HRAS):c.111+15G>A single nucleotide variant Costello syndrome [RCV002054538]|not provided [RCV001636610]|not specified [RCV000038454] Chr11:534197 [GRCh38]
Chr11:534197 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.249C>T (p.Ala83=) single nucleotide variant Cardiovascular phenotype [RCV003162337]|Costello syndrome [RCV000531092]|HRAS-related disorder [RCV003964858]|Hereditary cancer-predisposing syndrome [RCV002257382]|not provided [RCV004597734]|not specified [RCV000038455] Chr11:533807 [GRCh38]
Chr11:533807 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.282C>T (p.His94=) single nucleotide variant Cardiovascular phenotype [RCV002433504]|Costello syndrome [RCV001458613]|HRAS-related disorder [RCV003894865]|not provided [RCV005243107]|not specified [RCV000038456] Chr11:533774 [GRCh38]
Chr11:533774 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.357C>T (p.Asp119=) single nucleotide variant Cardiovascular phenotype [RCV002453280]|Costello syndrome [RCV000227939]|HRAS-related disorder [RCV003924885]|Hereditary cancer-predisposing syndrome [RCV002257371]|Large congenital melanocytic nevus [RCV002477043]|Noonan syndrome and Noonan-related syndrome [RCV001813236]|RASopathy [RCV000522686]|not provided [RCV001711139]|not specified [RCV000038458] Chr11:533546 [GRCh38]
Chr11:533546 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_005343.4(HRAS):c.358C>T (p.Leu120=) single nucleotide variant Cardiovascular phenotype [RCV003362675]|Costello syndrome [RCV000457956]|not specified [RCV000038459] Chr11:533545 [GRCh38]
Chr11:533545 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.363T>C (p.Ala121=) single nucleotide variant Cardiovascular phenotype [RCV004018873]|Costello syndrome [RCV000560800]|Noonan syndrome and Noonan-related syndrome [RCV001813352]|not provided [RCV001659973]|not specified [RCV000038461] Chr11:533540 [GRCh38]
Chr11:533540 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_005343.4(HRAS):c.378A>G (p.Glu126=) single nucleotide variant Cardiovascular phenotype [RCV002345262]|Costello syndrome [RCV001081660]|Noonan syndrome and Noonan-related syndrome [RCV001813237]|RASopathy [RCV000519017]|not provided [RCV000588072]|not specified [RCV000038462] Chr11:533525 [GRCh38]
Chr11:533525 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_005343.4(HRAS):c.401C>T (p.Ala134Val) single nucleotide variant Costello syndrome [RCV000230783]|not specified [RCV000038463] Chr11:533502 [GRCh38]
Chr11:533502 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) single nucleotide variant Cardiovascular phenotype [RCV004018874]|Costello syndrome [RCV000548489]|HRAS-related disorder [RCV003421952]|Hereditary cancer-predisposing syndrome [RCV002257383]|Large congenital melanocytic nevus [RCV005049407]|RASopathy [RCV001030071]|not provided [RCV000681055]|not specified [RCV000038464] Chr11:533491 [GRCh38]
Chr11:533491 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.477G>A (p.Leu159=) single nucleotide variant Cardiovascular phenotype [RCV002336104]|Costello syndrome [RCV000234776]|Hereditary cancer-predisposing syndrome [RCV002257372]|Noonan syndrome and Noonan-related syndrome [RCV001813238]|RASopathy [RCV000522477]|not provided [RCV001538584]|not specified [RCV000038465] Chr11:532729 [GRCh38]
Chr11:532729 [GRCh37]
Chr11:11p15.5		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005343.4(HRAS):c.510G>A (p.Lys170=) single nucleotide variant Cardiovascular phenotype [RCV003162338]|Costello syndrome [RCV000473658]|RASopathy [RCV000520548]|not specified [RCV000038466] Chr11:532696 [GRCh38]
Chr11:532696 [GRCh37]
Chr11:11p15.5		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) single nucleotide variant Costello syndrome [RCV000234040]|HRAS-related disorder [RCV003944865]|Hereditary cancer-predisposing syndrome [RCV002258783]|Large congenital melanocytic nevus [RCV000755642]|RASopathy [RCV000520658]|not specified [RCV000038467] Chr11:532686 [GRCh38]
Chr11:532686 [GRCh37]
Chr11:11p15.5		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005343.4(HRAS):c.81T>C (p.His27=) single nucleotide variant Cardiovascular phenotype [RCV002426537]|Costello syndrome [RCV000659682]|Noonan syndrome and Noonan-related syndrome [RCV001813233]|RASopathy [RCV000149841]|Squamous cell lung carcinoma [RCV001250943]|not provided [RCV000509400]|not specified [RCV000038468] Chr11:534242 [GRCh38]
Chr11:534242 [GRCh37]
Chr11:11p15.5		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 copy number gain See cases [RCV000050947] Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 copy number gain See cases [RCV000053614] Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
NM_005343.4(HRAS):c.473C>T (p.Thr158Met) single nucleotide variant Costello syndrome [RCV000813562]|not provided [RCV004696851]|not specified [RCV000121201] Chr11:532733 [GRCh38]
Chr11:532733 [GRCh37]
Chr11:11p15.5		 uncertain significance|not provided
NM_005343.4(HRAS):c.-10C>T single nucleotide variant Costello syndrome [RCV002512524]|Noonan syndrome and Noonan-related syndrome [RCV001813385]|not provided [RCV000509255]|not specified [RCV000154268] Chr11:534332 [GRCh38]
Chr11:534332 [GRCh37]
Chr11:11p15.5		 benign|not provided
NM_005343.4(HRAS):c.*1C>T single nucleotide variant HRAS-related disorder [RCV003894980]|not provided [RCV000588758]|not specified [RCV000125382] Chr11:532635 [GRCh38]
Chr11:532635 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_005343.4(HRAS):c.*5+14C>A single nucleotide variant not specified [RCV000125383] Chr11:532617 [GRCh38]
Chr11:532617 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.44G>A (p.Gly15Asp) single nucleotide variant Vascular Tumors Including Pyogenic Granuloma [RCV000662271] Chr11:534279 [GRCh38]
Chr11:534279 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.236T>A (p.Leu79Gln) single nucleotide variant Costello syndrome [RCV001312421] Chr11:533820 [GRCh38]
Chr11:533820 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.145G>A (p.Glu49Lys) single nucleotide variant Costello syndrome [RCV002530595]|Vascular Tumors Including Pyogenic Granuloma [RCV000662269] Chr11:533911 [GRCh38]
Chr11:533911 [GRCh37]
Chr11:11p15.5		 likely pathogenic|uncertain significance
NM_005343.4(HRAS):c.277A>G (p.Ile93Val) single nucleotide variant Costello syndrome [RCV000524082]|Pulmonic stenosis [RCV000143899]|RASopathy [RCV004760351]|not provided [RCV000157920] Chr11:533779 [GRCh38]
Chr11:533779 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 copy number gain See cases [RCV000142923] Chr11:196855..2116185 [GRCh38]
Chr11:196855..2137415 [GRCh37]
Chr11:186855..2093991 [NCBI36]
Chr11:11p15.5		 pathogenic
NM_005343.4(HRAS):c.45C>T (p.Gly15=) single nucleotide variant Costello syndrome [RCV000818776]|HRAS-related disorder [RCV003952786]|Hereditary cancer-predisposing syndrome [RCV002257458]|not provided [RCV000585962]|not specified [RCV000155869] Chr11:534278 [GRCh38]
Chr11:534278 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.175_176delinsCT (p.Ala59Leu) indel Costello syndrome [RCV000156047] Chr11:533880..533881 [GRCh38]
Chr11:533880..533881 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_005343.4(HRAS):c.450+84C>A single nucleotide variant not specified [RCV000156318] Chr11:533369 [GRCh38]
Chr11:533369 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.112-10C>T single nucleotide variant Costello syndrome [RCV000637313]|not specified [RCV000150833] Chr11:533954 [GRCh38]
Chr11:533954 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) single nucleotide variant Costello syndrome [RCV000150835]|Non-small cell lung carcinoma [RCV000150834]|RASopathy [RCV004760350] Chr11:533881 [GRCh38]
Chr11:533881 [GRCh37]
Chr11:11p15.5		 likely pathogenic|conflicting interpretations of pathogenicity
NM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu) indel Costello syndrome [RCV000150836]|not provided [RCV000255809] Chr11:534287..534288 [GRCh38]
Chr11:534287..534288 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NC_000011.9:g.(?_532631)_(534375_?)dup duplication not specified [RCV000156408] Chr11:532631..534375 [GRCh38]
Chr11:532631..534375 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) single nucleotide variant Costello syndrome [RCV001085194]|HRAS-related disorder [RCV003944864]|Hereditary cancer-predisposing syndrome [RCV002257370]|Noonan syndrome [RCV001261051]|Noonan syndrome and Noonan-related syndrome [RCV001813234]|RASopathy [RCV000519779]|not provided [RCV000680288]|not specified [RCV000154506] Chr11:533799 [GRCh38]
Chr11:533799 [GRCh37]
Chr11:11p15.5		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) single nucleotide variant Cardiovascular phenotype [RCV002345496]|Costello syndrome [RCV000803493]|Large congenital melanocytic nevus [RCV002505170]|not specified [RCV000154576] Chr11:532701 [GRCh38]
Chr11:532701 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.36C>A (p.Gly12=) single nucleotide variant not specified [RCV000154620] Chr11:534287 [GRCh38]
Chr11:534287 [GRCh37]
Chr11:11p15.5		 not provided
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr) single nucleotide variant Cardiovascular phenotype [RCV004019863]|Costello syndrome [RCV000694918]|not specified [RCV000155632] Chr11:534292 [GRCh38]
Chr11:534292 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.450+171C>T single nucleotide variant not specified [RCV000156659] Chr11:533282 [GRCh38]
Chr11:533282 [GRCh37]
Chr11:11p15.5		 not provided
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) single nucleotide variant Costello syndrome [RCV000590121]|KA-like vemurafenib-induced squamous lesions [RCV001849323]|Large congenital melanocytic nevus [RCV004562310]|Linear nevus sebaceous syndrome [RCV004767097]|Lip and oral cavity carcinoma [RCV001255688]|not provided [RCV000157914] Chr11:534285 [GRCh38]
Chr11:534285 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_005343.4(HRAS):c.177C>T (p.Ala59=) single nucleotide variant Cardiovascular phenotype [RCV002408711]|Costello syndrome [RCV000470354]|Hereditary cancer-predisposing syndrome [RCV002258815]|Noonan syndrome and Noonan-related syndrome [RCV001813409]|not provided [RCV003390854]|not specified [RCV000157907] Chr11:533879 [GRCh38]
Chr11:533879 [GRCh37]
Chr11:11p15.5		 benign|likely benign|conflicting interpretations of pathogenicity
NM_176795.5(HRAS):c.500C>T (p.Pro167Leu) single nucleotide variant not specified [RCV000157908] Chr11:533309 [GRCh38]
Chr11:533309 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) single nucleotide variant Costello syndrome [RCV000551172]|Large congenital melanocytic nevus [RCV002477044]|not provided [RCV000157909] Chr11:532698 [GRCh38]
Chr11:532698 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.*6-2A>C single nucleotide variant not specified [RCV000157910] Chr11:532524 [GRCh38]
Chr11:532524 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.179G>A (p.Gly60Asp) single nucleotide variant Costello syndrome [RCV001387769]|not provided [RCV000157917] Chr11:533877 [GRCh38]
Chr11:533877 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln) single nucleotide variant Costello syndrome [RCV000557317]|not provided [RCV004696860]|not specified [RCV002271424] Chr11:533853 [GRCh38]
Chr11:533853 [GRCh37]
Chr11:11p15.5		 likely pathogenic|uncertain significance
NM_005343.4(HRAS):c.317C>G (p.Ser106Trp) single nucleotide variant Cardiovascular phenotype [RCV002321658]|Costello syndrome [RCV000816581]|not provided [RCV000157921] Chr11:533586 [GRCh38]
Chr11:533586 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) single nucleotide variant Costello syndrome [RCV000471505]|Large congenital melanocytic nevus [RCV005049434]|not provided [RCV000157922]|not specified [RCV000606057] Chr11:533536 [GRCh38]
Chr11:533536 [GRCh37]
Chr11:11p15.5		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005343.4(HRAS):c.368G>C (p.Arg123Pro) single nucleotide variant Costello syndrome [RCV000533738]|Hereditary cancer-predisposing syndrome [RCV002257459] Chr11:533535 [GRCh38]
Chr11:533535 [GRCh37]
Chr11:11p15.5		 likely pathogenic|uncertain significance
NM_005343.4(HRAS):c.544A>G (p.Met182Val) single nucleotide variant Costello syndrome [RCV001219043]|not provided [RCV000157924] Chr11:532662 [GRCh38]
Chr11:532662 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.35_36delinsAT (p.Gly12Asp) indel not provided [RCV001678586] Chr11:534287..534288 [GRCh38]
Chr11:534287..534288 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_005343.4(HRAS):c.362C>T (p.Ala121Val) single nucleotide variant Costello syndrome [RCV001850200]|not provided [RCV000157927] Chr11:533541 [GRCh38]
Chr11:533541 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln) single nucleotide variant Costello syndrome [RCV000463046]|HRAS-related disorder [RCV003390855]|Hereditary cancer-predisposing syndrome [RCV002258816]|Large congenital melanocytic nevus [RCV002492617]|not provided [RCV000505776] Chr11:532700 [GRCh38]
Chr11:532700 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.35_36delinsCT (p.Gly12Ala) indel not provided [RCV000157929] Chr11:534287..534288 [GRCh38]
Chr11:534287..534288 [GRCh37]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5(chr11:532230-699463)x3 copy number gain See cases [RCV000240134] Chr11:532230..699463 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_005343.4(HRAS):c.36C>T (p.Gly12=) single nucleotide variant Costello syndrome [RCV000207496]|HRAS-related disorder [RCV003927887]|Noonan syndrome and Noonan-related syndrome [RCV001813428]|RASopathy [RCV000522904]|not provided [RCV000586057] Chr11:534287 [GRCh38]
Chr11:534287 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005343.4(HRAS):c.266C>G (p.Ser89Cys) single nucleotide variant not provided [RCV000207497] Chr11:533790 [GRCh38]
Chr11:533790 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_005343.4(HRAS):c.214A>C (p.Met72Leu) single nucleotide variant Costello syndrome [RCV005056501]|not provided [RCV000756250] Chr11:533842 [GRCh38]
Chr11:533842 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.186_206dup (p.Glu62_Arg68dup) duplication Costello syndrome [RCV000546898] Chr11:533849..533850 [GRCh38]
Chr11:533849..533850 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|uncertain significance
NM_005343.4(HRAS):c.468C>T (p.Phe156=) single nucleotide variant Costello syndrome [RCV002517470]|not specified [RCV000223407] Chr11:532738 [GRCh38]
Chr11:532738 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.546G>A (p.Met182Ile) single nucleotide variant Costello syndrome [RCV000229010]|Large congenital melanocytic nevus [RCV005049496]|not specified [RCV003993902] Chr11:532660 [GRCh38]
Chr11:532660 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.174_192del (p.Gly60fs) deletion Costello syndrome [RCV000229731] Chr11:533864..533882 [GRCh38]
Chr11:533864..533882 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.339G>A (p.Leu113=) single nucleotide variant Costello syndrome [RCV001490462] Chr11:533564 [GRCh38]
Chr11:533564 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.4A>G (p.Thr2Ala) single nucleotide variant Costello syndrome [RCV000232309] Chr11:534319 [GRCh38]
Chr11:534319 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.290+6C>A single nucleotide variant Costello syndrome [RCV000232587] Chr11:533760 [GRCh38]
Chr11:533760 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.309G>A (p.Val103=) single nucleotide variant Costello syndrome [RCV000227548]|HRAS-related disorder [RCV003894842]|Noonan syndrome and Noonan-related syndrome [RCV001813235]|RASopathy [RCV000519223]|not provided [RCV001711138] Chr11:533594 [GRCh38]
Chr11:533594 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_005343.4(HRAS):c.498C>A (p.His166Gln) single nucleotide variant Costello syndrome [RCV000228331] Chr11:532708 [GRCh38]
Chr11:532708 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.111+6C>T single nucleotide variant Cardiovascular phenotype [RCV004020817]|Costello syndrome [RCV000227164] Chr11:534206 [GRCh38]
Chr11:534206 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.100C>T (p.Pro34Ser) single nucleotide variant Vascular Tumors Including Pyogenic Granuloma [RCV000662272] Chr11:534223 [GRCh38]
Chr11:534223 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.35_36delinsTA (p.Gly12Val) indel not provided [RCV000322736] Chr11:534287..534288 [GRCh38]
Chr11:534287..534288 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_005343.4(HRAS):c.291-6T>G single nucleotide variant Costello syndrome [RCV000872282]|HRAS-related disorder [RCV003962443]|Hereditary cancer-predisposing syndrome [RCV002257777]|Large congenital melanocytic nevus [RCV002497006]|RASopathy [RCV000521008]|not specified [RCV001255585] Chr11:533618 [GRCh38]
Chr11:533618 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_005343.4(HRAS):c.452G>C (p.Gly151Ala) single nucleotide variant Costello syndrome [RCV000525978] Chr11:532754 [GRCh38]
Chr11:532754 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.57G>C (p.Leu19=) single nucleotide variant Cardiovascular phenotype [RCV002356348]|Costello syndrome [RCV000874891]|not specified [RCV000244358] Chr11:534266 [GRCh38]
Chr11:534266 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.171T>C (p.Asp57=) single nucleotide variant Costello syndrome [RCV000871401]|Hereditary cancer-predisposing syndrome [RCV002258867]|not specified [RCV000246927] Chr11:533885 [GRCh38]
Chr11:533885 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.369C>T (p.Arg123=) single nucleotide variant Cardiovascular phenotype [RCV002347960]|Costello syndrome [RCV001079542]|Hereditary cancer-predisposing syndrome [RCV002257620]|Noonan syndrome and Noonan-related syndrome [RCV001813437]|RASopathy [RCV000520797]|not provided [RCV000588992]|not specified [RCV000242213] Chr11:533534 [GRCh38]
Chr11:533534 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_005343.4(HRAS):c.42G>A (p.Val14=) single nucleotide variant Cardiovascular phenotype [RCV002328743]|Costello syndrome [RCV000462480]|not provided [RCV001597013]|not specified [RCV000247431] Chr11:534281 [GRCh38]
Chr11:534281 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.64C>T (p.Gln22Ter) single nucleotide variant not provided [RCV000269895] Chr11:534259 [GRCh38]
Chr11:534259 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.112-13T>A single nucleotide variant Costello syndrome [RCV002069390]|not provided [RCV001683760]|not specified [RCV001269170] Chr11:533957 [GRCh38]
Chr11:533957 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.176C>G (p.Ala59Gly) single nucleotide variant RASopathy [RCV003238902] Chr11:533880 [GRCh38]
