BRAF (B-Raf proto-oncogene, serine/threonine kinase) - Rat Genome Database

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Gene: BRAF (B-Raf proto-oncogene, serine/threonine kinase) Homo sapiens
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Symbol: BRAF
Name: B-Raf proto-oncogene, serine/threonine kinase
RGD ID: 735645
HGNC Page HGNC:1097
Description: Enables several functions, including identical protein binding activity; protein kinase activity; and scaffold protein binding activity. Involved in several processes, including positive regulation of ERK1 and ERK2 cascade; positive regulation of glucose transmembrane transport; and positive regulation of macromolecule metabolic process. Located in cytosol and intracellular membrane-bounded organelle. Implicated in several diseases, including Noonan syndrome 7; carcinoma (multiple); cardiofaciocutaneous syndrome (multiple); central nervous system benign neoplasm (multiple); and melanoma (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 94 kDa B-raf protein; B-raf; B-Raf proto-oncogene serine/threonine-protein kinase (p94); B-Raf serine/threonine-protein; B-RAF1; BRAF-1; BRAF1; FLJ95109; MGC126806; MGC138284; murine sarcoma viral (v-raf) oncogene homolog B1; NS7; p94; proto-oncogene B-Raf; RAFB1; serine/threonine-protein kinase B-raf; v-raf murine sarcoma viral oncogene homolog B; v-raf murine sarcoma viral oncogene homolog B1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: BRAFP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387140,713,328 - 140,924,929 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7140,719,327 - 140,924,929 (-)EnsemblGRCh38hg38GRCh38
GRCh377140,413,128 - 140,624,729 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367140,080,751 - 140,271,033 (-)NCBINCBI36Build 36hg18NCBI36
Build 347139,887,462 - 140,077,748NCBI
Celera7135,155,867 - 135,346,614 (-)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7134,729,459 - 134,920,529 (-)NCBIHuRef
CHM1_17140,368,045 - 140,559,148 (-)NCBICHM1_1
T2T-CHM13v2.07142,027,505 - 142,239,131 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27139,771,989 - 139,962,886 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
adrenocortical carcinoma  (EXP,IAGP)
ameloblastoma  (EXP)
Aortic Aneurysm, Giant Congenital  (IAGP)
arteriovenous malformations of the brain  (IAGP)
ataxia telangiectasia  (IAGP)
B-Cell Chronic Lymphocytic Leukemia  (IAGP)
bile duct adenoma  (IAGP)
Brain Neoplasms  (IAGP)
Breast Neoplasms  (IAGP)
cancer  (IAGP)
Carcinogenesis  (EXP)
cardiofaciocutaneous syndrome  (EXP,IAGP,ISO,ISS)
cardiofaciocutaneous syndrome 1  (IAGP)
cardiomyopathy  (IAGP)
cholangiocarcinoma  (IAGP)
chronic lymphocytic leukemia  (IAGP)
chronic myelogenous leukemia, BCR-ABL1 positive  (IAGP)
chronic myeloid leukemia  (IAGP)
colon carcinoma  (IAGP,IMP)
Colonic Neoplasms  (IAGP)
colorectal adenocarcinoma  (IAGP)
colorectal cancer  (IAGP)
Colorectal Neoplasms  (EXP,IAGP)
Costello syndrome  (EXP,IAGP)
craniopharyngioma  (EXP)
Dandy-Walker syndrome  (IAGP)
Developmental Disabilities  (IAGP)
diffuse large B-cell lymphoma  (IAGP)
dilated cardiomyopathy  (IAGP)
disease of cellular proliferation  (IAGP)
dysembryoplastic neuroepithelial tumor  (IAGP)
dysplastic nevus syndrome  (IAGP)
endometrial carcinoma  (IAGP)
Experimental Melanoma  (EXP)
Experimental Neoplasms  (EXP)
familial melanoma  (IAGP)
Follicular Thyroid Cancer  (IAGP)
gallbladder cancer  (IAGP)
ganglioglioma  (IAGP)
gastric adenocarcinoma  (IAGP)
gastrointestinal stromal tumor  (IAGP)
genetic disease  (IAGP)
germinoma  (IAGP)
glioblastoma  (IAGP)
head and neck squamous cell carcinoma  (IAGP)
hepatocellular carcinoma  (EXP)
high grade glioma  (EXP,IAGP)
hypertrophic cardiomyopathy  (IAGP)
hypertrophic cardiomyopathy 4  (IAGP)
intellectual disability  (IAGP)
intrahepatic cholangiocarcinoma  (IAGP)
Kidney Neoplasms  (EXP)
Langerhans-cell histiocytosis  (ISS)
Liver Metastasis  (IAGP)
Liver Neoplasms  (EXP)
lung adenocarcinoma  (EXP,IAGP)
lung cancer  (IAGP)
lung carcinoma  (IAGP)
Lung Neoplasms  (EXP)
lung non-small cell carcinoma  (IAGP,TAS)
lung squamous cell carcinoma  (IAGP)
lymphangioma  (IAGP)
Lymphatic Metastasis  (EXP)
malignant astrocytoma  (EXP,IAGP)
Mandibular Neoplasms  (EXP)
melanoma  (EXP,IAGP,IDA,IMP,ISS)
Microsatellite Instability  (EXP)
multiple myeloma  (IAGP)
myoepithelioma  (IAGP)
Neoplasm Metastasis  (IAGP)
nephroblastoma  (IAGP)
neuroendocrine tumor  (EXP)
Nevus  (IAGP)
newborn respiratory distress syndrome  (IAGP)
non-Hodgkin lymphoma  (IAGP)
Nonseminomatous Germ Cell Tumor  (IAGP)
Noonan syndrome  (EXP,IAGP)
Noonan syndrome 1  (IAGP)
Noonan syndrome 7  (EXP,IAGP)
Noonan syndrome with multiple lentigines  (IAGP)
Noonan syndrome with multiple lentigines 3  (EXP,IAGP)
Ovarian Neoplasms  (IAGP)
ovarian serous cystadenocarcinoma  (IAGP)
pancreatic acinar cell adenocarcinoma  (IAGP)
pancreatic cancer  (IMP,ISO)
papillary renal cell carcinoma  (IAGP)
Paraproteinemias  (IAGP)
PHACE Association  (IAGP)
plasma cell neoplasm  (IAGP)
pleomorphic xanthoastrocytoma  (IAGP)
Premature Birth  (IAGP)
primary cutaneous T-cell non-Hodgkin lymphoma  (EXP)
prostate adenocarcinoma  (IAGP,IMP)
Prostate Cancer, Hereditary, 1  (IAGP)
Prostatic Neoplasms  (EXP)
pulmonary valve stenosis  (IAGP)
RASopathy  (IAGP)
Sezary's disease  (EXP)
skin melanoma  (IAGP)
Sporadic Papillary Renal Cell Carcinoma  (IAGP)
tethered spinal cord syndrome  (IAGP)
thyroid gland papillary carcinoma  (EXP,IAGP,ISO,ISS)
Thyroid Neoplasms  (EXP,IAGP,IMP)
transitional cell carcinoma  (IAGP)
type 2 diabetes mellitus  (EXP)
uterine cancer  (IAGP)
Vascular Malformations  (IAGP)
ventricular septal defect  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-dinitrotoluene  (ISO)
3',5'-cyclic AMP  (EXP,ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxynon-2-enal  (EXP)
4-vinylcyclohexene dioxide  (ISO)
ABT-737  (EXP)
afimoxifene  (EXP)
all-trans-retinoic acid  (EXP)
allyl isothiocyanate  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP,ISO)
benzo[a]pyrene  (EXP)
betulin  (EXP)
Biflorin  (EXP)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
caffeine  (EXP)
cannabidiol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP,ISO)
cobimetinib  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
coumarin  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
cypermethrin  (ISO)
dabrafenib  (EXP)
diarsenic trioxide  (EXP,ISO)
diclofenac  (EXP)
Dictamnine  (EXP)
dioxygen  (EXP)
disodium selenite  (EXP)
endosulfan  (ISO)
erlotinib hydrochloride  (EXP)
ethanol  (ISO)
famotidine  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
gemcitabine  (EXP)
gentamycin  (ISO)
hexadecanoic acid  (EXP)
hydrogen cyanide  (ISO)
icariside II  (EXP)
isotretinoin  (EXP)
ketamine  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (ISO)
lycopene  (EXP)
maneb  (ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
methamphetamine  (ISO)
methyl methanesulfonate  (EXP)
miconazole  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
niclosamide  (EXP)
nicotine  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
Pentoxifylline  (ISO)
phenobarbital  (EXP,ISO)
Pirarubicin  (ISO)
pirinixic acid  (EXP)
ponatinib  (EXP)
potassium cyanide  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
resveratrol  (EXP,ISO)
rimonabant  (ISO)
rutin  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sorafenib  (EXP,ISO)
succimer  (ISO)
tamoxifen  (ISO)
tanespimycin  (EXP,ISO)
tert-butyl hydroperoxide  (EXP)
theophylline  (ISO)
trametinib  (EXP)
trichostatin A  (EXP)
troglitazone  (ISO)
tungsten  (ISO)
valproic acid  (EXP)
vanadium atom  (EXP)
vanadium(0)  (EXP)
vemurafenib  (EXP,ISO)
vorinostat  (EXP)
zearalenone  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
alpha-beta T cell differentiation  (IEA,ISO)
animal organ morphogenesis  (TAS)
CD4-positive or CD8-positive, alpha-beta T cell lineage commitment  (IEA,ISO)
CD4-positive, alpha-beta T cell differentiation  (IEA,ISO)
cell differentiation  (IEA,ISO)
cellular response to calcium ion  (IDA)
cellular response to nerve growth factor stimulus  (IEA,ISO)
cellular response to xenobiotic stimulus  (IEA,ISO)
endothelial cell apoptotic process  (IEA,ISO)
epidermal growth factor receptor signaling pathway  (IDA)
ERK1 and ERK2 cascade  (IEA,ISO)
establishment of protein localization to membrane  (IDA)
face development  (IEA,ISO)
head morphogenesis  (IEA,ISO)
long-term synaptic potentiation  (IEA,ISO)
MAPK cascade  (IBA,IDA)
myeloid progenitor cell differentiation  (IEA,ISO)
negative regulation of apoptotic process  (IDA,IEA,TAS)
negative regulation of endothelial cell apoptotic process  (IEA,ISO)
negative regulation of fibroblast migration  (IEA,ISO)
negative regulation of neuron apoptotic process  (IEA,ISO)
negative regulation of synaptic vesicle exocytosis  (IEA,ISO)
positive regulation of axon regeneration  (IEA,ISO)
positive regulation of axonogenesis  (IEA,ISO)
positive regulation of ERK1 and ERK2 cascade  (IDA,IEA,ISO)
positive regulation of gene expression  (IEA,IMP,ISO)
positive regulation of glucose transmembrane transport  (IDA)
positive regulation of peptidyl-serine phosphorylation  (IDA)
positive regulation of protein phosphorylation  (IEA)
positive regulation of stress fiber assembly  (IEA,ISO)
positive regulation of substrate adhesion-dependent cell spreading  (IEA,ISO)
positive T cell selection  (IEA,ISO)
postsynaptic modulation of chemical synaptic transmission  (ISO)
protein modification process  (IEA)
protein phosphorylation  (ISO)
regulation of axon regeneration  (IEA,ISO)
regulation of cell population proliferation  (IEA,ISO)
regulation of intracellular signal transduction  (IEA)
regulation of T cell differentiation  (IEA,ISO)
response to cAMP  (IEA,ISO)
response to peptide hormone  (IEA,ISO)
signal transduction  (IEA)
somatic stem cell population maintenance  (IEA,ISO)
stress fiber assembly  (IEA,ISO)
substrate adhesion-dependent cell spreading  (IEA,ISO)
synaptic vesicle exocytosis  (IEA,ISO)
T cell differentiation in thymus  (IEA,ISO)
T cell receptor signaling pathway  (IEA,ISO)
thymus development  (IEA,ISO)
thyroid gland development  (IEA,ISO)
visual learning  (IEA,ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal obesity  (IAGP)
Abnormal aortic valve morphology  (IAGP)
Abnormal bleeding  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal endocardium morphology  (IAGP)
Abnormal epidermal morphology  (IAGP)
Abnormal esophagus morphology  (IAGP)
Abnormal eyelash morphology  (IAGP)
Abnormal facial skeleton morphology  (IAGP)
Abnormal frontal bone morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal heart valve morphology  (IAGP)
Abnormal hypothalamus morphology  (IAGP)
Abnormal libido  (IAGP)
Abnormal localization of kidney  (IAGP)
Abnormal lymph node morphology  (IAGP)
Abnormal mitral valve morphology  (IAGP)
Abnormal morphology of ulna  (IAGP)
Abnormal nasal bone morphology  (IAGP)
Abnormal pancreas morphology  (IAGP)
Abnormal pulmonary valve morphology  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormal visual field test  (IAGP)
Abnormality of mental function  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of the cardiovascular system  (IAGP)
Abnormality of the chin  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the face  (IAGP)
Abnormality of the gastrointestinal tract  (IAGP)
Abnormality of the genital system  (IAGP)
Abnormality of the pulmonary artery  (IAGP)
Abnormality of the respiratory system  (IAGP)
Abnormality of the voice  (IAGP)
Abnormality of vision  (IAGP)
Absent eyebrow  (IAGP)
Absent eyelashes  (IAGP)
Acne  (IAGP)
Adrenal hyperplasia  (IAGP)
Adrenocortical carcinoma  (IAGP)
Alveolar cell carcinoma  (IAGP)
Amegakaryocytic thrombocytopenia  (IAGP)
Amenorrhea  (IAGP)
Anterior creases of earlobe  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the abdominal wall musculature  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Aplasia/Hypoplasia of the eyebrow  (IAGP)
Arrhythmia  (IAGP)
Arteriovenous malformation  (IAGP)
Atopic dermatitis  (IAGP)
Atrial septal defect  (IAGP)
Atrioventricular canal defect  (IAGP)
Atypical behavior  (IAGP)
Atypical nevi in non-sun exposed areas  (IAGP)
Atypical nevus  (IAGP)
Autosomal dominant inheritance  (IAGP)
Avascular necrosis  (IAGP)
Biparietal narrowing  (IAGP)
Bitemporal hemianopia  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Brain neoplasm  (IAGP)
Brainstem glioma  (IAGP)
Brittle hair  (IAGP)
Broad forehead  (IAGP)
Bruising susceptibility  (IAGP)
Bulbous nose  (IAGP)
Bundle branch block  (IAGP)
Cafe-au-lait spot  (IAGP)
Capillary fragility  (IAGP)
Cardiomyopathy  (IAGP)
Cavernous hemangioma  (IAGP)
Central adrenal insufficiency  (IAGP)
Central diabetes insipidus  (IAGP)
Cerebral arteriovenous malformation  (IAGP)
Cerebral calcification  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral ischemia  (IAGP)
Cerebral visual impairment  (IAGP)
Cholangiocarcinoma  (IAGP)
Chronic lymphatic leukemia  (IAGP)
Chronic myelogenous leukemia  (IAGP)
Chylothorax  (IAGP)
Cleft palate  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarctation of aorta  (IAGP)
Coarse facial features  (IAGP)
Cognitive impairment  (IAGP)
Colon cancer  (IAGP)
Coma  (IAGP)
Congenital giant melanocytic nevus  (IAGP)
Congenital onset  (IAGP)
Constipation  (IAGP)
Cryptorchidism  (IAGP)
Cubitus valgus  (IAGP)
Curly hair  (IAGP)
Cutaneous melanoma  (IAGP)
Cystic hygroma  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased eosinophil count  (IAGP)
Decreased fertility  (IAGP)
Deep palmar crease  (IAGP)
Deep philtrum  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Dementia  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Depression  (IAGP)
Diabetes mellitus  (IAGP)
Dolichocephaly  (IAGP)
Dorsocervical fat pad  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dry skin  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dystrophic fingernails  (IAGP)
Ecchymosis  (IAGP)
EEG abnormality  (IAGP)
Emotional lability  (IAGP)
Endometrial carcinoma  (IAGP)
Enlarged pituitary gland  (IAGP)
Epicanthus  (IAGP)
Epidermal hyperkeratosis  (IAGP)
Excessive daytime somnolence  (IAGP)
Excessive wrinkled skin  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Fatiguable weakness of proximal limb muscles  (IAGP)
Feeding difficulties in infancy  (IAGP)
Few cafe-au-lait spots  (IAGP)
Fine hair  (IAGP)
Flushing  (IAGP)
Freckling  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Functional abnormality of the gastrointestinal tract  (IAGP)
Gastric adenocarcinoma  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hirsutism  (IAGP)
Generalized hyperpigmentation  (IAGP)
Generalized hypotonia  (IAGP)
Genu valgum  (IAGP)
Glioblastoma multiforme  (IAGP)
Global developmental delay  (IAGP)
Growth abnormality  (IAGP)
Growth delay  (IAGP)
Headache  (IAGP)
Hearing impairment  (IAGP)
Hereditary nonpolyposis colorectal carcinoma  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hirsutism  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hyperextensibility of the finger joints  (IAGP)
Hyperextensible skin  (IAGP)
Hyperhidrosis  (IAGP)
Hyperkeratosis  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertonia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypogonadism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypopituitarism  (IAGP)
Hypoplasia of the frontal lobes  (IAGP)
Hypoplasia of the zygomatic bone  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Immunodeficiency  (IAGP)
Impaired glucose tolerance  (IAGP)
Impaired oropharyngeal swallow response  (IAGP)
Increased body weight  (IAGP)
Increased circulating ACTH level  (IAGP)
Increased circulating cortisol level  (IAGP)
Increased circulating prolactin concentration  (IAGP)
Increased intracranial pressure  (IAGP)
Increased susceptibility to fractures  (IAGP)
Increased urinary cortisol level  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intra-oral hyperpigmentation  (IAGP)
Intracranial cystic lesion  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint hypermobility  (IAGP)
Juvenile myelomonocytic leukemia  (IAGP)
Keratosis pilaris  (IAGP)
Kyphoscoliosis  (IAGP)
Large earlobe  (IAGP)
Large for gestational age  (IAGP)
Large sella turcica  (IAGP)
Lentigo maligna melanoma  (IAGP)
Leukocytosis  (IAGP)
Long face  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Lung adenocarcinoma  (IAGP)
Lymphangioma  (IAGP)
Lymphedema  (IAGP)
Lymphopenia  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Male infertility  (IAGP)
Melanocytic nevus  (IAGP)
Melanoma  (IAGP)
Memory impairment  (IAGP)
Micrognathia  (IAGP)
Mitral valve prolapse  (IAGP)
Moon facies  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Multiple lentigines  (IAGP)
Multiple myeloma  (IAGP)
Multiple plantar creases  (IAGP)
Muscle weakness  (IAGP)
Myelodysplasia  (IAGP)
Myocardial infarction  (IAGP)
Myopia  (IAGP)
Narrow forehead  (IAGP)
Nasogastric tube feeding in infancy  (IAGP)
Nausea and vomiting  (IAGP)
Neonatal hypotonia  (IAGP)
Neonatal onset  (IAGP)
Neonatal respiratory distress  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the anterior pituitary  (IAGP)
Neoplasm of the breast  (IAGP)
Neoplasm of the colon  (IAGP)
Neoplasm of the large intestine  (IAGP)
Neoplasm of the lung  (IAGP)
Neoplasm of the skin  (IAGP)
Neoplasm of the stomach  (IAGP)
Neoplasm of the thyroid gland  (IAGP)
Nephroblastoma  (IAGP)
Neuroblastoma  (IAGP)
Neurodevelopmental delay  (IAGP)
Neurofibrosarcoma  (IAGP)
Nevus  (IAGP)
Nevus sebaceous  (IAGP)
Non-Hodgkin lymphoma  (IAGP)
Non-small cell lung carcinoma  (IAGP)
Numerous nevi  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Oculomotor apraxia  (IAGP)
Oligomenorrhea  (IAGP)
Open bite  (IAGP)
Open mouth  (IAGP)
Optic atrophy  (IAGP)
Optic nerve compression  (IAGP)
Optic nerve dysplasia  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Ovarian neoplasm  (IAGP)
Palmoplantar keratoderma  (IAGP)
Palpebral thickening  (IAGP)
Panic attack  (IAGP)
Papillary thyroid carcinoma  (IAGP)
Papilledema  (IAGP)
Papule  (IAGP)
Paradoxical increased cortisol secretion on dexamethasone suppression test  (IAGP)
Paranoia  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Pectus excavatum of inferior sternum  (IAGP)
Pedal edema  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Pituitary corticotropic cell adenoma  (IAGP)
Pituitary hypothyroidism  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Plethora  (IAGP)
Polyhydramnios  (IAGP)
Polyphagia  (IAGP)
Poor suck  (IAGP)
Poor wound healing  (IAGP)
Posteriorly rotated ears  (IAGP)
Postnatal growth retardation  (IAGP)
Premature birth  (IAGP)
Progressive visual field defects  (IAGP)
Progressive visual loss  (IAGP)
Prominent forehead  (IAGP)
Proportionate short stature  (IAGP)
Proptosis  (IAGP)
Proximal amyotrophy  (IAGP)
Pruritus  (IAGP)
Psychosis  (IAGP)
Psychotic episodes  (IAGP)
Ptosis  (IAGP)
Pulmonic stenosis  (IAGP)
Purpura  (IAGP)
Radial deviation of finger  (IAGP)
Recurrent cutaneous fungal infections  (IAGP)
Recurrent infections  (IAGP)
Reduced factor XII activity  (IAGP)
Reduced factor XIII activity  (IAGP)
Redundant skin  (IAGP)
Relative macrocephaly  (IAGP)
Renal cell carcinoma  (IAGP)
Rhabdomyosarcoma  (IAGP)
Sarcoma  (IAGP)
Scapular winging  (IAGP)
Scoliosis  (IAGP)
Secondary amenorrhea  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe sensorineural hearing impairment  (IAGP)
Shield chest  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Skin ulcer  (IAGP)
Sleep abnormality  (IAGP)
Sleep apnea  (IAGP)
Slow decrease in visual acuity  (IAGP)
Slow-growing hair  (IAGP)
Sparse hair  (IAGP)
Sparse or absent eyelashes  (IAGP)
Sparse scalp hair  (IAGP)
Spina bifida occulta  (IAGP)
Splenomegaly  (IAGP)
Sprengel anomaly  (IAGP)
Squamous cell carcinoma of the skin  (IAGP)
Squamous cell lung carcinoma  (IAGP)
Strabismus  (IAGP)
Striae distensae  (IAGP)
Stroke  (IAGP)
Subcutaneous nodule  (IAGP)
Submucous cleft hard palate  (IAGP)
Sudden loss of visual acuity  (IAGP)
Suicidal ideation  (IAGP)
Superior pectus carinatum  (IAGP)
Synovitis  (IAGP)
Tethered cord  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick vermilion border  (IAGP)
Thickened helices  (IAGP)
Thin skin  (IAGP)
Tongue thrusting  (IAGP)
Transitional cell carcinoma of the bladder  (IAGP)
Triangular face  (IAGP)
Truncal obesity  (IAGP)
Type II diabetes mellitus  (IAGP)
Typified by somatic mosaicism  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Uterine leiomyosarcoma  (IAGP)
Uveal melanoma  (IAGP)
Vascular dilatation  (IAGP)
Ventricular hypertrophy  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral compression fracture  (IAGP)
Vertigo  (IAGP)
Visual field defect  (IAGP)
Vomiting  (IAGP)
Webbed neck  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal bridge  (IAGP)
Woolly hair  (IAGP)
References

References - curated
# Reference Title Reference Citation
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2. KRAS(G12D)- and BRAF(V600E)-induced transformation of murine pancreatic epithelial cells requires MEK/ERK-stimulated IGF1R signaling. Appleman VA, etal., Mol Cancer Res. 2012 Sep;10(9):1228-39. doi: 10.1158/1541-7786.MCR-12-0340-T. Epub 2012 Aug 7.
3. Comprehensive genomic profiling of pancreatic acinar cell carcinomas identifies recurrent RAF fusions and frequent inactivation of DNA repair genes. Chmielecki J, etal., Cancer Discov. 2014 Dec;4(12):1398-405. doi: 10.1158/2159-8290.CD-14-0617. Epub 2014 Sep 29.
4. A central role for RAF¿MEK¿ERK signaling in the genesis of pancreatic ductal adenocarcinoma. Collisson EA, etal., Cancer Discov. 2012 Aug;2(8):685-93. doi: 10.1158/2159-8290.CD-11-0347. Epub 2012 May 24.
5. Clonal architectures and driver mutations in metastatic melanomas. Ding L, etal., PLoS One. 2014 Nov 13;9(11):e111153. doi: 10.1371/journal.pone.0111153. eCollection 2014.
6. Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy. Estep AL, etal., PLoS ONE. 2007 Dec 5;2(12):e1279.
7. BRAF mutation in endometrial carcinoma and hyperplasia: correlation with KRAS and p53 mutations and mismatch repair protein expression. Feng YZ, etal., Clin Cancer Res. 2005 Sep 1;11(17):6133-8.
8. Mutation location on the RAS oncogene affects pathologic features and survival after resection of colorectal liver metastases. Frankel TL, etal., Cancer. 2017 Feb 15;123(4):568-575. doi: 10.1002/cncr.30351. Epub 2016 Oct 13.
9. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
10. Oncogenic BRAF is required for tumor growth and maintenance in melanoma models. Hoeflich KP, etal., Cancer Res. 2006 Jan 15;66(2):999-1006.
11. Microsatellite instability, mismatch repair deficiency, and BRAF mutation in treatment-resistant germ cell tumors. Honecker F, etal., J Clin Oncol. 2009 May 1;27(13):2129-36. Epub 2009 Mar 16.
12. New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome. Inoue S, etal., Hum Mol Genet. 2014 Dec 15;23(24):6553-66. doi: 10.1093/hmg/ddu376. Epub 2014 Jul 17.
13. CEP-32496: a novel orally active BRAF(V600E) inhibitor with selective cellular and in vivo antitumor activity. James J, etal., Mol Cancer Ther. 2012 Apr;11(4):930-41. doi: 10.1158/1535-7163.MCT-11-0645. Epub 2012 Feb 7.
14. BRAF activation initiates but does not maintain invasive prostate adenocarcinoma. Jeong JH, etal., PLoS One. 2008;3(12):e3949. Epub 2008 Dec 16.
15. An Animal Model Further Uncovers the Role of Mutant BrafV600E during Papillary Thyroid Cancer Development. Koelsch B, etal., Am J Pathol. 2020 Mar;190(3):702-710. doi: 10.1016/j.ajpath.2019.11.006. Epub 2020 Jan 14.
16. BRAF V600E mutations are frequent in dysembryoplastic neuroepithelial tumors and subependymal giant cell astrocytomas. Lee D, etal., J Surg Oncol. 2015 Mar;111(3):359-64. doi: 10.1002/jso.23822. Epub 2014 Oct 24.
17. Roles of the Raf/MEK/ERK pathway in cell growth, malignant transformation and drug resistance. McCubrey JA, etal., Biochim Biophys Acta. 2007 Aug;1773(8):1263-84. Epub 2006 Oct 7.
18. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Niihori T, etal., Nat Genet. 2006 Mar;38(3):294-6. Epub 2006 Feb 12.
19. Targeting BRAFV600E with PLX4720 displays potent antimigratory and anti-invasive activity in preclinical models of human thyroid cancer. Nucera C, etal., Oncologist. 2011;16(3):296-309. doi: 10.1634/theoncologist.2010-0317. Epub 2011 Feb 25.
20. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
21. The T1796A mutation of the BRAF gene is absent in Spitz nevi. Palmedo G, etal., J Cutan Pathol. 2004 Mar;31(3):266-70.
22. New driver mutations in non-small-cell lung cancer. Pao W and Girard N, Lancet Oncol. 2011 Feb;12(2):175-80.
23. Can KRAS and BRAF mutations limit the benefit of liver resection in metastatic colorectal cancer patients? A systematic review and meta-analysis. Passiglia F, etal., Crit Rev Oncol Hematol. 2016 Mar;99:150-7. doi: 10.1016/j.critrevonc.2015.12.015. Epub 2016 Jan 2.
24. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
25. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
26. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
27. Prognostic and predictive values of oncogenic BRAF, NRAS, c-KIT and MITF in cutaneous and mucous melanoma. Pracht M, etal., J Eur Acad Dermatol Venereol. 2015 Aug;29(8):1530-8. doi: 10.1111/jdv.12910. Epub 2015 Jan 26.
28. BRAF provides proliferation and survival signals in MSI colorectal carcinoma cells displaying BRAF(V600E) but not KRAS mutations. Preto A, et al., J Pathol. 2008 Feb;214(3):320-7.
29. BRAF V600E mutational status in bile duct adenomas and hamartomas. Pujals A, etal., Histopathology. 2015 Oct;67(4):562-7. doi: 10.1111/his.12674. Epub 2015 Mar 31.
30. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
31. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
32. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
33. The frequency of KRAS and BRAF mutations in intrahepatic cholangiocarcinomas and their correlation with clinical outcome. Robertson S, etal., Hum Pathol. 2013 Dec;44(12):2768-73. doi: 10.1016/j.humpath.2013.07.026. Epub 2013 Oct 15.
34. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Rodriguez-Viciana P, etal., Science. 2006 Mar 3;311(5765):1287-90. Epub 2006 Jan 26.
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. Regulation and role of Raf-1/B-Raf heterodimerization. Rushworth LK, etal., Mol Cell Biol. 2006 Mar;26(6):2262-72.
37. Mutational analysis and clinical correlation of metastatic colorectal cancer. Russo AL, etal., Cancer. 2014 May 15;120(10):1482-90. doi: 10.1002/cncr.28599. Epub 2014 Feb 5.
38. BRAF mutations are also associated with neurocutaneous melanocytosis and large/giant congenital melanocytic nevi. Salgado CM, etal., Pediatr Dev Pathol. 2015 Jan-Feb;18(1):1-9. doi: 10.2350/14-10-1566-OA.1. Epub 2014 Dec 9.
39. Somatic mutations of signaling genes in non-small-cell lung cancer. Sanders HR and Albitar M, Cancer Genet Cytogenet. 2010 Nov;203(1):7-15.
40. Growth factor-induced MAPK network topology shapes Erk response determining PC-12 cell fate. Santos SD, etal., Nat Cell Biol. 2007 Mar;9(3):324-30. Epub 2007 Feb 18.
41. B-Raf is required for ERK activation and tumor progression in a mouse model of pancreatic beta-cell carcinogenesis. Sobczak I, etal., Oncogene. 2008 Aug 14;27(35):4779-87. doi: 10.1038/onc.2008.128. Epub 2008 May 19.
42. Mutations of the BRAF gene in cholangiocarcinoma but not in hepatocellular carcinoma. Tannapfel A, etal., Gut. 2003 May;52(5):706-12.
43. BRAF mutation is a prognostic biomarker for colorectal liver metastasectomy. Teng HW, etal., J Surg Oncol. 2012 Aug 1;106(2):123-9. doi: 10.1002/jso.23063. Epub 2012 Feb 13.
44. In papillary thyroid carcinoma BRAFV600E is associated with increased expression of the urokinase plasminogen activator and its cognate receptor, but not with disease-free interval. Ulisse S, etal., Clin Endocrinol (Oxf). 2012 Nov;77(5):780-6. doi: 10.1111/j.1365-2265.2012.04465.x.
45. Poor prognosis of KRAS or BRAF mutant colorectal liver metastasis without microsatellite instability. Umeda Y, etal., J Hepatobiliary Pancreat Sci. 2013 Feb;20(2):223-33. doi: 10.1007/s00534-012-0531-9.
46. Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome. Urosevic J, etal., Proc Natl Acad Sci U S A. 2011 Mar 22;108(12):5015-20. doi: 10.1073/pnas.1016933108. Epub 2011 Mar 7.
47. v-Raf murine sarcoma viral oncogene mutation status in serous borderline ovarian tumors and the effect on clinical behavior. Verbruggen MB, etal., Int J Gynecol Cancer. 2009 Dec;19(9):1560-3.
48. Alterations of BRAF and HIPK2 loci predominate in sporadic pilocytic astrocytoma. Yu J, etal., Neurology. 2009 Nov 10;73(19):1526-31. doi: 10.1212/WNL.0b013e3181c0664a. Epub 2009 Sep 30.
Additional References at PubMed
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PMID:35344507   PMID:35353428   PMID:35359040   PMID:35362874   PMID:35383113   PMID:35435290   PMID:35468886   PMID:35501518   PMID:35544941   PMID:35567913   PMID:35585049   PMID:35642329  
PMID:35673816   PMID:35680020   PMID:35724767   PMID:35784548   PMID:35805902   PMID:35856752   PMID:35863783   PMID:35879379   PMID:35907983   PMID:35916021   PMID:35951455   PMID:35961969  
PMID:35979667   PMID:35994225   PMID:35996515   PMID:36038253   PMID:36039514   PMID:36064728   PMID:36100125   PMID:36116035   PMID:36122630   PMID:36156323   PMID:36177801   PMID:36244648  
PMID:36275468   PMID:36317675   PMID:36331719   PMID:36347258   PMID:36356284   PMID:36372672   PMID:36407316   PMID:36438490   PMID:36446115   PMID:36450250   PMID:36453261   PMID:36503484  
PMID:36504219   PMID:36519916   PMID:36520196   PMID:36531074   PMID:36539575   PMID:36555268   PMID:36579983   PMID:36585710   PMID:36589808   PMID:36591710   PMID:36604958   PMID:36632022  
PMID:36709221   PMID:36733110   PMID:36736316   PMID:36758042   PMID:36768289   PMID:36867406   PMID:36878307   PMID:36890675   PMID:36931259   PMID:36975409   PMID:36975440   PMID:36976740  
PMID:36990254   PMID:37045720   PMID:37045861   PMID:37088911   PMID:37144982   PMID:37147869   PMID:37156689   PMID:37212518   PMID:37220176   PMID:37226844   PMID:37268805   PMID:37293958  
PMID:37352389   PMID:37357851   PMID:37364158   PMID:37437144   PMID:37477913   PMID:37505499   PMID:37511580   PMID:37519275   PMID:37526097   PMID:37530550   PMID:37540271   PMID:37543207  
PMID:37565534   PMID:37583001   PMID:37595284   PMID:37628868   PMID:37634281   PMID:37673974   PMID:37675898   PMID:37740653   PMID:37771077   PMID:37809108   PMID:37870961   PMID:37872712  
PMID:37922948   PMID:37943120   PMID:37967234   PMID:37990886   PMID:37990891   PMID:38019223   PMID:38040818   PMID:38047109   PMID:38058036   PMID:38128404   PMID:38139338   PMID:38155379  
PMID:38173102   PMID:38191609   PMID:38219188   PMID:38246222   PMID:38269481   PMID:38290660   PMID:38362771   PMID:38394545   PMID:38396916   PMID:38417222   PMID:38423222   PMID:38494972  
PMID:38496616   PMID:38504068   PMID:38541077   PMID:38576288  


Genomics

Comparative Map Data
BRAF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387140,713,328 - 140,924,929 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7140,719,327 - 140,924,929 (-)EnsemblGRCh38hg38GRCh38
GRCh377140,413,128 - 140,624,729 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367140,080,751 - 140,271,033 (-)NCBINCBI36Build 36hg18NCBI36
Build 347139,887,462 - 140,077,748NCBI
Celera7135,155,867 - 135,346,614 (-)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7134,729,459 - 134,920,529 (-)NCBIHuRef
CHM1_17140,368,045 - 140,559,148 (-)NCBICHM1_1
T2T-CHM13v2.07142,027,505 - 142,239,131 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27139,771,989 - 139,962,886 (-)NCBI
Braf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39639,580,171 - 39,702,592 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl639,580,171 - 39,702,397 (-)EnsemblGRCm39 Ensembl
GRCm38639,603,231 - 39,725,658 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl639,603,237 - 39,725,463 (-)EnsemblGRCm38mm10GRCm38
MGSCv37639,553,236 - 39,675,462 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36639,557,807 - 39,675,462 (-)NCBIMGSCv36mm8
Celera639,588,093 - 39,710,723 (-)NCBICelera
Cytogenetic Map6B1NCBI
cM Map618.43NCBI
Braf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8469,329,772 - 69,476,931 (-)NCBIGRCr8
mRatBN7.2468,375,484 - 68,510,652 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl468,384,649 - 68,510,463 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0467,389,331 - 67,520,549 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl467,396,192 - 67,520,356 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0467,196,477 - 67,327,649 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4467,117,759 - 67,243,058 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1467,405,110 - 67,426,026 (-)NCBI
Celera463,383,337 - 63,515,499 (-)NCBICelera
Cytogenetic Map4q23NCBI
Braf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554942,567,238 - 2,712,708 (+)NCBIChiLan1.0ChiLan1.0
BRAF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26177,509,195 - 177,712,794 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1729,523,822 - 29,723,049 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07132,651,908 - 132,855,422 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17145,124,291 - 145,327,115 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7145,138,510 - 145,327,115 (-)Ensemblpanpan1.1panPan2
BRAF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1168,222,909 - 8,318,179 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl168,222,907 - 8,317,906 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha168,989,501 - 9,160,850 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0168,065,738 - 8,237,942 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl168,065,737 - 8,239,141 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1168,017,140 - 8,188,930 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0167,861,588 - 8,033,660 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0167,929,505 - 8,101,841 (+)NCBIUU_Cfam_GSD_1.0
Braf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511814,385,958 - 14,495,443 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365924,737,011 - 4,834,664 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365924,728,371 - 4,833,830 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BRAF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl188,957,991 - 9,132,553 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1188,957,963 - 9,132,558 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2189,522,257 - 9,636,501 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BRAF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121109,495,525 - 109,690,261 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660726,137,051 - 6,336,885 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Braf
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476520,773,885 - 20,951,736 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476520,766,368 - 20,951,560 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BRAF
1156 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004333.6(BRAF):c.755G>C (p.Arg252Pro) single nucleotide variant Global developmental delay [RCV000626860]|Noonan syndrome and Noonan-related syndrome [RCV001813496]|not provided [RCV000519768] Chr7:140801517 [GRCh38]
Chr7:140501317 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.2026C>T (p.Pro676Ser) single nucleotide variant not provided [RCV000520384] Chr7:140739913 [GRCh38]
Chr7:140439713 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.279A>G (p.Gln93=) single nucleotide variant Cardiovascular phenotype [RCV002438502]|RASopathy [RCV000551995]|not specified [RCV001269260] Chr7:140834834 [GRCh38]
Chr7:140534634 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2127+7A>G single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813506]|RASopathy [RCV000552800] Chr7:140739805 [GRCh38]
Chr7:140439605 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.-18C>G single nucleotide variant RASopathy [RCV000033264] Chr7:140924721 [GRCh38]
Chr7:140624521 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.36G>A (p.Ala12=) single nucleotide variant BRAF-related condition [RCV003944862]|Cardiovascular phenotype [RCV002345261]|LEOPARD syndrome 3 [RCV000283347]|Noonan syndrome 7 [RCV000380281]|Noonan syndrome and Noonan-related syndrome [RCV001813215]|RASopathy [RCV000033265]|not provided [RCV000590400] Chr7:140924668 [GRCh38]
Chr7:140624468 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.41C>G (p.Pro14Arg) single nucleotide variant RASopathy [RCV000654946]|not provided [RCV000033266] Chr7:140924663 [GRCh38]
Chr7:140624463 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) single nucleotide variant BRAF-related condition [RCV003904885]|Cardiomyopathy [RCV000853030]|Cardiovascular phenotype [RCV002354178]|LEOPARD syndrome 3 [RCV001160946]|Noonan syndrome 7 [RCV001160947]|Noonan syndrome and Noonan-related syndrome [RCV001813216]|RASopathy [RCV000520051]|not provided [RCV000590699]|not specified [RCV000037950] Chr7:140924640 [GRCh38]
Chr7:140624440 [GRCh37]
Chr7:7q34		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_004333.6(BRAF):c.76G>A (p.Glu26Lys) single nucleotide variant Cardiovascular phenotype [RCV002399351]|RASopathy [RCV001317767]|not specified [RCV000033268] Chr7:140924628 [GRCh38]
Chr7:140624428 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000659284]|Cardiovascular phenotype [RCV002415445]|LEOPARD syndrome 3 [RCV000381670]|Noonan syndrome 7 [RCV001095196]|Noonan syndrome [RCV000289594]|Noonan syndrome and Noonan-related syndrome [RCV001813217]|RASopathy [RCV000033269]|not provided [RCV000224291]|not specified [RCV000037961] Chr7:140924626 [GRCh38]
Chr7:140624426 [GRCh37]
Chr7:7q34		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_004333.6(BRAF):c.83GCGCCG[1] (p.28GA[1]) microsatellite BRAF-related condition [RCV003964829]|Noonan syndrome [RCV001261848]|RASopathy [RCV000033270]|not provided [RCV000589404] Chr7:140924604..140924615 [GRCh38]
Chr7:140624404..140624415 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2]) microsatellite BRAF-related condition [RCV003904886]|Cardiovascular phenotype [RCV003362666]|Primary dilated cardiomyopathy [RCV000853029]|RASopathy [RCV000544255]|not provided [RCV000587891]|not specified [RCV000033271] Chr7:140924604..140924609 [GRCh38]
Chr7:140624404..140624409 [GRCh37]
Chr7:7q34		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004333.6(BRAF):c.325T>A (p.Phe109Ile) single nucleotide variant RASopathy [RCV001852669]|not provided [RCV000033272] Chr7:140834788 [GRCh38]
Chr7:140534588 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.4(BRAF):c.350T>G (p.Met117Arg) single nucleotide variant Rasopathy [RCV000033273] Chr7:140834763 [GRCh38]
Chr7:140534563 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.365C>A (p.Ser122Tyr) single nucleotide variant RASopathy [RCV003539762]|not provided [RCV000033274] Chr7:140834748 [GRCh38]
Chr7:140534548 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.399A>G (p.Ser133=) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002496496]|Cardiovascular phenotype [RCV002371806]|RASopathy [RCV000033275]|not provided [RCV001719716]|not specified [RCV000779847] Chr7:140834714 [GRCh38]
Chr7:140534514 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.439A>G (p.Ser147Gly) single nucleotide variant RASopathy [RCV001852670]|not specified [RCV000033276] Chr7:140834674 [GRCh38]
Chr7:140534474 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.730A>C (p.Thr244Pro) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000037955]|RASopathy [RCV000804367]|not provided [RCV000033282] Chr7:140801542 [GRCh38]
Chr7:140501342 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000037956]|Cardiofaciocutaneous syndrome 1 [RCV000515291]|LEOPARD syndrome 3 [RCV000171142]|Noonan syndrome and Noonan-related syndrome [RCV000788013]|RASopathy [RCV000469440]|not provided [RCV000033283] Chr7:140801537 [GRCh38]
Chr7:140501337 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000037957]|Neurodevelopmental delay [RCV002273939]|Noonan syndrome and Noonan-related syndrome [RCV000788012]|Noonan syndrome with multiple lentigines [RCV000055897]|RASopathy [RCV000688777]|not provided [RCV000033284] Chr7:140801537 [GRCh38]
Chr7:140501337 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_004333.6(BRAF):c.740T>C (p.Phe247Ser) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV000788011]|RASopathy [RCV003539763]|not provided [RCV001703443] Chr7:140801532 [GRCh38]
Chr7:140501332 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.753T>C (p.Cys251=) single nucleotide variant not provided [RCV001711217] Chr7:140801519 [GRCh38]
Chr7:140501319 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys) single nucleotide variant Inborn genetic diseases [RCV000624665]|Noonan syndrome [RCV000033288]|RASopathy [RCV003539764]|not provided [RCV000212151] Chr7:140801503 [GRCh38]
Chr7:140501303 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.784C>A (p.Gln262Lys) single nucleotide variant RASopathy [RCV001193980]|not provided [RCV000033290] Chr7:140801488 [GRCh38]
Chr7:140501288 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1120A>G (p.Ile374Val) single nucleotide variant RASopathy [RCV003002258]|not specified [RCV003491184] Chr7:140794328 [GRCh38]
Chr7:140494128 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1165C>T (p.Arg389Cys) single nucleotide variant RASopathy [RCV002514141]|not provided [RCV000033297] Chr7:140787560 [GRCh38]
Chr7:140487360 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) single nucleotide variant Cardiovascular phenotype [RCV002362605]|LEOPARD syndrome 3 [RCV000349078]|Noonan syndrome 7 [RCV000290490]|Noonan syndrome and Noonan-related syndrome [RCV001813218]|RASopathy [RCV000033298]|not provided [RCV000680284]|not specified [RCV000037908] Chr7:140783108 [GRCh38]
Chr7:140482908 [GRCh37]
Chr7:7q34		 benign|likely benign|uncertain significance
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) single nucleotide variant Cardiovascular phenotype [RCV002381279]|LEOPARD syndrome 3 [RCV000388426]|Noonan syndrome 7 [RCV000333893]|Noonan syndrome and Noonan-related syndrome [RCV001813219]|RASopathy [RCV000033300]|not provided [RCV000588198]|not specified [RCV000037911] Chr7:140781676 [GRCh38]
Chr7:140481476 [GRCh37]
Chr7:7q34		 benign|likely benign|uncertain significance
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) single nucleotide variant Cardiovascular phenotype [RCV002381280]|LEOPARD syndrome 3 [RCV000318318]|Noonan syndrome 7 [RCV000278773]|Noonan syndrome and Noonan-related syndrome [RCV001813220]|RASopathy [RCV000033301]|not provided [RCV001719717]|not specified [RCV000037913] Chr7:140781625 [GRCh38]
Chr7:140481425 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) single nucleotide variant Breast neoplasm [RCV000426199]|Cardiofaciocutaneous syndrome 1 [RCV002250499]|Neoplasm [RCV000442182]|Non-small cell lung carcinoma [RCV000037914]|Noonan syndrome and Noonan-related syndrome [RCV001813221]|RASopathy [RCV000033302]|not provided [RCV001811232] Chr7:140781617 [GRCh38]
Chr7:140481417 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004333.6(BRAF):c.1391G>C (p.Gly464Ala) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000824917]|Cardiofaciocutaneous syndrome 1 [RCV001807745] Chr7:140781617 [GRCh38]
Chr7:140481417 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) single nucleotide variant BRAF-related condition [RCV003407389]|Cardio-facio-cutaneous syndrome [RCV000037917]|Cardiofaciocutaneous syndrome 1 [RCV001293860]|Noonan syndrome and Noonan-related syndrome [RCV001813222]|RASopathy [RCV000797502]|See cases [RCV002251944]|not provided [RCV000033305] Chr7:140781605 [GRCh38]
Chr7:140481405 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000211748]|Cardiofaciocutaneous syndrome 1 [RCV000015008]|Lung adenocarcinoma [RCV000436804]|Malignant melanoma of skin [RCV000419555]|Melanoma [RCV000427215]|Multiple myeloma [RCV000443381]|Neoplasm of the large intestine [RCV000424773]|Noonan syndrome 1 [RCV003450641]|Noonan syndrome 7 [RCV002287336]|Noonan syndrome and Noonan-related syndrome [RCV001813209]|Prostate adenocarcinoma [RCV000434590]|RASopathy [RCV000033307]|Squamous cell carcinoma of the skin [RCV000437869]|Squamous cell lung carcinoma [RCV000427006]|Transitional cell carcinoma of the bladder [RCV000419576]|not provided [RCV000212152]|not specified [RCV000506575] Chr7:140781602 [GRCh38]
Chr7:140481402 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1411G>T (p.Val471Phe) single nucleotide variant Ataxia-telangiectasia syndrome [RCV002051798]|Melanoma [RCV000417719]|RASopathy [RCV000654957]|not provided [RCV000033308] Chr7:140781597 [GRCh38]
Chr7:140481397 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1411G>A (p.Val471Ile) single nucleotide variant not provided [RCV000033309] Chr7:140781597 [GRCh38]
Chr7:140481397 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000150208]|not provided [RCV001703444] Chr7:140778061 [GRCh38]
Chr7:140477861 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000150207]|Cardiofaciocutaneous syndrome 1 [RCV002496497]|Noonan syndrome and Noonan-related syndrome [RCV001813223]|RASopathy [RCV001172275]|not provided [RCV000033311] Chr7:140778054 [GRCh38]
Chr7:140477854 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV001814021]|not provided [RCV000207509] Chr7:140778011 [GRCh38]
Chr7:140477811 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004333.6(BRAF):c.1497A>T (p.Lys499Asn) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000824982] Chr7:140778011 [GRCh38]
Chr7:140477811 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV001089762]|Noonan syndrome [RCV001261045]|RASopathy [RCV000822490]|not provided [RCV000033316] Chr7:140778006 [GRCh38]
Chr7:140477806 [GRCh37]
Chr7:7q34		 pathogenic|uncertain significance|not provided
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000211750]|Cardiofaciocutaneous syndrome 1 [RCV000015012]|Familial cardiofaciocutaneous syndrome [RCV001273349]|Pulmonic stenosis [RCV000414915]|RASopathy [RCV000808147]|not provided [RCV000207518] Chr7:140778006 [GRCh38]
Chr7:140477806 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1502A>T (p.Glu501Val) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000037924]|Cardiofaciocutaneous syndrome 1 [RCV001775071]|RASopathy [RCV001852671]|not provided [RCV000033318] Chr7:140778006 [GRCh38]
Chr7:140477806 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe) single nucleotide variant Noonan syndrome [RCV000824923]|RASopathy [RCV002513320]|not provided [RCV000033319] Chr7:140777995 [GRCh38]
Chr7:140477795 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1592G>T (p.Trp531Leu) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000626038] Chr7:140777014 [GRCh38]
Chr7:140476814 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000150205]|RASopathy [RCV000521124]|not provided [RCV000080902] Chr7:140777011 [GRCh38]
Chr7:140476811 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000037927]|Noonan syndrome and Noonan-related syndrome [RCV001813224]|not provided [RCV000207514] Chr7:140754233 [GRCh38]
Chr7:140454033 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000824924]|Cardiofaciocutaneous syndrome 1 [RCV000677114]|Inborn genetic diseases [RCV001265848]|RASopathy [RCV003539765]|not provided [RCV000033328] Chr7:140754206 [GRCh38]
Chr7:140454006 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000211751]|Cardiofaciocutaneous syndrome 1 [RCV000015013]|Inborn genetic diseases [RCV000624854]|Noonan syndrome 1 [RCV003450642]|RASopathy [RCV000474979]|not provided [RCV000033329] Chr7:140754187 [GRCh38]
Chr7:140453987 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.4(BRAF):c.1749T>G (p.Phe583Leu) single nucleotide variant Rasopathy [RCV000033330] Chr7:140753386 [GRCh38]
Chr7:140453186 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1775T>C (p.Ile592Thr) single nucleotide variant not provided [RCV000033331] Chr7:140753360 [GRCh38]
Chr7:140453160 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000208758]|Cardiofaciocutaneous syndrome 1 [RCV000856749]|Glioblastoma [RCV000431311]|Inborn genetic diseases [RCV001265809]|Lung adenocarcinoma [RCV000441123]|Multiple myeloma [RCV000424067]|Noonan syndrome [RCV000844615]|RASopathy [RCV000033332]|Transitional cell carcinoma of the bladder [RCV000438697]|not provided [RCV000077865] Chr7:140753348 [GRCh38]
Chr7:140453148 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|not provided
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV001705626]|Melanoma [RCV000433036]|Neoplasm [RCV000440873]|Noonan syndrome [RCV000824927]|RASopathy [RCV001172273]|not provided [RCV000033334] Chr7:140753339 [GRCh38]
Chr7:140453139 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000208774]|Melanoma [RCV000433794]|RASopathy [RCV000798913]|not provided [RCV001354831] Chr7:140753336 [GRCh38]
Chr7:140453136 [GRCh37]
Chr7:7q34		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000824928]|Cardiofaciocutaneous syndrome 1 [RCV002051799]|Noonan syndrome 7 [RCV002510565]|RASopathy [RCV000033336]|not provided [RCV003321487] Chr7:140753333 [GRCh38]
Chr7:140453133 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) single nucleotide variant Cardiovascular phenotype [RCV002408490]|LEOPARD syndrome 3 [RCV000361471]|Noonan syndrome 7 [RCV000306807]|RASopathy [RCV000033338]|not provided [RCV000509253]|not specified [RCV000037940] Chr7:140749350 [GRCh38]
Chr7:140449150 [GRCh37]
Chr7:7q34		 benign|not provided
NM_004333.6(BRAF):c.1992+16G>C single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002496498]|RASopathy [RCV000033340]|not provided [RCV000509409]|not specified [RCV000077866] Chr7:140749271 [GRCh38]
Chr7:140449071 [GRCh37]
Chr7:7q34		 benign|likely benign|not provided
NM_004333.4(BRAF):c.2012G>A (p.Arg671Gln) single nucleotide variant Rasopathy [RCV000033342] Chr7:140739927 [GRCh38]
Chr7:140439727 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.4(BRAF):c.2126A>G (p.Gln709Arg) single nucleotide variant Rasopathy [RCV000033344] Chr7:140739813 [GRCh38]
Chr7:140439613 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.2155C>T (p.Arg719Cys) single nucleotide variant RASopathy [RCV003099058] Chr7:140734743 [GRCh38]
Chr7:140434543 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) single nucleotide variant BRAF-related condition [RCV003924882]|Cardiovascular phenotype [RCV002426534]|LEOPARD syndrome 3 [RCV000396404]|Noonan syndrome 7 [RCV000313070]|Noonan syndrome and Noonan-related syndrome [RCV001813225]|RASopathy [RCV000033346]|not provided [RCV001703445]|not specified [RCV000037947] Chr7:140734663 [GRCh38]
Chr7:140434463 [GRCh37]
Chr7:7q34		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) single nucleotide variant BRAF-related condition [RCV003398558]|Cardio-facio-cutaneous syndrome [RCV003230371]|Cardiofaciocutaneous syndrome 1 [RCV000515432]|Cardiofaciocutaneous syndrome 1 [RCV001329218]|Noonan syndrome 1 [RCV000208540]|Noonan syndrome 7 [RCV000022678]|Noonan syndrome [RCV000211753]|RASopathy [RCV000545320]|not provided [RCV000033281] Chr7:140801550 [GRCh38]
Chr7:140501350 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) single nucleotide variant Inborn genetic diseases [RCV000624512]|Noonan syndrome 1 [RCV000208548]|Noonan syndrome 7 [RCV000022679]|RASopathy [RCV002513171]|not provided [RCV001703420] Chr7:140801550 [GRCh38]
Chr7:140501350 [GRCh37]
Chr7:7q34		 pathogenic|not provided
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000211752]|Cardiofaciocutaneous syndrome 1 [RCV000022680]|Cardiofaciocutaneous syndrome 1 [RCV000515363]|Cardiofaciocutaneous syndrome 1 [RCV001089761]|LEOPARD syndrome 3 [RCV000022681]|Noonan syndrome 7 [RCV002288517]|Noonan syndrome with multiple lentigines [RCV000055896]|RASopathy [RCV000654966]|not provided [RCV000207516] Chr7:140801551 [GRCh38]
Chr7:140501351 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|not provided
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) single nucleotide variant Noonan syndrome 1 [RCV000208560]|Noonan syndrome 7 [RCV000022682]|RASopathy [RCV000191066]|not provided [RCV001781297] Chr7:140777013 [GRCh38]
Chr7:140476813 [GRCh37]
Chr7:7q34		 pathogenic|not provided
NM_004333.6(BRAF):c.-19C>T single nucleotide variant LEOPARD syndrome 3 [RCV000406169]|Noonan syndrome 7 [RCV000370547]|RASopathy [RCV000034331]|not provided [RCV001811235]|not specified [RCV000077864] Chr7:140924722 [GRCh38]
Chr7:140624522 [GRCh37]
Chr7:7q34		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) single nucleotide variant Astrocytoma, low-grade, somatic [RCV000014994]|Brainstem glioma [RCV000425166]|Carcinoma of colon [RCV000014992]|Cardio-facio-cutaneous syndrome [RCV000208763]|Cerebral arteriovenous malformation [RCV000860020]|Colonic neoplasm [RCV000420614]|Cystic epithelial invagination containing papillae lined by columnar epithelium [RCV000662278]|Gastrointestinal stromal tumor [RCV000440540]|Glioblastoma [RCV000425847]|Lung adenocarcinoma [RCV000429915]|Lung carcinoma [RCV000433305]|Lymphangioma [RCV002051586]|Malignant melanoma of skin [RCV000417746]|Malignant neoplastic disease [RCV001254874]|Melanoma [RCV000067669]|Multiple myeloma [RCV000430562]|Neoplasm [RCV000443448]|Neoplasm of brain [RCV000435441]|Neoplasm of ovary [RCV000432628]|Neoplasm of the large intestine [RCV000443745]|Nephroblastoma [RCV001248834]|Non-small cell lung carcinoma [RCV000037936]|Nongerminomatous germ cell tumor [RCV000022677]|Papillary renal cell carcinoma, sporadic [RCV000440802]|Papillary thyroid carcinoma [RCV000014993]|Squamous cell carcinoma of the head and neck [RCV000424470]|Vascular malformation [RCV003458334]|not provided [RCV000080903] Chr7:140753336 [GRCh38]
Chr7:140453136 [GRCh37]
Chr7:140099605 [NCBI36]
Chr7:7q34		 pathogenic|likely pathogenic|drug response|other|not provided