Chr11:533880 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_005343.4(HRAS):c.383G>C (p.Arg128Pro) single nucleotide variant Costello syndrome [RCV000637305] Chr11:533520 [GRCh38]
Chr11:533520 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.153C>T (p.Cys51=) single nucleotide variant Cardiovascular phenotype [RCV002404781]|Costello syndrome [RCV000637311] Chr11:533903 [GRCh38]
Chr11:533903 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys) single nucleotide variant Costello syndrome [RCV001322927]|Large congenital melanocytic nevus [RCV002483665]|not specified [RCV000598510] Chr11:534312 [GRCh38]
Chr11:534312 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.27_29dup (p.Gly10dup) duplication not provided [RCV000586325] Chr11:534293..534294 [GRCh38]
Chr11:534293..534294 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.111+14C>T single nucleotide variant Costello syndrome [RCV002064333]|not specified [RCV000600392] Chr11:534198 [GRCh38]
Chr11:534198 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.304C>T (p.Arg102Trp) single nucleotide variant Costello syndrome [RCV001369972]|not specified [RCV000414564] Chr11:533599 [GRCh38]
Chr11:533599 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.474G>A (p.Thr158=) single nucleotide variant Costello syndrome [RCV001463916] Chr11:532732 [GRCh38]
Chr11:532732 [GRCh37]
Chr11:11p15.5		 likely benign
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5(chr11:494540-616565)x3 copy number gain See cases [RCV000447296] Chr11:494540..616565 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu) single nucleotide variant Acute myeloid leukemia [RCV000435578]|B-cell chronic lymphocytic leukemia [RCV000420757]|Gastric adenocarcinoma [RCV000431015]|Hepatocellular carcinoma [RCV000427302]|Lung adenocarcinoma [RCV000444619]|Malignant melanoma of skin [RCV000422470]|Malignant neoplasm of body of uterus [RCV000442518]|Multiple myeloma [RCV000444550]|Neoplasm of the large intestine [RCV000437532]|Pancreatic adenocarcinoma [RCV000423098]|Squamous cell lung carcinoma [RCV000432499]|Thyroid tumor [RCV000424391]|Transitional cell carcinoma of the bladder [RCV000432733] Chr11:533875 [GRCh38]
Chr11:533875 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_005343.4(HRAS):c.426C>T (p.Ile142=) single nucleotide variant Cardiovascular phenotype [RCV002328927]|Costello syndrome [RCV002524810]|not provided [RCV000434218] Chr11:533477 [GRCh38]
Chr11:533477 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.54G>A (p.Ala18=) single nucleotide variant Cardiovascular phenotype [RCV002348170]|Costello syndrome [RCV001084746]|not provided [RCV000437756]|not specified [RCV001175031] Chr11:534269 [GRCh38]
Chr11:534269 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_005343.4(HRAS):c.179G>T (p.Gly60Val) single nucleotide variant Costello syndrome [RCV005090865]|Large congenital melanocytic nevus [RCV002060067]|not provided [RCV000443979] Chr11:533877 [GRCh38]
Chr11:533877 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_005343.4(HRAS):c.183G>T (p.Gln61His) single nucleotide variant Noonan syndrome 3 [RCV000589258] Chr11:533873 [GRCh38]
Chr11:533873 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_005343.4(HRAS):c.162C>T (p.Asp54=) single nucleotide variant Costello syndrome [RCV003514353]|HRAS-related disorder [RCV003897851]|not specified [RCV000438047] Chr11:533894 [GRCh38]
Chr11:533894 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.450+174G>A single nucleotide variant HRAS-related disorder [RCV003902493]|not provided [RCV000445288] Chr11:533279 [GRCh38]
Chr11:533279 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.*5+20C>T single nucleotide variant not provided [RCV004718629]|not specified [RCV000441723] Chr11:532611 [GRCh38]
Chr11:532611 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.182_183delinsGA (p.Gln61Arg) indel Neoplasm [RCV000418005] Chr11:533873..533874 [GRCh38]
Chr11:533873..533874 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_005343.4(HRAS):c.182_183delinsGT (p.Gln61Arg) indel Neoplasm [RCV000435225] Chr11:533873..533874 [GRCh38]
Chr11:533873..533874 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_005343.4(HRAS):c.183G>C (p.Gln61His) single nucleotide variant Neoplasm [RCV000428014] Chr11:533873 [GRCh38]
Chr11:533873 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_005343.4(HRAS):c.150G>A (p.Thr50=) single nucleotide variant Costello syndrome [RCV002061575]|not provided [RCV000428021] Chr11:533906 [GRCh38]
Chr11:533906 [GRCh37]
Chr11:11p15.5		 likely benign
GRCh37/hg19 11p15.5(chr11:532230-699404)x3 copy number gain See cases [RCV000445988] Chr11:532230..699404 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.234C>T (p.Phe78=) single nucleotide variant Costello syndrome [RCV002059794]|not provided [RCV000424616] Chr11:533822 [GRCh38]
Chr11:533822 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.450+18C>T single nucleotide variant Costello syndrome [RCV002059560]|not provided [RCV000442192] Chr11:533435 [GRCh38]
Chr11:533435 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.38G>C (p.Gly13Ala) single nucleotide variant Acute myeloid leukemia [RCV000424186]|B-cell chronic lymphocytic leukemia [RCV000426316]|Gastric adenocarcinoma [RCV000421384]|Hepatocellular carcinoma [RCV000445345]|Lung adenocarcinoma [RCV000434457]|Malignant neoplasm of body of uterus [RCV000434248]|Multiple myeloma [RCV000442365]|Neoplasm of the large intestine [RCV000440965]|Neoplasm of uterine cervix [RCV000433957]|Pancreatic adenocarcinoma [RCV000425652] Chr11:534285 [GRCh38]
Chr11:534285 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg) single nucleotide variant Costello syndrome [RCV002230756] Chr11:534289 [GRCh38]
Chr11:534289 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_005343.4(HRAS):c.-53-17A>G single nucleotide variant not provided [RCV000429334] Chr11:534392 [GRCh38]
Chr11:534392 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_005343.4(HRAS):c.291-8C>T single nucleotide variant Costello syndrome [RCV001084880]|not provided [RCV000433431] Chr11:533620 [GRCh38]
Chr11:533620 [GRCh37]
Chr11:11p15.5		 likely benign
NM_176795.5(HRAS):c.480C>T (p.Ser160=) single nucleotide variant not provided [RCV000423204] Chr11:533329 [GRCh38]
Chr11:533329 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.228G>A (p.Glu76=) single nucleotide variant Costello syndrome [RCV002063360]|not provided [RCV000423251] Chr11:533828 [GRCh38]
Chr11:533828 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) single nucleotide variant Costello syndrome [RCV001372584]|KA-like vemurafenib-induced squamous lesions [RCV001849368]|Lip and oral cavity carcinoma [RCV001255684] Chr11:533874 [GRCh38]
Chr11:533874 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|uncertain significance
NC_000011.9:g.(?_532631)_(532755_?)dup duplication Costello syndrome [RCV000474493] Chr11:532631..532755 [GRCh38]
Chr11:532631..532755 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.219C>T (p.Arg73=) single nucleotide variant Cardiovascular phenotype [RCV002431368]|Costello syndrome [RCV000471546]|HRAS-related disorder [RCV003899987]|not provided [RCV003392297]|not specified [RCV005239056] Chr11:533837 [GRCh38]
Chr11:533837 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.120C>T (p.Tyr40=) single nucleotide variant Costello syndrome [RCV000456682]|not provided [RCV001310581] Chr11:533936 [GRCh38]
Chr11:533936 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.398T>A (p.Leu133His) single nucleotide variant Cardiovascular phenotype [RCV002374788]|Costello syndrome [RCV000456787]|Linear nevus sebaceous syndrome [RCV001535653]|not provided [RCV000681068]|not specified [RCV003151066] Chr11:533505 [GRCh38]
Chr11:533505 [GRCh37]
Chr11:11p15.5		 uncertain significance|not provided
NM_005343.4(HRAS):c.156G>A (p.Leu52=) single nucleotide variant Cardiovascular phenotype [RCV004992255]|Costello syndrome [RCV000460380]|not provided [RCV001613309] Chr11:533900 [GRCh38]
Chr11:533900 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_005343.4(HRAS):c.537C>T (p.Pro179=) single nucleotide variant Cardiovascular phenotype [RCV004992254]|Costello syndrome [RCV000471783]|not provided [RCV001576338] Chr11:532669 [GRCh38]
Chr11:532669 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.391C>T (p.Gln131Ter) single nucleotide variant Costello syndrome [RCV000475366]|Large congenital melanocytic nevus [RCV005049560]|not provided [RCV002464203] Chr11:533512 [GRCh38]
Chr11:533512 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.106A>G (p.Ile36Val) single nucleotide variant Costello syndrome [RCV000475424] Chr11:534217 [GRCh38]
Chr11:534217 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.-95CGGCCC[1] microsatellite not specified [RCV000485121] Chr11:535446..535451 [GRCh38]
Chr11:535446..535451 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.534C>G (p.Gly178=) single nucleotide variant Cardiovascular phenotype [RCV002350036]|Costello syndrome [RCV000464492]|HRAS-related disorder [RCV003970343]|not provided [RCV001575546]|not specified [RCV001420905] Chr11:532672 [GRCh38]
Chr11:532672 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.16C>T (p.Leu6=) single nucleotide variant Cardiovascular phenotype [RCV002411554]|Costello syndrome [RCV001473659] Chr11:534307 [GRCh38]
Chr11:534307 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.516C>T (p.Asn172=) single nucleotide variant Costello syndrome [RCV000460869]|not specified [RCV000610082] Chr11:532690 [GRCh38]
Chr11:532690 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.451-5C>G single nucleotide variant Costello syndrome [RCV001078758]|not provided [RCV000681281] Chr11:532760 [GRCh38]
Chr11:532760 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005343.4(HRAS):c.519T>G (p.Pro173=) single nucleotide variant Costello syndrome [RCV000465686] Chr11:532687 [GRCh38]
Chr11:532687 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.448C>T (p.Gln150Ter) single nucleotide variant not provided [RCV000478173] Chr11:533455 [GRCh38]
Chr11:533455 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.312G>A (p.Lys104=) single nucleotide variant Cardiovascular phenotype [RCV004992256]|Costello syndrome [RCV000462463]|not provided [RCV001613310] Chr11:533591 [GRCh38]
Chr11:533591 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.317C>T (p.Ser106Leu) single nucleotide variant Costello syndrome [RCV000469881] Chr11:533586 [GRCh38]
Chr11:533586 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
NM_005343.4(HRAS):c.302A>G (p.Lys101Arg) single nucleotide variant Costello syndrome [RCV000705122]|not provided [RCV000494039] Chr11:533601 [GRCh38]
Chr11:533601 [GRCh37]
Chr11:11p15.5		 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_005343.4(HRAS):c.222C>T (p.Thr74=) single nucleotide variant Cardiovascular phenotype [RCV002431742]|Costello syndrome [RCV001082400]|not provided [RCV000586814] Chr11:533834 [GRCh38]
Chr11:533834 [GRCh37]
Chr11:11p15.5		 benign|likely benign
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3		 pathogenic
NM_005343.4(HRAS):c.445C>T (p.Arg149Trp) single nucleotide variant Costello syndrome [RCV000700035]|not provided [RCV000681102]|not specified [RCV000595459] Chr11:533458 [GRCh38]
Chr11:533458 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.411C>T (p.Tyr137=) single nucleotide variant Costello syndrome [RCV000637307] Chr11:533492 [GRCh38]
Chr11:533492 [GRCh37]
Chr11:11p15.5		 likely benign
NM_176795.5(HRAS):c.500dup (p.Pro169fs) duplication Congenital fibrosis of extraocular muscles [RCV003883157]|Costello syndrome [RCV000625815] Chr11:533308..533309 [GRCh38]
Chr11:533308..533309 [GRCh37]
Chr11:11p15.5		 pathogenic|uncertain significance
NM_005343.4(HRAS):c.435G>A (p.Ser145=) single nucleotide variant Cardiovascular phenotype [RCV004023889]|Costello syndrome [RCV000537215] Chr11:533468 [GRCh38]
Chr11:533468 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.156G>T (p.Leu52=) single nucleotide variant Cardiovascular phenotype [RCV003380607]|Costello syndrome [RCV001497959] Chr11:533900 [GRCh38]
Chr11:533900 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.482G>A (p.Arg161His) single nucleotide variant Costello syndrome [RCV001202259]|not specified [RCV000616994] Chr11:532724 [GRCh38]
Chr11:532724 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.-54+7G>A single nucleotide variant not specified [RCV000609219] Chr11:535409 [GRCh38]
Chr11:535409 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.291-17C>G single nucleotide variant Costello syndrome [RCV003767572]|not specified [RCV000611909] Chr11:533629 [GRCh38]
Chr11:533629 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.413G>A (p.Gly138Asp) single nucleotide variant Costello syndrome [RCV000558860] Chr11:533490 [GRCh38]
Chr11:533490 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.96C>T (p.Tyr32=) single nucleotide variant Cardiovascular phenotype [RCV002386025]|Costello syndrome [RCV000637312]|not provided [RCV001564192]|not specified [RCV000781470] Chr11:534227 [GRCh38]
Chr11:534227 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.451-5C>T single nucleotide variant Cardiovascular phenotype [RCV004024985]|Costello syndrome [RCV000637310]|not provided [RCV001698422] Chr11:532760 [GRCh38]
Chr11:532760 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
NM_005343.4(HRAS):c.84T>C (p.Phe28=) single nucleotide variant Costello syndrome [RCV001463449]|not specified [RCV000600165] Chr11:534239 [GRCh38]
Chr11:534239 [GRCh37]
Chr11:11p15.5		 likely benign
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_005343.4(HRAS):c.297G>T (p.Gln99His) single nucleotide variant Costello syndrome [RCV001231060] Chr11:533606 [GRCh38]
Chr11:533606 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.451-341G>A single nucleotide variant not provided [RCV000680741] Chr11:533096 [GRCh38]
Chr11:533096 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.-19C>T single nucleotide variant not provided [RCV000681168] Chr11:534341 [GRCh38]
Chr11:534341 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.137T>C (p.Ile46Thr) single nucleotide variant Costello syndrome [RCV001861890]|not provided [RCV000681108] Chr11:533919 [GRCh38]
Chr11:533919 [GRCh37]
Chr11:11p15.5		 likely pathogenic|uncertain significance
NM_005343.4(HRAS):c.451-282C>T single nucleotide variant not provided [RCV000681305] Chr11:533037 [GRCh38]
Chr11:533037 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.-53-40_-53-29del deletion not provided [RCV000680644] Chr11:534404..534415 [GRCh38]
Chr11:534404..534415 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
NM_005343.4(HRAS):c.451-168T>G single nucleotide variant not provided [RCV000680678] Chr11:532923 [GRCh38]
Chr11:532923 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.451-48C>T single nucleotide variant not provided [RCV000680739] Chr11:532803 [GRCh38]
Chr11:532803 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.-53-40_-53-35del deletion not provided [RCV000680646] Chr11:534410..534415 [GRCh38]
Chr11:534410..534415 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.461A>T (p.Asp154Val) single nucleotide variant Costello syndrome [RCV000701626]|HRAS-related disorder [RCV003892562] Chr11:532745 [GRCh38]
Chr11:532745 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.487A>T (p.Ile163Phe) single nucleotide variant Costello syndrome [RCV000704391] Chr11:532719 [GRCh38]
Chr11:532719 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.238T>A (p.Cys80Ser) single nucleotide variant Costello syndrome [RCV000704627] Chr11:533818 [GRCh38]
Chr11:533818 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.388G>C (p.Ala130Pro) single nucleotide variant Costello syndrome [RCV000707594] Chr11:533515 [GRCh38]
Chr11:533515 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_005343.4(HRAS):c.490C>T (p.Arg164Trp) single nucleotide variant Costello syndrome [RCV000703060]|Hereditary cancer-predisposing syndrome [RCV002259010]|not specified [RCV005240496] Chr11:532716 [GRCh38]
Chr11:532716 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.332T>C (p.Met111Thr) single nucleotide variant Costello syndrome [RCV000689351] Chr11:533571 [GRCh38]
Chr11:533571 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.394G>A (p.Asp132Asn) single nucleotide variant Costello syndrome [RCV000687312]|not provided [RCV000788501]|not specified [RCV004782512] Chr11:533509 [GRCh38]
Chr11:533509 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.424A>C (p.Ile142Leu) single nucleotide variant Costello syndrome [RCV000696822] Chr11:533479 [GRCh38]
Chr11:533479 [GRCh37]
Chr11:11p15.5		 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
GRCh37/hg19 11p15.5(chr11:285188-561859)x3 copy number gain not provided [RCV000737353] Chr11:285188..561859 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5(chr11:353757-561787)x3 copy number gain not provided [RCV000737356] Chr11:353757..561787 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5(chr11:381754-821676)x3 copy number gain not provided [RCV000749876] Chr11:381754..821676 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5(chr11:529101-577534)x1 copy number loss not provided [RCV000749883] Chr11:529101..577534 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) single nucleotide variant Large congenital melanocytic nevus [RCV004796045]|Linear nevus sebaceous syndrome [RCV000148033]|Noonan syndrome and Noonan-related syndrome [RCV001813393]|Salivary gland neoplasm [RCV001844808]|Vascular Tumors Including Pyogenic Granuloma [RCV000662268]|not provided [RCV000157918] Chr11:533874 [GRCh38]
Chr11:533874 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|uncertain significance|not provided
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
NM_005343.4(HRAS):c.418C>T (p.Pro140Ser) single nucleotide variant Costello syndrome [RCV000700279]|not specified [RCV000154499] Chr11:533485 [GRCh38]
Chr11:533485 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.24G>C (p.Val8=) single nucleotide variant Costello syndrome [RCV002072165]|not provided [RCV001565820] Chr11:534299 [GRCh38]
Chr11:534299 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.397C>T (p.Leu133Phe) single nucleotide variant Cardiovascular phenotype [RCV002358789]|Costello syndrome [RCV000637303] Chr11:533506 [GRCh38]
Chr11:533506 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.10T>C (p.Tyr4His) single nucleotide variant not provided [RCV000590817] Chr11:534313 [GRCh38]
Chr11:534313 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.460G>A (p.Asp154Asn) single nucleotide variant Costello syndrome [RCV000637302]|not provided [RCV000434487] Chr11:532746 [GRCh38]