NM_004333.6(BRAF):c.1385G>T (p.Arg462Ile) single nucleotide variant Carcinoma of colon [RCV000014995] Chr7:140781623 [GRCh38]
Chr7:140481423 [GRCh37]
Chr7:7q34		 pathogenic|other
NM_004333.6(BRAF):c.1388T>G (p.Ile463Ser) single nucleotide variant Carcinoma of colon [RCV000014996] Chr7:140781620 [GRCh38]
Chr7:140481420 [GRCh37]
Chr7:7q34		 pathogenic|other
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) single nucleotide variant B-cell chronic lymphocytic leukemia [RCV000436895]|Carcinoma of colon [RCV000014997]|Cardio-facio-cutaneous syndrome [RCV001261044]|Neoplasm [RCV000418719]|Noonan syndrome [RCV000844618]|RASopathy [RCV000033304]|not provided [RCV000207512] Chr7:140781617 [GRCh38]
Chr7:140481417 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000208416]|Cardiofaciocutaneous syndrome 1 [RCV000014998]|Noonan syndrome 1 [RCV003150930]|Noonan syndrome 7 [RCV003338381]|Noonan syndrome [RCV000033285]|Noonan syndrome [RCV000678900]|RASopathy [RCV001047900]|not provided [RCV000235118] Chr7:140801536 [GRCh38]
Chr7:140501336 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) single nucleotide variant B-cell chronic lymphocytic leukemia [RCV000440232]|Carcinoma of colon [RCV000014999]|Gastric adenocarcinoma [RCV000423181]|Lung adenocarcinoma [RCV000433498]|Malignant melanoma of skin [RCV000425399]|Malignant neoplasm of body of uterus [RCV000422559]|Melanoma [RCV000440872]|Neoplasm [RCV000443528]|Non-small cell lung carcinoma [RCV000037938]|Prostate adenocarcinoma [RCV000432849]|Thyroid cancer, nonmedullary, 2 [RCV000015000]|Thyroid tumor [RCV000432202] Chr7:140753334 [GRCh38]
Chr7:140453134 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|other
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) single nucleotide variant Lung adenocarcinoma [RCV000015001]|Lung carcinoma [RCV000436576]|Malignant melanoma of skin [RCV000424032]|Multiple myeloma [RCV000421693]|Neoplasm of the large intestine [RCV000429151]|Non-small cell lung carcinoma [RCV000037916]|Squamous cell carcinoma of the head and neck [RCV000438708]|Squamous cell lung carcinoma [RCV000438953] Chr7:140781611 [GRCh38]
Chr7:140481411 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) single nucleotide variant Lung adenocarcinoma [RCV000015002]|Malignant melanoma of skin [RCV000421775]|Melanoma [RCV000439504]|Multiple myeloma [RCV000432024]|Neoplasm of ovary [RCV000444137]|Prostate adenocarcinoma [RCV000421201] Chr7:140753345 [GRCh38]
Chr7:140453145 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|other
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV002271369]|Lung carcinoma [RCV000419516]|Melanoma [RCV000426915]|Neoplasm [RCV000437189]|Non-small cell lung carcinoma [RCV000015003]|Noonan syndrome 1 [RCV000208539]|Noonan syndrome 7 [RCV000030948]|Noonan syndrome [RCV000033333]|Noonan syndrome and Noonan-related syndrome [RCV001813207]|RASopathy [RCV002513056]|not provided [RCV000505705] Chr7:140753346 [GRCh38]
Chr7:140453146 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|other|not provided
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV001778653]|Lung adenocarcinoma [RCV000439657]|Malignant melanoma of skin [RCV000428425]|Melanoma [RCV000423124]|Multiple myeloma [RCV000433203]|Neoplasm of the large intestine [RCV000421772]|Non-Hodgkin lymphoma [RCV000015004]|Prostate adenocarcinoma [RCV000439076]|Squamous cell carcinoma of the skin [RCV000422506]|Squamous cell lung carcinoma [RCV000441999]|Transitional cell carcinoma of the bladder [RCV000428973]|not provided [RCV000033306] Chr7:140781603 [GRCh38]
Chr7:140481403 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|other
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) single nucleotide variant Lung adenocarcinoma [RCV000430006]|Lung carcinoma [RCV000440864]|Malignant melanoma of skin [RCV000432193]|Multiple myeloma [RCV000444131]|Neoplasm [RCV000421485]|Neoplasm of the large intestine [RCV000419278]|Non-Hodgkin lymphoma [RCV000015005]|Non-small cell lung carcinoma [RCV000150210]|Prostate adenocarcinoma [RCV000439564]|Squamous cell carcinoma of the skin [RCV000422572]|Squamous cell lung carcinoma [RCV000432393]|Transitional cell carcinoma of the bladder [RCV000439801] Chr7:140781602 [GRCh38]
Chr7:140481402 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|other
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) single nucleotide variant Adrenal cortex carcinoma [RCV000433779]|B-cell chronic lymphocytic leukemia [RCV000418680]|Lung adenocarcinoma [RCV000426107]|Malignant melanoma of skin [RCV000423919]|Melanoma [RCV000426339]|Multiple myeloma [RCV000442759]|Neoplasm of brain [RCV000443065]|Neoplasm of the large intestine [RCV000443882]|Non-Hodgkin lymphoma [RCV000015006]|Non-small cell lung carcinoma [RCV000037932]|RASopathy [RCV001238853]|Squamous cell carcinoma of the head and neck [RCV000435875]|Transitional cell carcinoma of the bladder [RCV000437006] Chr7:140753354 [GRCh38]
Chr7:140453154 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance|other
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000208766]|Cardiofaciocutaneous syndrome 1 [RCV000015007]|Cardiofaciocutaneous syndrome 1 [RCV001027771]|Cardiofaciocutaneous syndrome 1 [RCV003224098]|Inborn genetic diseases [RCV000623239]|LEOPARD syndrome 3 [RCV001329219]|Noonan syndrome 1 [RCV001813744]|Noonan syndrome 7 [RCV001261967]|Noonan syndrome and Noonan-related syndrome [RCV001813208]|RASopathy [RCV000033289]|not provided [RCV000080904] Chr7:140801502 [GRCh38]
Chr7:140501302 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) single nucleotide variant Ataxia-telangiectasia syndrome [RCV001849264]|BRAF-related condition [RCV003415705]|Cardio-facio-cutaneous syndrome [RCV000208764]|Cardiofaciocutaneous syndrome 1 [RCV000015009]|Inborn genetic diseases [RCV001266898]|Noonan syndrome [RCV000211749]|RASopathy [RCV001172276]|not provided [RCV000680805] Chr7:140778053 [GRCh38]
Chr7:140477853 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000015010]|Noonan syndrome and Noonan-related syndrome [RCV001813210]|RASopathy [RCV000779848]|not provided [RCV000207517] Chr7:140778013 [GRCh38]
Chr7:140477813 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000015011]|Inborn genetic diseases [RCV002514099]|Noonan syndrome [RCV000844616]|RASopathy [RCV000033315]|not provided [RCV000207513] Chr7:140778007 [GRCh38]
Chr7:140477807 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000208775]|Cardiofaciocutaneous syndrome 1 [RCV000015014]|Dandy-Walker syndrome [RCV001257953]|Inborn genetic diseases [RCV000623633]|PHACE syndrome [RCV000779634] Chr7:140777006 [GRCh38]
Chr7:140476806 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000015015]|Cardiofaciocutaneous syndrome 1 [RCV000763164]|Inborn genetic diseases [RCV000622900]|RASopathy [RCV001851863]|not provided [RCV000033337] Chr7:140749365 [GRCh38]
Chr7:140449165 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1177+224_1177+225dup duplication not provided [RCV001544766] Chr7:140787300..140787301 [GRCh38]
Chr7:140487100..140487101 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1150A>G (p.Arg384Gly) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813490]|RASopathy [RCV000521582]|not specified [RCV001192587] Chr7:140787575 [GRCh38]
Chr7:140487375 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1022C>T (p.Pro341Leu) single nucleotide variant not provided [RCV000520673] Chr7:140794426 [GRCh38]
Chr7:140494226 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.5(BRAF):c.284G>C (p.Arg95Thr) single nucleotide variant Rasopathy [RCV000519488] Chr7:140834829 [GRCh38]
Chr7:140534629 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) single nucleotide variant Noonan syndrome [RCV000824914]|Noonan syndrome and Noonan-related syndrome [RCV000788009]|RASopathy [RCV001384671]|not provided [RCV000049222] Chr7:140801531 [GRCh38]
Chr7:140501331 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) single nucleotide variant BRAF-related condition [RCV003390750]|Lung adenocarcinoma [RCV000431645]|Malignant melanoma of skin [RCV000439352]|Multiple myeloma [RCV000422257]|Neoplasm of the large intestine [RCV000441971]|Ovarian serous cystadenocarcinoma [RCV000433029]|Papillary renal cell carcinoma, sporadic [RCV000425037]|RASopathy [RCV001363294] Chr7:140754187 [GRCh38]
Chr7:140453987 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln) single nucleotide variant Noonan syndrome [RCV000150201]|RASopathy [RCV003539770]|not provided [RCV000034332] Chr7:140753334 [GRCh38]
Chr7:140453134 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.2127+3A>G single nucleotide variant BRAF-related condition [RCV003944872]|Cardiofaciocutaneous syndrome 1 [RCV002477052]|LEOPARD syndrome 3 [RCV001159455]|Noonan syndrome 7 [RCV001159454]|RASopathy [RCV000157707]|not provided [RCV000590004]|not specified [RCV000034333] Chr7:140739809 [GRCh38]
Chr7:140439609 [GRCh37]
Chr7:7q34		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4]) microsatellite BRAF-related condition [RCV003952393]|Noonan syndrome [RCV001261041]|Noonan syndrome and Noonan-related syndrome [RCV001813320]|RASopathy [RCV000157830]|not provided [RCV000723548]|not specified [RCV000484992] Chr7:140924603..140924604 [GRCh38]
Chr7:140624403..140624404 [GRCh37]
Chr7:7q34		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) single nucleotide variant LEOPARD syndrome 3 [RCV000345522]|Noonan syndrome 7 [RCV000305967]|Noonan syndrome and Noonan-related syndrome [RCV001813332]|RASopathy [RCV000524069]|not provided [RCV001705678]|not specified [RCV000037898] Chr7:140794380 [GRCh38]
Chr7:140494180 [GRCh37]
Chr7:7q34		 benign|likely benign|uncertain significance
NM_004333.6(BRAF):c.1040G>C (p.Arg347Pro) single nucleotide variant not specified [RCV000037903] Chr7:140794408 [GRCh38]
Chr7:140494208 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1084C>A (p.Arg362=) single nucleotide variant Cardiovascular phenotype [RCV002426564]|Noonan syndrome and Noonan-related syndrome [RCV001813333]|RASopathy [RCV001457681]|not provided [RCV000459305]|not specified [RCV000037904] Chr7:140794364 [GRCh38]
Chr7:140494164 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_001378469.1(BRAF):c.1178-61A>G single nucleotide variant RASopathy [RCV001319935]|not specified [RCV000037905] Chr7:140783152 [GRCh38]
Chr7:140482952 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1203C>T (p.Thr401=) single nucleotide variant Cardiovascular phenotype [RCV002345296]|Noonan syndrome and Noonan-related syndrome [RCV001813334]|RASopathy [RCV002054680]|not specified [RCV000037906] Chr7:140783132 [GRCh38]
Chr7:140482932 [GRCh37]
Chr7:7q34		 likely benign
NM_001378469.1(BRAF):c.1178-35T>C single nucleotide variant RASopathy [RCV002513486]|not specified [RCV000037907] Chr7:140783126 [GRCh38]
Chr7:140482926 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1236C>T (p.Asn412=) single nucleotide variant RASopathy [RCV002513487]|not provided [RCV000680353]|not specified [RCV000037909] Chr7:140783099 [GRCh38]
Chr7:140482899 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002477098]|Noonan syndrome 7 [RCV001270774]|RASopathy [RCV002513488]|not specified [RCV000037910] Chr7:140783098 [GRCh38]
Chr7:140482898 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1347T>C (p.Asp449=) single nucleotide variant RASopathy [RCV001461372]|not specified [RCV000037912] Chr7:140781661 [GRCh38]
Chr7:140481461 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1396G>A (p.Gly466Arg) single nucleotide variant Neoplasm of ovary [RCV000428876]|Non-small cell lung carcinoma [RCV000037915] Chr7:140781612 [GRCh38]
Chr7:140481412 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1405_1407del (p.Gly469del) deletion Non-small cell lung carcinoma [RCV000037918] Chr7:140781601..140781603 [GRCh38]
Chr7:140481401..140481403 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) single nucleotide variant Lung adenocarcinoma [RCV000427987]|Malignant melanoma of skin [RCV000436805]|Multiple myeloma [RCV000418480]|Neoplasm [RCV000430773]|Neoplasm of the large intestine [RCV000420102]|Non-small cell lung carcinoma [RCV000037919]|Prostate adenocarcinoma [RCV000425868]|Squamous cell carcinoma of the skin [RCV000436583]|Squamous cell lung carcinoma [RCV000445054]|Transitional cell carcinoma of the bladder [RCV000435417] Chr7:140781602 [GRCh38]
Chr7:140481402 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg) single nucleotide variant Noonan syndrome [RCV000037920]|not provided [RCV000681421] Chr7:140781599 [GRCh38]
Chr7:140481399 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000037921]|Cardiofaciocutaneous syndrome 1 [RCV002051804]|Neurodevelopmental delay [RCV002273942] Chr7:140778066 [GRCh38]
Chr7:140477866 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1460T>G (p.Val487Gly) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000037922]|Inborn genetic diseases [RCV000622585]|RASopathy [RCV001852794]|not provided [RCV000788814] Chr7:140778048 [GRCh38]
Chr7:140477848 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1501G>C (p.Glu501Gln) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000037923] Chr7:140778007 [GRCh38]
Chr7:140477807 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1632T>C (p.Ile544=) single nucleotide variant BRAF-related condition [RCV003894863]|Cardiovascular phenotype [RCV003162329]|RASopathy [RCV001404530]|not provided [RCV000865947]|not specified [RCV000037925] Chr7:140776974 [GRCh38]
Chr7:140476774 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1694+14G>A single nucleotide variant LEOPARD syndrome 3 [RCV000263036]|Noonan syndrome 7 [RCV000321913]|RASopathy [RCV002054681]|not specified [RCV000037926] Chr7:140776898 [GRCh38]
Chr7:140476698 [GRCh37]
Chr7:7q34		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004333.6(BRAF):c.1720C>T (p.His574Tyr) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000037928]|not provided [RCV000999625] Chr7:140754208 [GRCh38]
Chr7:140454008 [GRCh37]
Chr7:7q34		 pathogenic|uncertain significance|not provided
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000037929]|Cardiofaciocutaneous syndrome 1 [RCV000763165]|not provided [RCV000524048] Chr7:140753392 [GRCh38]
Chr7:140453192 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1756G>A (p.Glu586Lys) single nucleotide variant Melanoma [RCV000419782]|Neoplasm [RCV000437874]|not specified [RCV000037930] Chr7:140753379 [GRCh38]
Chr7:140453179 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) single nucleotide variant Adrenal cortex carcinoma [RCV000444338]|B-cell chronic lymphocytic leukemia [RCV000422928]|Lung adenocarcinoma [RCV000443573]|Malignant melanoma of skin [RCV000432782]|Melanoma [RCV000440132]|Multiple myeloma [RCV000432575]|Neoplasm of brain [RCV000425325]|Neoplasm of the large intestine [RCV000425110]|Non-small cell lung carcinoma [RCV000037931]|Prostate cancer, hereditary, 1 [RCV002291550]|Squamous cell carcinoma of the head and neck [RCV000434944]|Transitional cell carcinoma of the bladder [RCV000417722] Chr7:140753355 [GRCh38]
Chr7:140453155 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1786G>T (p.Gly596Cys) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813335]|RASopathy [RCV002513489]|not specified [RCV000037933] Chr7:140753349 [GRCh38]
Chr7:140453149 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1798G>A (p.Val600Met) single nucleotide variant Melanoma [RCV000429286]|Non-small cell lung carcinoma [RCV000037934]|not provided [RCV001357636] Chr7:140753337 [GRCh38]
Chr7:140453137 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1798G>T (p.Val600Leu) single nucleotide variant Melanoma [RCV000435048]|Myoepithelial tumor [RCV002463625]|Non-small cell lung carcinoma [RCV000037935] Chr7:140753337 [GRCh38]
Chr7:140453137 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1799_1801del (p.Val600_Lys601delinsGlu) deletion Non-small cell lung carcinoma [RCV000037937]|not provided [RCV001354719] Chr7:140753334..140753336 [GRCh38]
Chr7:140453134..140453136 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) single nucleotide variant B-cell chronic lymphocytic leukemia [RCV000417689]|Cardiofaciocutaneous syndrome 1 [RCV000999627]|Gastric adenocarcinoma [RCV000420107]|Lung adenocarcinoma [RCV000425098]|Malignant melanoma of skin [RCV000438200]|Malignant neoplasm of body of uterus [RCV000444564]|Noonan syndrome [RCV000037939]|Prostate adenocarcinoma [RCV000431024]|RASopathy [RCV003539772]|Thyroid tumor [RCV000434946] Chr7:140753333 [GRCh38]
Chr7:140453133 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|not provided
NM_004333.6(BRAF):c.2128-10T>C single nucleotide variant RASopathy [RCV002054682]|not specified [RCV000037941] Chr7:140734780 [GRCh38]
Chr7:140434580 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2128-5del deletion Cardio-facio-cutaneous syndrome [RCV000284769]|Noonan syndrome [RCV000321054]|Noonan syndrome and Noonan-related syndrome [RCV001813337]|Noonan syndrome with multiple lentigines [RCV000375627]|RASopathy [RCV000226379]|not specified [RCV000037943] Chr7:140734775 [GRCh38]
Chr7:140434575 [GRCh37]
Chr7:7q34		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004333.6(BRAF):c.2128-6T>A single nucleotide variant not specified [RCV000037944] Chr7:140734776 [GRCh38]
Chr7:140434576 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2136C>T (p.Ala712=) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002496605]|Cardiovascular phenotype [RCV002415472]|RASopathy [RCV001447826]|not provided [RCV000587057]|not specified [RCV000037945] Chr7:140734762 [GRCh38]
Chr7:140434562 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.2229T>C (p.Phe743=) single nucleotide variant RASopathy [RCV002054683]|not specified [RCV000037946] Chr7:140734669 [GRCh38]
Chr7:140434469 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.375T>G (p.Ser125=) single nucleotide variant BRAF-related condition [RCV003974880]|Cardiovascular phenotype [RCV003372607]|LEOPARD syndrome 3 [RCV000271911]|Noonan syndrome 7 [RCV000329291]|Noonan syndrome and Noonan-related syndrome [RCV001813338]|RASopathy [RCV000520773]|not provided [RCV000586881]|not specified [RCV000037948] Chr7:140834738 [GRCh38]
Chr7:140534538 [GRCh37]
Chr7:7q34		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004333.6(BRAF):c.483G>C (p.Leu161=) single nucleotide variant BRAF-related condition [RCV003952432]|Cardiovascular phenotype [RCV002336135]|RASopathy [RCV000523533]|not provided [RCV000588891]|not specified [RCV000037949] Chr7:140834630 [GRCh38]
Chr7:140534430 [GRCh37]
Chr7:7q34		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004333.6(BRAF):c.708C>T (p.Asn236=) single nucleotide variant LEOPARD syndrome 3 [RCV000330619]|Noonan syndrome 7 [RCV000278004]|Noonan syndrome and Noonan-related syndrome [RCV001813339]|RASopathy [RCV000521784]|not provided [RCV001705679]|not specified [RCV000037951] Chr7:140807963 [GRCh38]
Chr7:140507763 [GRCh37]
Chr7:7q34		 benign|likely benign|uncertain significance
NM_004333.6(BRAF):c.714A>T (p.Val238=) single nucleotide variant Cardiovascular phenotype [RCV003298070]|not specified [RCV000037952] Chr7:140801558 [GRCh38]
Chr7:140501358 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.722C>A (p.Thr241Lys) single nucleotide variant Noonan syndrome [RCV000037953]|RASopathy [RCV000807047] Chr7:140801550 [GRCh38]
Chr7:140501350 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) single nucleotide variant Noonan syndrome [RCV000824912]|Noonan syndrome and Noonan-related syndrome [RCV000788008]|RASopathy [RCV002513490]|not provided [RCV000339233]|not specified [RCV000037958] Chr7:140801533 [GRCh38]
Chr7:140501333 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000208128]|Noonan syndrome [RCV000824915]|RASopathy [RCV001852795]|not provided [RCV000392102] Chr7:140801487 [GRCh38]
Chr7:140501287 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) single nucleotide variant Noonan syndrome [RCV000037962]|RASopathy [RCV000736078] Chr7:140801479 [GRCh38]
Chr7:140501279 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly) single nucleotide variant Cardiovascular phenotype [RCV002371831]|Noonan syndrome and Noonan-related syndrome [RCV001813340]|RASopathy [RCV000521017]|not provided [RCV001703886]|not specified [RCV000037963] Chr7:140924612 [GRCh38]
Chr7:140624412 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.968C>T (p.Ser323Leu) single nucleotide variant BRAF-related condition [RCV003964854]|Noonan syndrome and Noonan-related syndrome [RCV001813341]|RASopathy [RCV000157821]|not provided [RCV000680283]|not specified [RCV000037964] Chr7:140800374 [GRCh38]
Chr7:140500174 [GRCh37]
Chr7:7q34		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1		 pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3		 pathogenic
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln) single nucleotide variant Malignant melanoma of skin [RCV000427485]|Melanoma [RCV000431444]|Multiple myeloma [RCV000443326]|Prostate adenocarcinoma [RCV000437736] Chr7:140753345 [GRCh38]
Chr7:140453145 [GRCh37]
Chr7:140099614 [NCBI36]
Chr7:7q34		 pathogenic|likely pathogenic|not provided
NM_004333.4(BRAF):c.1100C>T (p.Pro367Leu) single nucleotide variant Malignant melanoma [RCV000067671] Chr7:140794348 [GRCh38]
Chr7:140494148 [GRCh37]
Chr7:140140617 [NCBI36]
Chr7:7q34		 not provided
NM_004333.6(BRAF):c.2128-5dup duplication Cardio-facio-cutaneous syndrome [RCV000324595]|Noonan syndrome [RCV000269428]|Noonan syndrome and Noonan-related syndrome [RCV001813336]|Noonan syndrome with multiple lentigines [RCV000379190]|RASopathy [RCV000196864]|not provided [RCV001573246]|not specified [RCV000037942] Chr7:140734774..140734775 [GRCh38]
Chr7:140434574..140434575 [GRCh37]
Chr7:7q34		 benign|likely benign|uncertain significance|not provided
NM_004333.6(BRAF):c.1807C>T (p.Arg603Ter) single nucleotide variant Endometrial carcinoma [RCV000119353]|RASopathy [RCV001362955]|not provided [RCV001200192] Chr7:140753328 [GRCh38]
Chr7:140453128 [GRCh37]
Chr7:7q34		 uncertain significance|not provided
NM_004333.6(BRAF):c.1141-19C>T single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002483240]|RASopathy [RCV002055431]|not specified [RCV000123865] Chr7:140787603 [GRCh38]
Chr7:140487403 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1315-18T>G single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002482940]|RASopathy [RCV002054535]|not provided [RCV003736547]|not specified [RCV000157664] Chr7:140781711 [GRCh38]
Chr7:140481511 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1433-19A>G single nucleotide variant RASopathy [RCV000522961]|not provided [RCV000123867]|not specified [RCV000157706] Chr7:140778094 [GRCh38]
Chr7:140477894 [GRCh37]
Chr7:7q34		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004333.6(BRAF):c.1433-5T>C single nucleotide variant RASopathy [RCV000983844]|not specified [RCV000123868] Chr7:140778080 [GRCh38]
Chr7:140477880 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1517+20T>C single nucleotide variant RASopathy [RCV002055432]|not specified [RCV000123869] Chr7:140777971 [GRCh38]
Chr7:140477771 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1992+16G>A single nucleotide variant RASopathy [RCV002054536]|not specified [RCV000123871] Chr7:140749271 [GRCh38]
Chr7:140449071 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.2128-16C>T single nucleotide variant BRAF-related condition [RCV003915238]|RASopathy [RCV002514663]|not specified [RCV000123872] Chr7:140734786 [GRCh38]
Chr7:140434586 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.-5A>G single nucleotide variant BRAF-related condition [RCV003952640]|LEOPARD syndrome 3 [RCV000407859]|Noonan syndrome 7 [RCV000301216]|Noonan syndrome and Noonan-related syndrome [RCV001813382]|not provided [RCV000587286]|not specified [RCV000123874] Chr7:140924708 [GRCh38]
Chr7:140624508 [GRCh37]
Chr7:7q34		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004333.6(BRAF):c.61G>A (p.Gly21Arg) single nucleotide variant not specified [RCV000120255] Chr7:140924643 [GRCh38]
Chr7:140624443 [GRCh37]
Chr7:7q34		 not provided
NM_004333.6(BRAF):c.72G>C (p.Glu24Asp) single nucleotide variant LEOPARD syndrome 3 [RCV001160944]|Noonan syndrome 7 [RCV001160945]|RASopathy [RCV001222521]|not provided [RCV000680282]|not specified [RCV000120256] Chr7:140924632 [GRCh38]
Chr7:140624432 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance|not provided
BRAF, LEU245PHE single nucleotide variant LEOPARD syndrome 3 [RCV000171142] Chr7:7q34 pathogenic
NM_004333.6(BRAF):c.1382A>G (p.Gln461Arg) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000659285] Chr7:140781626 [GRCh38]
Chr7:140481426 [GRCh37]
Chr7:7q34		 uncertain significance
Single allele duplication not specified [RCV000175312] Chr7:140434574..140434575 [GRCh37] benign
NM_004333.6(BRAF):c.131C>T (p.Pro44Leu) single nucleotide variant not provided [RCV000173337] Chr7:140924573 [GRCh38]
Chr7:140624373 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.138+17C>G single nucleotide variant RASopathy [RCV002054047]|not provided [RCV000173338]|not specified [RCV001193258] Chr7:140924549 [GRCh38]
Chr7:140624349 [GRCh37]
Chr7:7q34		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004333.6(BRAF):c.1305G>A (p.Arg435=) single nucleotide variant Cardiovascular phenotype [RCV002381567]|RASopathy [RCV003539806]|not provided [RCV000173799] Chr7:140783030 [GRCh38]
Chr7:140482830 [GRCh37]
Chr7:7q34		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q34(chr7:140705035-140843105)x3 copy number gain See cases [RCV000138067] Chr7:140705035..140843105 [GRCh38]
Chr7:140404835..140542905 [GRCh37]
Chr7:140051304..140189374 [NCBI36]
Chr7:7q34		 uncertain significance
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 copy number gain See cases [RCV000143724] Chr7:140061285..144622893 [GRCh38]
Chr7:139761085..144319986 [GRCh37]
Chr7:139407554..143950919 [NCBI36]
Chr7:7q34-35		 uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
NM_004333.6(BRAF):c.622A>G (p.Ile208Val) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813403]|RASopathy [RCV001172270]|not provided [RCV000589318]|not specified [RCV000155739] Chr7:140808049 [GRCh38]
Chr7:140507849 [GRCh37]
Chr7:7q34		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004333.6(BRAF):c.1794_1796dup (p.Thr599dup) duplication Childhood ganglioglioma [RCV000515781]|Non-small cell lung carcinoma [RCV000150195]|not provided [RCV001091496] Chr7:140753338..140753339 [GRCh38]
Chr7:140453138..140453139 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.*7T>C single nucleotide variant LEOPARD syndrome 3 [RCV000301466]|Noonan syndrome 7 [RCV000337738]|RASopathy [RCV001172271]|not specified [RCV000150196] Chr7:140734590 [GRCh38]
Chr7:140434390 [GRCh37]
Chr7:7q34		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV003224801]|Noonan syndrome 7 [RCV001374414]|Noonan syndrome [RCV000150197]|Noonan syndrome [RCV000824929]|RASopathy [RCV001850036]|not provided [RCV000788373] Chr7:140734763 [GRCh38]
Chr7:140434563 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1960T>C (p.Leu654=) single nucleotide variant not specified [RCV000150198] Chr7:140749319 [GRCh38]
Chr7:140449119 [GRCh37]
Chr7:7q34		 likely benign
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000150199]|Cardiofaciocutaneous syndrome 1 [RCV000767527]|Inborn genetic diseases [RCV000624589]|Noonan syndrome 1 [RCV000999624]|RASopathy [RCV000689333]|not provided [RCV000157831] Chr7:140749365 [GRCh38]
Chr7:140449165 [GRCh37]
Chr7:7q34		 pathogenic|not provided
NM_004333.6(BRAF):c.1405G>T (p.Gly469Ter) single nucleotide variant not specified [RCV000150211] Chr7:140781603 [GRCh38]
Chr7:140481403 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.111G>A (p.Ser37=) single nucleotide variant Cardiovascular phenotype [RCV002433643]|RASopathy [RCV000519506]|not provided [RCV000157665]|not specified [RCV000150216] Chr7:140924593 [GRCh38]
Chr7:140624393 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.-95GCCTCC[3] microsatellite not specified [RCV000150217] Chr7:140924775..140924780 [GRCh38]
Chr7:140624575..140624580 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000154266]|Melanoma [RCV000445270]|Neoplasm [RCV000426478]|RASopathy [RCV000522002]|not provided [RCV000157825] Chr7:140753350 [GRCh38]
Chr7:140453150 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) single nucleotide variant Chronic myelogenous leukemia, BCR-ABL1 positive [RCV000440055]|Lung adenocarcinoma [RCV000430462]|Malignant melanoma of skin [RCV000429356]|Melanoma [RCV000421956]|Multiple myeloma [RCV000438933]|Neoplasm of the large intestine [RCV000419529]|Non-small cell lung carcinoma [RCV000154399]|Ovarian serous cystadenocarcinoma [RCV000432607]|Papillary renal cell carcinoma, sporadic [RCV000440277] Chr7:140753393 [GRCh38]
Chr7:140453193 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV001192586]|Noonan syndrome [RCV000824921]|Noonan syndrome [RCV000844617]|RASopathy [RCV000154481]|not provided [RCV003317101] Chr7:140778053 [GRCh38]
Chr7:140477853 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn) single nucleotide variant Noonan syndrome [RCV000154526] Chr7:140778059 [GRCh38]
Chr7:140477859 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1055A>G (p.Asp352Gly) single nucleotide variant not specified [RCV000150213] Chr7:140794393 [GRCh38]
Chr7:140494193 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.240+11G>A single nucleotide variant RASopathy [RCV002053900]|not provided [RCV000157666] Chr7:140850100 [GRCh38]
Chr7:140549900 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg) single nucleotide variant RASopathy [RCV000205969]|not provided [RCV000157699] Chr7:140801487 [GRCh38]