Chr11:532746 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro) single nucleotide variant Acute myeloid leukemia [RCV000428741]|B-cell chronic lymphocytic leukemia [RCV000424105]|Gastric adenocarcinoma [RCV000435489]|Hepatocellular carcinoma [RCV000440764]|Lung adenocarcinoma [RCV000441832]|Malignant melanoma of skin [RCV000430658]|Malignant neoplasm of body of uterus [RCV000430030]|Multiple myeloma [RCV000420448]|Neoplasm [RCV000428681]|Neoplasm of the large intestine [RCV000425877]|Pancreatic adenocarcinoma [RCV000419094]|Squamous cell lung carcinoma [RCV000435915]|Thyroid tumor [RCV000435275]|Transitional cell carcinoma of the bladder [RCV000417619] Chr11:533874 [GRCh38]
Chr11:533874 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_005343.4(HRAS):c.37G>A (p.Gly13Ser) single nucleotide variant Costello syndrome [RCV002524694]|Vascular Tumors Including Pyogenic Granuloma [RCV000662270] Chr11:534286 [GRCh38]
Chr11:534286 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro) single nucleotide variant Acute myeloid leukemia [RCV000417704]|Gastric adenocarcinoma [RCV000439704]|Lung adenocarcinoma [RCV000439018]|Multiple myeloma [RCV000429488]|Neoplasm of the large intestine [RCV000427905]|Neoplasm of uterine cervix [RCV000418346] Chr11:533467 [GRCh38]
Chr11:533467 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_005343.4(HRAS):c.432C>T (p.Thr144=) single nucleotide variant Cardiovascular phenotype [RCV003301684] Chr11:533471 [GRCh38]
Chr11:533471 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.552dup (p.Lys185fs) duplication Costello syndrome [RCV000637304] Chr11:532653..532654 [GRCh38]
Chr11:532653..532654 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.141T>C (p.Asp47=) single nucleotide variant Cardiovascular phenotype [RCV002388047]|Costello syndrome [RCV000637306]|not specified [RCV001194129] Chr11:533915 [GRCh38]
Chr11:533915 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.102C>T (p.Pro34=) single nucleotide variant Cardiovascular phenotype [RCV002386026]|Costello syndrome [RCV000637314]|Noonan syndrome and Noonan-related syndrome [RCV001813533] Chr11:534221 [GRCh38]
Chr11:534221 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.*5+14C>G single nucleotide variant not provided [RCV000680622] Chr11:532617 [GRCh38]
Chr11:532617 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.90C>T (p.Asp30=) single nucleotide variant Costello syndrome [RCV000874791] Chr11:534233 [GRCh38]
Chr11:534233 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.291-30C>T single nucleotide variant not provided [RCV001535365] Chr11:533642 [GRCh38]
Chr11:533642 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.-53-5G>A single nucleotide variant not provided [RCV003315067] Chr11:534380 [GRCh38]
Chr11:534380 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.10:g.(?_532636)_(534322_?)del deletion Costello syndrome [RCV001032228] Chr11:532636..534322 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.*5+35C>T single nucleotide variant not provided [RCV001680781] Chr11:532596 [GRCh38]
Chr11:532596 [GRCh37]
Chr11:11p15.5		 benign
NC_000011.10:g.(?_532636)_(534322_?)dup duplication Costello syndrome [RCV004580177] Chr11:532636..534322 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.-54+3G>A single nucleotide variant Costello syndrome [RCV003448632] Chr11:535413 [GRCh38]
Chr11:535413 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.291-4_291-3del microsatellite Costello syndrome [RCV001401902] Chr11:533615..533616 [GRCh38]
Chr11:533615..533616 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.111+7C>T single nucleotide variant Costello syndrome [RCV001463156] Chr11:534205 [GRCh38]
Chr11:534205 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.451-8T>C single nucleotide variant Costello syndrome [RCV000877025] Chr11:532763 [GRCh38]
Chr11:532763 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser) single nucleotide variant Cardiovascular phenotype [RCV002320236]|Costello syndrome [RCV001036900]|Large congenital melanocytic nevus [RCV002505558] Chr11:533493 [GRCh38]
Chr11:533493 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.280C>T (p.His94Tyr) single nucleotide variant Costello syndrome [RCV001069666] Chr11:533776 [GRCh38]
Chr11:533776 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.282C>G (p.His94Gln) single nucleotide variant Cardiovascular phenotype [RCV004031788]|Costello syndrome [RCV001056731] Chr11:533774 [GRCh38]
Chr11:533774 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.491G>C (p.Arg164Pro) single nucleotide variant Costello syndrome [RCV001054590]|Large congenital melanocytic nevus [RCV002481991] Chr11:532715 [GRCh38]
Chr11:532715 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.451-4C>T single nucleotide variant Costello syndrome [RCV000874555]|Noonan syndrome [RCV000824933] Chr11:532759 [GRCh38]
Chr11:532759 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.382C>T (p.Arg128Trp) single nucleotide variant Costello syndrome [RCV000791901] Chr11:533521 [GRCh38]
Chr11:533521 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.291-9A>G single nucleotide variant Costello syndrome [RCV000864531]|not specified [RCV000781471] Chr11:533621 [GRCh38]
Chr11:533621 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.60C>T (p.Thr20=) single nucleotide variant Costello syndrome [RCV000873928] Chr11:534263 [GRCh38]
Chr11:534263 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.69G>A (p.Leu23=) single nucleotide variant Costello syndrome [RCV000871145]|not specified [RCV001420954] Chr11:534254 [GRCh38]
Chr11:534254 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.174C>T (p.Thr58=) single nucleotide variant Cardiovascular phenotype [RCV002409032]|Costello syndrome [RCV000864872] Chr11:533882 [GRCh38]
Chr11:533882 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.535C>G (p.Pro179Ala) single nucleotide variant Costello syndrome [RCV000898724] Chr11:532671 [GRCh38]
Chr11:532671 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.112-4G>A single nucleotide variant Costello syndrome [RCV001416693]|not specified [RCV001797803] Chr11:533948 [GRCh38]
Chr11:533948 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.451-10C>T single nucleotide variant Costello syndrome [RCV000895227] Chr11:532765 [GRCh38]
Chr11:532765 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.237G>A (p.Leu79=) single nucleotide variant Cardiovascular phenotype [RCV002454037]|Costello syndrome [RCV000875822] Chr11:533819 [GRCh38]
Chr11:533819 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal) indel Arteriovenous malformation [RCV000860022] Chr11:533879..533884 [GRCh38]
Chr11:533879..533884 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_005343.4(HRAS):c.41T>G (p.Val14Gly) single nucleotide variant Costello syndrome [RCV000810329] Chr11:534282 [GRCh38]
Chr11:534282 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.538G>A (p.Gly180Ser) single nucleotide variant Costello syndrome [RCV000810206]|not provided [RCV002269317] Chr11:532668 [GRCh38]
Chr11:532668 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.188_230dup (p.Phe78fs) duplication Costello syndrome [RCV000824932] Chr11:533825..533826 [GRCh38]
Chr11:533825..533826 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.54G>C (p.Ala18=) single nucleotide variant Costello syndrome [RCV001502715] Chr11:534269 [GRCh38]
Chr11:534269 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.451-3C>T single nucleotide variant Costello syndrome [RCV000803345] Chr11:532758 [GRCh38]
Chr11:532758 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532626)_(534332_?)dup duplication Costello syndrome [RCV000813327] Chr11:532626..534332 [GRCh38]
Chr11:532626..534332 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.112-7C>T single nucleotide variant Costello syndrome [RCV002066363] Chr11:533951 [GRCh38]
Chr11:533951 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.532G>C (p.Gly178Arg) single nucleotide variant Costello syndrome [RCV000817769] Chr11:532674 [GRCh38]
Chr11:532674 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.290+9C>G single nucleotide variant Costello syndrome [RCV000802561] Chr11:533757 [GRCh38]
Chr11:533757 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_176795.5(HRAS):c.488_507del (p.Leu163fs) deletion Costello syndrome [RCV003514457]|HRAS-related disorder [RCV003928669]|RASopathy [RCV001030086]|not provided [RCV001619882] Chr11:533302..533321 [GRCh38]
Chr11:533302..533321 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_005343.4(HRAS):c.178G>A (p.Gly60Ser) single nucleotide variant Costello syndrome [RCV000818197] Chr11:533878 [GRCh38]
Chr11:533878 [GRCh37]
Chr11:11p15.5		 likely pathogenic|uncertain significance
NM_005343.4(HRAS):c.5C>T (p.Thr2Met) single nucleotide variant Costello syndrome [RCV000816525] Chr11:534318 [GRCh38]
Chr11:534318 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala) single nucleotide variant Costello syndrome [RCV000797018]|Noonan syndrome [RCV001261054] Chr11:532686 [GRCh38]
Chr11:532686 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.144G>A (p.Gly48=) single nucleotide variant Costello syndrome [RCV001483338] Chr11:533912 [GRCh38]
Chr11:533912 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys) single nucleotide variant Costello syndrome [RCV000797879]|Large congenital melanocytic nevus [RCV002501060]|not provided [RCV001592979] Chr11:532725 [GRCh38]
Chr11:532725 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.275A>C (p.Asp92Ala) single nucleotide variant Costello syndrome [RCV000823640] Chr11:533781 [GRCh38]
Chr11:533781 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532616)_(2906985_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032557] Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NM_005343.4(HRAS):c.133G>A (p.Val45Ile) single nucleotide variant Costello syndrome [RCV001044559] Chr11:533923 [GRCh38]
Chr11:533923 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.290+1G>C single nucleotide variant not specified [RCV001194130] Chr11:533765 [GRCh38]
Chr11:533765 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.165_166insTCCGGAAGCAGGTGGTCATTGATGGGGAGACGTGCCTGTTGGACATC (p.Leu56fs) insertion not specified [RCV001194132] Chr11:533890..533891 [GRCh38]
Chr11:533890..533891 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.450+17C>T single nucleotide variant Costello syndrome [RCV002559679]|not specified [RCV001174936] Chr11:533436 [GRCh38]
Chr11:533436 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.426C>G (p.Ile142Met) single nucleotide variant Cardiovascular phenotype [RCV002327468]|Costello syndrome [RCV001204909] Chr11:533477 [GRCh38]
Chr11:533477 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.97G>A (p.Asp33Asn) single nucleotide variant Costello syndrome [RCV001219408] Chr11:534226 [GRCh38]
Chr11:534226 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.407G>A (p.Ser136Asn) single nucleotide variant Costello syndrome [RCV001208775] Chr11:533496 [GRCh38]
Chr11:533496 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.464C>T (p.Ala155Val) single nucleotide variant Costello syndrome [RCV001238905] Chr11:532742 [GRCh38]
Chr11:532742 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.412_431del (p.Gly138fs) deletion Costello syndrome [RCV001223776] Chr11:533472..533491 [GRCh38]
Chr11:533472..533491 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.295C>G (p.Gln99Glu) single nucleotide variant Costello syndrome [RCV001240627] Chr11:533608 [GRCh38]
Chr11:533608 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.427G>C (p.Glu143Gln) single nucleotide variant Costello syndrome [RCV001226647]|not provided [RCV004768941] Chr11:533476 [GRCh38]
Chr11:533476 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.383G>A (p.Arg128Gln) single nucleotide variant Costello syndrome [RCV001234711] Chr11:533520 [GRCh38]
Chr11:533520 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.274G>A (p.Asp92Asn) single nucleotide variant Costello syndrome [RCV001209828] Chr11:533782 [GRCh38]
Chr11:533782 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.566C>T (p.Ser189Phe) single nucleotide variant Costello syndrome [RCV001210405] Chr11:532640 [GRCh38]
Chr11:532640 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.263A>G (p.Lys88Arg) single nucleotide variant Costello syndrome [RCV001204299] Chr11:533793 [GRCh38]
Chr11:533793 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_005343.4(HRAS):c.111+50C>G single nucleotide variant not provided [RCV001715656] Chr11:534162 [GRCh38]
Chr11:534162 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.451-224G>A single nucleotide variant not provided [RCV001638374] Chr11:532979 [GRCh38]
Chr11:532979 [GRCh37]
Chr11:11p15.5		 benign
NM_176795.5(HRAS):c.498C>G (p.Pro166=) single nucleotide variant not provided [RCV001677220] Chr11:533311 [GRCh38]
Chr11:533311 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.111+75C>G single nucleotide variant not provided [RCV001650464] Chr11:534137 [GRCh38]
Chr11:534137 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.102C>G (p.Pro34=) single nucleotide variant Costello syndrome [RCV001493838]|not provided [RCV000868366] Chr11:534221 [GRCh38]
Chr11:534221 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005343.4(HRAS):c.270dup (p.Glu91Ter) duplication Costello syndrome [RCV001231755] Chr11:533785..533786 [GRCh38]
Chr11:533785..533786 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.539G>A (p.Gly180Asp) single nucleotide variant Costello syndrome [RCV001219695] Chr11:532667 [GRCh38]
Chr11:532667 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.463G>T (p.Ala155Ser) single nucleotide variant Costello syndrome [RCV001205671] Chr11:532743 [GRCh38]
Chr11:532743 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.260C>A (p.Thr87Asn) single nucleotide variant Costello syndrome [RCV001224158] Chr11:533796 [GRCh38]
Chr11:533796 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.450+20C>A single nucleotide variant Costello syndrome [RCV002069249]|not specified [RCV001194133] Chr11:533433 [GRCh38]
Chr11:533433 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.492G>A (p.Arg164=) single nucleotide variant Costello syndrome [RCV000955635]|not specified [RCV005236479] Chr11:532714 [GRCh38]
Chr11:532714 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.423C>T (p.Tyr141=) single nucleotide variant Cardiovascular phenotype [RCV004629387]|Costello syndrome [RCV001400667] Chr11:533480 [GRCh38]
Chr11:533480 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.231C>T (p.Gly77=) single nucleotide variant Costello syndrome [RCV000911535] Chr11:533825 [GRCh38]
Chr11:533825 [GRCh37]
Chr11:11p15.5		 likely benign
NM_176795.5(HRAS):c.501G>A (p.Pro167=) single nucleotide variant not provided [RCV001562363] Chr11:533308 [GRCh38]
Chr11:533308 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.35_36delinsTT (p.Gly12Val) indel Costello syndrome [RCV001732216]|not provided [RCV001577794] Chr11:534287..534288 [GRCh38]
Chr11:534287..534288 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_005343.4(HRAS):c.*76G>C single nucleotide variant not provided [RCV001540698] Chr11:532452 [GRCh38]
Chr11:532452 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.450+38C>T single nucleotide variant not provided [RCV001596788] Chr11:533415 [GRCh38]
Chr11:533415 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.450+49G>A single nucleotide variant not provided [RCV001676730] Chr11:533404 [GRCh38]
Chr11:533404 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.290+10G>A single nucleotide variant Costello syndrome [RCV002559226]|not specified [RCV001194131] Chr11:533756 [GRCh38]
Chr11:533756 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NC_000011.10:g.535603G>A single nucleotide variant not provided [RCV001695147] Chr11:535603 [GRCh38]
Chr11:535603 [GRCh37]
Chr11:11p15.5		 benign
NC_000011.10:g.(?_534206)_(534328_?)dup duplication Costello syndrome [RCV001033925] Chr11:534206..534328 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.10:g.(?_532616)_(795026_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001031133] Chr11:532616..795026 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.17TGG[3] (p.Val9del) microsatellite Costello syndrome [RCV001067470] Chr11:534295..534297 [GRCh38]
Chr11:534295..534297 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.10:g.(?_532616)_(534342_?)dup duplication Costello syndrome [RCV001032510] Chr11:532616..534342 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.245T>G (p.Phe82Cys) single nucleotide variant Costello syndrome [RCV001206337] Chr11:533811 [GRCh38]
Chr11:533811 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.544A>C (p.Met182Leu) single nucleotide variant Costello syndrome [RCV001217922] Chr11:532662 [GRCh38]
Chr11:532662 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.565T>G (p.Ser189Ala) single nucleotide variant Costello syndrome [RCV001061654] Chr11:532641 [GRCh38]
Chr11:532641 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.491G>A (p.Arg164Gln) single nucleotide variant Costello syndrome [RCV001219438]|HRAS-related disorder [RCV003398958]|not provided [RCV001776147] Chr11:532715 [GRCh38]
Chr11:532715 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.503T>C (p.Leu168Pro) single nucleotide variant Costello syndrome [RCV001203653]|Noonan syndrome and Noonan-related syndrome [RCV001813581]|not provided [RCV004697069] Chr11:532703 [GRCh38]
Chr11:532703 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.112-7_112-5del microsatellite Costello syndrome [RCV001037002] Chr11:533949..533951 [GRCh38]
Chr11:533949..533951 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.548G>A (p.Ser183Asn) single nucleotide variant Costello syndrome [RCV001037216]|Noonan syndrome [RCV001261055] Chr11:532658 [GRCh38]
Chr11:532658 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.419C>T (p.Pro140Leu) single nucleotide variant Cardiovascular phenotype [RCV004033178]|Costello syndrome [RCV001232757] Chr11:533484 [GRCh38]
Chr11:533484 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.451-6T>G single nucleotide variant Costello syndrome [RCV001228584] Chr11:532761 [GRCh38]
Chr11:532761 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.112-59_*6-51del deletion Costello syndrome [RCV001253224] Chr11:532573..534003 [GRCh38]
Chr11:532573..534003 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.450+31A>G single nucleotide variant Squamous cell lung carcinoma [RCV001250980] Chr11:533422 [GRCh38]
Chr11:533422 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.450+38dup duplication Squamous cell lung carcinoma [RCV001250978] Chr11:533414..533415 [GRCh38]