Chr7:140501287 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.712-18T>C single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002492616]|RASopathy [RCV002053903]|not specified [RCV000157790] Chr7:140801578 [GRCh38]
Chr7:140501378 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.608+19G>C single nucleotide variant RASopathy [RCV002053904]|not provided [RCV001812136]|not specified [RCV000157809] Chr7:140808873 [GRCh38]
Chr7:140508673 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.981-20C>T single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002484964]|RASopathy [RCV002053905]|not specified [RCV000157810] Chr7:140794487 [GRCh38]
Chr7:140494287 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1742-10T>G single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813406]|RASopathy [RCV001294403]|not provided [RCV000157812] Chr7:140753403 [GRCh38]
Chr7:140453203 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.73C>T (p.Pro25Ser) single nucleotide variant not specified [RCV000157814] Chr7:140924631 [GRCh38]
Chr7:140624431 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.240+18A>G single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002498785]|RASopathy [RCV002053906]|not specified [RCV000157816] Chr7:140850093 [GRCh38]
Chr7:140549893 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV001803101]|Noonan syndrome 7 [RCV001808428]|Noonan syndrome [RCV000824913]|Noonan syndrome and Noonan-related syndrome [RCV000788010]|RASopathy [RCV000809145]|not provided [RCV000157818] Chr7:140801533 [GRCh38]
Chr7:140501333 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|not provided
NM_004333.6(BRAF):c.812G>A (p.Arg271His) single nucleotide variant not provided [RCV000157819] Chr7:140801460 [GRCh38]
Chr7:140501260 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.967T>C (p.Ser323Pro) single nucleotide variant RASopathy [RCV001850193]|not provided [RCV000157820] Chr7:140800375 [GRCh38]
Chr7:140500175 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1079G>A (p.Arg360Gln) single nucleotide variant not provided [RCV000157822] Chr7:140794369 [GRCh38]
Chr7:140494169 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1722C>A (p.His574Gln) single nucleotide variant not provided [RCV000157823] Chr7:140754206 [GRCh38]
Chr7:140454006 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.1785T>A (p.Phe595Leu) single nucleotide variant Melanoma [RCV000437147]|RASopathy [RCV001212304]|not provided [RCV000157824] Chr7:140753350 [GRCh38]
Chr7:140453150 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.70G>A (p.Glu24Lys) single nucleotide variant not provided [RCV000157826] Chr7:140924634 [GRCh38]
Chr7:140624434 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.73C>A (p.Pro25Thr) single nucleotide variant not provided [RCV000157827] Chr7:140924631 [GRCh38]
Chr7:140624431 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.4(BRAF):c.95G>A (p.Gly32Asp) single nucleotide variant Rasopathy [RCV000157828] Chr7:140924609 [GRCh38]
Chr7:140624409 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1001C>T (p.Pro334Leu) single nucleotide variant not provided [RCV000157829] Chr7:140794447 [GRCh38]
Chr7:140494247 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1405G>A (p.Gly469Arg) single nucleotide variant Melanoma [RCV000433832]|Non-small cell lung carcinoma [RCV000154398]|Noonan syndrome and Noonan-related syndrome [RCV001813396] Chr7:140781603 [GRCh38]
Chr7:140481403 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.918C>G (p.Ser306=) single nucleotide variant RASopathy [RCV001089324]|not provided [RCV000724862]|not specified [RCV000251953] Chr7:140800424 [GRCh38]
Chr7:140500224 [GRCh37]
Chr7:7q34		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV002222430]|Cardiofaciocutaneous syndrome 1 [RCV000184039]|Melanoma [RCV000427091]|Prostate cancer, hereditary, 1 [RCV002291588]|RASopathy [RCV002516942]|not provided [RCV000414439] Chr7:140753352 [GRCh38]
Chr7:140453152 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1022C>A (p.Pro341Gln) single nucleotide variant RASopathy [RCV000198326] Chr7:140794426 [GRCh38]
Chr7:140494226 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1390G>C (p.Gly464Arg) single nucleotide variant not provided [RCV000304268] Chr7:140781618 [GRCh38]
Chr7:140481418 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.2015G>T (p.Gly672Val) single nucleotide variant RASopathy [RCV000542587]|not provided [RCV002223874] Chr7:140739924 [GRCh38]
Chr7:140439724 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000856750]|RASopathy [RCV001172278]|not provided [RCV000291177] Chr7:140753339 [GRCh38]
Chr7:140453139 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.72G>A (p.Glu24=) single nucleotide variant RASopathy [RCV001475939] Chr7:140924632 [GRCh38]
Chr7:140624432 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1593G>T (p.Trp531Cys) single nucleotide variant not provided [RCV000255590] Chr7:140777013 [GRCh38]
Chr7:140476813 [GRCh37]
Chr7:7q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_004333.6(BRAF):c.2142T>C (p.Ile714=) single nucleotide variant RASopathy [RCV000546095] Chr7:140734756 [GRCh38]
Chr7:140434556 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro) single nucleotide variant Noonan syndrome 7 [RCV001781616]|not provided [RCV000207510] Chr7:140777032 [GRCh38]
Chr7:140476832 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1408_1410del (p.Thr470del) deletion Cardio-facio-cutaneous syndrome [RCV000208751] Chr7:140781598..140781600 [GRCh38]
Chr7:140481398..140481400 [GRCh37]
Chr7:7q34		 pathogenic|not provided
NM_004333.6(BRAF):c.1399T>G (p.Ser467Ala) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000208777]|not provided [RCV000346147] Chr7:140781609 [GRCh38]
Chr7:140481409 [GRCh37]
Chr7:7q34		 pathogenic|not provided
NM_004333.6(BRAF):c.259A>G (p.Ser87Gly) single nucleotide variant not provided [RCV000223377] Chr7:140834854 [GRCh38]
Chr7:140534654 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.1661T>C (p.Ile554Thr) single nucleotide variant Costello syndrome [RCV001261046]|RASopathy [RCV000231445] Chr7:140776945 [GRCh38]
Chr7:140476745 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.1950G>C (p.Met650Ile) single nucleotide variant RASopathy [RCV001367562]|not specified [RCV000239139] Chr7:140749329 [GRCh38]
Chr7:140449129 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1517+35G>C single nucleotide variant not provided [RCV001668147]|not specified [RCV000251190] Chr7:140777956 [GRCh38]
Chr7:140477756 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.193T>C (p.Leu65=) single nucleotide variant RASopathy [RCV002058152]|not provided [RCV001668498]|not specified [RCV000250962] Chr7:140850158 [GRCh38]
Chr7:140549958 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.*111C>T single nucleotide variant LEOPARD syndrome 3 [RCV000286051]|Noonan syndrome 7 [RCV000341128] Chr7:140734486 [GRCh38]
Chr7:140434286 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.712-40T>A single nucleotide variant not specified [RCV000241604] Chr7:140801600 [GRCh38]
Chr7:140501400 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.504+17A>G single nucleotide variant RASopathy [RCV002058154]|not provided [RCV002262890]|not specified [RCV000251442] Chr7:140834592 [GRCh38]
Chr7:140534392 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1993-11dup duplication RASopathy [RCV002058153]|not provided [RCV001705365]|not specified [RCV000246705] Chr7:140739956..140739957 [GRCh38]
Chr7:140439756..140439757 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1518-48C>T single nucleotide variant not provided [RCV001650854]|not specified [RCV000243003] Chr7:140777136 [GRCh38]
Chr7:140476936 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.980+27G>A single nucleotide variant not provided [RCV001538574]|not specified [RCV000243784] Chr7:140800335 [GRCh38]
Chr7:140500135 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.*387G>A single nucleotide variant LEOPARD syndrome 3 [RCV000383724]|Noonan syndrome 7 [RCV000289532] Chr7:140734210 [GRCh38]
Chr7:140434010 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002504176]|LEOPARD syndrome 3 [RCV000342225]|Noonan syndrome 7 [RCV000404519]|RASopathy [RCV000692862]|not provided [RCV000521672] Chr7:140794424 [GRCh38]
Chr7:140494224 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.981-14C>A single nucleotide variant LEOPARD syndrome 3 [RCV000357486]|Noonan syndrome 7 [RCV000262789]|RASopathy [RCV002058654]|not provided [RCV000438700] Chr7:140794481 [GRCh38]
Chr7:140494281 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.*3C>T single nucleotide variant LEOPARD syndrome 3 [RCV000402763]|Noonan syndrome 7 [RCV000297952] Chr7:140734594 [GRCh38]
Chr7:140434394 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.113C>T (p.Ala38Val) single nucleotide variant RASopathy [RCV001855096]|not provided [RCV000339054] Chr7:140924591 [GRCh38]
Chr7:140624391 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2128-16_2128-15del deletion Cardio-facio-cutaneous syndrome [RCV000334645]|Noonan syndrome [RCV000391074]|Noonan syndrome with multiple lentigines [RCV000281129] Chr7:140734785..140734786 [GRCh38]
Chr7:140434585..140434586 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1493T>A (p.Phe498Tyr) single nucleotide variant not provided [RCV000289545] Chr7:140778015 [GRCh38]
Chr7:140477815 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1518-9T>G single nucleotide variant RASopathy [RCV002059127]|not provided [RCV000271543] Chr7:140777097 [GRCh38]
Chr7:140476897 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.2101A>G (p.Arg701Gly) single nucleotide variant BRAF-related condition [RCV003401223]|not provided [RCV000338055] Chr7:140739838 [GRCh38]
Chr7:140439638 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.272C>T (p.Ala91Val) single nucleotide variant not provided [RCV000278430] Chr7:140834841 [GRCh38]
Chr7:140534641 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2128-4del deletion Cardio-facio-cutaneous syndrome [RCV000364008]|Noonan syndrome [RCV000328232]|Noonan syndrome with multiple lentigines [RCV000273180] Chr7:140734774 [GRCh38]
Chr7:140434574 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2128-28dup duplication Cardio-facio-cutaneous syndrome [RCV000364923]|Noonan syndrome [RCV000403194]|Noonan syndrome with multiple lentigines [RCV000310221]|not specified [RCV002248626] Chr7:140734797..140734798 [GRCh38]
Chr7:140434597..140434598 [GRCh37]
Chr7:7q34		 benign|uncertain significance
NM_004333.6(BRAF):c.107C>T (p.Ser36Phe) single nucleotide variant RASopathy [RCV003654248]|not provided [RCV000350213] Chr7:140924597 [GRCh38]
Chr7:140624397 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.956C>T (p.Ser319Phe) single nucleotide variant RASopathy [RCV003654247]|not provided [RCV000316687] Chr7:140800386 [GRCh38]
Chr7:140500186 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1860+3A>G single nucleotide variant not provided [RCV000389266] Chr7:140753272 [GRCh38]
Chr7:140453072 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2029G>A (p.Asp677Asn) single nucleotide variant RASopathy [RCV003539873]|not provided [RCV000363862]|not specified [RCV001731553] Chr7:140739910 [GRCh38]
Chr7:140439710 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1189G>T (p.Gly397Cys) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813439]|not provided [RCV000297032] Chr7:140783146 [GRCh38]
Chr7:140482946 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1168G>A (p.Gly390Ser) single nucleotide variant RASopathy [RCV002519042]|not provided [RCV000298158] Chr7:140787557 [GRCh38]
Chr7:140487357 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1027C>T (p.Pro343Ser) single nucleotide variant RASopathy [RCV003654409]|not provided [RCV000589715] Chr7:140794421 [GRCh38]
Chr7:140494221 [GRCh37]
Chr7:7q34		 conflicting interpretations of pathogenicity|uncertain significance
NM_004333.6(BRAF):c.1759G>A (p.Asp587Asn) single nucleotide variant Gallbladder cancer [RCV001374391] Chr7:140753376 [GRCh38]
Chr7:140453176 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.517T>C (p.Cys173Arg) single nucleotide variant not provided [RCV000489641] Chr7:140808983 [GRCh38]
Chr7:140508783 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2127+282dup duplication not provided [RCV001566510] Chr7:140739519..140739520 [GRCh38]
Chr7:140439319..140439320 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT indel Cardio-facio-cutaneous syndrome [RCV000294893]|Noonan syndrome [RCV000404060]|Noonan syndrome with multiple lentigines [RCV000349776] Chr7:140734786..140734797 [GRCh38]
Chr7:140434586..140434597 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.469G>A (p.Val157Ile) single nucleotide variant LEOPARD syndrome 3 [RCV001159563]|Noonan syndrome 7 [RCV001159562]|RASopathy [RCV001854118]|not specified [RCV000597251] Chr7:140834644 [GRCh38]
Chr7:140534444 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.5(BRAF):c.78G>A (p.Glu26=) single nucleotide variant Rasopathy [RCV000522591] Chr7:140924626 [GRCh38]
Chr7:140624426 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.2128-6_2128-5dup duplication RASopathy [RCV000531339] Chr7:140734774..140734775 [GRCh38]
Chr7:140434574..140434575 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.711+15A>G single nucleotide variant not specified [RCV000600930] Chr7:140807945 [GRCh38]
Chr7:140507745 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.504+19C>T single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002498955]|RASopathy [RCV002064256]|not specified [RCV000606141] Chr7:140834590 [GRCh38]
Chr7:140534390 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1207C>G (p.Pro403Ala) single nucleotide variant RASopathy [RCV001345452]|not provided [RCV000681080]|not specified [RCV000591877] Chr7:140783128 [GRCh38]
Chr7:140482928 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.1488A>C (p.Gln496His) single nucleotide variant not specified [RCV000591879] Chr7:140778020 [GRCh38]
Chr7:140477820 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.206G>C (p.Gly69Ala) single nucleotide variant RASopathy [RCV001860135]|not provided [RCV000587988] Chr7:140850145 [GRCh38]
Chr7:140549945 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.-9G>T single nucleotide variant not provided [RCV000599114] Chr7:140924712 [GRCh38]
Chr7:140624512 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2064C>T (p.Ala688=) single nucleotide variant not specified [RCV000586588] Chr7:140739875 [GRCh38]
Chr7:140439675 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.523G>T (p.Val175Phe) single nucleotide variant not provided [RCV000590227] Chr7:140808977 [GRCh38]
Chr7:140508777 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1031A>T (p.Gln344Leu) single nucleotide variant not specified [RCV000414586] Chr7:140794417 [GRCh38]
Chr7:140494217 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1694+2T>C single nucleotide variant not provided [RCV000414598] Chr7:140776910 [GRCh38]
Chr7:140476710 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.609-315_609-313dup duplication not provided [RCV001564673] Chr7:140808351..140808352 [GRCh38]
Chr7:140508151..140508152 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1317A>G (p.Lys439=) single nucleotide variant RASopathy [RCV002535414]|not provided [RCV000735052] Chr7:140781691 [GRCh38]
Chr7:140481491 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1765A>C (p.Thr589Pro) single nucleotide variant not provided [RCV000413430] Chr7:140753370 [GRCh38]
Chr7:140453170 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000824916]|Melanoma [RCV000429423]|Prostate cancer, hereditary, 1 [RCV002291625]|RASopathy [RCV000694211]|not provided [RCV000413557] Chr7:140781618 [GRCh38]
Chr7:140481418 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.398C>T (p.Ser133Leu) single nucleotide variant not specified [RCV000413297] Chr7:140834715 [GRCh38]
Chr7:140534515 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000764692]|Cardiofaciocutaneous syndrome 1 [RCV001329217]|RASopathy [RCV000654945]|not provided [RCV001718803]|not specified [RCV000413361] Chr7:140834676 [GRCh38]
Chr7:140534476 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000764691]|Noonan syndrome and Noonan-related syndrome [RCV001813468]|RASopathy [RCV001865287]|not specified [RCV000413389] Chr7:140787559 [GRCh38]
Chr7:140487359 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1726G>T (p.Asp576Tyr) single nucleotide variant not provided [RCV000413723] Chr7:140754202 [GRCh38]
Chr7:140454002 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1574T>G (p.Leu525Arg) single nucleotide variant Malignant lymphoma, large B-cell, diffuse [RCV003448979]|not provided [RCV000413915] Chr7:140777032 [GRCh38]
Chr7:140476832 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.826G>C (p.Val276Leu) single nucleotide variant not provided [RCV000414050]|not specified [RCV001290531] Chr7:140801446 [GRCh38]
Chr7:140501246 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
NM_004333.6(BRAF):c.1776A>G (p.Ile592Met) single nucleotide variant Neoplasm [RCV000437742] Chr7:140753359 [GRCh38]
Chr7:140453159 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1141-12A>G single nucleotide variant RASopathy [RCV002521518]|not provided [RCV000417548]|not specified [RCV003479111] Chr7:140787596 [GRCh38]
Chr7:140487396 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) single nucleotide variant Adrenal cortex carcinoma [RCV000420810]|B-cell chronic lymphocytic leukemia [RCV000423137]|Lung adenocarcinoma [RCV000433859]|Malignant melanoma of skin [RCV000428467]|Melanoma [RCV000435646]|Multiple myeloma [RCV000430625]|Neoplasm of brain [RCV000441525]|Neoplasm of the large intestine [RCV000428250]|Squamous cell carcinoma of the head and neck [RCV000417560]|Transitional cell carcinoma of the bladder [RCV000441346] Chr7:140753355 [GRCh38]
Chr7:140453155 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1761C>A (p.Asp587Glu) single nucleotide variant Neoplasm [RCV000431213] Chr7:140753374 [GRCh38]
Chr7:140453174 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.2128-4G>T single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813472]|RASopathy [RCV000462846]|not specified [RCV000431310] Chr7:140734774 [GRCh38]
Chr7:140434574 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000824925]|Melanoma [RCV000434803]|Neoplasm of the large intestine [RCV000421094]|RASopathy [RCV000796335] Chr7:140753354 [GRCh38]
Chr7:140453154 [GRCh37]
Chr7:7q34		 pathogenic|uncertain significance
NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) single nucleotide variant Lung adenocarcinoma [RCV000434755]|Malignant melanoma of skin [RCV000442274]|Melanoma [RCV000443232]|Multiple myeloma [RCV000431475]|Neoplasm of the large intestine [RCV000424079]|Noonan syndrome 7 [RCV003128083]|RASopathy [RCV001861476]|Squamous cell carcinoma of the head and neck [RCV000427285]|Squamous cell lung carcinoma [RCV000437081] Chr7:140781611 [GRCh38]
Chr7:140481411 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1774A>G (p.Ile592Val) single nucleotide variant Melanoma [RCV000427646] Chr7:140753361 [GRCh38]
Chr7:140453161 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1415A>G (p.Tyr472Cys) single nucleotide variant Lung carcinoma [RCV000438175]|Prostate cancer, hereditary, 1 [RCV002293242] Chr7:140781593 [GRCh38]
Chr7:140481393 [GRCh37]
Chr7:7q34		 pathogenic|uncertain significance
NM_004333.6(BRAF):c.1799T>C (p.Val600Ala) single nucleotide variant Melanoma [RCV000445347] Chr7:140753336 [GRCh38]
Chr7:140453136 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1813_1814delinsTT (p.Ser605Phe) indel Melanoma [RCV000419349] Chr7:140753321..140753322 [GRCh38]
Chr7:140453121..140453122 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1405_1406delinsTC (p.Gly469Ser) indel Melanoma [RCV000421677] Chr7:140781602..140781603 [GRCh38]
Chr7:140481402..140481403 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys) indel Melanoma [RCV000422502]|not provided [RCV001355295] Chr7:140753336..140753337 [GRCh38]
Chr7:140453136..140453137 [GRCh37]
Chr7:7q34		 pathogenic|drug response|uncertain significance
NM_004333.6(BRAF):c.1799_1800delinsAT (p.Val600Asp) indel Melanoma [RCV000423512] Chr7:140753335..140753336 [GRCh38]
Chr7:140453135..140453136 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.1799_1800delinsAA (p.Val600Glu) indel Colonic neoplasm [RCV000424781]|Melanoma [RCV000442563] Chr7:140753335..140753336 [GRCh38]
Chr7:140453135..140453136 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1779_1780delinsGA (p.Asp594Asn) indel Gallbladder cancer [RCV001374449]|Melanoma [RCV000427497] Chr7:140753355..140753356 [GRCh38]
Chr7:140453155..140453156 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1405_1406delinsTT (p.Gly469Leu) indel Lung carcinoma [RCV000429405] Chr7:140781602..140781603 [GRCh38]
Chr7:140481402..140481403 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.1798_1799delinsAG (p.Val600Arg) indel Melanoma [RCV000440177] Chr7:140753336..140753337 [GRCh38]
Chr7:140453136..140453137 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.1789_1790delinsTC (p.Leu597Ser) indel Melanoma [RCV000443303] Chr7:140753345..140753346 [GRCh38]
Chr7:140453145..140453146 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.241-8T>A single nucleotide variant not specified [RCV000424466] Chr7:140834880 [GRCh38]
Chr7:140534680 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1760A>C (p.Asp587Ala) single nucleotide variant Neoplasm [RCV000434950] Chr7:140753375 [GRCh38]
Chr7:140453175 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1782T>A (p.Asp594Glu) single nucleotide variant Melanoma [RCV000438728] Chr7:140753353 [GRCh38]
Chr7:140453153 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000824926]|Melanoma [RCV000428481] Chr7:140753353 [GRCh38]
Chr7:140453153 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1860+16A>G single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002502502]|RASopathy [RCV002062305]|not provided [RCV000418850]|not specified [RCV001293598] Chr7:140753259 [GRCh38]
Chr7:140453059 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1314+12T>C single nucleotide variant RASopathy [RCV002062449]|not specified [RCV000421554] Chr7:140783009 [GRCh38]
Chr7:140482809 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1314+17T>C single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002488975]|RASopathy [RCV002063626]|not provided [RCV000424958] Chr7:140783004 [GRCh38]
Chr7:140482804 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.608+14G>A single nucleotide variant RASopathy [RCV002521517]|not specified [RCV000428501] Chr7:140808878 [GRCh38]
Chr7:140508678 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1330C>T (p.Arg444Trp) single nucleotide variant Melanoma [RCV000435724] Chr7:140781678 [GRCh38]
Chr7:140481478 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1694+8C>T single nucleotide variant not provided [RCV000442978] Chr7:140776904 [GRCh38]
Chr7:140476704 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1802A>G (p.Lys601Arg) single nucleotide variant Melanoma [RCV000432349] Chr7:140753333 [GRCh38]
Chr7:140453133 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1801_1803del (p.Lys601del) deletion Melanoma [RCV000432391] Chr7:140753332..140753334 [GRCh38]
Chr7:140453132..140453134 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1787G>A (p.Gly596Asp) single nucleotide variant Glioblastoma [RCV000425257]|Lung adenocarcinoma [RCV000435960]|Multiple myeloma [RCV000432706]|Transitional cell carcinoma of the bladder [RCV000442687] Chr7:140753348 [GRCh38]
Chr7:140453148 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1433-7C>G single nucleotide variant not provided [RCV000439464] Chr7:140778082 [GRCh38]
Chr7:140477882 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1798G>C (p.Val600Leu) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000856751]|Melanoma [RCV000422356] Chr7:140753337 [GRCh38]
Chr7:140453137 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.2224G>A (p.Asp742Asn) single nucleotide variant not specified [RCV000426001] Chr7:140734674 [GRCh38]
Chr7:140434474 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.567T>C (p.Gly189=) single nucleotide variant RASopathy [RCV002522601]|not provided [RCV000432884] Chr7:140808933 [GRCh38]
Chr7:140508733 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala) single nucleotide variant Lung adenocarcinoma [RCV000418222]|Malignant melanoma of skin [RCV000427554]|Melanoma [RCV000438268]|Multiple myeloma [RCV000444041]|Neoplasm of the large intestine [RCV000435402]|Squamous cell carcinoma of the head and neck [RCV000424689]|Squamous cell lung carcinoma [RCV000444553] Chr7:140781611 [GRCh38]
Chr7:140481411 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg) single nucleotide variant Glioblastoma [RCV000439396]|Lung adenocarcinoma [RCV000418853]|Melanoma [RCV000421748]|Multiple myeloma [RCV000429106]|Neoplasm of the large intestine [RCV000429746]|Transitional cell carcinoma of the bladder [RCV000436498] Chr7:140753349 [GRCh38]
Chr7:140453149 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr) single nucleotide variant Lung adenocarcinoma [RCV000422334]|Malignant melanoma of skin [RCV000429764]|Multiple myeloma [RCV000440423]|Neoplasm of the large intestine [RCV000430791]|Ovarian serous cystadenocarcinoma [RCV000440655]|Papillary renal cell carcinoma, sporadic [RCV000419907]|not provided [RCV001355069] Chr7:140753393 [GRCh38]
Chr7:140453193 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) single nucleotide variant B-cell chronic lymphocytic leukemia [RCV000421086]|Gastric adenocarcinoma [RCV000431157]|Lung adenocarcinoma [RCV000441196]|Malignant melanoma of skin [RCV000420022]|Malignant neoplasm of body of uterus [RCV000441430]|Melanoma [RCV000438949]|Prostate adenocarcinoma [RCV000421724]|RASopathy [RCV001368054]|Thyroid tumor [RCV000428269] Chr7:140753332 [GRCh38]
Chr7:140453132 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.855A>G (p.Gln285=) single nucleotide variant BRAF-related condition [RCV003897854]|Cardiovascular phenotype [RCV002411307]|RASopathy [RCV001851041]|not specified [RCV000420121] Chr7:140801417 [GRCh38]
Chr7:140501217 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.1814G>A (p.Ser605Asn) single nucleotide variant Melanoma [RCV000437021] Chr7:140753321 [GRCh38]
Chr7:140453121 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1784T>C (p.Phe595Ser) single nucleotide variant Melanoma [RCV000444314] Chr7:140753351 [GRCh38]
Chr7:140453151 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1518-7T>C single nucleotide variant RASopathy [RCV003654265]|not specified [RCV000423352] Chr7:140777095 [GRCh38]
Chr7:140476895 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1803A>T (p.Lys601Asn) single nucleotide variant Melanoma [RCV000430483] Chr7:140753332 [GRCh38]
Chr7:140453132 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1786G>A (p.Gly596Ser) single nucleotide variant Glioblastoma [RCV000423119]|Lung adenocarcinoma [RCV000433824]|Multiple myeloma [RCV000422893]|Transitional cell carcinoma of the bladder [RCV000442552] Chr7:140753349 [GRCh38]
Chr7:140453149 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1781A>C (p.Asp594Ala) single nucleotide variant Melanoma [RCV000420477] Chr7:140753354 [GRCh38]
Chr7:140453154 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1761C>G (p.Asp587Glu) single nucleotide variant Neoplasm [RCV000420521] Chr7:140753374 [GRCh38]
Chr7:140453174 [GRCh37]
Chr7:7q34		 likely pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7q34(chr7:140616125-140740863)x3 copy number gain See cases [RCV000448327] Chr7:140616125..140740863 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.976A>G (p.Ile326Val) single nucleotide variant RASopathy [RCV000462938]|not provided [RCV000589220] Chr7:140800366 [GRCh38]
Chr7:140500166 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.83GCGCCG[5] (p.28GA[5]) microsatellite BRAF-related condition [RCV003902654]|RASopathy [RCV000459657]|not provided [RCV001556398] Chr7:140924603..140924604 [GRCh38]
Chr7:140624403..140624404 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.69G>T (p.Met23Ile) single nucleotide variant not provided [RCV000480411] Chr7:140924635 [GRCh38]
Chr7:140624435 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.533G>A (p.Arg178Gln) single nucleotide variant RASopathy [RCV000467891] Chr7:140808967 [GRCh38]
Chr7:140508767 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.723G>A (p.Thr241=) single nucleotide variant Cardiovascular phenotype [RCV002374876]|RASopathy [RCV000475563]|not provided [RCV003424040]|not specified [RCV000612568] Chr7:140801549 [GRCh38]
Chr7:140501349 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.2196C>G (p.Ser732=) single nucleotide variant BRAF-related condition [RCV003932773]|Cardiovascular phenotype [RCV002431383]|LEOPARD syndrome 3 [RCV001164394]|Noonan syndrome 7 [RCV001159453]|RASopathy [RCV001468343]|not provided [RCV000475603]|not specified [RCV000825118] Chr7:140734702 [GRCh38]
Chr7:140434502 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.2264_2265delinsGT (p.Ile755Ser) indel not provided [RCV000486116] Chr7:140734633..140734634 [GRCh38]
Chr7:140434433..140434434 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.977T>C (p.Ile326Thr) single nucleotide variant Noonan syndrome [RCV001261042]|RASopathy [RCV001851275]|not provided [RCV000482168] Chr7:140800365 [GRCh38]