Chr11:533414..533415 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.111+18G>C single nucleotide variant Squamous cell lung carcinoma [RCV001250981] Chr11:534194 [GRCh38]
Chr11:534194 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.450+35A>C single nucleotide variant Squamous cell lung carcinoma [RCV001250979] Chr11:533418 [GRCh38]
Chr11:533418 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_176795.5(HRAS):c.463_468dup (p.Gly155_Ser156dup) duplication Noonan syndrome [RCV001261053] Chr11:533340..533341 [GRCh38]
Chr11:533340..533341 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:230615-1150353)x3 copy number gain not provided [RCV001259592] Chr11:230615..1150353 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_005343.4(HRAS):c.374T>C (p.Val125Ala) single nucleotide variant Costello syndrome [RCV001880001]|Noonan syndrome [RCV001261052] Chr11:533529 [GRCh38]
Chr11:533529 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532631)_(534375_?)dup duplication Costello syndrome [RCV000461310] Chr11:532631..534375 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_298501)_(4113028_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001316682] Chr11:298501..4113028 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NM_005343.4(HRAS):c.506G>T (p.Arg169Leu) single nucleotide variant Costello syndrome [RCV001338600] Chr11:532700 [GRCh38]
Chr11:532700 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.427G>A (p.Glu143Lys) single nucleotide variant Costello syndrome [RCV001320813] Chr11:533476 [GRCh38]
Chr11:533476 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.203G>T (p.Arg68Leu) single nucleotide variant Costello syndrome [RCV001321198] Chr11:533853 [GRCh38]
Chr11:533853 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.560T>C (p.Val187Ala) single nucleotide variant Costello syndrome [RCV001309436] Chr11:532646 [GRCh38]
Chr11:532646 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532630)_(532761_?)dup duplication Costello syndrome [RCV001351804] Chr11:532630..532761 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.426C>A (p.Ile142=) single nucleotide variant Costello syndrome [RCV001324473] Chr11:533477 [GRCh38]
Chr11:533477 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.484G>A (p.Glu162Lys) single nucleotide variant Costello syndrome [RCV001337613]|not provided [RCV001550317] Chr11:532722 [GRCh38]
Chr11:532722 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.202C>G (p.Arg68Gly) single nucleotide variant Cardiovascular phenotype [RCV002420839]|Costello syndrome [RCV001372298] Chr11:533854 [GRCh38]
Chr11:533854 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.386A>G (p.Gln129Arg) single nucleotide variant Costello syndrome [RCV001329395]|HRAS-related disorder [RCV005225372] Chr11:533517 [GRCh38]
Chr11:533517 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_005343.4(HRAS):c.291-3C>T single nucleotide variant Costello syndrome [RCV001305262]|Hereditary cancer-predisposing syndrome [RCV002258190] Chr11:533615 [GRCh38]
Chr11:533615 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.329C>T (p.Pro110Leu) single nucleotide variant Costello syndrome [RCV001372946] Chr11:533574 [GRCh38]
Chr11:533574 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.261C>T (p.Thr87=) single nucleotide variant Cardiovascular phenotype [RCV002456666]|Costello syndrome [RCV001415096]|not provided [RCV004801008] Chr11:533795 [GRCh38]
Chr11:533795 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.101C>T (p.Pro34Leu) single nucleotide variant Costello syndrome [RCV001360851] Chr11:534222 [GRCh38]
Chr11:534222 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.108dup (p.Glu37fs) duplication Costello syndrome [RCV001371797] Chr11:534214..534215 [GRCh38]
Chr11:534214..534215 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.463G>A (p.Ala155Thr) single nucleotide variant Costello syndrome [RCV001373169] Chr11:532743 [GRCh38]
Chr11:532743 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_534206)_(534328_?)dup duplication Costello syndrome [RCV001319822] Chr11:534206..534328 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.545T>C (p.Met182Thr) single nucleotide variant Costello syndrome [RCV001341872] Chr11:532661 [GRCh38]
Chr11:532661 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.515A>G (p.Asn172Ser) single nucleotide variant Costello syndrome [RCV001364047] Chr11:532691 [GRCh38]
Chr11:532691 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.424A>G (p.Ile142Val) single nucleotide variant Costello syndrome [RCV001351824] Chr11:533479 [GRCh38]
Chr11:533479 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.497A>G (p.His166Arg) single nucleotide variant Costello syndrome [RCV001318591]|HRAS-related disorder [RCV003399099] Chr11:532709 [GRCh38]
Chr11:532709 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.307G>A (p.Val103Met) single nucleotide variant Costello syndrome [RCV001321698] Chr11:533596 [GRCh38]
Chr11:533596 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.536C>T (p.Pro179Leu) single nucleotide variant Costello syndrome [RCV001360423]|not provided [RCV002269365] Chr11:532670 [GRCh38]
Chr11:532670 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532636)_(533622_?)dup duplication Costello syndrome [RCV001364984] Chr11:532636..533622 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.361G>A (p.Ala121Thr) single nucleotide variant Costello syndrome [RCV001338691]|Ovarian cancer [RCV003153999] Chr11:533542 [GRCh38]
Chr11:533542 [GRCh37]
Chr11:11p15.5		 benign|uncertain significance
NM_005343.4(HRAS):c.391C>G (p.Gln131Glu) single nucleotide variant Costello syndrome [RCV001321875] Chr11:533512 [GRCh38]
Chr11:533512 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.211T>C (p.Tyr71His) single nucleotide variant Costello syndrome [RCV001370190] Chr11:533845 [GRCh38]
Chr11:533845 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.269T>C (p.Phe90Ser) single nucleotide variant Costello syndrome [RCV001307584]|not provided [RCV004779049] Chr11:533787 [GRCh38]
Chr11:533787 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.542G>A (p.Cys181Tyr) single nucleotide variant Costello syndrome [RCV001346242] Chr11:532664 [GRCh38]
Chr11:532664 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.138T>G (p.Ile46Met) single nucleotide variant Costello syndrome [RCV001297540] Chr11:533918 [GRCh38]
Chr11:533918 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.260C>T (p.Thr87Ile) single nucleotide variant Costello syndrome [RCV001347584] Chr11:533796 [GRCh38]
Chr11:533796 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532636)_(534322_?)dup duplication Costello syndrome [RCV001308943] Chr11:532636..534322 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.479T>C (p.Val160Ala) single nucleotide variant Costello syndrome [RCV001319495] Chr11:532727 [GRCh38]
Chr11:532727 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.469T>C (p.Tyr157His) single nucleotide variant Costello syndrome [RCV001305343] Chr11:532737 [GRCh38]
Chr11:532737 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.517C>T (p.Pro173Ser) single nucleotide variant Costello syndrome [RCV001325045]|not provided [RCV002466661] Chr11:532689 [GRCh38]
Chr11:532689 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 copy number gain See cases [RCV001310286] Chr11:10701..5080415 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_005343.4(HRAS):c.370A>G (p.Thr124Ala) single nucleotide variant Costello syndrome [RCV001351593]|not provided [RCV002224077] Chr11:533533 [GRCh38]
Chr11:533533 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.245T>C (p.Phe82Ser) single nucleotide variant Costello syndrome [RCV001306208] Chr11:533811 [GRCh38]
Chr11:533811 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.99C>T (p.Asp33=) single nucleotide variant Costello syndrome [RCV001413845] Chr11:534224 [GRCh38]
Chr11:534224 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.273G>A (p.Glu91=) single nucleotide variant Costello syndrome [RCV001492334] Chr11:533783 [GRCh38]
Chr11:533783 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.402C>G (p.Ala134=) single nucleotide variant Costello syndrome [RCV001499031] Chr11:533501 [GRCh38]
Chr11:533501 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.366A>G (p.Ala122=) single nucleotide variant Costello syndrome [RCV001459233] Chr11:533537 [GRCh38]
Chr11:533537 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.390T>G (p.Ala130=) single nucleotide variant Costello syndrome [RCV001402800] Chr11:533513 [GRCh38]
Chr11:533513 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.255C>T (p.Asn85=) single nucleotide variant Cardiovascular phenotype [RCV002432305]|Costello syndrome [RCV001466181] Chr11:533801 [GRCh38]
Chr11:533801 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.33C>T (p.Ala11=) single nucleotide variant Costello syndrome [RCV001467991] Chr11:534290 [GRCh38]
Chr11:534290 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.297G>A (p.Gln99=) single nucleotide variant Cardiovascular phenotype [RCV002439133]|Costello syndrome [RCV001474289] Chr11:533606 [GRCh38]
Chr11:533606 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.399C>T (p.Leu133=) single nucleotide variant Costello syndrome [RCV001400583] Chr11:533504 [GRCh38]
Chr11:533504 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.393G>A (p.Gln131=) single nucleotide variant Costello syndrome [RCV001468249] Chr11:533510 [GRCh38]
Chr11:533510 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.222C>G (p.Thr74=) single nucleotide variant Costello syndrome [RCV001429768] Chr11:533834 [GRCh38]
Chr11:533834 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.159G>A (p.Leu53=) single nucleotide variant Costello syndrome [RCV001404417] Chr11:533897 [GRCh38]
Chr11:533897 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.375G>C (p.Val125=) single nucleotide variant Costello syndrome [RCV001407667] Chr11:533528 [GRCh38]
Chr11:533528 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.414C>A (p.Gly138=) single nucleotide variant Costello syndrome [RCV001444684] Chr11:533489 [GRCh38]
Chr11:533489 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.318G>A (p.Ser106=) single nucleotide variant Cardiovascular phenotype [RCV004995815]|Costello syndrome [RCV001442126] Chr11:533585 [GRCh38]
Chr11:533585 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.123G>C (p.Arg41=) single nucleotide variant Cardiovascular phenotype [RCV002384695]|Costello syndrome [RCV001447692] Chr11:533933 [GRCh38]
Chr11:533933 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.291-10C>T single nucleotide variant Costello syndrome [RCV001440352] Chr11:533622 [GRCh38]
Chr11:533622 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.483T>C (p.Arg161=) single nucleotide variant Costello syndrome [RCV001411333] Chr11:532723 [GRCh38]
Chr11:532723 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.198C>T (p.Ala66=) single nucleotide variant Costello syndrome [RCV001438160] Chr11:533858 [GRCh38]
Chr11:533858 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.147G>A (p.Glu49=) single nucleotide variant Cardiovascular phenotype [RCV002396039]|Costello syndrome [RCV001448313]|not specified [RCV005237822] Chr11:533909 [GRCh38]
Chr11:533909 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.288C>T (p.Tyr96=) single nucleotide variant Costello syndrome [RCV001445773] Chr11:533768 [GRCh38]
Chr11:533768 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.420C>T (p.Pro140=) single nucleotide variant Costello syndrome [RCV001411688] Chr11:533483 [GRCh38]
Chr11:533483 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.10:g.535649C>T single nucleotide variant not provided [RCV001673907] Chr11:535649 [GRCh38]
Chr11:535649 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.165C>T (p.Ile55=) single nucleotide variant Costello syndrome [RCV001473943] Chr11:533891 [GRCh38]
Chr11:533891 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.*5+29C>T single nucleotide variant not provided [RCV001649520] Chr11:532602 [GRCh38]
Chr11:532602 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.396C>T (p.Asp132=) single nucleotide variant Costello syndrome [RCV001455181] Chr11:533507 [GRCh38]
Chr11:533507 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.10:g.535596C>T single nucleotide variant not provided [RCV001713285] Chr11:535596 [GRCh38]
Chr11:535596 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.-101C>T single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813603]|not provided [RCV001615855] Chr11:535463 [GRCh38]
Chr11:535463 [GRCh37]
Chr11:11p15.5		 benign|uncertain significance
NM_005343.4(HRAS):c.192C>T (p.Tyr64=) single nucleotide variant Cardiovascular phenotype [RCV004995846]|Costello syndrome [RCV001459048]|HRAS-related disorder [RCV003965911]|not specified [RCV002282553] Chr11:533864 [GRCh38]
Chr11:533864 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.-53-10T>C single nucleotide variant not provided [RCV001715651] Chr11:534385 [GRCh38]
Chr11:534385 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.-54+47C>T single nucleotide variant not provided [RCV001649465] Chr11:535369 [GRCh38]
Chr11:535369 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.202C>A (p.Arg68=) single nucleotide variant Costello syndrome [RCV001498417] Chr11:533854 [GRCh38]
Chr11:533854 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.435G>C (p.Ser145=) single nucleotide variant Costello syndrome [RCV001503034] Chr11:533468 [GRCh38]
Chr11:533468 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.345G>A (p.Gly115=) single nucleotide variant Costello syndrome [RCV001506532] Chr11:533558 [GRCh38]
Chr11:533558 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.489C>A (p.Ile163=) single nucleotide variant Costello syndrome [RCV001453562] Chr11:532717 [GRCh38]
Chr11:532717 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.177C>G (p.Ala59=) single nucleotide variant Costello syndrome [RCV001457720] Chr11:533879 [GRCh38]
Chr11:533879 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.465C>T (p.Ala155=) single nucleotide variant Costello syndrome [RCV001486095] Chr11:532741 [GRCh38]
Chr11:532741 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.30C>T (p.Gly10=) single nucleotide variant Costello syndrome [RCV001453365] Chr11:534293 [GRCh38]
Chr11:534293 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.438C>A (p.Ala146=) single nucleotide variant Costello syndrome [RCV001432469] Chr11:533465 [GRCh38]
Chr11:533465 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.235C>T (p.Leu79=) single nucleotide variant Costello syndrome [RCV001459074] Chr11:533821 [GRCh38]
Chr11:533821 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.112-6C>T single nucleotide variant Costello syndrome [RCV001400227] Chr11:533950 [GRCh38]
Chr11:533950 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.55C>T (p.Leu19=) single nucleotide variant Costello syndrome [RCV001443802] Chr11:534268 [GRCh38]
Chr11:534268 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.258C>T (p.Asn86=) single nucleotide variant Costello syndrome [RCV001452227] Chr11:533798 [GRCh38]
Chr11:533798 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.15G>A (p.Lys5=) single nucleotide variant Cardiovascular phenotype [RCV002404980]|Costello syndrome [RCV001416541] Chr11:534308 [GRCh38]
Chr11:534308 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.279C>T (p.Ile93=) single nucleotide variant Costello syndrome [RCV001435343] Chr11:533777 [GRCh38]
Chr11:533777 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.360G>C (p.Leu120=) single nucleotide variant Cardiovascular phenotype [RCV002456867]|Costello syndrome [RCV001489223] Chr11:533543 [GRCh38]
Chr11:533543 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.567C>G (p.Ser189=) single nucleotide variant Costello syndrome [RCV001465161] Chr11:532639 [GRCh38]
Chr11:532639 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.417C>T (p.Ile139=) single nucleotide variant Costello syndrome [RCV001430947] Chr11:533486 [GRCh38]
Chr11:533486 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.291-9del deletion Costello syndrome [RCV001505890]|HRAS-related disorder [RCV003948481] Chr11:533621 [GRCh38]
Chr11:533621 [GRCh37]
Chr11:11p15.5		 likely benign
GRCh37/hg19 11p15.5(chr11:528484-534377)x1 copy number loss not provided [RCV001726859] Chr11:528484..534377 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.220A>G (p.Thr74Ala) single nucleotide variant Costello syndrome [RCV003109166] Chr11:533836 [GRCh38]
Chr11:533836 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.424A>T (p.Ile142Phe) single nucleotide variant Costello syndrome [RCV003105215] Chr11:533479 [GRCh38]
Chr11:533479 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.*5+4A>T single nucleotide variant not specified [RCV005237319] Chr11:532627 [GRCh38]
Chr11:532627 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.481C>G (p.Arg161Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258705] Chr11:532725 [GRCh38]
Chr11:532725 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.454G>A (p.Val152Met) single nucleotide variant Costello syndrome [RCV002541093]|not provided [RCV001777111] Chr11:532752 [GRCh38]
Chr11:532752 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_176795.5(HRAS):c.488_497del (p.Leu163fs) deletion Costello syndrome [RCV001775533]|not provided [RCV005057609] Chr11:533312..533321 [GRCh38]
Chr11:533312..533321 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_005343.4(HRAS):c.466T>C (p.Phe156Leu) single nucleotide variant Costello syndrome [RCV001789705] Chr11:532740 [GRCh38]
Chr11:532740 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_176795.5(HRAS):c.481G>A (p.Gly161Arg) single nucleotide variant Costello syndrome [RCV005095098]|not provided [RCV003238053] Chr11:533328 [GRCh38]
Chr11:533328 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.521C>A (p.Pro174His) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813656] Chr11:532685 [GRCh38]
Chr11:532685 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.175G>T (p.Ala59Ser) single nucleotide variant Costello syndrome [RCV002541490]|Noonan syndrome and Noonan-related syndrome [RCV001813657] Chr11:533881 [GRCh38]
Chr11:533881 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.543C>T (p.Cys181=) single nucleotide variant Costello syndrome [RCV001988101] Chr11:532663 [GRCh38]
Chr11:532663 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 copy number gain not provided [RCV001825269] Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4		 not provided
NM_005343.4(HRAS):c.551G>A (p.Cys184Tyr) single nucleotide variant Costello syndrome [RCV001874567] Chr11:532655 [GRCh38]