Chr7:140500165 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.138+3G>A single nucleotide variant RASopathy [RCV000553842] Chr7:140924563 [GRCh38]
Chr7:140624363 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1742-10T>C single nucleotide variant RASopathy [RCV001506587] Chr7:140753403 [GRCh38]
Chr7:140453203 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_004333.6(BRAF):c.876C>T (p.Ser292=) single nucleotide variant RASopathy [RCV003654410]|not provided [RCV000498503] Chr7:140800466 [GRCh38]
Chr7:140500266 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
GRCh37/hg19 7q34(chr7:140386035-140543509)x3 copy number gain See cases [RCV000511884] Chr7:140386035..140543509 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_004333.6(BRAF):c.254A>G (p.Tyr85Cys) single nucleotide variant Noonan syndrome 7 [RCV002291648]|RASopathy [RCV002524027]|not provided [RCV000588426] Chr7:140834859 [GRCh38]
Chr7:140534659 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_004333.6(BRAF):c.2128-4_2129del deletion Hypertrophic cardiomyopathy 4 [RCV000495877] Chr7:140734769..140734774 [GRCh38]
Chr7:140434570..140434575 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.130C>A (p.Pro44Thr) single nucleotide variant Cardiovascular phenotype [RCV003278237] Chr7:140924574 [GRCh38]
Chr7:140624374 [GRCh37]
Chr7:7q34		 uncertain significance
Single allele duplication not specified [RCV000597662] Chr7:140624404..140624409 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002468592]|Inborn genetic diseases [RCV000622500]|RASopathy [RCV002531885]|not provided [RCV001532123] Chr7:140777032 [GRCh38]
Chr7:140476832 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
NC_000007.13:g.(?_140434377)_(140534692_?)dup duplication RASopathy [RCV000556434] Chr7:140734577..140834892 [GRCh38]
Chr7:140434377..140534692 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.12G>T (p.Leu4=) single nucleotide variant Cardiovascular phenotype [RCV003306798] Chr7:140924692 [GRCh38]
Chr7:140624492 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1826A>C (p.Gln609Pro) single nucleotide variant Cardiovascular phenotype [RCV003306799] Chr7:140753309 [GRCh38]
Chr7:140453109 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.527C>T (p.Thr176Ile) single nucleotide variant not specified [RCV000612662] Chr7:140808973 [GRCh38]
Chr7:140508773 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.653C>G (p.Thr218Ser) single nucleotide variant not specified [RCV000612869] Chr7:140808018 [GRCh38]
Chr7:140507818 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.675A>G (p.Glu225=) single nucleotide variant Cardiovascular phenotype [RCV003162755]|RASopathy [RCV002066774]|not specified [RCV000616458] Chr7:140807996 [GRCh38]
Chr7:140507796 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.316G>A (p.Gly106Arg) single nucleotide variant LEOPARD syndrome 3 [RCV001159564]|Noonan syndrome 7 [RCV001160943]|RASopathy [RCV000794440]|not specified [RCV000610566] Chr7:140834797 [GRCh38]
Chr7:140534597 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1206C>T (p.Pro402=) single nucleotide variant BRAF-related condition [RCV003983135]|Cardiovascular phenotype [RCV002350415]|RASopathy [RCV002061979]|not specified [RCV000586166] Chr7:140783129 [GRCh38]
Chr7:140482929 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.1157A>G (p.Gln386Arg) single nucleotide variant RASopathy [RCV000538939] Chr7:140787568 [GRCh38]
Chr7:140487368 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1837T>C (p.Leu613=) single nucleotide variant Cardiovascular phenotype [RCV003278238]|RASopathy [RCV003539485] Chr7:140753298 [GRCh38]
Chr7:140453098 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.59A>C (p.Asn20Thr) single nucleotide variant Cardiovascular phenotype [RCV003278239] Chr7:140924645 [GRCh38]
Chr7:140624445 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1023A>G (p.Pro341=) single nucleotide variant Cardiovascular phenotype [RCV002377295]|LEOPARD syndrome 3 [RCV001164496]|Noonan syndrome 7 [RCV001164495]|RASopathy [RCV000918253]|not specified [RCV000608842] Chr7:140794425 [GRCh38]
Chr7:140494225 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.240+6C>T single nucleotide variant RASopathy [RCV001324675]|not provided [RCV003432650]|not specified [RCV000614364] Chr7:140850105 [GRCh38]
Chr7:140549905 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.1196C>T (p.Ser399Phe) single nucleotide variant RASopathy [RCV000654934] Chr7:140783139 [GRCh38]
Chr7:140482939 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.358G>A (p.Val120Ile) single nucleotide variant RASopathy [RCV000654944] Chr7:140834755 [GRCh38]
Chr7:140534555 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002275122]|RASopathy [RCV000654953] Chr7:140783145 [GRCh38]
Chr7:140482945 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2125C>A (p.Gln709Lys) single nucleotide variant RASopathy [RCV000654960] Chr7:140739814 [GRCh38]
Chr7:140439614 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2019C>T (p.Tyr673=) single nucleotide variant RASopathy [RCV000654991] Chr7:140739920 [GRCh38]
Chr7:140439720 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1956A>C (p.Gly652=) single nucleotide variant not specified [RCV000611843] Chr7:140749323 [GRCh38]
Chr7:140449123 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1518-5T>C single nucleotide variant RASopathy [RCV002060619]|not provided [RCV001704818] Chr7:140777093 [GRCh38]
Chr7:140476893 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg) single nucleotide variant Noonan syndrome [RCV000678901]|RASopathy [RCV001861863]|not specified [RCV003403570] Chr7:140783130 [GRCh38]
Chr7:140482930 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) single nucleotide variant Noonan syndrome 7 [RCV000714710] Chr7:140781621 [GRCh38]
Chr7:140481421 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1694+242A>T single nucleotide variant not provided [RCV000680907] Chr7:140776670 [GRCh38]
Chr7:140476470 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.2135C>T (p.Ala712Val) single nucleotide variant not provided [RCV000681053] Chr7:140734763 [GRCh38]
Chr7:140434563 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2191C>T (p.Pro731Ser) single nucleotide variant Noonan syndrome [RCV001261050]|not provided [RCV000681057] Chr7:140734707 [GRCh38]
Chr7:140434507 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.1144T>A (p.Leu382Met) single nucleotide variant RASopathy [RCV001316941]|not provided [RCV000681067] Chr7:140787581 [GRCh38]
Chr7:140487381 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.48G>C (p.Gln16His) single nucleotide variant not provided [RCV000681056] Chr7:140924656 [GRCh38]
Chr7:140624456 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000764689]|RASopathy [RCV003540621]|not provided [RCV000681219] Chr7:140749339 [GRCh38]
Chr7:140449139 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_004333.6(BRAF):c.-24dup duplication not provided [RCV000681011] Chr7:140924726..140924727 [GRCh38]
Chr7:140624526..140624527 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1178-274T>A single nucleotide variant not provided [RCV000681242] Chr7:140783431 [GRCh38]
Chr7:140483231 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1283C>T (p.Ser428Leu) single nucleotide variant not provided [RCV000681294] Chr7:140783052 [GRCh38]
Chr7:140482852 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
NM_004333.6(BRAF):c.1993-298T>C single nucleotide variant not provided [RCV000681304] Chr7:140740244 [GRCh38]
Chr7:140440044 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1694+13C>T single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002493129]|RASopathy [RCV002060868]|not provided [RCV000681315] Chr7:140776899 [GRCh38]
Chr7:140476699 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1742-265C>T single nucleotide variant not provided [RCV000681343] Chr7:140753658 [GRCh38]
Chr7:140453458 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1177+269G>A single nucleotide variant not provided [RCV000681345] Chr7:140787279 [GRCh38]
Chr7:140487079 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.2127+297A>C single nucleotide variant not provided [RCV000681398] Chr7:140739515 [GRCh38]
Chr7:140439315 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.37G>A (p.Glu13Lys) single nucleotide variant not provided [RCV000680639] Chr7:140924667 [GRCh38]
Chr7:140624467 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.861T>C (p.Asp287=) single nucleotide variant not provided [RCV000680621] Chr7:140800481 [GRCh38]
Chr7:140500281 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.504+142G>A single nucleotide variant not provided [RCV000680653] Chr7:140834467 [GRCh38]
Chr7:140534267 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1517+185G>A single nucleotide variant not provided [RCV000680729] Chr7:140777806 [GRCh38]
Chr7:140477606 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.4(BRAF):c.-295G>A single nucleotide variant not provided [RCV000680738] Chr7:140924998 [GRCh38]
Chr7:140624798 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.240+72A>G single nucleotide variant not provided [RCV000680744] Chr7:140850039 [GRCh38]
Chr7:140549839 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1178-104C>G single nucleotide variant not provided [RCV000680740] Chr7:140783261 [GRCh38]
Chr7:140483061 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1518-118T>A single nucleotide variant not provided [RCV000680651] Chr7:140777206 [GRCh38]
Chr7:140477006 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1177+146G>A single nucleotide variant not provided [RCV000680654] Chr7:140787402 [GRCh38]
Chr7:140487202 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.505-172A>C single nucleotide variant not provided [RCV000680727] Chr7:140809167 [GRCh38]
Chr7:140508967 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.68T>A (p.Met23Lys) single nucleotide variant RASopathy [RCV000702844]|not specified [RCV000779849] Chr7:140924636 [GRCh38]
Chr7:140624436 [GRCh37]
Chr7:7q34		 benign|likely benign|uncertain significance
NM_004333.6(BRAF):c.1505_1507dup (p.Val502dup) duplication RASopathy [RCV000697258] Chr7:140778000..140778001 [GRCh38]
Chr7:140477800..140477801 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.39G>C (p.Glu13Asp) single nucleotide variant RASopathy [RCV000692616]|not specified [RCV001174649] Chr7:140924665 [GRCh38]
Chr7:140624465 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2279A>G (p.Tyr760Cys) single nucleotide variant RASopathy [RCV000688247] Chr7:140734619 [GRCh38]
Chr7:140434419 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1643T>C (p.Phe548Ser) single nucleotide variant RASopathy [RCV000703470] Chr7:140776963 [GRCh38]
Chr7:140476763 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1388_1408dup (p.Ile463_Gly469dup) duplication RASopathy [RCV000736073]|not provided [RCV001803961] Chr7:140781599..140781600 [GRCh38]
Chr7:140481399..140481400 [GRCh37]
Chr7:7q34		 likely pathogenic|not provided
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
NM_004333.6(BRAF):c.2128-2_2128del deletion not provided [RCV000723163] Chr7:140734770..140734772 [GRCh38]
Chr7:140434570..140434572 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.608+19G>A single nucleotide variant RASopathy [RCV002072066]|not specified [RCV001553612] Chr7:140808873 [GRCh38]
Chr7:140508673 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.141G>A (p.Val47=) single nucleotide variant not provided [RCV001532125] Chr7:140850210 [GRCh38]
Chr7:140550010 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
Single allele complex Renal transitional cell carcinoma [RCV000754611] Chr7:129367205..140482957 [GRCh37]
Chr7:7q32.2-34		 likely pathogenic
GRCh37/hg19 7q34-35(chr7:139623170-143710268)x3 copy number gain not provided [RCV000747069] Chr7:139623170..143710268 [GRCh37]
Chr7:7q34-35		 benign
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_004333.6(BRAF):c.2128-280T>C single nucleotide variant not provided [RCV001540324] Chr7:140735050 [GRCh38]
Chr7:140434850 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1070T>C (p.Phe357Ser) single nucleotide variant not provided [RCV001532124] Chr7:140794378 [GRCh38]
Chr7:140494178 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1141-110G>A single nucleotide variant not provided [RCV001680252] Chr7:140787694 [GRCh38]
Chr7:140487494 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1993-11T>C single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002506678]|RASopathy [RCV002072221]|not provided [RCV001571782] Chr7:140739957 [GRCh38]
Chr7:140439757 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.609-315dup duplication not provided [RCV001567662] Chr7:140808351..140808352 [GRCh38]
Chr7:140508151..140508152 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1314+153G>C single nucleotide variant not provided [RCV001575543] Chr7:140782868 [GRCh38]
Chr7:140482668 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.241-149A>G single nucleotide variant not provided [RCV001571552] Chr7:140835021 [GRCh38]
Chr7:140534821 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.973T>G (p.Ser325Ala) single nucleotide variant not provided [RCV003314866] Chr7:140800369 [GRCh38]
Chr7:140500169 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2128-210A>G single nucleotide variant not provided [RCV001565993] Chr7:140734980 [GRCh38]
Chr7:140434780 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.901C>T (p.Pro301Ser) single nucleotide variant RASopathy [RCV002032572]|not provided [RCV001547853] Chr7:140800441 [GRCh38]
Chr7:140500241 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.861-170A>T single nucleotide variant not provided [RCV001575042] Chr7:140800651 [GRCh38]
Chr7:140500451 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.609-289G>T single nucleotide variant not provided [RCV001679072] Chr7:140808351 [GRCh38]
Chr7:140508151 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.862T>C (p.Leu288=) single nucleotide variant not provided [RCV000951469] Chr7:140800480 [GRCh38]
Chr7:140500280 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.687T>C (p.Asn229=) single nucleotide variant not provided [RCV000944046] Chr7:140807984 [GRCh38]
Chr7:140507784 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2128-16delinsTCT indel not specified [RCV001280678] Chr7:140734786 [GRCh38]
Chr7:140434586 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.825A>T (p.Glu275Asp) single nucleotide variant RASopathy [RCV001042765] Chr7:140801447 [GRCh38]
Chr7:140501247 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1495A>C (p.Lys499Gln) single nucleotide variant Costello syndrome [RCV000824922] Chr7:140778013 [GRCh38]
Chr7:140477813 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2082A>G (p.Ala694=) single nucleotide variant Cardiovascular phenotype [RCV002422671]|RASopathy [RCV001402745]|not specified [RCV000780967] Chr7:140739857 [GRCh38]
Chr7:140439657 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.951C>A (p.Ser317=) single nucleotide variant BRAF-related condition [RCV003965578]|RASopathy [RCV002067375]|not provided [RCV001815435]|not specified [RCV000780968] Chr7:140800391 [GRCh38]
Chr7:140500191 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1178-10A>G single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813552]|RASopathy [RCV002068540]|not specified [RCV000780970] Chr7:140783167 [GRCh38]
Chr7:140482967 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.995C>T (p.Thr332Ile) single nucleotide variant Noonan syndrome [RCV001543118]|RASopathy [RCV001856191]|not specified [RCV000780969] Chr7:140794453 [GRCh38]
Chr7:140494253 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.1517+9G>C single nucleotide variant RASopathy [RCV001430007] Chr7:140777982 [GRCh38]
Chr7:140477782 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.102G>C (p.Ala34=) single nucleotide variant RASopathy [RCV001407446] Chr7:140924602 [GRCh38]
Chr7:140624402 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1278G>A (p.Arg426=) single nucleotide variant not provided [RCV000915517] Chr7:140783057 [GRCh38]
Chr7:140482857 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2128-27_2128-7del deletion RASopathy [RCV001458592] Chr7:140734777..140734797 [GRCh38]
Chr7:140434577..140434597 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.363A>G (p.Thr121=) single nucleotide variant RASopathy [RCV001400236] Chr7:140834750 [GRCh38]
Chr7:140534550 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.105C>G (p.Ala35=) single nucleotide variant RASopathy [RCV001493051] Chr7:140924599 [GRCh38]
Chr7:140624399 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_004333.6(BRAF):c.357C>T (p.Thr119=) single nucleotide variant BRAF-related condition [RCV003948136]|Cardiovascular phenotype [RCV002460116]|RASopathy [RCV002538991]|not provided [RCV000867869] Chr7:140834756 [GRCh38]
Chr7:140534556 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1906C>T (p.Gln636Ter) single nucleotide variant Cerebral arteriovenous malformation [RCV000860021] Chr7:140749373 [GRCh38]
Chr7:140449173 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.711+4T>C single nucleotide variant not specified [RCV000779846] Chr7:140807956 [GRCh38]
Chr7:140507756 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.281A>G (p.Gln94Arg) single nucleotide variant not specified [RCV000779850] Chr7:140834832 [GRCh38]
Chr7:140534632 [GRCh37]
Chr7:7q34		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_004333.6(BRAF):c.21C>A (p.Gly7=) single nucleotide variant RASopathy [RCV001487189] Chr7:140924683 [GRCh38]
Chr7:140624483 [GRCh37]
Chr7:7q34		 likely benign
NC_000007.13:g.(?_140434387)_(140534682_?)dup duplication RASopathy [RCV000820580] Chr7:140734587..140834882 [GRCh38]
Chr7:140434387..140534682 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1448A>C (p.Lys483Thr) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000824920]|RASopathy [RCV001856262] Chr7:140778060 [GRCh38]
Chr7:140477860 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.2134G>A (p.Ala712Thr) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000987983]|RASopathy [RCV002549695]|not provided [RCV003329355] Chr7:140734764 [GRCh38]
Chr7:140434564 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1441_1442delinsAA (p.Ala481Lys) indel not provided [RCV000788351] Chr7:140778066..140778067 [GRCh38]
Chr7:140477866..140477867 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1096G>C (p.Ala366Pro) single nucleotide variant RASopathy [RCV000799408] Chr7:140794352 [GRCh38]
Chr7:140494152 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1457_1471del (p.Asn486_Pro490del) deletion Dabrafenib response [RCV000824811] Chr7:140778037..140778051 [GRCh38]
Chr7:140477837..140477851 [GRCh37]
Chr7:7q34		 drug response
NM_004333.6(BRAF):c.1406_1411del (p.Gly469_Thr470del) deletion Cardio-facio-cutaneous syndrome [RCV000824918] Chr7:140781597..140781602 [GRCh38]
Chr7:140481397..140481402 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1408A>C (p.Thr470Pro) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000824919] Chr7:140781600 [GRCh38]
Chr7:140481400 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.101C>T (p.Ala34Val) single nucleotide variant Noonan syndrome [RCV000824931] Chr7:140924603 [GRCh38]
Chr7:140624403 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2276G>A (p.Gly759Glu) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000987982] Chr7:140734622 [GRCh38]
Chr7:140434422 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.644C>T (p.Ser215Phe) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000987987] Chr7:140808027 [GRCh38]
Chr7:140507827 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_001378475.1(BRAF):c.240+15245G>A single nucleotide variant RASopathy [RCV001043159] Chr7:140834866 [GRCh38]
Chr7:140534666 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.89G>A (p.Gly30Asp) single nucleotide variant Noonan syndrome with multiple lentigines [RCV000824930]|RASopathy [RCV001307950] Chr7:140924615 [GRCh38]
Chr7:140624415 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.1592G>C (p.Trp531Ser) single nucleotide variant Noonan syndrome 7 [RCV000824993] Chr7:140777014 [GRCh38]
Chr7:140476814 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.411T>G (p.Val137=) single nucleotide variant RASopathy [RCV003655323] Chr7:140834702 [GRCh38]
Chr7:140534502 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_004333.6(BRAF):c.1750C>T (p.Leu584Phe) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000987984]|not provided [RCV002280145] Chr7:140753385 [GRCh38]
Chr7:140453185 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.779G>A (p.Arg260His) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000987986]|RASopathy [RCV002549696]|not provided [RCV002223256] Chr7:140801493 [GRCh38]
Chr7:140501293 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002491472]|LEOPARD syndrome 3 [RCV001162449]|Noonan syndrome 7 [RCV001162450]|RASopathy [RCV002032500] Chr7:140783155 [GRCh38]
Chr7:140482955 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
NM_004333.6(BRAF):c.-12C>T single nucleotide variant LEOPARD syndrome 3 [RCV001162545]|Noonan syndrome 7 [RCV001162546] Chr7:140924715 [GRCh38]
Chr7:140624515 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.980+13T>C single nucleotide variant not specified [RCV001201193] Chr7:140800349 [GRCh38]
Chr7:140500149 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.505-12A>G single nucleotide variant RASopathy [RCV002069218]|not provided [RCV001712884]|not specified [RCV001193262] Chr7:140809007 [GRCh38]
Chr7:140508807 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.2128-27_2128-18del microsatellite RASopathy [RCV002069240]|not provided [RCV001534186]|not specified [RCV001193861] Chr7:140734788..140734797 [GRCh38]
Chr7:140434588..140434597 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1518-7T>G single nucleotide variant not specified [RCV001193862] Chr7:140777095 [GRCh38]
Chr7:140476895 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.61G>C (p.Gly21Arg) single nucleotide variant RASopathy [RCV001215954]|not provided [RCV003433083] Chr7:140924643 [GRCh38]
Chr7:140624443 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1870G>A (p.Val624Ile) single nucleotide variant RASopathy [RCV001234562] Chr7:140749409 [GRCh38]
Chr7:140449209 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1992+3A>G single nucleotide variant RASopathy [RCV001218090]|not provided [RCV003117851] Chr7:140749284 [GRCh38]
Chr7:140449084 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.67A>G (p.Met23Val) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV001196110]|RASopathy [RCV002560215] Chr7:140924637 [GRCh38]
Chr7:140624437 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.712-221T>C single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV001198777] Chr7:140801781 [GRCh38]
Chr7:140501581 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.28G>A (p.Gly10Ser) single nucleotide variant RASopathy [RCV001202388] Chr7:140924676 [GRCh38]
Chr7:140624476 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1085G>A (p.Arg362Gln) single nucleotide variant not provided [RCV003318264] Chr7:140794363 [GRCh38]
Chr7:140494163 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.139-16T>C single nucleotide variant RASopathy [RCV002561017]|not specified [RCV001193860] Chr7:140850228 [GRCh38]
Chr7:140550028 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.609-13C>G single nucleotide variant RASopathy [RCV003105019] Chr7:140808075 [GRCh38]
Chr7:140507875 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1742-29A>G single nucleotide variant not provided [RCV001570399] Chr7:140753422 [GRCh38]
Chr7:140453222 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1695-90T>A single nucleotide variant not provided [RCV001658554] Chr7:140754323 [GRCh38]
Chr7:140454123 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.504+76A>G single nucleotide variant not provided [RCV001555010] Chr7:140834533 [GRCh38]
Chr7:140534333 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1178-271T>C single nucleotide variant not provided [RCV001555211] Chr7:140783428 [GRCh38]
Chr7:140483228 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.712-61G>A single nucleotide variant not provided [RCV001717064] Chr7:140801621 [GRCh38]
Chr7:140501421 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.981-42C>T single nucleotide variant not provided [RCV001608522] Chr7:140794509 [GRCh38]
Chr7:140494309 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1993-243del deletion not provided [RCV001723233] Chr7:140740189 [GRCh38]
Chr7:140439989 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1177+158C>T single nucleotide variant not provided [RCV001561824] Chr7:140787390 [GRCh38]
Chr7:140487190 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1860+108A>G single nucleotide variant not provided [RCV001663091] Chr7:140753167 [GRCh38]
Chr7:140452967 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1518-117dup duplication not provided [RCV001569554] Chr7:140777193..140777194 [GRCh38]
Chr7:140476993..140476994 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2127+292del deletion not provided [RCV001693697] Chr7:140739520 [GRCh38]
Chr7:140439320 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.505-292G>A single nucleotide variant not provided [RCV001584724] Chr7:140809287 [GRCh38]
Chr7:140509087 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.861-54A>G single nucleotide variant not provided [RCV001714406] Chr7:140800535 [GRCh38]
Chr7:140500335 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.2125C>G (p.Gln709Glu) single nucleotide variant not provided [RCV001581451] Chr7:140739814 [GRCh38]
Chr7:140439614 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.1518-282T>G single nucleotide variant not provided [RCV001570292] Chr7:140777370 [GRCh38]
Chr7:140477170 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1596T>C (p.Cys532=) single nucleotide variant not provided [RCV001718050] Chr7:140777010 [GRCh38]
Chr7:140476810 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.2128-15T>C single nucleotide variant RASopathy [RCV003655336]|not provided [RCV001563317] Chr7:140734785 [GRCh38]
Chr7:140434585 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.241-30G>T single nucleotide variant not provided [RCV001687697] Chr7:140834902 [GRCh38]
Chr7:140534702 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.2127+206A>G single nucleotide variant not provided [RCV001567228] Chr7:140739606 [GRCh38]
Chr7:140439406 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.957C>T (p.Ser319=) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813569]|RASopathy [RCV002066449] Chr7:140800385 [GRCh38]
Chr7:140500185 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1205C>A (p.Pro402His) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002501183]|Hypertrophic cardiomyopathy [RCV000852578]|Noonan syndrome [RCV001261043]|Noonan syndrome and Noonan-related syndrome [RCV001813554]|RASopathy [RCV001858510]|not provided [RCV003141868] Chr7:140783130 [GRCh38]
Chr7:140482930 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.822A>G (p.Thr274=) single nucleotide variant RASopathy [RCV001430121] Chr7:140801450 [GRCh38]
Chr7:140501250 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.738A>G (p.Ala246=) single nucleotide variant RASopathy [RCV002542232] Chr7:140801534 [GRCh38]
Chr7:140501334 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1206C>A (p.Pro402=) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002507527]|Cardiovascular phenotype [RCV002346019]|RASopathy [RCV000874331]|not provided [RCV001593099] Chr7:140783129 [GRCh38]
Chr7:140482929 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2128-16_2128-6del microsatellite not specified [RCV001174988] Chr7:140734776..140734786 [GRCh38]
Chr7:140434576..140434586 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.*203A>G single nucleotide variant LEOPARD syndrome 3 [RCV001162349]|Noonan syndrome 7 [RCV001162350] Chr7:140734394 [GRCh38]
Chr7:140434194 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.*143A>G single nucleotide variant LEOPARD syndrome 3 [RCV001162352]|Noonan syndrome 7 [RCV001162351] Chr7:140734454 [GRCh38]
Chr7:140434254 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1939T>C (p.Tyr647His) single nucleotide variant not provided [RCV001200191] Chr7:140749340 [GRCh38]
Chr7:140449140 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.708C>A (p.Asn236Lys) single nucleotide variant RASopathy [RCV001378043]|not specified [RCV001193257] Chr7:140807963 [GRCh38]
Chr7:140507763 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance
NC_000007.14:g.(?_140734587)_(140924713_?)dup duplication RASopathy [RCV001033426] Chr7:140434387..140624513 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1992+8T>C single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813577]|RASopathy [RCV002069217]|not specified [RCV001193259] Chr7:140749279 [GRCh38]
Chr7:140449079 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.2128-16_2128-7del deletion Noonan syndrome and Noonan-related syndrome [RCV001813578]|RASopathy [RCV001436762]|not provided [RCV003433081]|not specified [RCV001193261] Chr7:140734777..140734786 [GRCh38]
Chr7:140434577..140434586 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1448A>T (p.Lys483Ile) single nucleotide variant not provided [RCV001562017] Chr7:140778060 [GRCh38]
Chr7:140477860 [GRCh37]