Chr11:532655 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.400G>A (p.Ala134Thr) single nucleotide variant Costello syndrome [RCV001915290] Chr11:533503 [GRCh38]
Chr11:533503 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.11A>C (p.Tyr4Ser) single nucleotide variant Costello syndrome [RCV001912723] Chr11:534312 [GRCh38]
Chr11:534312 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.425T>C (p.Ile142Thr) single nucleotide variant Costello syndrome [RCV001871491] Chr11:533478 [GRCh38]
Chr11:533478 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.474_475del (p.Leu159fs) deletion Costello syndrome [RCV001926608] Chr11:532731..532732 [GRCh38]
Chr11:532731..532732 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.413G>T (p.Gly138Val) single nucleotide variant Costello syndrome [RCV002021551] Chr11:533490 [GRCh38]
Chr11:533490 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.115T>A (p.Ser39Thr) single nucleotide variant Costello syndrome [RCV001948765] Chr11:533941 [GRCh38]
Chr11:533941 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.313G>A (p.Asp105Asn) single nucleotide variant Costello syndrome [RCV001948371] Chr11:533590 [GRCh38]
Chr11:533590 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.376G>C (p.Glu126Gln) single nucleotide variant Costello syndrome [RCV001948892] Chr11:533527 [GRCh38]
Chr11:533527 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.482_511del (p.Arg161_Lys170del) deletion Costello syndrome [RCV001872917] Chr11:532695..532724 [GRCh38]
Chr11:532695..532724 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.307G>C (p.Val103Leu) single nucleotide variant Costello syndrome [RCV002040529] Chr11:533596 [GRCh38]
Chr11:533596 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.99C>A (p.Asp33Glu) single nucleotide variant Costello syndrome [RCV001908473] Chr11:534224 [GRCh38]
Chr11:534224 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.331A>G (p.Met111Val) single nucleotide variant Costello syndrome [RCV001986343] Chr11:533572 [GRCh38]
Chr11:533572 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.278T>C (p.Ile93Thr) single nucleotide variant Parathyroid gland adenoma [RCV001843332] Chr11:533778 [GRCh38]
Chr11:533778 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.107T>C (p.Ile36Thr) single nucleotide variant Costello syndrome [RCV001888117] Chr11:534216 [GRCh38]
Chr11:534216 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.145G>C (p.Glu49Gln) single nucleotide variant Costello syndrome [RCV002038934] Chr11:533911 [GRCh38]
Chr11:533911 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.112-10C>A single nucleotide variant Costello syndrome [RCV002014909] Chr11:533954 [GRCh38]
Chr11:533954 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.530G>A (p.Ser177Asn) single nucleotide variant Costello syndrome [RCV001888222] Chr11:532676 [GRCh38]
Chr11:532676 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.88G>A (p.Asp30Asn) single nucleotide variant Costello syndrome [RCV001996287] Chr11:534235 [GRCh38]
Chr11:534235 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532636)_(695047_?)dup duplication not provided [RCV001955722] Chr11:532636..695047 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.110_111+5del deletion Costello syndrome [RCV001918065] Chr11:534207..534213 [GRCh38]
Chr11:534207..534213 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.551G>C (p.Cys184Ser) single nucleotide variant Costello syndrome [RCV001918427] Chr11:532655 [GRCh38]
Chr11:532655 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.292G>A (p.Glu98Lys) single nucleotide variant Costello syndrome [RCV001931785] Chr11:533611 [GRCh38]
Chr11:533611 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.368G>A (p.Arg123His) single nucleotide variant Costello syndrome [RCV002027674] Chr11:533535 [GRCh38]
Chr11:533535 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.415A>T (p.Ile139Phe) single nucleotide variant Costello syndrome [RCV001952572] Chr11:533488 [GRCh38]
Chr11:533488 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.223G>A (p.Gly75Arg) single nucleotide variant Costello syndrome [RCV001900092] Chr11:533833 [GRCh38]
Chr11:533833 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.362C>A (p.Ala121Asp) single nucleotide variant Costello syndrome [RCV002048924] Chr11:533541 [GRCh38]
Chr11:533541 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.365C>T (p.Ala122Val) single nucleotide variant Costello syndrome [RCV001921064] Chr11:533538 [GRCh38]
Chr11:533538 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532636)_(533328_?)del deletion Costello syndrome [RCV001938968] Chr11:532636..533328 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.202C>T (p.Arg68Trp) single nucleotide variant Costello syndrome [RCV001906898]|not provided [RCV003235615] Chr11:533854 [GRCh38]
Chr11:533854 [GRCh37]
Chr11:11p15.5		 likely pathogenic|uncertain significance
NM_005343.4(HRAS):c.112-13T>C single nucleotide variant Costello syndrome [RCV001919222] Chr11:533957 [GRCh38]
Chr11:533957 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.103A>G (p.Thr35Ala) single nucleotide variant Costello syndrome [RCV001997641] Chr11:534220 [GRCh38]
Chr11:534220 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_533443)_(534322_?)dup duplication Costello syndrome [RCV001952155] Chr11:533443..534322 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.111+11C>T single nucleotide variant Costello syndrome [RCV002017298] Chr11:534201 [GRCh38]
Chr11:534201 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.325G>A (p.Val109Met) single nucleotide variant Costello syndrome [RCV001925424] Chr11:533578 [GRCh38]
Chr11:533578 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.364G>A (p.Ala122Thr) single nucleotide variant Costello syndrome [RCV001972181] Chr11:533539 [GRCh38]
Chr11:533539 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.445del (p.Arg149fs) deletion Costello syndrome [RCV001917597] Chr11:533458 [GRCh38]
Chr11:533458 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.414C>T (p.Gly138=) single nucleotide variant Costello syndrome [RCV001952892] Chr11:533489 [GRCh38]
Chr11:533489 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.44G>C (p.Gly15Ala) single nucleotide variant Costello syndrome [RCV001922109] Chr11:534279 [GRCh38]
Chr11:534279 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.496C>T (p.His166Tyr) single nucleotide variant Costello syndrome [RCV001938019] Chr11:532710 [GRCh38]
Chr11:532710 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_216698)_(720766_?)dup duplication Immunodeficiency 39 [RCV001923869] Chr11:216698..720766 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.127C>T (p.Gln43Ter) single nucleotide variant Costello syndrome [RCV001959252] Chr11:533929 [GRCh38]
Chr11:533929 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.136A>G (p.Ile46Val) single nucleotide variant Costello syndrome [RCV002017989]|not provided [RCV003332372] Chr11:533920 [GRCh38]
Chr11:533920 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.476T>C (p.Leu159Ser) single nucleotide variant Costello syndrome [RCV002050671] Chr11:532730 [GRCh38]
Chr11:532730 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.535C>T (p.Pro179Ser) single nucleotide variant Cardiovascular phenotype [RCV002344051]|Costello syndrome [RCV001919589]|not provided [RCV003159220] Chr11:532671 [GRCh38]
Chr11:532671 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.5C>G (p.Thr2Arg) single nucleotide variant Costello syndrome [RCV001917995] Chr11:534318 [GRCh38]
Chr11:534318 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.383G>T (p.Arg128Leu) single nucleotide variant Costello syndrome [RCV002033573] Chr11:533520 [GRCh38]
Chr11:533520 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.375G>A (p.Val125=) single nucleotide variant Costello syndrome [RCV001975953] Chr11:533528 [GRCh38]
Chr11:533528 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.367C>G (p.Arg123Gly) single nucleotide variant Costello syndrome [RCV001953316] Chr11:533536 [GRCh38]
Chr11:533536 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.171_185dup (p.Asp57_Gln61dup) duplication Costello syndrome [RCV001974222] Chr11:533870..533871 [GRCh38]
Chr11:533870..533871 [GRCh37]
Chr11:11p15.5		 likely pathogenic|uncertain significance
NM_005343.4(HRAS):c.285G>C (p.Gln95His) single nucleotide variant Costello syndrome [RCV001935564] Chr11:533771 [GRCh38]
Chr11:533771 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.150G>T (p.Thr50=) single nucleotide variant Cardiovascular phenotype [RCV002391278]|Costello syndrome [RCV002145600] Chr11:533906 [GRCh38]
Chr11:533906 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.166C>T (p.Leu56=) single nucleotide variant Costello syndrome [RCV002089090] Chr11:533890 [GRCh38]
Chr11:533890 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.290+14G>A single nucleotide variant Costello syndrome [RCV002187185] Chr11:533752 [GRCh38]
Chr11:533752 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.12T>C (p.Tyr4=) single nucleotide variant Costello syndrome [RCV002205476] Chr11:534311 [GRCh38]
Chr11:534311 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.459G>A (p.Glu153=) single nucleotide variant Costello syndrome [RCV002188265] Chr11:532747 [GRCh38]
Chr11:532747 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.111+18G>A single nucleotide variant Costello syndrome [RCV002109318] Chr11:534194 [GRCh38]
Chr11:534194 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.210G>A (p.Gln70=) single nucleotide variant Costello syndrome [RCV002106859] Chr11:533846 [GRCh38]
Chr11:533846 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.112-14C>T single nucleotide variant Costello syndrome [RCV002192380] Chr11:533958 [GRCh38]
Chr11:533958 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.126G>A (p.Lys42=) single nucleotide variant Costello syndrome [RCV002207120] Chr11:533930 [GRCh38]
Chr11:533930 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.291-16G>A single nucleotide variant Costello syndrome [RCV002087656] Chr11:533628 [GRCh38]
Chr11:533628 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.315C>T (p.Asp105=) single nucleotide variant Costello syndrome [RCV002146422]|not specified [RCV005239293] Chr11:533588 [GRCh38]
Chr11:533588 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.291-16G>C single nucleotide variant Costello syndrome [RCV002167655] Chr11:533628 [GRCh38]
Chr11:533628 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.451-17C>T single nucleotide variant Costello syndrome [RCV002081150] Chr11:532772 [GRCh38]
Chr11:532772 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.451-13C>A single nucleotide variant Costello syndrome [RCV002193154] Chr11:532768 [GRCh38]
Chr11:532768 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.112-19G>A single nucleotide variant Costello syndrome [RCV002197464] Chr11:533963 [GRCh38]
Chr11:533963 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.304C>A (p.Arg102=) single nucleotide variant Costello syndrome [RCV002113793] Chr11:533599 [GRCh38]
Chr11:533599 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.112-12G>A single nucleotide variant Costello syndrome [RCV002097425] Chr11:533956 [GRCh38]
Chr11:533956 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.291-17C>T single nucleotide variant Costello syndrome [RCV002080842] Chr11:533629 [GRCh38]
Chr11:533629 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.451-22_451-8dup duplication Costello syndrome [RCV002149986] Chr11:532762..532763 [GRCh38]
Chr11:532762..532763 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.555G>A (p.Lys185=) single nucleotide variant Costello syndrome [RCV002152245] Chr11:532651 [GRCh38]
Chr11:532651 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.540C>T (p.Gly180=) single nucleotide variant Costello syndrome [RCV002077104] Chr11:532666 [GRCh38]
Chr11:532666 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.291-15C>T single nucleotide variant Costello syndrome [RCV002093772] Chr11:533627 [GRCh38]
Chr11:533627 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.324C>T (p.Asp108=) single nucleotide variant Costello syndrome [RCV002094596] Chr11:533579 [GRCh38]
Chr11:533579 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.451-13C>T single nucleotide variant Costello syndrome [RCV002126356] Chr11:532768 [GRCh38]
Chr11:532768 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.480G>C (p.Val160=) single nucleotide variant Costello syndrome [RCV002128170] Chr11:532726 [GRCh38]
Chr11:532726 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.450+16A>G single nucleotide variant Costello syndrome [RCV002173201] Chr11:533437 [GRCh38]
Chr11:533437 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.249C>G (p.Ala83=) single nucleotide variant Costello syndrome [RCV002078499] Chr11:533807 [GRCh38]
Chr11:533807 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.450+20C>G single nucleotide variant Costello syndrome [RCV002197051] Chr11:533433 [GRCh38]
Chr11:533433 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.195C>T (p.Ser65=) single nucleotide variant Costello syndrome [RCV002180731] Chr11:533861 [GRCh38]
Chr11:533861 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.451-9C>T single nucleotide variant Costello syndrome [RCV002159464] Chr11:532764 [GRCh38]
Chr11:532764 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.462T>C (p.Asp154=) single nucleotide variant Cardiovascular phenotype [RCV002337232]|Costello syndrome [RCV002220462] Chr11:532744 [GRCh38]
Chr11:532744 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.284A>G (p.Gln95Arg) single nucleotide variant Costello syndrome [RCV002198241] Chr11:533772 [GRCh38]
Chr11:533772 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.300C>T (p.Ile100=) single nucleotide variant Cardiovascular phenotype [RCV002434578]|Costello syndrome [RCV002154476] Chr11:533603 [GRCh38]
Chr11:533603 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.450+13T>C single nucleotide variant Costello syndrome [RCV002098481] Chr11:533440 [GRCh38]
Chr11:533440 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.138T>C (p.Ile46=) single nucleotide variant Costello syndrome [RCV002200887] Chr11:533918 [GRCh38]
Chr11:533918 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.37_38inv (p.Gly13Pro) inversion not specified [RCV002223171] Chr11:534285..534286 [GRCh38]
Chr11:534285..534286 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.111+8T>C single nucleotide variant Costello syndrome [RCV002178880] Chr11:534204 [GRCh38]
Chr11:534204 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.451-6T>C single nucleotide variant Costello syndrome [RCV002081687] Chr11:532761 [GRCh38]
Chr11:532761 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.495G>A (p.Gln165=) single nucleotide variant Costello syndrome [RCV002218948] Chr11:532711 [GRCh38]
Chr11:532711 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.342G>C (p.Val114=) single nucleotide variant Costello syndrome [RCV002183336] Chr11:533561 [GRCh38]
Chr11:533561 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.290+10G>C single nucleotide variant Costello syndrome [RCV002198483] Chr11:533756 [GRCh38]
Chr11:533756 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.564C>G (p.Leu188=) single nucleotide variant Costello syndrome [RCV002164139] Chr11:532642 [GRCh38]
Chr11:532642 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.450+15C>T single nucleotide variant Costello syndrome [RCV002100893] Chr11:533438 [GRCh38]
Chr11:533438 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.112-9C>T single nucleotide variant Costello syndrome [RCV002100938] Chr11:533953 [GRCh38]
Chr11:533953 [GRCh37]
Chr11:11p15.5		 likely benign
NM_176795.5(HRAS):c.451-12_451del deletion not specified [RCV002223165] Chr11:533358..533370 [GRCh38]
Chr11:533358..533370 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.291-18T>C single nucleotide variant Costello syndrome [RCV002164572] Chr11:533630 [GRCh38]
Chr11:533630 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.237G>T (p.Leu79=) single nucleotide variant Costello syndrome [RCV002083168] Chr11:533819 [GRCh38]
Chr11:533819 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.451-12C>T single nucleotide variant Costello syndrome [RCV002217118] Chr11:532767 [GRCh38]
Chr11:532767 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.111+17C>T single nucleotide variant Costello syndrome [RCV002202177] Chr11:534195 [GRCh38]
Chr11:534195 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.447G>A (p.Arg149=) single nucleotide variant Costello syndrome [RCV002178605] Chr11:533456 [GRCh38]
Chr11:533456 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.112-19G>C single nucleotide variant Costello syndrome [RCV002140662] Chr11:533963 [GRCh38]
Chr11:533963 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.291-15C>A single nucleotide variant Costello syndrome [RCV002198596] Chr11:533627 [GRCh38]
Chr11:533627 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.112-20dup duplication Costello syndrome [RCV002198809] Chr11:533963..533964 [GRCh38]
Chr11:533963..533964 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.408C>T (p.Ser136=) single nucleotide variant Costello syndrome [RCV002158888] Chr11:533495 [GRCh38]
Chr11:533495 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.6G>A (p.Thr2=) single nucleotide variant Cardiovascular phenotype [RCV002373015]|Costello syndrome [RCV002159247] Chr11:534317 [GRCh38]
Chr11:534317 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.9:g.(?_532636)_(819925_?)dup duplication Neutral lipid storage myopathy [RCV003109697] Chr11:532636..819925 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.55C>A (p.Leu19Met) single nucleotide variant Costello syndrome [RCV003111807] Chr11:534268 [GRCh38]
Chr11:534268 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.489C>G (p.Ile163Met) single nucleotide variant Costello syndrome [RCV003111810] Chr11:532717 [GRCh38]
Chr11:532717 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.376G>T (p.Glu126Ter) single nucleotide variant Costello syndrome [RCV003116030] Chr11:533527 [GRCh38]
Chr11:533527 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532636)_(554276_?)dup duplication Costello syndrome [RCV003116352]|not provided [RCV003116353] Chr11:532636..554276 [GRCh37]
Chr11:11p15.5		 uncertain significance|no classifications from unflagged records
NM_005343.4(HRAS):c.191_220dup (p.Arg73_Thr74insAsnSerAlaMetArgAspGlnTyrMetArg) duplication not provided [RCV002254474] Chr11:533835..533836 [GRCh38]
Chr11:533835..533836 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_005343.4(HRAS):c.221C>T (p.Thr74Ile) single nucleotide variant Costello syndrome [RCV003774794]|Hereditary cancer-predisposing syndrome [RCV002259278] Chr11:533835 [GRCh38]
Chr11:533835 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.191_217dup (p.Met72_Arg73insHisSerAlaMetArgAspGlnTyrMet) duplication not provided [RCV002254473] Chr11:533838..533839 [GRCh38]
Chr11:533838..533839 [GRCh37]
Chr11:11p15.5		 likely pathogenic
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NM_005343.4(HRAS):c.199A>T (p.Met67Leu) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292424] Chr11:533857 [GRCh38]
Chr11:533857 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.262A>T (p.Lys88Ter) single nucleotide variant not provided [RCV002292174] Chr11:533794 [GRCh38]
Chr11:533794 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.146del (p.Glu49fs) deletion Prostate cancer, hereditary, 1 [RCV002292420] Chr11:533910 [GRCh38]
Chr11:533910 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.144_145insC (p.Glu49fs) insertion Prostate cancer, hereditary, 1 [RCV002292421] Chr11:533911..533912 [GRCh38]
Chr11:533911..533912 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.243G>T (p.Val81=) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292423] Chr11:533813 [GRCh38]
Chr11:533813 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del deletion Thalassemia, gamma-delta-beta [RCV000015529] Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4		 pathogenic
NM_005343.4(HRAS):c.149delinsGA (p.Thr50fs) indel Prostate cancer, hereditary, 1 [RCV002292419] Chr11:533907 [GRCh38]
Chr11:533907 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.170A>C (p.Asp57Ala) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292422] Chr11:533886 [GRCh38]
Chr11:533886 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.302A>T (p.Lys101Ile) single nucleotide variant Cardiovascular phenotype [RCV002435979] Chr11:533601 [GRCh38]
Chr11:533601 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.290+3G>T single nucleotide variant Cardiovascular phenotype [RCV002438068]|Costello syndrome [RCV003102855] Chr11:533763 [GRCh38]
Chr11:533763 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:461373-2157956)x4 copy number gain not provided [RCV002473945] Chr11:461373..2157956 [GRCh37]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_005343.4(HRAS):c.559G>A (p.Val187Met) single nucleotide variant Costello syndrome [RCV002304250] Chr11:532647 [GRCh38]
Chr11:532647 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.276C>T (p.Asp92=) single nucleotide variant Cardiovascular phenotype [RCV002439594] Chr11:533780 [GRCh38]
Chr11:533780 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.484G>C (p.Glu162Gln) single nucleotide variant Costello syndrome [RCV002302904] Chr11:532722 [GRCh38]
Chr11:532722 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.21G>C (p.Val7=) single nucleotide variant Cardiovascular phenotype [RCV002425716]|Costello syndrome [RCV003098707]|not provided [RCV002466758] Chr11:534302 [GRCh38]
Chr11:534302 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.530G>C (p.Ser177Thr) single nucleotide variant Costello syndrome [RCV002300209] Chr11:532676 [GRCh38]
Chr11:532676 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.325G>T (p.Val109Leu) single nucleotide variant Costello syndrome [RCV002295996] Chr11:533578 [GRCh38]
Chr11:533578 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.157T>C (p.Leu53=) single nucleotide variant Costello syndrome [RCV002686015] Chr11:533899 [GRCh38]
Chr11:533899 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.194G>A (p.Ser65Asn) single nucleotide variant Costello syndrome [RCV003074548] Chr11:533862 [GRCh38]
Chr11:533862 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.451G>A (p.Gly151Arg) single nucleotide variant Costello syndrome [RCV002996801] Chr11:532755 [GRCh38]
Chr11:532755 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.401_402insAAGACCTCGC (p.Ser136fs) insertion Costello syndrome [RCV002881981] Chr11:533501..533502 [GRCh38]
Chr11:533501..533502 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.534C>T (p.Gly178=) single nucleotide variant Costello syndrome [RCV002775568] Chr11:532672 [GRCh38]
Chr11:532672 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.473C>G (p.Thr158Arg) single nucleotide variant Costello syndrome [RCV003076952] Chr11:532733 [GRCh38]
Chr11:532733 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.112-18A>T single nucleotide variant Costello syndrome [RCV003015653] Chr11:533962 [GRCh38]
Chr11:533962 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.529_531del (p.Ser177del) deletion Costello syndrome [RCV002861544] Chr11:532675..532677 [GRCh38]
Chr11:532675..532677 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.16_24del (p.Leu6_Val8del) deletion Costello syndrome [RCV002863174] Chr11:534299..534307 [GRCh38]
Chr11:534299..534307 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.531T>C (p.Ser177=) single nucleotide variant Costello syndrome [RCV002571927] Chr11:532675 [GRCh38]
Chr11:532675 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.518C>G (p.Pro173Arg) single nucleotide variant Costello syndrome [RCV002825450] Chr11:532688 [GRCh38]
Chr11:532688 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.262A>G (p.Lys88Glu) single nucleotide variant Costello syndrome [RCV002846474] Chr11:533794 [GRCh38]
Chr11:533794 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.290+19G>C single nucleotide variant Costello syndrome [RCV002760412] Chr11:533747 [GRCh38]
Chr11:533747 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.112-17G>T single nucleotide variant Costello syndrome [RCV002998955] Chr11:533961 [GRCh38]
Chr11:533961 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.540C>A (p.Gly180=) single nucleotide variant Costello syndrome [RCV002866882] Chr11:532666 [GRCh38]
Chr11:532666 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.450+7C>T single nucleotide variant Costello syndrome [RCV003078717] Chr11:533446 [GRCh38]
Chr11:533446 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.567C>T (p.Ser189=) single nucleotide variant Costello syndrome [RCV002592978] Chr11:532639 [GRCh38]
Chr11:532639 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.402C>T (p.Ala134=) single nucleotide variant Costello syndrome [RCV002659302] Chr11:533501 [GRCh38]
Chr11:533501 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.183G>A (p.Gln61=) single nucleotide variant Costello syndrome [RCV002705877] Chr11:533873 [GRCh38]
Chr11:533873 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.450+14C>T single nucleotide variant Costello syndrome [RCV002658816] Chr11:533439 [GRCh38]
Chr11:533439 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.250A>G (p.Ile84Val) single nucleotide variant Costello syndrome [RCV002571664] Chr11:533806 [GRCh38]
Chr11:533806 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.290+7C>T single nucleotide variant Costello syndrome [RCV002636482] Chr11:533759 [GRCh38]
Chr11:533759 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.313G>C (p.Asp105His) single nucleotide variant Costello syndrome [RCV003054560] Chr11:533590 [GRCh38]
Chr11:533590 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.446G>A (p.Arg149Gln) single nucleotide variant Costello syndrome [RCV002885723]|HRAS-related disorder [RCV003395528] Chr11:533457 [GRCh38]
Chr11:533457 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.189G>C (p.Glu63Asp) single nucleotide variant Costello syndrome [RCV002705677] Chr11:533867 [GRCh38]
Chr11:533867 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.403C>T (p.Arg135Ter) single nucleotide variant Costello syndrome [RCV003078535] Chr11:533500 [GRCh38]
Chr11:533500 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.122G>C (p.Arg41Pro) single nucleotide variant Costello syndrome [RCV002790114] Chr11:533934 [GRCh38]
Chr11:533934 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.566_568del (p.Ser189del) deletion Costello syndrome [RCV003005736] Chr11:532638..532640 [GRCh38]
Chr11:532638..532640 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.230G>A (p.Gly77Asp) single nucleotide variant Costello syndrome [RCV002595577] Chr11:533826 [GRCh38]
Chr11:533826 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.477G>T (p.Leu159Phe) single nucleotide variant Costello syndrome [RCV003057735] Chr11:532729 [GRCh38]
Chr11:532729 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.44G>T (p.Gly15Val) single nucleotide variant Costello syndrome [RCV003057955] Chr11:534279 [GRCh38]
Chr11:534279 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.151T>C (p.Cys51Arg) single nucleotide variant Costello syndrome [RCV003040416] Chr11:533905 [GRCh38]
Chr11:533905 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.225G>C (p.Gly75=) single nucleotide variant Costello syndrome [RCV002983034] Chr11:533831 [GRCh38]
Chr11:533831 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.451-4C>G single nucleotide variant Costello syndrome [RCV003010060] Chr11:532759 [GRCh38]
Chr11:532759 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.191dup (p.Tyr64Ter) duplication Costello syndrome [RCV002877228] Chr11:533864..533865 [GRCh38]
Chr11:533864..533865 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.450+9G>A single nucleotide variant Costello syndrome [RCV002578989] Chr11:533444 [GRCh38]
Chr11:533444 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.438C>T (p.Ala146=) single nucleotide variant Costello syndrome [RCV003089864] Chr11:533465 [GRCh38]
Chr11:533465 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.450+18C>A single nucleotide variant Costello syndrome [RCV002715106] Chr11:533435 [GRCh38]
Chr11:533435 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.218G>A (p.Arg73His) single nucleotide variant Costello syndrome [RCV003044909] Chr11:533838 [GRCh38]
Chr11:533838 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.450+20C>T single nucleotide variant Costello syndrome [RCV002579954] Chr11:533433 [GRCh38]
Chr11:533433 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.451-20T>G single nucleotide variant Costello syndrome [RCV002898970] Chr11:532775 [GRCh38]
Chr11:532775 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.291G>A (p.Arg97=) single nucleotide variant Costello syndrome [RCV002877412] Chr11:533612 [GRCh38]
Chr11:533612 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_005343.4(HRAS):c.247G>A (p.Ala83Thr) single nucleotide variant Costello syndrome [RCV003009575] Chr11:533809 [GRCh38]
Chr11:533809 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.406A>G (p.Ser136Gly) single nucleotide variant Costello syndrome [RCV002833358] Chr11:533497 [GRCh38]
Chr11:533497 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.479T>G (p.Val160Gly) single nucleotide variant Costello syndrome [RCV002646576] Chr11:532727 [GRCh38]
Chr11:532727 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.486G>C (p.Glu162Asp) single nucleotide variant Costello syndrome [RCV003030820] Chr11:532720 [GRCh38]
Chr11:532720 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.319G>A (p.Asp107Asn) single nucleotide variant Costello syndrome [RCV003027950] Chr11:533584 [GRCh38]
Chr11:533584 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.330C>A (p.Pro110=) single nucleotide variant Costello syndrome [RCV003065809] Chr11:533573 [GRCh38]
Chr11:533573 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.215T>C (p.Met72Thr) single nucleotide variant Costello syndrome [RCV002939038] Chr11:533841 [GRCh38]
Chr11:533841 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.111+12G>A single nucleotide variant Costello syndrome [RCV003048383] Chr11:534200 [GRCh38]
Chr11:534200 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.529_530del (p.Ser177fs) microsatellite Costello syndrome [RCV003087592] Chr11:532676..532677 [GRCh38]
Chr11:532676..532677 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.323A>G (p.Asp108Gly) single nucleotide variant Costello syndrome [RCV002588959] Chr11:533580 [GRCh38]
Chr11:533580 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.243G>A (p.Val81=) single nucleotide variant Costello syndrome [RCV002586862] Chr11:533813 [GRCh38]
Chr11:533813 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.351G>A (p.Lys117=) single nucleotide variant Costello syndrome [RCV003051932] Chr11:533552 [GRCh38]
Chr11:533552 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.112-11T>A single nucleotide variant Costello syndrome [RCV003072336] Chr11:533955 [GRCh38]
Chr11:533955 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.112-14C>G single nucleotide variant Costello syndrome [RCV003070110] Chr11:533958 [GRCh38]
Chr11:533958 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.294G>A (p.Glu98=) single nucleotide variant Costello syndrome [RCV002612633] Chr11:533609 [GRCh38]
Chr11:533609 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NC_000011.10:g.530428_530455del deletion not provided [RCV002292784] Chr11:530420..530447 [GRCh38]
Chr11:530420..530447 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NC_000011.10:g.531072G>A single nucleotide variant not provided [RCV003222685] Chr11:531072 [GRCh38]
Chr11:531072 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.10:g.530466G>C single nucleotide variant not provided [RCV002262296] Chr11:530466 [GRCh38]
Chr11:530466 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NC_000011.10:g.531070G>A single nucleotide variant not provided [RCV002262298] Chr11:531070 [GRCh38]
Chr11:531070 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NC_000011.10:g.531174C>G single nucleotide variant not provided [RCV003312182] Chr11:531174 [GRCh38]
Chr11:531174 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.10:g.528639C>T single nucleotide variant not provided [RCV003394662] Chr11:528639 [GRCh38]
Chr11:528639 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.10:g.530895G>C single nucleotide variant not provided [RCV003394669] Chr11:530895 [GRCh38]
Chr11:530895 [GRCh37]
Chr11:11p15.5		 benign
NC_000011.10:g.530447_530474del deletion not provided [RCV003394664] Chr11:530439..530466 [GRCh38]
Chr11:530439..530466 [GRCh37]
Chr11:11p15.5		 benign
NC_000011.10:g.530894G>C single nucleotide variant not provided [RCV003394668] Chr11:530894 [GRCh38]
Chr11:530894 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.104C>T (p.Thr35Ile) single nucleotide variant not provided [RCV004778773] Chr11:534219 [GRCh38]
Chr11:534219 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.450+181G>A single nucleotide variant Epidermolytic nevus [RCV003458963] Chr11:533272 [GRCh38]
Chr11:533272 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.10:g.530447A>G single nucleotide variant not provided [RCV002211166] Chr11:530447 [GRCh38]
Chr11:530447 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NC_000011.10:g.530428_530483del deletion not provided [RCV003312181] Chr11:530419..530474 [GRCh38]
Chr11:530419..530474 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.10:g.530614G>C single nucleotide variant not provided [RCV003389985] Chr11:530614 [GRCh38]
Chr11:530614 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.10:g.528669C>T single nucleotide variant not provided [RCV003394663] Chr11:528669 [GRCh38]
Chr11:528669 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.10:g.530587G>C single nucleotide variant not provided [RCV003394667] Chr11:530587 [GRCh38]
Chr11:530587 [GRCh37]
Chr11:11p15.5		 benign
NC_000011.10:g.531063G>C single nucleotide variant not provided [RCV003394671] Chr11:531063 [GRCh38]
Chr11:531063 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.10:g.529719C>G single nucleotide variant not provided [RCV003389984] Chr11:529719 [GRCh38]
Chr11:529719 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.10:g.531047C>T single nucleotide variant not provided [RCV003394670] Chr11:531047 [GRCh38]
Chr11:531047 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3 copy number gain not provided [RCV003484828] Chr11:192764..3362853 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_005343.4(HRAS):c.179_205dup (p.Arg68_Asp69insGlyGlnGluGluTyrSerAlaMetArg) duplication HRAS-related disorder [RCV003400256] Chr11:533850..533851 [GRCh38]
Chr11:533850..533851 [GRCh37]
Chr11:11p15.5		 likely pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NC_000011.10:g.530475G>A single nucleotide variant not provided [RCV002262297] Chr11:530475 [GRCh38]
Chr11:530475 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_005343.4(HRAS):c.460G>T (p.Asp154Tyr) single nucleotide variant Costello syndrome [RCV003627913] Chr11:532746 [GRCh38]
Chr11:532746 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.291-5C>G single nucleotide variant Costello syndrome [RCV003515141] Chr11:533617 [GRCh38]
Chr11:533617 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.105T>C (p.Thr35=) single nucleotide variant Costello syndrome [RCV003628152] Chr11:534218 [GRCh38]
Chr11:534218 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.342G>A (p.Val114=) single nucleotide variant Costello syndrome [RCV003514117] Chr11:533561 [GRCh38]
Chr11:533561 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.221C>G (p.Thr74Ser) single nucleotide variant Costello syndrome [RCV003626595] Chr11:533835 [GRCh38]
Chr11:533835 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.290+16C>T single nucleotide variant Costello syndrome [RCV003515370] Chr11:533750 [GRCh38]
Chr11:533750 [GRCh37]
Chr11:11p15.5		 likely benign
GRCh38/hg38 11p15.5(chr11:313988-723647) copy number loss Autism spectrum disorder [RCV003883401] Chr11:313988..723647 [GRCh38]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.45C>G (p.Gly15=) single nucleotide variant Costello syndrome [RCV003514704] Chr11:534278 [GRCh38]
Chr11:534278 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.59C>T (p.Thr20Ile) single nucleotide variant Costello syndrome [RCV003514667] Chr11:534264 [GRCh38]
Chr11:534264 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.146A>G (p.Glu49Gly) single nucleotide variant Costello syndrome [RCV003515072] Chr11:533910 [GRCh38]
Chr11:533910 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.373del (p.Val125fs) deletion Costello syndrome [RCV003627893] Chr11:533530 [GRCh38]
Chr11:533530 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.424_426del (p.Ile142del) deletion Costello syndrome [RCV003516394] Chr11:533477..533479 [GRCh38]
Chr11:533477..533479 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.158T>G (p.Leu53Trp) single nucleotide variant Costello syndrome [RCV003515956] Chr11:533898 [GRCh38]