Chr7:7q34		 likely pathogenic
NC_000007.14:g.140924965G>A single nucleotide variant not provided [RCV001562702] Chr7:140924965 [GRCh38]
Chr7:140624765 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.609-292_609-290del deletion not provided [RCV001637381] Chr7:140808352..140808354 [GRCh38]
Chr7:140508152..140508154 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1310G>A (p.Arg437Gln) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV000987985]|RASopathy [RCV001858682] Chr7:140783025 [GRCh38]
Chr7:140482825 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.609-294_609-290del deletion not provided [RCV001563167] Chr7:140808352..140808356 [GRCh38]
Chr7:140508152..140508156 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1518-117A>T single nucleotide variant not provided [RCV001558764] Chr7:140777205 [GRCh38]
Chr7:140477005 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.609-290del deletion not provided [RCV001719570] Chr7:140808352 [GRCh38]
Chr7:140508152 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.138+226C>G single nucleotide variant not provided [RCV001555378] Chr7:140924340 [GRCh38]
Chr7:140624140 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
NM_004333.6(BRAF):c.609-293_609-290del deletion not provided [RCV001636534] Chr7:140808352..140808355 [GRCh38]
Chr7:140508152..140508155 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.138+32G>T single nucleotide variant not provided [RCV001685270] Chr7:140924534 [GRCh38]
Chr7:140624334 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.2127+283C>T single nucleotide variant not provided [RCV001672391] Chr7:140739529 [GRCh38]
Chr7:140439329 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.260G>A (p.Ser87Asn) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002506697]|RASopathy [RCV003539395]|not provided [RCV001590546] Chr7:140834853 [GRCh38]
Chr7:140534653 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1140+45A>G single nucleotide variant not provided [RCV001715011] Chr7:140794263 [GRCh38]
Chr7:140494063 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.2128-34T>C single nucleotide variant not provided [RCV001715206] Chr7:140734804 [GRCh38]
Chr7:140434604 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.980+84A>G single nucleotide variant not provided [RCV001661193] Chr7:140800278 [GRCh38]
Chr7:140500078 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.2128-275A>G single nucleotide variant not provided [RCV001653986] Chr7:140735045 [GRCh38]
Chr7:140434845 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1177+224dup duplication not provided [RCV001676729] Chr7:140787300..140787301 [GRCh38]
Chr7:140487100..140487101 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1860+156T>A single nucleotide variant not provided [RCV001588273] Chr7:140753119 [GRCh38]
Chr7:140452919 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2128-26dup duplication BRAF-related condition [RCV003973133]|RASopathy [RCV002559214]|not specified [RCV001192588] Chr7:140734786..140734787 [GRCh38]
Chr7:140434586..140434587 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_001378470.1(BRAF):c.139-15298A>G single nucleotide variant RASopathy [RCV001035100] Chr7:140850170 [GRCh38]
Chr7:140549970 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1621C>T (p.Leu541Phe) single nucleotide variant RASopathy [RCV001071102] Chr7:140776985 [GRCh38]
Chr7:140476785 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1056T>A (p.Asp352Glu) single nucleotide variant LEOPARD syndrome 3 [RCV001162453]|Noonan syndrome 7 [RCV001164494] Chr7:140794392 [GRCh38]
Chr7:140494192 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2045G>A (p.Arg682Gln) single nucleotide variant not specified [RCV001193979] Chr7:140739894 [GRCh38]
Chr7:140439694 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.*124G>C single nucleotide variant LEOPARD syndrome 3 [RCV001162353]|Noonan syndrome 7 [RCV001162354] Chr7:140734473 [GRCh38]
Chr7:140434273 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2128-16del deletion not specified [RCV001193260] Chr7:140734786 [GRCh38]
Chr7:140434586 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1327_1388dup (p.Gly464fs) duplication not specified [RCV001174976] Chr7:140781619..140781620 [GRCh38]
Chr7:140481419..140481420 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1369A>T (p.Ile457Phe) single nucleotide variant RASopathy [RCV002558783]|not specified [RCV001175421] Chr7:140781639 [GRCh38]
Chr7:140481439 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1667T>C (p.Ile556Thr) single nucleotide variant RASopathy [RCV001045317]|not specified [RCV001201320] Chr7:140776939 [GRCh38]
Chr7:140476739 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.1889A>G (p.Lys630Arg) single nucleotide variant not specified [RCV001174970] Chr7:140749390 [GRCh38]
Chr7:140449190 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1569A>G (p.Pro523=) single nucleotide variant LEOPARD syndrome 3 [RCV001160826]|Noonan syndrome 7 [RCV001160827]|RASopathy [RCV002558526] Chr7:140777037 [GRCh38]
Chr7:140476837 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.2128-51_2128-50insTTTCT microsatellite not provided [RCV001613850] Chr7:140734820..140734821 [GRCh38]
Chr7:140434620..140434621 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1993-241A>T single nucleotide variant not provided [RCV001669965] Chr7:140740187 [GRCh38]
Chr7:140439987 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.2127+291_2127+292del deletion not provided [RCV001685981] Chr7:140739520..140739521 [GRCh38]
Chr7:140439320..140439321 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.2128-50T>C single nucleotide variant not provided [RCV001611644] Chr7:140734820 [GRCh38]
Chr7:140434620 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1517+64A>G single nucleotide variant not provided [RCV001645949] Chr7:140777927 [GRCh38]
Chr7:140477727 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.-173G>A single nucleotide variant not provided [RCV001714407] Chr7:140924876 [GRCh38]
Chr7:140624676 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1315-338C>T single nucleotide variant not provided [RCV001583746] Chr7:140782031 [GRCh38]
Chr7:140481831 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1058A>G (p.His353Arg) single nucleotide variant RASopathy [RCV001070490] Chr7:140794390 [GRCh38]
Chr7:140494190 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1177+240_1177+247del deletion not provided [RCV001611787] Chr7:140787301..140787308 [GRCh38]
Chr7:140487101..140487108 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.789_790del (p.Cys264fs) deletion Cardiofaciocutaneous syndrome 1 [RCV001198879] Chr7:140801482..140801483 [GRCh38]
Chr7:140501282..140501283 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1066C>G (p.Gln356Glu) single nucleotide variant LEOPARD syndrome 3 [RCV001162452]|Noonan syndrome 7 [RCV001162451] Chr7:140794382 [GRCh38]
Chr7:140494182 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1959G>T (p.Gln653His) single nucleotide variant RASopathy [RCV001216156] Chr7:140749320 [GRCh38]
Chr7:140449120 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.750T>C (p.Phe250=) single nucleotide variant RASopathy [RCV002560286]|not specified [RCV001201321] Chr7:140801522 [GRCh38]
Chr7:140501322 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1146G>C (p.Leu382Phe) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV001197753] Chr7:140787579 [GRCh38]
Chr7:140487379 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1943A>G (p.Glu648Gly) single nucleotide variant LEOPARD syndrome 3 [RCV001159456]|Noonan syndrome 7 [RCV001159457] Chr7:140749336 [GRCh38]
Chr7:140449136 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.563G>C (p.Arg188Thr) single nucleotide variant LEOPARD syndrome 3 [RCV001159560]|Noonan syndrome 7 [RCV001159561] Chr7:140808937 [GRCh38]
Chr7:140508737 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.49G>C (p.Ala17Pro) single nucleotide variant RASopathy [RCV001233201] Chr7:140924655 [GRCh38]
Chr7:140624455 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.707A>C (p.Asn236Thr) single nucleotide variant RASopathy [RCV001051634] Chr7:140807964 [GRCh38]
Chr7:140507764 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.958G>A (p.Ala320Thr) single nucleotide variant RASopathy [RCV001041640] Chr7:140800384 [GRCh38]
Chr7:140500184 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1699T>G (p.Leu567Val) single nucleotide variant Noonan syndrome 7 [RCV001329216]|Noonan syndrome [RCV001261047]|RASopathy [RCV001215821]|not provided [RCV003222259] Chr7:140754229 [GRCh38]
Chr7:140454029 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.*216T>C single nucleotide variant LEOPARD syndrome 3 [RCV001162348]|Noonan syndrome 7 [RCV001160736] Chr7:140734381 [GRCh38]
Chr7:140434181 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.-56C>T single nucleotide variant LEOPARD syndrome 3 [RCV001164593]|Noonan syndrome 7 [RCV001162547] Chr7:140924759 [GRCh38]
Chr7:140624559 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001378475.1(BRAF):c.240+15434C>T single nucleotide variant RASopathy [RCV001053411] Chr7:140834677 [GRCh38]
Chr7:140534477 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1475_1477del (p.Pro492del) deletion Cardiofaciocutaneous syndrome 1 [RCV001253374] Chr7:140778031..140778033 [GRCh38]
Chr7:140477831..140477833 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.2161T>G (p.Leu721Val) single nucleotide variant Noonan syndrome [RCV001261049] Chr7:140734737 [GRCh38]
Chr7:140434537 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.114T>C (p.Ala38=) single nucleotide variant BRAF-related condition [RCV003908475]|Cardiovascular phenotype [RCV002451622]|RASopathy [RCV002570546] Chr7:140924590 [GRCh38]
Chr7:140624390 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1277G>C (p.Arg426Thr) single nucleotide variant Lip and oral cavity carcinoma [RCV001255637] Chr7:140783058 [GRCh38]
Chr7:140482858 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.240+282ATTT[2] microsatellite not provided [RCV001641836] Chr7:140849818..140849821 [GRCh38]
Chr7:140549618..140549621 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.2265C>G (p.Ile755Met) single nucleotide variant RASopathy [RCV001889037] Chr7:140734633 [GRCh38]
Chr7:140434433 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.156A>G (p.Gln52=) single nucleotide variant not provided [RCV001539006] Chr7:140850195 [GRCh38]
Chr7:140549995 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1740T>C (p.Asn580=) single nucleotide variant Noonan syndrome [RCV001261048] Chr7:140754188 [GRCh38]
Chr7:140453988 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1820C>T (p.Ser607Phe) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV001254939]|not provided [RCV003313199] Chr7:140753315 [GRCh38]
Chr7:140453115 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.58A>G (p.Asn20Asp) single nucleotide variant Cardiovascular phenotype [RCV003169586]|RASopathy [RCV001338045] Chr7:140924646 [GRCh38]
Chr7:140624446 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.112G>C (p.Ala38Pro) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002486467]|Cardiovascular phenotype [RCV002322307]|RASopathy [RCV001352546] Chr7:140924592 [GRCh38]
Chr7:140624392 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.84C>T (p.Gly28=) single nucleotide variant RASopathy [RCV001317260] Chr7:140924620 [GRCh38]
Chr7:140624420 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.969G>A (p.Ser323=) single nucleotide variant Cardiovascular phenotype [RCV002377449]|RASopathy [RCV001341605]|not provided [RCV001568898] Chr7:140800373 [GRCh38]
Chr7:140500173 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.1898A>G (p.Tyr633Cys) single nucleotide variant RASopathy [RCV001350821] Chr7:140749381 [GRCh38]
Chr7:140449181 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.41C>T (p.Pro14Leu) single nucleotide variant RASopathy [RCV001318070] Chr7:140924663 [GRCh38]
Chr7:140624463 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1331G>A (p.Arg444Gln) single nucleotide variant RASopathy [RCV001321496] Chr7:140781677 [GRCh38]
Chr7:140481477 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1103A>G (p.Asn368Ser) single nucleotide variant RASopathy [RCV001312464] Chr7:140794345 [GRCh38]
Chr7:140494145 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1790T>C (p.Leu597Pro) single nucleotide variant not provided [RCV001357965] Chr7:140753345 [GRCh38]
Chr7:140453145 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.957C>G (p.Ser319=) single nucleotide variant Cardiovascular phenotype [RCV002384611]|RASopathy [RCV001415058] Chr7:140800385 [GRCh38]
Chr7:140500185 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1133A>G (p.Asn378Ser) single nucleotide variant RASopathy [RCV001349983] Chr7:140794315 [GRCh38]
Chr7:140494115 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2156G>A (p.Arg719His) single nucleotide variant RASopathy [RCV001362718]|not provided [RCV003235563] Chr7:140734742 [GRCh38]
Chr7:140434542 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1662A>G (p.Ile554Met) single nucleotide variant RASopathy [RCV001370243] Chr7:140776944 [GRCh38]
Chr7:140476744 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1789C>T (p.Leu597=) single nucleotide variant Cardiovascular phenotype [RCV003375250]|RASopathy [RCV001493002]|not provided [RCV001357343] Chr7:140753346 [GRCh38]
Chr7:140453146 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NC_000007.13:g.(?_140434387)_(140624513_?)dup duplication Rasopathy [RCV001319702] Chr7:140434387..140624513 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.612G>A (p.Glu204=) single nucleotide variant not specified [RCV001420943] Chr7:140808059 [GRCh38]
Chr7:140507859 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.612G>C (p.Glu204Asp) single nucleotide variant RASopathy [RCV001368575]|not specified [RCV001269169] Chr7:140808059 [GRCh38]
Chr7:140507859 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.929C>T (p.Thr310Ile) single nucleotide variant RASopathy [RCV001367291] Chr7:140800413 [GRCh38]
Chr7:140500213 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.858T>G (p.Leu286=) single nucleotide variant Cardiovascular phenotype [RCV002447500]|RASopathy [RCV002070250]|not specified [RCV001375568] Chr7:140801414 [GRCh38]
Chr7:140501214 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.1719C>A (p.Ile573=) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002495727]|RASopathy [RCV001486884] Chr7:140754209 [GRCh38]
Chr7:140454009 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.139-9del deletion RASopathy [RCV001473367] Chr7:140850221 [GRCh38]
Chr7:140550021 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1140+7A>G single nucleotide variant RASopathy [RCV001465735] Chr7:140794301 [GRCh38]
Chr7:140494101 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1767A>C (p.Thr589=) single nucleotide variant RASopathy [RCV001400974] Chr7:140753368 [GRCh38]
Chr7:140453168 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1797A>G (p.Thr599=) single nucleotide variant RASopathy [RCV001464212] Chr7:140753338 [GRCh38]
Chr7:140453138 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1491C>T (p.Ala497=) single nucleotide variant RASopathy [RCV001443664] Chr7:140778017 [GRCh38]
Chr7:140477817 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1203C>A (p.Thr401=) single nucleotide variant Cardiovascular phenotype [RCV002350882]|RASopathy [RCV001443946] Chr7:140783132 [GRCh38]
Chr7:140482932 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.915G>A (p.Ala305=) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002493968]|Cardiovascular phenotype [RCV002377641]|RASopathy [RCV001410800]|not provided [RCV003136071] Chr7:140800427 [GRCh38]
Chr7:140500227 [GRCh37]
Chr7:7q34		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004333.6(BRAF):c.1330C>A (p.Arg444=) single nucleotide variant BRAF-related condition [RCV003900380]|RASopathy [RCV001403626]|not provided [RCV001713084] Chr7:140781678 [GRCh38]
Chr7:140481478 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.786A>G (p.Gln262=) single nucleotide variant not provided [RCV001508598] Chr7:140801486 [GRCh38]
Chr7:140501286 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.609-291_609-290del deletion not provided [RCV001695175] Chr7:140808352..140808353 [GRCh38]
Chr7:140508152..140508153 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1433-162T>G single nucleotide variant not provided [RCV001587157] Chr7:140778237 [GRCh38]
Chr7:140478037 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.980+52T>C single nucleotide variant not provided [RCV001609195] Chr7:140800310 [GRCh38]
Chr7:140500110 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.87C>T (p.Ala29=) single nucleotide variant RASopathy [RCV001500302] Chr7:140924617 [GRCh38]
Chr7:140624417 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.81C>G (p.Ala27=) single nucleotide variant Cardiovascular phenotype [RCV002425004]|RASopathy [RCV002070433]|not provided [RCV001585203] Chr7:140924623 [GRCh38]
Chr7:140624423 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2128-62CTTT[4] microsatellite not provided [RCV001694060] Chr7:140734820..140734821 [GRCh38]
Chr7:140434620..140434621 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.2128-26T>C single nucleotide variant not provided [RCV001540735] Chr7:140734796 [GRCh38]
Chr7:140434596 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.609-75T>A single nucleotide variant not provided [RCV001539957] Chr7:140808137 [GRCh38]
Chr7:140507937 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1993-10C>A single nucleotide variant RASopathy [RCV001417467] Chr7:140739956 [GRCh38]
Chr7:140439756 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.81C>T (p.Ala27=) single nucleotide variant RASopathy [RCV001403753] Chr7:140924623 [GRCh38]
Chr7:140624423 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1848C>A (p.Ser616=) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002506575]|Cardiovascular phenotype [RCV002414202]|RASopathy [RCV001497073] Chr7:140753287 [GRCh38]
Chr7:140453087 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.987A>G (p.Gln329=) single nucleotide variant RASopathy [RCV001399205] Chr7:140794461 [GRCh38]
Chr7:140494261 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1177+247del deletion not provided [RCV001539198] Chr7:140787301 [GRCh38]
Chr7:140487101 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1402T>C (p.Phe468Leu) single nucleotide variant not provided [RCV001508597] Chr7:140781606 [GRCh38]
Chr7:140481406 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1591T>C (p.Trp531Arg) single nucleotide variant Colorectal cancer [RCV002249304]|not provided [RCV003149019] Chr7:140777015 [GRCh38]
Chr7:140476815 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.1141G>A (p.Asp381Asn) single nucleotide variant not provided [RCV001730444] Chr7:140787584 [GRCh38]
Chr7:140487384 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1995A>G (p.Ile665Met) single nucleotide variant not provided [RCV001727426] Chr7:140739944 [GRCh38]
Chr7:140439744 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1315-28A>G single nucleotide variant not provided [RCV002247203] Chr7:140781721 [GRCh38]
Chr7:140481521 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1403T>G (p.Phe468Cys) single nucleotide variant not provided [RCV001780685] Chr7:140781605 [GRCh38]
Chr7:140481405 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1897T>C (p.Tyr633His) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV003224581]|RASopathy [RCV002540706]|not provided [RCV003238439] Chr7:140749382 [GRCh38]
Chr7:140449182 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1858A>G (p.Met620Val) single nucleotide variant Noonan syndrome 7 [RCV002254850] Chr7:140753277 [GRCh38]
Chr7:140453077 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.712G>A (p.Val238Ile) single nucleotide variant BRAF-related condition [RCV003892841]|not provided [RCV001777001] Chr7:140801560 [GRCh38]
Chr7:140501360 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1990C>G (p.Gln664Glu) single nucleotide variant not provided [RCV001777097] Chr7:140749289 [GRCh38]
Chr7:140449089 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1454T>G (p.Leu485Trp) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV001785377] Chr7:140778054 [GRCh38]
Chr7:140477854 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.823G>A (p.Glu275Lys) single nucleotide variant Noonan syndrome 7 [RCV002468641]|RASopathy [RCV002034598] Chr7:140801449 [GRCh38]
Chr7:140501249 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic
NM_004333.6(BRAF):c.331G>T (p.Val111Phe) single nucleotide variant RASopathy [RCV003539401]|not specified [RCV001733387] Chr7:140834782 [GRCh38]
Chr7:140534582 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1738A>G (p.Asn580Asp) single nucleotide variant not provided [RCV001768055] Chr7:140754190 [GRCh38]
Chr7:140453990 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.159G>A (p.Met53Ile) single nucleotide variant not provided [RCV001776429]|not specified [RCV003120685] Chr7:140850192 [GRCh38]
Chr7:140549992 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.497G>A (p.Arg166Lys) single nucleotide variant not provided [RCV001776433] Chr7:140834616 [GRCh38]
Chr7:140534416 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.52C>G (p.Leu18Val) single nucleotide variant RASopathy [RCV001868748]|not provided [RCV001768412]|not specified [RCV003388040] Chr7:140924652 [GRCh38]
Chr7:140624452 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.1010C>T (p.Ser337Leu) single nucleotide variant not provided [RCV001753188] Chr7:140794438 [GRCh38]
Chr7:140494238 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.913G>A (p.Ala305Thr) single nucleotide variant RASopathy [RCV003539409]|not provided [RCV001776918] Chr7:140800429 [GRCh38]
Chr7:140500229 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.669T>C (p.His223=) single nucleotide variant not specified [RCV001797907] Chr7:140808002 [GRCh38]
Chr7:140507802 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.413T>C (p.Phe138Ser) single nucleotide variant not provided [RCV003238438] Chr7:140834700 [GRCh38]
Chr7:140534500 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1177G>A (p.Gly393Arg) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813634] Chr7:140787548 [GRCh38]
Chr7:140487348 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.63G>A (p.Gly21=) single nucleotide variant BRAF-related condition [RCV003892858]|Cardiovascular phenotype [RCV003163949]|Noonan syndrome and Noonan-related syndrome [RCV001813637]|RASopathy [RCV003120701] Chr7:140924641 [GRCh38]
Chr7:140624441 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 copy number loss Hypertelorism [RCV001801200] Chr7:133848099..145814115 [GRCh37]
Chr7:7q33-35		 pathogenic
NM_004333.6(BRAF):c.271G>T (p.Ala91Ser) single nucleotide variant BRAF-related spectrum disorder [RCV001795611] Chr7:140834842 [GRCh38]
Chr7:140534642 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.708C>G (p.Asn236Lys) single nucleotide variant not provided [RCV001776896] Chr7:140807963 [GRCh38]
Chr7:140507763 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1444G>C (p.Val482Leu) single nucleotide variant not provided [RCV001757378] Chr7:140778064 [GRCh38]
Chr7:140477864 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1976T>C (p.Ile659Thr) single nucleotide variant not provided [RCV001776898] Chr7:140749303 [GRCh38]
Chr7:140449103 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002482295]|RASopathy [RCV002034520]|not provided [RCV001776749] Chr7:140794387 [GRCh38]
Chr7:140494187 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.96CGC[4] (p.Ala34_Ala35dup) microsatellite Noonan syndrome and Noonan-related syndrome [RCV001813615] Chr7:140924602..140924603 [GRCh38]
Chr7:140624402..140624403 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.980+10G>A single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813635] Chr7:140800352 [GRCh38]
Chr7:140500152 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1218A>C (p.Leu406Phe) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813633] Chr7:140783117 [GRCh38]
Chr7:140482917 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.98C>T (p.Ala33Val) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813636]|not provided [RCV003426201] Chr7:140924606 [GRCh38]
Chr7:140624406 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2128-10_2128-9insC insertion Cardiofaciocutaneous syndrome 1 [RCV002503304]|Noonan syndrome and Noonan-related syndrome [RCV001813616]|RASopathy [RCV002542449] Chr7:140734779..140734780 [GRCh38]
Chr7:140434579..140434580 [GRCh37]
Chr7:7q34		 benign|likely benign
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_004333.6(BRAF):c.1460T>A (p.Val487Glu) single nucleotide variant Arteriovenous malformation [RCV001848593] Chr7:140778048 [GRCh38]
Chr7:140477848 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1690A>G (p.Met564Val) single nucleotide variant Primary dilated cardiomyopathy [RCV003319228]|RASopathy [RCV002545197]|not specified [RCV001825053] Chr7:140776916 [GRCh38]
Chr7:140476716 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
NM_004333.6(BRAF):c.1642T>C (p.Phe548Leu) single nucleotide variant RASopathy [RCV001895097] Chr7:140776964 [GRCh38]
Chr7:140476764 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1205C>T (p.Pro402Leu) single nucleotide variant RASopathy [RCV001966457] Chr7:140783130 [GRCh38]
Chr7:140482930 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.379A>G (p.Ser127Gly) single nucleotide variant RASopathy [RCV001896618] Chr7:140834734 [GRCh38]
Chr7:140534534 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.317G>A (p.Gly106Glu) single nucleotide variant RASopathy [RCV001929478] Chr7:140834796 [GRCh38]
Chr7:140534596 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.992T>C (p.Leu331Pro) single nucleotide variant RASopathy [RCV001950164] Chr7:140794456 [GRCh38]
Chr7:140494256 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.974C>G (p.Ser325Cys) single nucleotide variant RASopathy [RCV001911609] Chr7:140800368 [GRCh38]
Chr7:140500168 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.80C>T (p.Ala27Val) single nucleotide variant RASopathy [RCV001948062] Chr7:140924624 [GRCh38]
Chr7:140624424 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1861-5A>G single nucleotide variant not specified [RCV001844604] Chr7:140749423 [GRCh38]
Chr7:140449223 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.229A>G (p.Ile77Val) single nucleotide variant Cardiovascular phenotype [RCV002442952]|RASopathy [RCV001985544] Chr7:140850122 [GRCh38]
Chr7:140549922 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.608+4T>C single nucleotide variant RASopathy [RCV001984288] Chr7:140808888 [GRCh38]
Chr7:140508688 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1489G>A (p.Ala497Thr) single nucleotide variant RASopathy [RCV001895000] Chr7:140778019 [GRCh38]
Chr7:140477819 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q34(chr7:140142390-140443247) copy number gain not specified [RCV002053737] Chr7:140142390..140443247 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1256C>T (p.Ser419Phe) single nucleotide variant not specified [RCV001844603] Chr7:140783079 [GRCh38]
Chr7:140482879 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2293G>C (p.Val765Leu) single nucleotide variant RASopathy [RCV001966189] Chr7:140734605 [GRCh38]
Chr7:140434405 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2203C>T (p.Arg735Trp) single nucleotide variant RASopathy [RCV002039334] Chr7:140734695 [GRCh38]
Chr7:140434495 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1455_1469del (p.Leu485_Pro490delinsPhe) deletion Vascular malformation [RCV003493322] Chr7:140778039..140778053 [GRCh38]
Chr7:140477839..140477853 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.365C>T (p.Ser122Phe) single nucleotide variant RASopathy [RCV001961825] Chr7:140834748 [GRCh38]
Chr7:140534548 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.667C>T (p.His223Tyr) single nucleotide variant RASopathy [RCV001944118] Chr7:140808004 [GRCh38]
Chr7:140507804 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.79G>A (p.Ala27Thr) single nucleotide variant RASopathy [RCV001919688] Chr7:140924625 [GRCh38]
Chr7:140624425 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.272C>G (p.Ala91Gly) single nucleotide variant RASopathy [RCV002033139] Chr7:140834841 [GRCh38]
Chr7:140534641 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.35C>T (p.Ala12Val) single nucleotide variant RASopathy [RCV001887434] Chr7:140924669 [GRCh38]
Chr7:140624469 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1518-3C>T single nucleotide variant RASopathy [RCV002039208] Chr7:140777091 [GRCh38]
Chr7:140476891 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.124G>T (p.Ala42Ser) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002492210]|RASopathy [RCV002018978] Chr7:140924580 [GRCh38]
Chr7:140624380 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.26G>C (p.Gly9Ala) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002497840]|Cardiovascular phenotype [RCV002425313]|RASopathy [RCV001958359] Chr7:140924678 [GRCh38]
Chr7:140624478 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.317G>C (p.Gly106Ala) single nucleotide variant RASopathy [RCV002015726] Chr7:140834796 [GRCh38]