Chr11:533898 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.291-11C>T single nucleotide variant Costello syndrome [RCV003882561] Chr11:533623 [GRCh38]
Chr11:533623 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.217C>T (p.Arg73Cys) single nucleotide variant Costello syndrome [RCV003830515] Chr11:533839 [GRCh38]
Chr11:533839 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.374T>G (p.Val125Gly) single nucleotide variant Costello syndrome [RCV003627154] Chr11:533529 [GRCh38]
Chr11:533529 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.451-16A>G single nucleotide variant Costello syndrome [RCV003515472] Chr11:532771 [GRCh38]
Chr11:532771 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.412G>C (p.Gly138Arg) single nucleotide variant Costello syndrome [RCV003627248] Chr11:533491 [GRCh38]
Chr11:533491 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.305G>A (p.Arg102Gln) single nucleotide variant Costello syndrome [RCV003628118] Chr11:533598 [GRCh38]
Chr11:533598 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.91G>C (p.Glu31Gln) single nucleotide variant Costello syndrome [RCV003628135] Chr11:534232 [GRCh38]
Chr11:534232 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.522T>C (p.Pro174=) single nucleotide variant Costello syndrome [RCV003830662] Chr11:532684 [GRCh38]
Chr11:532684 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.290+15G>C single nucleotide variant Costello syndrome [RCV003514925] Chr11:533751 [GRCh38]
Chr11:533751 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.131T>C (p.Val44Ala) single nucleotide variant Costello syndrome [RCV003514885] Chr11:533925 [GRCh38]
Chr11:533925 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.532G>A (p.Gly178Ser) single nucleotide variant Costello syndrome [RCV003515621] Chr11:532674 [GRCh38]
Chr11:532674 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.158T>A (p.Leu53Ter) single nucleotide variant Costello syndrome [RCV003628322] Chr11:533898 [GRCh38]
Chr11:533898 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.201G>A (p.Met67Ile) single nucleotide variant Costello syndrome [RCV003628373] Chr11:533855 [GRCh38]
Chr11:533855 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.74A>G (p.Gln25Arg) single nucleotide variant Costello syndrome [RCV003828868] Chr11:534249 [GRCh38]
Chr11:534249 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.290+3G>A single nucleotide variant Costello syndrome [RCV003516258] Chr11:533763 [GRCh38]
Chr11:533763 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.538G>C (p.Gly180Arg) single nucleotide variant Costello syndrome [RCV003515374] Chr11:532668 [GRCh38]
Chr11:532668 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.122G>A (p.Arg41Gln) single nucleotide variant Costello syndrome [RCV003515838] Chr11:533934 [GRCh38]
Chr11:533934 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.129G>C (p.Gln43His) single nucleotide variant Costello syndrome [RCV003515930] Chr11:533927 [GRCh38]
Chr11:533927 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.440_450+16del deletion Costello syndrome [RCV003628571] Chr11:533437..533463 [GRCh38]
Chr11:533437..533463 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.407G>C (p.Ser136Thr) single nucleotide variant Costello syndrome [RCV003515519] Chr11:533496 [GRCh38]
Chr11:533496 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.516C>A (p.Asn172Lys) single nucleotide variant Costello syndrome [RCV003627985] Chr11:532690 [GRCh38]
Chr11:532690 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.511C>G (p.Leu171Val) single nucleotide variant Costello syndrome [RCV003514672] Chr11:532695 [GRCh38]
Chr11:532695 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.450+19C>T single nucleotide variant Costello syndrome [RCV003515202] Chr11:533434 [GRCh38]
Chr11:533434 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.290+7C>G single nucleotide variant Costello syndrome [RCV003628317] Chr11:533759 [GRCh38]
Chr11:533759 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.450+4A>C single nucleotide variant Costello syndrome [RCV003825484] Chr11:533449 [GRCh38]
Chr11:533449 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.474G>C (p.Thr158=) single nucleotide variant Costello syndrome [RCV003626581] Chr11:532732 [GRCh38]
Chr11:532732 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.306G>A (p.Arg102=) single nucleotide variant Costello syndrome [RCV003628098] Chr11:533597 [GRCh38]
Chr11:533597 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.135C>T (p.Val45=) single nucleotide variant Cardiovascular phenotype [RCV004992683]|Costello syndrome [RCV003626915] Chr11:533921 [GRCh38]
Chr11:533921 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.429G>A (p.Glu143=) single nucleotide variant Costello syndrome [RCV003627206] Chr11:533474 [GRCh38]
Chr11:533474 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.189G>A (p.Glu63=) single nucleotide variant Costello syndrome [RCV003514223] Chr11:533867 [GRCh38]
Chr11:533867 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.67C>T (p.Leu23=) single nucleotide variant Costello syndrome [RCV003627545] Chr11:534256 [GRCh38]
Chr11:534256 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.443C>G (p.Thr148Ser) single nucleotide variant Costello syndrome [RCV003627211] Chr11:533460 [GRCh38]
Chr11:533460 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.290+15G>A single nucleotide variant Costello syndrome [RCV003514181] Chr11:533751 [GRCh38]
Chr11:533751 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.197C>T (p.Ala66Val) single nucleotide variant Costello syndrome [RCV003628532] Chr11:533859 [GRCh38]
Chr11:533859 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.395A>G (p.Asp132Gly) single nucleotide variant Costello syndrome [RCV003628575] Chr11:533508 [GRCh38]
Chr11:533508 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.111+15G>C single nucleotide variant Costello syndrome [RCV003627839] Chr11:534197 [GRCh38]
Chr11:534197 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.290+19G>T single nucleotide variant Costello syndrome [RCV003627867] Chr11:533747 [GRCh38]
Chr11:533747 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.295C>T (p.Gln99Ter) single nucleotide variant Costello syndrome [RCV003626439] Chr11:533608 [GRCh38]
Chr11:533608 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.457G>T (p.Glu153Ter) single nucleotide variant Costello syndrome [RCV003627822] Chr11:532749 [GRCh38]
Chr11:532749 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.445dup (p.Arg149fs) duplication not provided [RCV004588709] Chr11:533457..533458 [GRCh38]
Chr11:533457..533458 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.331A>T (p.Met111Leu) single nucleotide variant Cardiovascular phenotype [RCV004366729]|Costello syndrome [RCV003816990] Chr11:533572 [GRCh38]
Chr11:533572 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.445C>A (p.Arg149=) single nucleotide variant Costello syndrome [RCV003839596] Chr11:533458 [GRCh38]
Chr11:533458 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.473C>A (p.Thr158Lys) single nucleotide variant Costello syndrome [RCV003871128] Chr11:532733 [GRCh38]
Chr11:532733 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.473_475delinsG (p.Thr158fs) indel Costello syndrome [RCV003867366] Chr11:532731..532733 [GRCh38]
Chr11:532731..532733 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.451-14C>A single nucleotide variant Costello syndrome [RCV003869724] Chr11:532769 [GRCh38]
Chr11:532769 [GRCh37]
Chr11:11p15.5		 likely benign
GRCh37/hg19 11p15.5(chr11:372929-762338)x3 copy number gain not specified [RCV003986922] Chr11:372929..762338 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.111+10G>A single nucleotide variant Costello syndrome [RCV003514442] Chr11:534202 [GRCh38]
Chr11:534202 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.468C>G (p.Phe156Leu) single nucleotide variant not provided [RCV001563014] Chr11:532738 [GRCh38]
Chr11:532738 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_005343.4(HRAS):c.*5+24C>T single nucleotide variant not provided [RCV001657631] Chr11:532607 [GRCh38]
Chr11:532607 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.*6-48G>A single nucleotide variant not provided [RCV001715658] Chr11:532570 [GRCh38]
Chr11:532570 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.-33G>A single nucleotide variant not provided [RCV001615644] Chr11:534355 [GRCh38]
Chr11:534355 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.422A>G (p.Tyr141Cys) single nucleotide variant Costello syndrome [RCV001039872]|Hereditary cancer-predisposing syndrome [RCV002258094] Chr11:533481 [GRCh38]
Chr11:533481 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.-5G>A single nucleotide variant not specified [RCV001251409] Chr11:534327 [GRCh38]
Chr11:534327 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_005343.4(HRAS):c.358C>G (p.Leu120Val) single nucleotide variant Costello syndrome [RCV001324745] Chr11:533545 [GRCh38]
Chr11:533545 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.134T>A (p.Val45Asp) single nucleotide variant Cardiovascular phenotype [RCV003169563]|Costello syndrome [RCV001335259] Chr11:533922 [GRCh38]
Chr11:533922 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.379T>C (p.Ser127Pro) single nucleotide variant Cardiovascular phenotype [RCV004036624]|Costello syndrome [RCV001350388] Chr11:533524 [GRCh38]
Chr11:533524 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.-2C>A single nucleotide variant not specified [RCV001328343] Chr11:534324 [GRCh38]
Chr11:534324 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.404G>A (p.Arg135Gln) single nucleotide variant Costello syndrome [RCV001298446] Chr11:533499 [GRCh38]
Chr11:533499 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.-54+103CGG[6] microsatellite not provided [RCV001762843] Chr11:535290..535295 [GRCh38]
Chr11:535290..535295 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.429G>C (p.Glu143Asp) single nucleotide variant Costello syndrome [RCV002004007] Chr11:533474 [GRCh38]
Chr11:533474 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.291-13T>G single nucleotide variant Costello syndrome [RCV002104738] Chr11:533625 [GRCh38]
Chr11:533625 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.451-14C>T single nucleotide variant Costello syndrome [RCV002215359] Chr11:532769 [GRCh38]
Chr11:532769 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.451-15T>C single nucleotide variant Costello syndrome [RCV002121516] Chr11:532770 [GRCh38]
Chr11:532770 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.19G>T (p.Val7Leu) single nucleotide variant Costello syndrome [RCV002296714] Chr11:534304 [GRCh38]
Chr11:534304 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.150G>C (p.Thr50=) single nucleotide variant Costello syndrome [RCV002858072] Chr11:533906 [GRCh38]
Chr11:533906 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.177_433dup (p.Glu98Ter) duplication Costello syndrome [RCV002903700] Chr11:533463..533464 [GRCh38]
Chr11:533463..533464 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.451-19C>T single nucleotide variant Costello syndrome [RCV003078725] Chr11:532774 [GRCh38]
Chr11:532774 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.253A>G (p.Asn85Asp) single nucleotide variant Costello syndrome [RCV002801443] Chr11:533803 [GRCh38]
Chr11:533803 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.178G>C (p.Gly60Arg) single nucleotide variant Costello syndrome [RCV003082358] Chr11:533878 [GRCh38]
Chr11:533878 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.451G>C (p.Gly151Arg) single nucleotide variant Costello syndrome [RCV003084081] Chr11:532755 [GRCh38]
Chr11:532755 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.25dup (p.Val9fs) duplication Costello syndrome [RCV002581623] Chr11:534297..534298 [GRCh38]
Chr11:534297..534298 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:268586-748873) copy number loss Beckwith-Wiedemann syndrome due to 11p15 microdeletion [RCV003319587] Chr11:268586..748873 [GRCh37]
Chr11:11p15.5		 pathogenic
NC_000011.10:g.531065G>A single nucleotide variant not provided [RCV003389986] Chr11:531065 [GRCh38]
Chr11:531065 [GRCh37]
Chr11:11p15.5		 benign
NC_000011.10:g.530444G>A single nucleotide variant not provided [RCV003394665] Chr11:530444 [GRCh38]
Chr11:530444 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.10:g.530522G>C single nucleotide variant not provided [RCV003394666] Chr11:530522 [GRCh38]
Chr11:530522 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.483T>G (p.Arg161=) single nucleotide variant not provided [RCV003394672] Chr11:532723 [GRCh38]
Chr11:532723 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.493C>A (p.Gln165Lys) single nucleotide variant Costello syndrome [RCV003628010] Chr11:532713 [GRCh38]
Chr11:532713 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.347A>G (p.Asn116Ser) single nucleotide variant Costello syndrome [RCV003820084] Chr11:533556 [GRCh38]
Chr11:533556 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.290+11T>C single nucleotide variant Costello syndrome [RCV003863678] Chr11:533755 [GRCh38]
Chr11:533755 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.343G>A (p.Gly115Arg) single nucleotide variant Costello syndrome [RCV003840684] Chr11:533560 [GRCh38]
Chr11:533560 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.450+170T>G single nucleotide variant HRAS-related disorder [RCV003951848] Chr11:533283 [GRCh38]
Chr11:533283 [GRCh37]
Chr11:11p15.5		 likely benign
NM_176795.5(HRAS):c.457C>T (p.Arg153Cys) single nucleotide variant HRAS-related disorder [RCV003926889] Chr11:533352 [GRCh38]
Chr11:533352 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.306G>C (p.Arg102=) single nucleotide variant HRAS-related disorder [RCV003964692] Chr11:533597 [GRCh38]
Chr11:533597 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.-17C>T single nucleotide variant not specified [RCV003995105] Chr11:534339 [GRCh38]
Chr11:534339 [GRCh37]
Chr11:11p15.5		 benign
NM_005343.4(HRAS):c.434C>T (p.Ser145Leu) single nucleotide variant HRAS-related disorder [RCV003896450] Chr11:533469 [GRCh38]
Chr11:533469 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.215_216insCTCCAGCGCCATGCGGGACCAGTACAT (p.Tyr71_Met72insIleSerSerAlaMetArgAspGlnTyr) insertion Vascular malformation [RCV004566498] Chr11:533840..533841 [GRCh38]
Chr11:533840..533841 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NC_000011.9:g.(?_216698)_(2906719_?)dup duplication Beckwith-Wiedemann syndrome [RCV004580105] Chr11:216698..2906719 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NC_000011.9:g.(?_532636)_(824862_?)dup duplication Costello syndrome [RCV004580178] Chr11:532636..824862 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532636)_(533632_?)dup duplication Costello syndrome [RCV004580179] Chr11:532636..533632 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.389C>T (p.Ala130Val) single nucleotide variant not provided [RCV004588832] Chr11:533514 [GRCh38]
Chr11:533514 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532636)_(644674_?)dup duplication not provided [RCV004580366] Chr11:532636..644674 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_216698)_(679836_?)del deletion not provided [RCV004580364] Chr11:216698..679836 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.387G>A (p.Gln129=) single nucleotide variant Cardiovascular phenotype [RCV004633109] Chr11:533516 [GRCh38]
Chr11:533516 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.478G>C (p.Val160Leu) single nucleotide variant Cardiovascular phenotype [RCV004633108] Chr11:532728 [GRCh38]
Chr11:532728 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.403C>G (p.Arg135Gly) single nucleotide variant not provided [RCV004779726] Chr11:533500 [GRCh38]
Chr11:533500 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.112-9C>G single nucleotide variant Costello syndrome [RCV005103651]|HRAS-related disorder [RCV004726495] Chr11:533953 [GRCh38]
Chr11:533953 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.195C>G (p.Ser65Arg) single nucleotide variant not provided [RCV004761494]   uncertain significance
NM_005343.4(HRAS):c.197_217dup (p.Met72_Arg73insProMetArgAspGlnTyrMet) duplication HRAS-related disorder [RCV004720184] Chr11:533838..533839 [GRCh38]
Chr11:533838..533839 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_005343.4(HRAS):c.203_232dup (p.Gly77_Phe78insTrpAspGlnTyrMetArgThrGlyGluGly) duplication HRAS-related disorder [RCV004720187] Chr11:533823..533824 [GRCh38]
Chr11:533823..533824 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_005343.4(HRAS):c.550T>G (p.Cys184Gly) single nucleotide variant Large congenital melanocytic nevus [RCV005050243] Chr11:532656 [GRCh38]
Chr11:532656 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.213C>T (p.Tyr71=) single nucleotide variant Cardiovascular phenotype [RCV004991730]|Costello syndrome [RCV005110359] Chr11:533843 [GRCh38]
Chr11:533843 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.509A>G (p.Lys170Arg) single nucleotide variant Costello syndrome [RCV005107416] Chr11:532697 [GRCh38]
Chr11:532697 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.112-11T>C single nucleotide variant Costello syndrome [RCV005129268] Chr11:533955 [GRCh38]
Chr11:533955 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.291-7C>G single nucleotide variant Costello syndrome [RCV005136721] Chr11:533619 [GRCh38]
Chr11:533619 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.446G>T (p.Arg149Leu) single nucleotide variant Costello syndrome [RCV005107278] Chr11:533457 [GRCh38]
Chr11:533457 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.500A>G (p.Lys167Arg) single nucleotide variant Costello syndrome [RCV005107277] Chr11:532706 [GRCh38]
Chr11:532706 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.450+12C>T single nucleotide variant Costello syndrome [RCV005129220] Chr11:533441 [GRCh38]
Chr11:533441 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.450+6del deletion Costello syndrome [RCV005121127] Chr11:533447 [GRCh38]
Chr11:533447 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.285G>A (p.Gln95=) single nucleotide variant Costello syndrome [RCV005117868] Chr11:533771 [GRCh38]
Chr11:533771 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.377A>G (p.Glu126Gly) single nucleotide variant Costello syndrome [RCV005107280] Chr11:533526 [GRCh38]
Chr11:533526 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.111+3G>A single nucleotide variant Costello syndrome [RCV005179803] Chr11:534209 [GRCh38]
Chr11:534209 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.451-13C>G single nucleotide variant Costello syndrome [RCV005083884] Chr11:532768 [GRCh38]
Chr11:532768 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.149C>T (p.Thr50Met) single nucleotide variant Costello syndrome [RCV005179162] Chr11:533907 [GRCh38]
Chr11:533907 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.139G>A (p.Asp47Asn) single nucleotide variant Costello syndrome [RCV005082967] Chr11:533917 [GRCh38]
Chr11:533917 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.48G>A (p.Lys16=) single nucleotide variant Costello syndrome [RCV005204967] Chr11:534275 [GRCh38]
Chr11:534275 [GRCh37]
Chr11:11p15.5		 likely benign
NM_005343.4(HRAS):c.340G>A (p.Val114Met) single nucleotide variant Costello syndrome [RCV005153469] Chr11:533563 [GRCh38]
Chr11:533563 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_005343.4(HRAS):c.290+20C>T single nucleotide variant Costello syndrome [RCV005200533] Chr11:533746 [GRCh38]
Chr11:533746 [GRCh37]
Chr11:11p15.5		 likely benign
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR181A2hsa-miR-181a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blot//Functional MTI21167132
MIR143hsa-miR-143-3pMirtarbaseexternal_infoLuciferase reporter assay//Northern blot//qRT-PCRFunctional MTI21276449
MIR181A1hsa-miR-181a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blot//Functional MTI21167132

Predicted Target Of
Summary Value
Count of predictions:3988
Count of miRNA genes:859
Interacting mature miRNAs:1040
Transcripts:ENST00000311189, ENST00000397594, ENST00000397596, ENST00000417302, ENST00000451590, ENST00000462734, ENST00000468682, ENST00000478324, ENST00000479482, ENST00000482021, ENST00000493230
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1558691SCL8_HSerum cholesterol level QTL 8 (human)1.2Lipid levelHDL cholesterol1115227071Human

Markers in Region
RH75826  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711532,430 - 532,630UniSTSGRCh37
Build 3611522,430 - 522,630RGDNCBI36
Celera11594,896 - 595,096RGD
Cytogenetic Map11p15.5UniSTS
HuRef11347,169 - 347,369UniSTS
SHGC-58456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711554,760 - 554,895UniSTSGRCh37
Build 3611544,760 - 544,895RGDNCBI36
Celera11617,101 - 617,236RGD
Cytogenetic Map11p15.5UniSTS
HuRef11369,444 - 369,579UniSTS
TNG Radiation Hybrid Map11618.0UniSTS
GDB:177373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711534,055 - 534,366UniSTSGRCh37
Build 3611524,055 - 524,366RGDNCBI36
Celera11596,521 - 596,832RGD
Cytogenetic Map11p15.5UniSTS
HuRef11348,794 - 349,105UniSTS
GDB:177542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711533,838 - 533,910UniSTSGRCh37
Build 3611523,838 - 523,910RGDNCBI36
Celera11596,304 - 596,376RGD
Cytogenetic Map11p15.5UniSTS
HuRef11348,577 - 348,649UniSTS
GDB:177543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711534,258 - 534,320UniSTSGRCh37
Build 3611524,258 - 524,320RGDNCBI36
Celera11596,724 - 596,786RGD
Cytogenetic Map11p15.5UniSTS
HuRef11348,997 - 349,059UniSTS
GDB:187026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711534,352 - 534,469UniSTSGRCh37
Build 3611524,352 - 524,469RGDNCBI36
Celera11596,818 - 596,935RGD
Cytogenetic Map11p15.5UniSTS
HuRef11349,091 - 349,208UniSTS
SHGC-146715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711546,738 - 547,087UniSTSGRCh37
Build 3611536,738 - 537,087RGDNCBI36
Cytogenetic Map11p15.5UniSTS
HuRef11361,414 - 361,763UniSTS
TNG Radiation Hybrid Map11639.0UniSTS
SHGC-146716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711546,613 - 546,925UniSTSGRCh37
Build 3611536,613 - 536,925RGDNCBI36
Celera11609,073 - 609,385RGD
Cytogenetic Map11p15.5UniSTS
HuRef11361,289 - 361,601UniSTS
TNG Radiation Hybrid Map11639.0UniSTS
PMC152554P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711533,453 - 533,537UniSTSGRCh37
Build 3611523,453 - 523,537RGDNCBI36
Celera11595,919 - 596,003RGD
Cytogenetic Map11p15.5UniSTS
HuRef11348,192 - 348,276UniSTS
PMC152554P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711532,711 - 533,275UniSTSGRCh37
Build 3611522,711 - 523,275RGDNCBI36
Celera11595,177 - 595,741RGD
Cytogenetic Map11p15.5UniSTS
HuRef11347,450 - 348,014UniSTS
PMC33481P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711534,227 - 534,371UniSTSGRCh37
Build 3611524,227 - 524,371RGDNCBI36
Celera11596,693 - 596,837RGD
Cytogenetic Map11p15.5UniSTS
HuRef11348,966 - 349,110UniSTS
HRAS  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711532,943 - 533,383UniSTSGRCh37
GRCh3711532,227 - 532,350UniSTSGRCh37
Build 3611522,943 - 523,383RGDNCBI36
Celera11594,693 - 594,816UniSTS
Celera11595,409 - 595,849RGD
Cytogenetic Map11p15.5UniSTS
HuRef11346,966 - 347,089UniSTS
HuRef11347,682 - 348,122UniSTS
GeneMap99-GB4 RH Map1122.62UniSTS
NCBI RH Map1110.0UniSTS
G29883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711532,342 - 532,550UniSTSGRCh37
Build 3611522,342 - 522,550RGDNCBI36
Celera11594,808 - 595,016RGD
Cytogenetic Map11p15.5UniSTS
HuRef11347,081 - 347,289UniSTS


Related Rat Strains
The following Strains have been annotated to HRAS
SD-Tg(CAG-HRAS*G12V)250Htsu    


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1949 465 2270 7304 6470 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_176795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB451336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC137894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF375987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF493916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH001445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ270946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ270947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ437024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM801600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM801632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM808879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ574535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ674260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS566142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN990077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF015887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD032931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J00277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC006853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K00654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M19990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M25876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M28497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M30539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M38453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X01227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X01228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000311189   ⟹   ENSP00000309845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11532,242 - 535,576 (-)Ensembl
Ensembl Acc Id: ENST00000397594   ⟹   ENSP00000380722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11532,242 - 534,375 (-)Ensembl
Ensembl Acc Id: ENST00000397596   ⟹   ENSP00000380723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11532,242 - 535,339 (-)Ensembl
Ensembl Acc Id: ENST00000417302   ⟹   ENSP00000388246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11532,242 - 535,576 (-)Ensembl
Ensembl Acc Id: ENST00000451590   ⟹   ENSP00000407586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11532,243 - 535,550 (-)Ensembl
Ensembl Acc Id: ENST00000462734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11532,275 - 537,321 (-)Ensembl
Ensembl Acc Id: ENST00000468682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11533,795 - 537,287 (-)Ensembl
Ensembl Acc Id: ENST00000478324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11532,242 - 533,612 (-)Ensembl
Ensembl Acc Id: ENST00000479482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11532,642 - 533,976 (-)Ensembl
Ensembl Acc Id: ENST00000482021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11534,279 - 534,587 (-)Ensembl
Ensembl Acc Id: ENST00000493230   ⟹   ENSP00000434023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11532,242 - 535,538 (-)Ensembl
RefSeq Acc Id: NM_001130442   ⟹   NP_001123914
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811532,242 - 535,576 (-)NCBI
GRCh3711532,242 - 535,561 (-)NCBI
HuRef11346,981 - 349,115 (-)NCBI
CHM1_111529,852 - 534,482 (-)NCBI
T2T-CHM13v2.011579,238 - 582,554 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318054   ⟹   NP_001304983
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811532,242 - 535,576 (-)NCBI
CHM1_111529,852 - 534,482 (-)NCBI
T2T-CHM13v2.011579,238 - 582,554 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005343   ⟹   NP_005334
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811532,242 - 535,576 (-)NCBI
GRCh3711532,242 - 535,561 (-)NCBI
Build 3611522,242 - 525,550 (-)NCBI Archive
HuRef11346,981 - 349,115 (-)NCBI
CHM1_111529,852 - 534,482 (-)NCBI
T2T-CHM13v2.011579,238 - 582,554 (-)NCBI
Sequence:
RefSeq Acc Id: NM_176795   ⟹   NP_789765
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811532,242 - 535,576 (-)NCBI
GRCh3711532,242 - 535,561 (-)NCBI
Build 3611522,242 - 525,550 (-)NCBI Archive
HuRef11346,981 - 349,115 (-)NCBI
CHM1_111529,852 - 534,482 (-)NCBI
T2T-CHM13v2.011579,238 - 582,554 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054368610   ⟹   XP_054224585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011579,238 - 582,547 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001123914 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304983 (Get FASTA)   NCBI Sequence Viewer  
  NP_005334 (Get FASTA)   NCBI Sequence Viewer  
  NP_789765 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224585 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35683 (Get FASTA)   NCBI Sequence Viewer  
  AAA35685 (Get FASTA)   NCBI Sequence Viewer  
  AAA35687 (Get FASTA)   NCBI Sequence Viewer  
  AAA36557 (Get FASTA)   NCBI Sequence Viewer  
  AAA52693 (Get FASTA)   NCBI Sequence Viewer  
  AAB02605 (Get FASTA)   NCBI Sequence Viewer  
  AAH06499 (Get FASTA)   NCBI Sequence Viewer  
  AAH95471 (Get FASTA)   NCBI Sequence Viewer  
  AAK56963 (Get FASTA)   NCBI Sequence Viewer  
  AAM12630 (Get FASTA)   NCBI Sequence Viewer  
  AAV38228 (Get FASTA)   NCBI Sequence Viewer  
  ABI97389 (Get FASTA)   NCBI Sequence Viewer  
  AHW56507 (Get FASTA)   NCBI Sequence Viewer  
  AHW56508 (Get FASTA)   NCBI Sequence Viewer  
  BAG70150 (Get FASTA)   NCBI Sequence Viewer  
  BAG70299 (Get FASTA)   NCBI Sequence Viewer  
  CAA25624 (Get FASTA)   NCBI Sequence Viewer  
  CAA34461 (Get FASTA)   NCBI Sequence Viewer  
  CAD24594 (Get FASTA)   NCBI Sequence Viewer  
  CAG38816 (Get FASTA)   NCBI Sequence Viewer  
  CAG47067 (Get FASTA)   NCBI Sequence Viewer  
  CAN37622 (Get FASTA)   NCBI Sequence Viewer  
  CBV35641 (Get FASTA)   NCBI Sequence Viewer  
  CDL93477 (Get FASTA)   NCBI Sequence Viewer  
  EAX02337 (Get FASTA)   NCBI Sequence Viewer  
  EAX02338 (Get FASTA)   NCBI Sequence Viewer  
  EAX02339 (Get FASTA)   NCBI Sequence Viewer  
  EAX02340 (Get FASTA)   NCBI Sequence Viewer  
  EAX02341 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000309845
  ENSP00000309845.7
  ENSP00000380722.3
  ENSP00000380723.2
  ENSP00000388246
  ENSP00000388246.1
  ENSP00000407586
  ENSP00000407586.1
  ENSP00000434023.1
  ENSP00000480317.1
  ENSP00000480686.1
  ENSP00000482366.1
  ENSP00000488225.1
  ENSP00000488296.1
  ENSP00000488757.1
GenBank Protein P01112 (Get FASTA)   NCBI Sequence Viewer  
  UJY53507 (Get FASTA)   NCBI Sequence Viewer  
  UJY53508 (Get FASTA)   NCBI Sequence Viewer  
  UJY53509 (Get FASTA)   NCBI Sequence Viewer  
  UJY53510 (Get FASTA)   NCBI Sequence Viewer  
  UJY53511 (Get FASTA)   NCBI Sequence Viewer  
  UJY53512 (Get FASTA)   NCBI Sequence Viewer  
  UJY53513 (Get FASTA)   NCBI Sequence Viewer  
  UJY53514 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005334   ⟸   NM_005343
- Peptide Label: isoform 1
- UniProtKB: Q9BR65 (UniProtKB/Swiss-Prot),   Q6FHV9 (UniProtKB/Swiss-Prot),   Q14080 (UniProtKB/Swiss-Prot),   B5BUA0 (UniProtKB/Swiss-Prot),   Q9UCE2 (UniProtKB/Swiss-Prot),   P01112 (UniProtKB/Swiss-Prot),   X5D945 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123914   ⟸   NM_001130442
- Peptide Label: isoform 1
- UniProtKB: Q9BR65 (UniProtKB/Swiss-Prot),   Q6FHV9 (UniProtKB/Swiss-Prot),   Q14080 (UniProtKB/Swiss-Prot),   B5BUA0 (UniProtKB/Swiss-Prot),   Q9UCE2 (UniProtKB/Swiss-Prot),   P01112 (UniProtKB/Swiss-Prot),   X5D945 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_789765   ⟸   NM_176795
- Peptide Label: isoform 2
- UniProtKB: A0A804HJ06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304983   ⟸   NM_001318054
- Peptide Label: isoform 3
- UniProtKB: P01112 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000407586   ⟸   ENST00000451590
Ensembl Acc Id: ENSP00000434023   ⟸   ENST00000493230
Ensembl Acc Id: ENSP00000388246   ⟸   ENST00000417302
Ensembl Acc Id: ENSP00000309845   ⟸   ENST00000311189
Ensembl Acc Id: ENSP00000380723   ⟸   ENST00000397596
Ensembl Acc Id: ENSP00000380722   ⟸   ENST00000397594
RefSeq Acc Id: XP_054224585   ⟸   XM_054368610
- Peptide Label: isoform X1
- UniProtKB: Q9UCE2 (UniProtKB/Swiss-Prot),   Q9BR65 (UniProtKB/Swiss-Prot),   Q6FHV9 (UniProtKB/Swiss-Prot),   Q14080 (UniProtKB/Swiss-Prot),   P01112 (UniProtKB/Swiss-Prot),   B5BUA0 (UniProtKB/Swiss-Prot),   X5D945 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01112-F1-model_v2 AlphaFold P01112 1-189 view protein structure

Promoters
RGD ID:6788994
Promoter ID:HG_KWN:11830
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000397594,   OTTHUMT00000259399,   OTTHUMT00000259400,   OTTHUMT00000259401,   OTTHUMT00000259402,   OTTHUMT00000259404
Position:
Human AssemblyChrPosition (strand)Source
Build 3611523,776 - 525,047 (-)MPROMDB
RGD ID:6850264
Promoter ID:EP11149
Type:multiple initiation site
Name:HS_HRAS_3
Description:Cellular-Rat-derived Harvey murine sarcoma virus oncogene,HRAS1 or HRAS gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #3 of 3; 5' exon 1; site 3.; see alsoEP16063  EP16064  
Experiment Methods:Sequencing of a full-length cDNA; transfected or transformed; cells
Position:
Human AssemblyChrPosition (strand)Source
Build 3611525,434 - 525,494EPD
RGD ID:6788991
Promoter ID:HG_KWN:11831
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000388730,   ENST00000397596,   NM_001130442,   NM_005343,   NM_176795,   OTTHUMT00000254872
Position:
Human AssemblyChrPosition (strand)Source
Build 3611525,621 - 526,442 (-)MPROMDB
RGD ID:6850262
Promoter ID:EP16064
Type:single initiation site
Name:HS_HRAS_2
Description:Cellular-Rat-derived Harvey murine sarcoma virus oncogene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #2 of 3; 5' exon 1; site 2.; see alsoEP16063  EP11149  
Experiment Methods:Nuclease protection with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 3611525,621 - 525,681EPD
RGD ID:6850260
Promoter ID:EP16063
Type:single initiation site
Name:HS_HRAS_1
Description:Cellular-Rat-derived Harvey murine sarcoma virus oncogene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 3; 5' exon 1; site 1.; see alsoEP16064  EP11149  
Experiment Methods:Nuclease protection with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 3611525,694 - 525,754EPD
RGD ID:6788990
Promoter ID:HG_KWN:11832
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000254969,   OTTHUMT00000259397,   UC001LPW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611526,731 - 528,077 (-)MPROMDB
RGD ID:7219159
Promoter ID:EPDNEW_H15325
Type:initiation region
Name:HRAS_2
Description:HRas proto-oncogene, GTPase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15326  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811535,434 - 535,494EPDNEW
RGD ID:7219161
Promoter ID:EPDNEW_H15326
Type:initiation region
Name:HRAS_1
Description:HRas proto-oncogene, GTPase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15325  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811535,566 - 535,626EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5173 AgrOrtholog
COSMIC HRAS COSMIC
Ensembl Genes ENSG00000174775 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000276536 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000311189 ENTREZGENE
  ENST00000311189.8 UniProtKB/Swiss-Prot
  ENST00000397594.7 UniProtKB/Swiss-Prot
  ENST00000397596.6 UniProtKB/Swiss-Prot
  ENST00000417302 ENTREZGENE
  ENST00000417302.7 UniProtKB/Swiss-Prot
  ENST00000451590 ENTREZGENE
  ENST00000451590.5 UniProtKB/Swiss-Prot
  ENST00000493230.5 UniProtKB/Swiss-Prot
  ENST00000610977.3 UniProtKB/Swiss-Prot
  ENST00000615062.2 UniProtKB/Swiss-Prot
  ENST00000616241.4 UniProtKB/Swiss-Prot
  ENST00000631404.1 UniProtKB/Swiss-Prot
  ENST00000631967.1 UniProtKB/Swiss-Prot
  ENST00000634098.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot
GTEx ENSG00000174775 GTEx
  ENSG00000276536 GTEx
HGNC ID HGNC:5173 ENTREZGENE
Human Proteome Map HRAS Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot
  Small_GTP-bd_dom UniProtKB/Swiss-Prot
  Small_GTPase UniProtKB/Swiss-Prot
  Small_GTPase_Ras-type UniProtKB/Swiss-Prot
KEGG Report hsa:3265 UniProtKB/Swiss-Prot
NCBI Gene 3265 ENTREZGENE
OMIM 190020 OMIM
PANTHER PTHR24070 UniProtKB/Swiss-Prot
Pfam Ras UniProtKB/Swiss-Prot
PharmGKB HRAS RGD, PharmGKB
PRINTS RASTRNSFRMNG UniProtKB/Swiss-Prot
PROSITE RAS UniProtKB/Swiss-Prot
RNAcentral URS00008C3041 RNACentral
  URS00009C4533 RNACentral
  URS0000E99A75 RNACentral
  URS0002617F48 RNACentral
SMART RAB UniProtKB/Swiss-Prot
  RAS UniProtKB/Swiss-Prot
  RHO UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
UniProt A0A0J9YXG8_HUMAN UniProtKB/TrEMBL
  A0A804HJ06 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HKM6_HUMAN UniProtKB/TrEMBL
  A0A8C8MQR2_HUMAN UniProtKB/TrEMBL
  B5BUA0 ENTREZGENE
  P01112 ENTREZGENE
  P78460_HUMAN UniProtKB/TrEMBL
  Q14080 ENTREZGENE
  Q6FHV9 ENTREZGENE
  Q9BR65 ENTREZGENE
  Q9UCE2 ENTREZGENE
  RASH_HUMAN UniProtKB/Swiss-Prot
  X5D945 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B5BUA0 UniProtKB/Swiss-Prot
  Q14080 UniProtKB/Swiss-Prot
  Q6FHV9 UniProtKB/Swiss-Prot
  Q9BR65 UniProtKB/Swiss-Prot
  Q9UCE2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 HRAS  HRas proto-oncogene, GTPase  HRAS  Harvey rat sarcoma viral oncogene homolog  Symbol and/or name change 5135510 APPROVED
2013-07-16 HRAS  Harvey rat sarcoma viral oncogene homolog  HRAS  v-Ha-ras Harvey rat sarcoma viral oncogene homolog  Symbol and/or name change 5135510 APPROVED