Chr7:140534596 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1051G>C (p.Glu351Gln) single nucleotide variant RASopathy [RCV002051129] Chr7:140794397 [GRCh38]
Chr7:140494197 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.103G>A (p.Ala35Thr) single nucleotide variant RASopathy [RCV002026344] Chr7:140924601 [GRCh38]
Chr7:140624401 [GRCh37]
Chr7:7q34		 uncertain significance
NC_000007.13:g.(?_137761265)_(141759786_?)dup duplication not provided [RCV002014827] Chr7:137761265..141759786 [GRCh37]
Chr7:7q33-34		 uncertain significance
NM_004333.6(BRAF):c.1582G>C (p.Val528Leu) single nucleotide variant RASopathy [RCV002051338] Chr7:140777024 [GRCh38]
Chr7:140476824 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2140A>G (p.Ile714Val) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002503573]|RASopathy [RCV001916366] Chr7:140734758 [GRCh38]
Chr7:140434558 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.755G>A (p.Arg252Gln) single nucleotide variant RASopathy [RCV001991277] Chr7:140801517 [GRCh38]
Chr7:140501317 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.319A>C (p.Thr107Pro) single nucleotide variant RASopathy [RCV001907055] Chr7:140834794 [GRCh38]
Chr7:140534594 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1368G>A (p.Gln456=) single nucleotide variant RASopathy [RCV002074422]|not provided [RCV002049732] Chr7:140781640 [GRCh38]
Chr7:140481440 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.65A>T (p.Asp22Val) single nucleotide variant RASopathy [RCV001924723] Chr7:140924639 [GRCh38]
Chr7:140624439 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.374C>T (p.Ser125Phe) single nucleotide variant RASopathy [RCV002050080] Chr7:140834739 [GRCh38]
Chr7:140534539 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1615C>A (p.His539Asn) single nucleotide variant RASopathy [RCV001905610] Chr7:140776991 [GRCh38]
Chr7:140476791 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1861G>T (p.Ala621Ser) single nucleotide variant RASopathy [RCV001903568] Chr7:140749418 [GRCh38]
Chr7:140449218 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1447A>G (p.Lys483Glu) single nucleotide variant RASopathy [RCV001930892] Chr7:140778061 [GRCh38]
Chr7:140477861 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1448A>G (p.Lys483Arg) single nucleotide variant RASopathy [RCV002013031] Chr7:140778060 [GRCh38]
Chr7:140477860 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1247T>C (p.Leu416Ser) single nucleotide variant RASopathy [RCV002032977] Chr7:140783088 [GRCh38]
Chr7:140482888 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.558G>A (p.Met186Ile) single nucleotide variant RASopathy [RCV001920516] Chr7:140808942 [GRCh38]
Chr7:140508742 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.15CGGTGG[3] (p.Gly10_Gly11dup) microsatellite RASopathy [RCV001952022] Chr7:140924677..140924678 [GRCh38]
Chr7:140624477..140624478 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2078T>C (p.Met693Thr) single nucleotide variant RASopathy [RCV001935967] Chr7:140739861 [GRCh38]
Chr7:140439661 [GRCh37]
Chr7:7q34		 uncertain significance
NC_000007.13:g.(?_140434397)_(140624503_?)dup duplication RASopathy [RCV001955757] Chr7:140434397..140624503 [GRCh37]
Chr7:7q34		 uncertain significance
NC_000007.13:g.(?_140434397)_(140550032_?)dup duplication RASopathy [RCV001995968] Chr7:140434397..140550032 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.82G>T (p.Gly28Cys) single nucleotide variant RASopathy [RCV002015356] Chr7:140924622 [GRCh38]
Chr7:140624422 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.907G>C (p.Glu303Gln) single nucleotide variant RASopathy [RCV002026531] Chr7:140800435 [GRCh38]
Chr7:140500235 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1979A>G (p.Asn660Ser) single nucleotide variant RASopathy [RCV001933531] Chr7:140749300 [GRCh38]
Chr7:140449100 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.280C>A (p.Gln94Lys) single nucleotide variant BRAF-related condition [RCV003913422]|RASopathy [RCV002030123] Chr7:140834833 [GRCh38]
Chr7:140534633 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1452G>T (p.Met484Ile) single nucleotide variant RASopathy [RCV002049339] Chr7:140778056 [GRCh38]
Chr7:140477856 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.92C>T (p.Ala31Val) single nucleotide variant RASopathy [RCV001877927] Chr7:140924612 [GRCh38]
Chr7:140624412 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1443A>C (p.Ala481=) single nucleotide variant RASopathy [RCV002187489] Chr7:140778065 [GRCh38]
Chr7:140477865 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.315C>T (p.Asn105=) single nucleotide variant RASopathy [RCV002126571] Chr7:140834798 [GRCh38]
Chr7:140534598 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1992+15C>T single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002507892]|RASopathy [RCV002190259] Chr7:140749272 [GRCh38]
Chr7:140449072 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2205G>A (p.Arg735=) single nucleotide variant RASopathy [RCV002073444] Chr7:140734693 [GRCh38]
Chr7:140434493 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1993-13T>C single nucleotide variant RASopathy [RCV002185842] Chr7:140739959 [GRCh38]
Chr7:140439759 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2160A>G (p.Ser720=) single nucleotide variant RASopathy [RCV002206895] Chr7:140734738 [GRCh38]
Chr7:140434538 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.471T>A (p.Val157=) single nucleotide variant RASopathy [RCV002107602] Chr7:140834642 [GRCh38]
Chr7:140534442 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2128-16_2128-15delinsTC indel RASopathy [RCV002108783]|not specified [RCV003331310] Chr7:140734785..140734786 [GRCh38]
Chr7:140434585..140434586 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.831A>C (p.Pro277=) single nucleotide variant RASopathy [RCV002167341] Chr7:140801441 [GRCh38]
Chr7:140501241 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1695-1G>T single nucleotide variant not provided [RCV002224405] Chr7:140754234 [GRCh38]
Chr7:140454034 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.258C>A (p.Thr86=) single nucleotide variant RASopathy [RCV002112521] Chr7:140834855 [GRCh38]
Chr7:140534655 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1433-15A>G single nucleotide variant RASopathy [RCV002205322] Chr7:140778090 [GRCh38]
Chr7:140477890 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2128-44_2128-18del deletion RASopathy [RCV002089490] Chr7:140734788..140734814 [GRCh38]
Chr7:140434588..140434614 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2128-16_2128-14del deletion BRAF-related condition [RCV003893139]|RASopathy [RCV002165691] Chr7:140734784..140734786 [GRCh38]
Chr7:140434584..140434586 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1293C>T (p.Ser431=) single nucleotide variant RASopathy [RCV002074837] Chr7:140783042 [GRCh38]
Chr7:140482842 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1818G>A (p.Gly606=) single nucleotide variant Cardiovascular phenotype [RCV002409511]|RASopathy [RCV002111839]|not provided [RCV003426322] Chr7:140753317 [GRCh38]
Chr7:140453117 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1993-9T>G single nucleotide variant RASopathy [RCV002187311] Chr7:140739955 [GRCh38]
Chr7:140439755 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.789A>C (p.Thr263=) single nucleotide variant RASopathy [RCV002112714] Chr7:140801483 [GRCh38]
Chr7:140501283 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1338G>A (p.Ser446=) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002500167]|Cardiovascular phenotype [RCV002382405]|RASopathy [RCV002106240] Chr7:140781670 [GRCh38]
Chr7:140481470 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.679T>C (p.Leu227=) single nucleotide variant RASopathy [RCV002107582] Chr7:140807992 [GRCh38]
Chr7:140507792 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1039C>T (p.Arg347Ter) single nucleotide variant not provided [RCV002223460] Chr7:140794409 [GRCh38]
Chr7:140494209 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1141-12A>C single nucleotide variant RASopathy [RCV002110692] Chr7:140787596 [GRCh38]
Chr7:140487396 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1533G>A (p.Val511=) single nucleotide variant RASopathy [RCV002167273] Chr7:140777073 [GRCh38]
Chr7:140476873 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1602C>T (p.Gly534=) single nucleotide variant Cardiovascular phenotype [RCV002398195]|RASopathy [RCV002205777] Chr7:140777004 [GRCh38]
Chr7:140476804 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2133C>T (p.Leu711=) single nucleotide variant RASopathy [RCV002209937] Chr7:140734765 [GRCh38]
Chr7:140434565 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1530T>C (p.His510=) single nucleotide variant RASopathy [RCV002167641] Chr7:140777076 [GRCh38]
Chr7:140476876 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.21C>T (p.Gly7=) single nucleotide variant RASopathy [RCV002079196] Chr7:140924683 [GRCh38]
Chr7:140624483 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.298T>C (p.Leu100=) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002486836]|RASopathy [RCV002213206] Chr7:140834815 [GRCh38]
Chr7:140534615 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1517+9G>A single nucleotide variant RASopathy [RCV002096171] Chr7:140777982 [GRCh38]
Chr7:140477782 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1993-11del deletion RASopathy [RCV002124818] Chr7:140739957 [GRCh38]
Chr7:140439757 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1741+15A>C single nucleotide variant RASopathy [RCV002112930] Chr7:140754172 [GRCh38]
Chr7:140453972 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1572A>G (p.Gln524=) single nucleotide variant RASopathy [RCV002147735] Chr7:140777034 [GRCh38]
Chr7:140476834 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.468C>T (p.Ile156=) single nucleotide variant RASopathy [RCV002112892] Chr7:140834645 [GRCh38]
Chr7:140534445 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1141-4G>A single nucleotide variant RASopathy [RCV002107778] Chr7:140787588 [GRCh38]
Chr7:140487388 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2127+19C>T single nucleotide variant RASopathy [RCV002169378] Chr7:140739793 [GRCh38]
Chr7:140439593 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.608+18C>T single nucleotide variant RASopathy [RCV002150250]|not specified [RCV003235678] Chr7:140808874 [GRCh38]
Chr7:140508674 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.15C>T (p.Ser5=) single nucleotide variant RASopathy [RCV002174861] Chr7:140924689 [GRCh38]
Chr7:140624489 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1401A>G (p.Ser467=) single nucleotide variant Cardiovascular phenotype [RCV002391223]|RASopathy [RCV002097441] Chr7:140781607 [GRCh38]
Chr7:140481407 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1542A>G (p.Leu514=) single nucleotide variant RASopathy [RCV002150025] Chr7:140777064 [GRCh38]
Chr7:140476864 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1518-6G>T single nucleotide variant RASopathy [RCV002079206] Chr7:140777094 [GRCh38]
Chr7:140476894 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1178-1573G>A single nucleotide variant not provided [RCV002214452] Chr7:140784730 [GRCh38]
Chr7:140484530 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1177+959A>G single nucleotide variant not provided [RCV002214453] Chr7:140786589 [GRCh38]
Chr7:140486389 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.980+2878C>G single nucleotide variant not provided [RCV002214454] Chr7:140797484 [GRCh38]
Chr7:140497284 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.980+1812C>T single nucleotide variant not provided [RCV002214455] Chr7:140798550 [GRCh38]
Chr7:140498350 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.2128-27_2128-19del deletion Cardiofaciocutaneous syndrome 1 [RCV002498148]|RASopathy [RCV002174726] Chr7:140734789..140734797 [GRCh38]
Chr7:140434589..140434597 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1673G>A (p.Arg558Gln) single nucleotide variant RASopathy [RCV003655348]|not provided [RCV002223445]|not specified [RCV002266111] Chr7:140776933 [GRCh38]
Chr7:140476733 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1433-18G>A single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002486880]|RASopathy [RCV002112921] Chr7:140778093 [GRCh38]
Chr7:140477893 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1432+17_1432+19del microsatellite Cardiofaciocutaneous syndrome 1 [RCV002505833]|RASopathy [RCV002151918]|not specified [RCV002469457] Chr7:140781557..140781559 [GRCh38]
Chr7:140481357..140481359 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.339C>T (p.Ser113=) single nucleotide variant RASopathy [RCV002194615] Chr7:140834774 [GRCh38]
Chr7:140534574 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1861-12A>G single nucleotide variant RASopathy [RCV002131284] Chr7:140749430 [GRCh38]
Chr7:140449230 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2127+9A>G single nucleotide variant RASopathy [RCV002119403] Chr7:140739803 [GRCh38]
Chr7:140439603 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.132G>C (p.Pro44=) single nucleotide variant RASopathy [RCV002102940] Chr7:140924572 [GRCh38]
Chr7:140624372 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1992+20T>C single nucleotide variant RASopathy [RCV002137353] Chr7:140749267 [GRCh38]
Chr7:140449067 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1161A>G (p.Gly387=) single nucleotide variant RASopathy [RCV002164344] Chr7:140787564 [GRCh38]
Chr7:140487364 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1177+15C>T single nucleotide variant RASopathy [RCV002136641] Chr7:140787533 [GRCh38]
Chr7:140487333 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1517+13G>A single nucleotide variant RASopathy [RCV002182521] Chr7:140777978 [GRCh38]
Chr7:140477778 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.712-21_712-20del microsatellite RASopathy [RCV002162532] Chr7:140801580..140801581 [GRCh38]
Chr7:140501380..140501381 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2128-20T>C single nucleotide variant BRAF-related condition [RCV003895845]|RASopathy [RCV002162943] Chr7:140734790 [GRCh38]
Chr7:140434590 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1432+17G>T single nucleotide variant RASopathy [RCV002121837] Chr7:140781559 [GRCh38]
Chr7:140481359 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1518-17C>A single nucleotide variant RASopathy [RCV002123384] Chr7:140777105 [GRCh38]
Chr7:140476905 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1314+13_1314+15del deletion RASopathy [RCV002084167] Chr7:140783006..140783008 [GRCh38]
Chr7:140482806..140482808 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.980+17G>C single nucleotide variant RASopathy [RCV002120356] Chr7:140800345 [GRCh38]
Chr7:140500145 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1860+15T>A single nucleotide variant RASopathy [RCV002180227] Chr7:140753260 [GRCh38]
Chr7:140453060 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1433-7C>T single nucleotide variant RASopathy [RCV002220824] Chr7:140778082 [GRCh38]
Chr7:140477882 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.969G>T (p.Ser323=) single nucleotide variant RASopathy [RCV002183411] Chr7:140800373 [GRCh38]
Chr7:140500173 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.240+15A>G single nucleotide variant RASopathy [RCV002081836] Chr7:140850096 [GRCh38]
Chr7:140549896 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2157C>T (p.Arg719=) single nucleotide variant RASopathy [RCV002183652] Chr7:140734741 [GRCh38]
Chr7:140434541 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.459A>G (p.Gln153=) single nucleotide variant RASopathy [RCV002139852] Chr7:140834654 [GRCh38]
Chr7:140534454 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1083C>T (p.Asp361=) single nucleotide variant Cardiovascular phenotype [RCV002427600]|RASopathy [RCV002217738] Chr7:140794365 [GRCh38]
Chr7:140494165 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1984A>C (p.Arg662=) single nucleotide variant RASopathy [RCV002142069] Chr7:140749295 [GRCh38]
Chr7:140449095 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.82G>A (p.Gly28Ser) single nucleotide variant not specified [RCV002223088] Chr7:140924622 [GRCh38]
Chr7:140624422 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2128-17T>C single nucleotide variant RASopathy [RCV002178759] Chr7:140734787 [GRCh38]
Chr7:140434587 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2190A>G (p.Glu730=) single nucleotide variant RASopathy [RCV002204900] Chr7:140734708 [GRCh38]
Chr7:140434508 [GRCh37]
Chr7:7q34		 likely benign
NC_000007.13:g.(?_138391369)_(141759786_?)del deletion RASopathy [RCV003113440]|not provided [RCV003109447] Chr7:138391369..141759786 [GRCh37]
Chr7:7q34		 pathogenic|uncertain significance|no classifications from unflagged records
NM_004333.6(BRAF):c.1539C>A (p.Ile513=) single nucleotide variant RASopathy [RCV003110297] Chr7:140777067 [GRCh38]
Chr7:140476867 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.240+20A>G single nucleotide variant RASopathy [RCV003117022] Chr7:140850091 [GRCh38]
Chr7:140549891 [GRCh37]
Chr7:7q34		 likely benign
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
NC_000007.13:g.(?_140534389)_(140534692_?)del deletion RASopathy [RCV003113438] Chr7:140534389..140534692 [GRCh37]
Chr7:7q34		 uncertain significance
NC_000007.13:g.(?_140624346)_(140624503_?)dup duplication RASopathy [RCV003113439] Chr7:140624346..140624503 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.288A>G (p.Glu96=) single nucleotide variant RASopathy [RCV003117948]|not provided [RCV003434692] Chr7:140834825 [GRCh38]
Chr7:140534625 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1253A>G (p.Lys418Arg) single nucleotide variant not specified [RCV003123441] Chr7:140783082 [GRCh38]
Chr7:140482882 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.94G>C (p.Gly32Arg) single nucleotide variant See cases [RCV002252517] Chr7:140924610 [GRCh38]
Chr7:140624410 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1141-497A>G single nucleotide variant not provided [RCV002263463] Chr7:140788081 [GRCh38]
Chr7:140487881 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1140+2523G>C single nucleotide variant not provided [RCV002263464] Chr7:140791785 [GRCh38]
Chr7:140491585 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1742-10T>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292355] Chr7:140753403 [GRCh38]
Chr7:140453203 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1742-15C>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292358] Chr7:140753408 [GRCh38]
Chr7:140453208 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1860+21del deletion Prostate cancer, hereditary, 1 [RCV002292362] Chr7:140753254 [GRCh38]
Chr7:140453054 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1768dup (p.Val590fs) duplication Prostate cancer, hereditary, 1 [RCV002292363] Chr7:140753366..140753367 [GRCh38]
Chr7:140453166..140453167 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1315-35T>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292365] Chr7:140781728 [GRCh38]
Chr7:140481528 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1416_1417insT (p.Lys473Ter) insertion Prostate cancer, hereditary, 1 [RCV002292366] Chr7:140781591..140781592 [GRCh38]
Chr7:140481391..140481392 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1408A>G (p.Thr470Ala) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292367] Chr7:140781600 [GRCh38]
Chr7:140481400 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10157C>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293302] Chr7:140764390 [GRCh38]
Chr7:140464190 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+296T>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293307] Chr7:140781280 [GRCh38]
Chr7:140481080 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+41G>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293320] Chr7:140781535 [GRCh38]
Chr7:140481335 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1430A>C (p.His477Pro) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293323] Chr7:140781578 [GRCh38]
Chr7:140481378 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10278G>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293334] Chr7:140764511 [GRCh38]
Chr7:140464311 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10356G>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293343] Chr7:140764589 [GRCh38]
Chr7:140464389 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1373del (p.Thr458fs) deletion Prostate cancer, hereditary, 1 [RCV002293356] Chr7:140781635 [GRCh38]
Chr7:140481435 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+67T>C single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293361] Chr7:140781509 [GRCh38]
Chr7:140481309 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1351dup (p.Glu451fs) duplication Prostate cancer, hereditary, 1 [RCV002293369] Chr7:140781656..140781657 [GRCh38]
Chr7:140481456..140481457 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10273A>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293375] Chr7:140764506 [GRCh38]
Chr7:140464306 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+141A>C single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293376] Chr7:140781435 [GRCh38]
Chr7:140481235 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.20G>A (p.Gly7Asp) single nucleotide variant not specified [RCV002281790] Chr7:140924684 [GRCh38]
Chr7:140624484 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2291C>T (p.Pro764Leu) single nucleotide variant RASopathy [RCV003096070]|not provided [RCV002267447] Chr7:140734607 [GRCh38]
Chr7:140434407 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.981-2232A>T single nucleotide variant not provided [RCV002276180] Chr7:140796699 [GRCh38]
Chr7:140496499 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1695-10150C>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293301] Chr7:140764383 [GRCh38]
Chr7:140464183 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+234T>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293309] Chr7:140781342 [GRCh38]
Chr7:140481142 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+157A>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293313] Chr7:140781419 [GRCh38]
Chr7:140481219 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1339A>T (p.Ser447Cys) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293324] Chr7:140781669 [GRCh38]
Chr7:140481469 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+65T>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293328] Chr7:140781511 [GRCh38]
Chr7:140481311 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1377_1378insT (p.Gly460fs) insertion Prostate cancer, hereditary, 1 [RCV002293329] Chr7:140781630..140781631 [GRCh38]
Chr7:140481430..140481431 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10462T>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293350] Chr7:140764695 [GRCh38]
Chr7:140464495 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10468C>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293351] Chr7:140764701 [GRCh38]
Chr7:140464501 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1348_1349insC (p.Trp450fs) insertion Prostate cancer, hereditary, 1 [RCV002293357] Chr7:140781659..140781660 [GRCh38]
Chr7:140481459..140481460 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10155T>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293372] Chr7:140764388 [GRCh38]
Chr7:140464188 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1314+475C>T single nucleotide variant not provided [RCV002276178] Chr7:140782546 [GRCh38]
Chr7:140482346 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1141-1276T>C single nucleotide variant not provided [RCV002276179] Chr7:140788860 [GRCh38]
Chr7:140488660 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1151G>A (p.Arg384Lys) single nucleotide variant not specified [RCV002282870] Chr7:140787574 [GRCh38]
Chr7:140487374 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1714A>G (p.Ile572Val) single nucleotide variant Noonan syndrome 7 [RCV002272953] Chr7:140754214 [GRCh38]
Chr7:140454014 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.66C>G (p.Asp22Glu) single nucleotide variant Noonan syndrome 7 [RCV002292229] Chr7:140924638 [GRCh38]
Chr7:140624438 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1335C>T (p.Asp445=) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292334]|RASopathy [RCV003101684] Chr7:140781673 [GRCh38]
Chr7:140481473 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_004333.6(BRAF):c.1326T>G (p.Gly442=) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292335] Chr7:140781682 [GRCh38]
Chr7:140481482 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1315-15A>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292336] Chr7:140781708 [GRCh38]
Chr7:140481508 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+34C>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292337] Chr7:140781542 [GRCh38]
Chr7:140481342 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1376T>G (p.Val459Gly) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292340] Chr7:140781632 [GRCh38]
Chr7:140481432 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1358C>T (p.Pro453Leu) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292341] Chr7:140781650 [GRCh38]
Chr7:140481450 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+20A>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292342] Chr7:140781556 [GRCh38]
Chr7:140481356 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+46T>C single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292343] Chr7:140781530 [GRCh38]
Chr7:140481330 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1428_1429insA (p.His477fs) insertion Prostate cancer, hereditary, 1 [RCV002292344] Chr7:140781579..140781580 [GRCh38]
Chr7:140481379..140481380 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1404_1405del (p.Phe468fs) deletion Prostate cancer, hereditary, 1 [RCV002292345] Chr7:140781603..140781604 [GRCh38]
Chr7:140481403..140481404 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1388T>C (p.Ile463Thr) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292346] Chr7:140781620 [GRCh38]
Chr7:140481420 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1776A>T (p.Ile592=) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292350] Chr7:140753359 [GRCh38]
Chr7:140453159 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1771A>G (p.Lys591Glu) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292351] Chr7:140753364 [GRCh38]
Chr7:140453164 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+15T>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292352] Chr7:140781561 [GRCh38]
Chr7:140481361 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1742-1delinsTT indel Prostate cancer, hereditary, 1 [RCV002292353] Chr7:140753394 [GRCh38]
Chr7:140453194 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1782_1783insATT (p.Asp594_Phe595insIle) insertion Prostate cancer, hereditary, 1 [RCV002292354] Chr7:140753352..140753353 [GRCh38]
Chr7:140453152..140453153 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.940T>A (p.Ser314Thr) single nucleotide variant LEOPARD syndrome 3 [RCV002290173] Chr7:140800402 [GRCh38]
Chr7:140500202 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1140+648G>C single nucleotide variant not provided [RCV002293177] Chr7:140793660 [GRCh38]
Chr7:140493460 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1353_1354insC (p.Ile452fs) insertion Prostate cancer, hereditary, 1 [RCV002293294] Chr7:140781654..140781655 [GRCh38]
Chr7:140481454..140481455 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1333G>T (p.Asp445Tyr) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293325] Chr7:140781675 [GRCh38]
Chr7:140481475 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1367A>T (p.Gln456Leu) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293330] Chr7:140781641 [GRCh38]
Chr7:140481441 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10193A>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293332] Chr7:140764426 [GRCh38]
Chr7:140464226 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10293G>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293336] Chr7:140764526 [GRCh38]
Chr7:140464326 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+282C>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293337] Chr7:140781294 [GRCh38]
Chr7:140481094 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+276T>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293348] Chr7:140781300 [GRCh38]
Chr7:140481100 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+230G>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293370] Chr7:140781346 [GRCh38]
Chr7:140481146 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10233C>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293374] Chr7:140764466 [GRCh38]
Chr7:140464266 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.16_40del (p.Gly6fs) deletion Intellectual disability [RCV002261477] Chr7:140924664..140924688 [GRCh38]
Chr7:140624464..140624488 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1368dup (p.Ile457fs) duplication Prostate cancer, hereditary, 1 [RCV002293298] Chr7:140781639..140781640 [GRCh38]
Chr7:140481439..140481440 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1323T>G (p.Leu441=) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293299] Chr7:140781685 [GRCh38]
Chr7:140481485 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+246A>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293308] Chr7:140781330 [GRCh38]
Chr7:140481130 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+181C>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293311] Chr7:140781395 [GRCh38]
Chr7:140481195 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+144G>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293314] Chr7:140781432 [GRCh38]
Chr7:140481232 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+120A>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293318] Chr7:140781456 [GRCh38]
Chr7:140481256 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+114A>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293319] Chr7:140781462 [GRCh38]
Chr7:140481262 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+34C>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293321] Chr7:140781542 [GRCh38]
Chr7:140481342 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+296T>C single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293327] Chr7:140781280 [GRCh38]
Chr7:140481080 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10335A>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293340] Chr7:140764568 [GRCh38]
Chr7:140464368 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10342T>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293341] Chr7:140764575 [GRCh38]
Chr7:140464375 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10345G>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293342] Chr7:140764578 [GRCh38]
Chr7:140464378 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10377G>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293344] Chr7:140764610 [GRCh38]
Chr7:140464410 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10396G>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293346] Chr7:140764629 [GRCh38]
Chr7:140464429 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10472del deletion Prostate cancer, hereditary, 1 [RCV002293352] Chr7:140764705 [GRCh38]
Chr7:140464505 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1375dup (p.Val459fs) duplication Prostate cancer, hereditary, 1 [RCV002293354] Chr7:140781632..140781633 [GRCh38]
Chr7:140481432..140481433 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+237T>C single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293359] Chr7:140781339 [GRCh38]
Chr7:140481139 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1338G>T (p.Ser446=) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293360] Chr7:140781670 [GRCh38]
Chr7:140481470 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+43A>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293363] Chr7:140781533 [GRCh38]
Chr7:140481333 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+38A>C single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293364] Chr7:140781538 [GRCh38]
Chr7:140481338 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+33T>C single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293366] Chr7:140781543 [GRCh38]
Chr7:140481343 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+20A>C single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293367] Chr7:140781556 [GRCh38]
Chr7:140481356 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1342_1343insT (p.Asp448fs) insertion Prostate cancer, hereditary, 1 [RCV002293368] Chr7:140781665..140781666 [GRCh38]
Chr7:140481465..140481466 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1389T>C (p.Ile463=) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293371] Chr7:140781619 [GRCh38]
Chr7:140481419 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10204C>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293373] Chr7:140764437 [GRCh38]
Chr7:140464237 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.213G>A (p.Glu71=) single nucleotide variant not specified [RCV002281791] Chr7:140850138 [GRCh38]
Chr7:140549938 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.619C>A (p.Pro207Thr) single nucleotide variant Cardiovascular phenotype [RCV002366430] Chr7:140808052 [GRCh38]
Chr7:140507852 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1177+245_1177+247dup duplication not provided [RCV002263462] Chr7:140787300..140787301 [GRCh38]
Chr7:140487100..140487101 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1432+18del deletion Prostate cancer, hereditary, 1 [RCV002292331] Chr7:140781558 [GRCh38]
Chr7:140481358 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1426T>G (p.Trp476Gly) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292332] Chr7:140781582 [GRCh38]
Chr7:140481382 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1395del (p.Gly466fs) deletion Prostate cancer, hereditary, 1 [RCV002292333] Chr7:140781613 [GRCh38]
Chr7:140481413 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+20A>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292338] Chr7:140781556 [GRCh38]
Chr7:140481356 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1413C>T (p.Val471=) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292339] Chr7:140781595 [GRCh38]
Chr7:140481395 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1379del (p.Gly460fs) deletion Prostate cancer, hereditary, 1 [RCV002292347] Chr7:140781629 [GRCh38]
Chr7:140481429 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1371del (p.Thr458fs) deletion Prostate cancer, hereditary, 1 [RCV002292348] Chr7:140781637 [GRCh38]
Chr7:140481437 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1365del (p.Gln456fs) deletion Prostate cancer, hereditary, 1 [RCV002292349] Chr7:140781643 [GRCh38]
Chr7:140481443 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1742-13T>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292356] Chr7:140753406 [GRCh38]
Chr7:140453206 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1742-16del deletion Prostate cancer, hereditary, 1 [RCV002292357] Chr7:140753409 [GRCh38]
Chr7:140453209 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1778_1779insATG (p.Gly593_Asp594insCys) insertion Prostate cancer, hereditary, 1 [RCV002292359] Chr7:140753356..140753357 [GRCh38]
Chr7:140453156..140453157 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1860+38del deletion Prostate cancer, hereditary, 1 [RCV002292360] Chr7:140753237 [GRCh38]
Chr7:140453037 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1337C>A (p.Ser446Ter) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292361] Chr7:140781671 [GRCh38]
Chr7:140481471 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1769_1770insTTAGA (p.Val590_Lys591insTer) insertion Prostate cancer, hereditary, 1 [RCV002292364] Chr7:140753365..140753366 [GRCh38]
Chr7:140453165..140453166 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1404T>G (p.Phe468Leu) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292368] Chr7:140781604 [GRCh38]
Chr7:140481404 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1372A>C (p.Thr458Pro) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002292369] Chr7:140781636 [GRCh38]
Chr7:140481436 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_004333.6(BRAF):c.1432+128C>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293295] Chr7:140781448 [GRCh38]
Chr7:140481248 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1415A>C (p.Tyr472Ser) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293296] Chr7:140781593 [GRCh38]
Chr7:140481393 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1379G>A (p.Gly460Glu) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293297]|RASopathy [RCV003655353] Chr7:140781629 [GRCh38]
Chr7:140481429 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+304G>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293304] Chr7:140781272 [GRCh38]
Chr7:140481072 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+201A>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293310] Chr7:140781375 [GRCh38]
Chr7:140481175 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+142A>C single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293315] Chr7:140781434 [GRCh38]
Chr7:140481234 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10145T>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293331] Chr7:140764378 [GRCh38]
Chr7:140464178 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10229T>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293333] Chr7:140764462 [GRCh38]
Chr7:140464262 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10286G>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293335] Chr7:140764519 [GRCh38]
Chr7:140464319 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10295A>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293338] Chr7:140764528 [GRCh38]
Chr7:140464328 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+102C>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293353] Chr7:140781474 [GRCh38]
Chr7:140481274 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+8T>C single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293355] Chr7:140781568 [GRCh38]
Chr7:140481368 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+22A>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293358] Chr7:140781554 [GRCh38]
Chr7:140481354 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+52A>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293362] Chr7:140781524 [GRCh38]
Chr7:140481324 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+35A>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293365] Chr7:140781541 [GRCh38]
Chr7:140481341 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.443A>C (p.Asn148Thr) single nucleotide variant RASopathy [RCV002297136] Chr7:140834670 [GRCh38]
Chr7:140534470 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1203C>G (p.Thr401=) single nucleotide variant Cardiovascular phenotype [RCV002351766] Chr7:140783132 [GRCh38]
Chr7:140482932 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.80C>G (p.Ala27Gly) single nucleotide variant Cardiovascular phenotype [RCV002419475]|RASopathy [RCV003539434] Chr7:140924624 [GRCh38]
Chr7:140624424 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2020C>A (p.Leu674Met) single nucleotide variant Cardiovascular phenotype [RCV002419579] Chr7:140739919 [GRCh38]
Chr7:140439719 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1177+1073C>T single nucleotide variant not provided [RCV002263461] Chr7:140786475 [GRCh38]
Chr7:140486275 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.114T>G (p.Ala38=) single nucleotide variant Cardiovascular phenotype [RCV002452687] Chr7:140924590 [GRCh38]
Chr7:140624390 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2020C>T (p.Leu674=) single nucleotide variant Cardiovascular phenotype [RCV002419581] Chr7:140739919 [GRCh38]
Chr7:140439719 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1321C>T (p.Leu441Phe) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293300] Chr7:140781687 [GRCh38]
Chr7:140481487 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+306A>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293303] Chr7:140781270 [GRCh38]
Chr7:140481070 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1375_1376insC (p.Val459fs) insertion Prostate cancer, hereditary, 1 [RCV002293305] Chr7:140781632..140781633 [GRCh38]
Chr7:140481432..140481433 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+298T>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293306] Chr7:140781278 [GRCh38]
Chr7:140481078 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+176G>C single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293312] Chr7:140781400 [GRCh38]
Chr7:140481200 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+308T>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293316] Chr7:140781268 [GRCh38]
Chr7:140481068 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+136C>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293317] Chr7:140781440 [GRCh38]
Chr7:140481240 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+3A>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293322] Chr7:140781573 [GRCh38]
Chr7:140481373 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1432+95C>T single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293326] Chr7:140781481 [GRCh38]
Chr7:140481281 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10306G>A single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293339] Chr7:140764539 [GRCh38]
Chr7:140464339 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10389T>C single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293345] Chr7:140764622 [GRCh38]
Chr7:140464422 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10408A>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293347] Chr7:140764641 [GRCh38]
Chr7:140464441 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1695-10455A>G single nucleotide variant Prostate cancer, hereditary, 1 [RCV002293349] Chr7:140764688 [GRCh38]
Chr7:140464488 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1953T>C (p.Thr651=) single nucleotide variant Cardiovascular phenotype [RCV002421582] Chr7:140749326 [GRCh38]
Chr7:140449126 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1891A>T (p.Asn631Tyr) single nucleotide variant not provided [RCV003129096] Chr7:140749388 [GRCh38]
Chr7:140449188 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1591T>A (p.Trp531Arg) single nucleotide variant not provided [RCV003129303] Chr7:140777015 [GRCh38]
Chr7:140476815 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.1872C>T (p.Val624=) single nucleotide variant Cardiovascular phenotype [RCV002415125] Chr7:140749407 [GRCh38]
Chr7:140449207 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2111G>C (p.Arg704Thr) single nucleotide variant Lung cancer [RCV002465234] Chr7:140739828 [GRCh38]
Chr7:140439628 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.160A>G (p.Ile54Val) single nucleotide variant Cardiofaciocutaneous syndrome 1 [RCV002471358] Chr7:140850191 [GRCh38]
Chr7:140549991 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.91G>A (p.Ala31Thr) single nucleotide variant Cardiovascular phenotype [RCV002450056] Chr7:140924613 [GRCh38]
Chr7:140624413 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.901C>A (p.Pro301Thr) single nucleotide variant RASopathy [RCV002304248] Chr7:140800441 [GRCh38]
Chr7:140500241 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1162T>C (p.Phe388Leu) single nucleotide variant Cardiovascular phenotype [RCV002321240] Chr7:140787563 [GRCh38]
Chr7:140487363 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.90C>G (p.Gly30=) single nucleotide variant Cardiovascular phenotype [RCV002378624] Chr7:140924614 [GRCh38]
Chr7:140624414 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2204G>A (p.Arg735Gln) single nucleotide variant RASopathy [RCV002301460] Chr7:140734694 [GRCh38]
Chr7:140434494 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.121C>T (p.Pro41Ser) single nucleotide variant not specified [RCV003230999] Chr7:140924583 [GRCh38]
Chr7:140624383 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2231G>C (p.Ser744Thr) single nucleotide variant Cardiovascular phenotype [RCV002428254] Chr7:140734667 [GRCh38]
Chr7:140434467 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1958A>T (p.Gln653Leu) single nucleotide variant RASopathy [RCV002304948] Chr7:140749321 [GRCh38]
Chr7:140449121 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.789A>G (p.Thr263=) single nucleotide variant Cardiovascular phenotype [RCV002416603]|RASopathy [RCV003776452] Chr7:140801483 [GRCh38]
Chr7:140501283 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.102G>A (p.Ala34=) single nucleotide variant Cardiovascular phenotype [RCV002383500] Chr7:140924602 [GRCh38]
Chr7:140624402 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
NM_004333.6(BRAF):c.105C>T (p.Ala35=) single nucleotide variant Cardiovascular phenotype [RCV002401851]|RASopathy [RCV003097232] Chr7:140924599 [GRCh38]
Chr7:140624399 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.93C>A (p.Ala31=) single nucleotide variant Cardiovascular phenotype [RCV002373899] Chr7:140924611 [GRCh38]
Chr7:140624411 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1980C>T (p.Asn660=) single nucleotide variant Cardiovascular phenotype [RCV002423673]|RASopathy [RCV003655390] Chr7:140749299 [GRCh38]
Chr7:140449099 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1982A>G (p.Asn661Ser) single nucleotide variant Cardiovascular phenotype [RCV002423701] Chr7:140749297 [GRCh38]
Chr7:140449097 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1779T>C (p.Gly593=) single nucleotide variant Cardiovascular phenotype [RCV002404039] Chr7:140753356 [GRCh38]
Chr7:140453156 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1002G>A (p.Pro334=) single nucleotide variant Cardiovascular phenotype [RCV002394400]|RASopathy [RCV003095166]|not specified [RCV003403812] Chr7:140794446 [GRCh38]
Chr7:140494246 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.882C>T (p.Phe294=) single nucleotide variant Cardiovascular phenotype [RCV002373766] Chr7:140800460 [GRCh38]
Chr7:140500260 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.166T>C (p.Leu56=) single nucleotide variant Cardiovascular phenotype [RCV002403983] Chr7:140850185 [GRCh38]
Chr7:140549985 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1302C>T (p.Asp434=) single nucleotide variant Cardiovascular phenotype [RCV002380874]|RASopathy [RCV003094940] Chr7:140783033 [GRCh38]
Chr7:140482833 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.108T>G (p.Ser36=) single nucleotide variant Cardiovascular phenotype [RCV002457466] Chr7:140924596 [GRCh38]
Chr7:140624396 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1245C>T (p.Ala415=) single nucleotide variant not specified [RCV002308702] Chr7:140783090 [GRCh38]
Chr7:140482890 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.99C>A (p.Ala33=) single nucleotide variant Cardiovascular phenotype [RCV002383092] Chr7:140924605 [GRCh38]
Chr7:140624405 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.93C>G (p.Ala31=) single nucleotide variant Cardiovascular phenotype [RCV002373904]|RASopathy [RCV003094801] Chr7:140924611 [GRCh38]
Chr7:140624411 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.75C>G (p.Pro25=) single nucleotide variant Cardiovascular phenotype [RCV002394225]|RASopathy [RCV003776414] Chr7:140924629 [GRCh38]
Chr7:140624429 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.64G>T (p.Asp22Tyr) single nucleotide variant Cardiovascular phenotype [RCV002364137] Chr7:140924640 [GRCh38]
Chr7:140624440 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.702A>G (p.Thr234=) single nucleotide variant Cardiovascular phenotype [RCV002364908]|RASopathy [RCV003098451] Chr7:140807969 [GRCh38]
Chr7:140507769 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.84C>G (p.Gly28=) single nucleotide variant Cardiovascular phenotype [RCV002447704]|RASopathy [RCV003099954] Chr7:140924620 [GRCh38]
Chr7:140624420 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.123T>G (p.Pro41=) single nucleotide variant Cardiovascular phenotype [RCV002382677] Chr7:140924581 [GRCh38]
Chr7:140624381 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.305C>T (p.Ser102Phe) single nucleotide variant BRAF-related condition [RCV003408282]|Cardiovascular phenotype [RCV002444192]|RASopathy [RCV003103013] Chr7:140834808 [GRCh38]
Chr7:140534608 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.342T>C (p.Ser114=) single nucleotide variant Cardiovascular phenotype [RCV002457028]|RASopathy [RCV003099479]|not provided [RCV003434465] Chr7:140834771 [GRCh38]
Chr7:140534571 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.75C>T (p.Pro25=) single nucleotide variant Cardiovascular phenotype [RCV002394230]|RASopathy [RCV003539432] Chr7:140924629 [GRCh38]
Chr7:140624429 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1449A>G (p.Lys483=) single nucleotide variant Cardiovascular phenotype [RCV002394507] Chr7:140778059 [GRCh38]
Chr7:140477859 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1744A>G (p.Ile582Val) single nucleotide variant Cardiovascular phenotype [RCV002401450] Chr7:140753391 [GRCh38]
Chr7:140453191 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1129G>A (p.Val377Ile) single nucleotide variant Cardiovascular phenotype [RCV002326084] Chr7:140794319 [GRCh38]
Chr7:140494119 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1136T>C (p.Ile379Thr) single nucleotide variant Cardiovascular phenotype [RCV002326159] Chr7:140794312 [GRCh38]
Chr7:140494112 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.329C>G (p.Ser110Cys) single nucleotide variant Cardiovascular phenotype [RCV002326195]|RASopathy [RCV003099375] Chr7:140834784 [GRCh38]
Chr7:140534584 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1917A>G (p.Val639=) single nucleotide variant Cardiovascular phenotype [RCV002410632] Chr7:140749362 [GRCh38]
Chr7:140449162 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.294G>A (p.Gln98=) single nucleotide variant Cardiovascular phenotype [RCV002441853] Chr7:140834819 [GRCh38]
Chr7:140534619 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.87C>A (p.Ala29=) single nucleotide variant Cardiovascular phenotype [RCV002373700] Chr7:140924617 [GRCh38]
Chr7:140624417 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.108T>C (p.Ser36=) single nucleotide variant Cardiovascular phenotype [RCV002446201] Chr7:140924596 [GRCh38]
Chr7:140624396 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2213T>G (p.Phe738Cys) single nucleotide variant RASopathy [RCV002301279] Chr7:140734685 [GRCh38]
Chr7:140434485 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.106T>G (p.Ser36Ala) single nucleotide variant Cardiovascular phenotype [RCV002413258] Chr7:140924598 [GRCh38]
Chr7:140624398 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.87C>G (p.Ala29=) single nucleotide variant Cardiovascular phenotype [RCV002449785] Chr7:140924617 [GRCh38]
Chr7:140624417 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.90C>A (p.Gly30=) single nucleotide variant Cardiovascular phenotype [RCV002378623] Chr7:140924614 [GRCh38]
Chr7:140624414 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1314+9A>T single nucleotide variant RASopathy [RCV002686028] Chr7:140783012 [GRCh38]
Chr7:140482812 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1258C>T (p.Pro420Ser) single nucleotide variant not provided [RCV002462575] Chr7:140783077 [GRCh38]
Chr7:140482877 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1971A>C (p.Ser657=) single nucleotide variant RASopathy [RCV003013247] Chr7:140749308 [GRCh38]
Chr7:140449108 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1861-7C>G single nucleotide variant RASopathy [RCV002994128] Chr7:140749425 [GRCh38]
Chr7:140449225 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1518-17C>T single nucleotide variant RASopathy [RCV003033581] Chr7:140777105 [GRCh38]
Chr7:140476905 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1915G>A (p.Val639Ile) single nucleotide variant RASopathy [RCV003012578] Chr7:140749364 [GRCh38]
Chr7:140449164 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1315-12G>C single nucleotide variant RASopathy [RCV002731533] Chr7:140781705 [GRCh38]
Chr7:140481505 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.366TTC[1] (p.Ser127del) microsatellite RASopathy [RCV002685552] Chr7:140834742..140834744 [GRCh38]
Chr7:140534542..140534544 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2263A>G (p.Ile755Val) single nucleotide variant RASopathy [RCV002730668] Chr7:140734635 [GRCh38]
Chr7:140434435 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1741+14A>T single nucleotide variant RASopathy [RCV002775623] Chr7:140754173 [GRCh38]
Chr7:140453973 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1085G>T (p.Arg362Leu) single nucleotide variant RASopathy [RCV002730646] Chr7:140794363 [GRCh38]
Chr7:140494163 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1731C>G (p.Leu577=) single nucleotide variant RASopathy [RCV002815442] Chr7:140754197 [GRCh38]
Chr7:140453997 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1422A>C (p.Gly474=) single nucleotide variant RASopathy [RCV002750805] Chr7:140781586 [GRCh38]
Chr7:140481386 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1208del (p.Pro403fs) deletion RASopathy [RCV002972625] Chr7:140783127 [GRCh38]
Chr7:140482927 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2271A>T (p.Ala757=) single nucleotide variant RASopathy [RCV003032669] Chr7:140734627 [GRCh38]
Chr7:140434427 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1177+8G>C single nucleotide variant RASopathy [RCV003015098] Chr7:140787540 [GRCh38]
Chr7:140487340 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.712-19G>C single nucleotide variant RASopathy [RCV002726206] Chr7:140801579 [GRCh38]
Chr7:140501379 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1631T>C (p.Ile544Thr) single nucleotide variant RASopathy [RCV003013811] Chr7:140776975 [GRCh38]
Chr7:140476775 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.141G>T (p.Val47=) single nucleotide variant RASopathy [RCV002997022] Chr7:140850210 [GRCh38]
Chr7:140550010 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.505-20A>G single nucleotide variant RASopathy [RCV003098950] Chr7:140809015 [GRCh38]
Chr7:140508815 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.980+20C>G single nucleotide variant RASopathy [RCV002908003] Chr7:140800342 [GRCh38]
Chr7:140500142 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1201A>G (p.Thr401Ala) single nucleotide variant RASopathy [RCV002862962] Chr7:140783134 [GRCh38]
Chr7:140482934 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1441G>A (p.Ala481Thr) single nucleotide variant RASopathy [RCV002574732]|not specified [RCV002510259] Chr7:140778067 [GRCh38]
Chr7:140477867 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.712-11T>C single nucleotide variant RASopathy [RCV002914458] Chr7:140801571 [GRCh38]
Chr7:140501371 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.150C>T (p.Ile50=) single nucleotide variant RASopathy [RCV003021979] Chr7:140850201 [GRCh38]
Chr7:140550001 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.81_101del (p.Gly28_Ala34del) deletion RASopathy [RCV003081746] Chr7:140924603..140924623 [GRCh38]
Chr7:140624403..140624423 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1250A>G (p.Gln417Arg) single nucleotide variant RASopathy [RCV002623135] Chr7:140783085 [GRCh38]
Chr7:140482885 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1230A>C (p.Leu410=) single nucleotide variant RASopathy [RCV002800135] Chr7:140783105 [GRCh38]
Chr7:140482905 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1694+11T>C single nucleotide variant RASopathy [RCV002569654] Chr7:140776901 [GRCh38]
Chr7:140476701 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1314+1G>T single nucleotide variant RASopathy [RCV002847765] Chr7:140783020 [GRCh38]
Chr7:140482820 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2127+11G>A single nucleotide variant RASopathy [RCV002640569] Chr7:140739801 [GRCh38]
Chr7:140439601 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1536T>C (p.Asn512=) single nucleotide variant RASopathy [RCV003019805] Chr7:140777070 [GRCh38]
Chr7:140476870 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1695-16A>T single nucleotide variant RASopathy [RCV002569528] Chr7:140754249 [GRCh38]
Chr7:140454049 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.650T>A (p.Leu217His) single nucleotide variant RASopathy [RCV003035709] Chr7:140808021 [GRCh38]
Chr7:140507821 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.504+8A>C single nucleotide variant RASopathy [RCV003077857] Chr7:140834601 [GRCh38]
Chr7:140534401 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2010A>T (p.Gly670=) single nucleotide variant RASopathy [RCV003079359] Chr7:140739929 [GRCh38]
Chr7:140439729 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1087T>G (p.Ser363Ala) single nucleotide variant RASopathy [RCV002735958] Chr7:140794361 [GRCh38]
Chr7:140494161 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.68T>G (p.Met23Arg) single nucleotide variant RASopathy [RCV002756878] Chr7:140924636 [GRCh38]
Chr7:140624436 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2065A>G (p.Met689Val) single nucleotide variant RASopathy [RCV003019167] Chr7:140739874 [GRCh38]
Chr7:140439674 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.240+13G>A single nucleotide variant RASopathy [RCV003054268] Chr7:140850098 [GRCh38]
Chr7:140549898 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1200T>A (p.Ala400=) single nucleotide variant RASopathy [RCV003002776] Chr7:140783135 [GRCh38]
Chr7:140482935 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.950C>G (p.Ser317Cys) single nucleotide variant RASopathy [RCV002795750] Chr7:140800392 [GRCh38]
Chr7:140500192 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.822A>C (p.Thr274=) single nucleotide variant RASopathy [RCV002571052] Chr7:140801450 [GRCh38]
Chr7:140501250 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.934C>G (p.Leu312Val) single nucleotide variant RASopathy [RCV002949048] Chr7:140800408 [GRCh38]
Chr7:140500208 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1433-9G>A single nucleotide variant RASopathy [RCV002592155] Chr7:140778084 [GRCh38]
Chr7:140477884 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.231A>G (p.Ile77Met) single nucleotide variant RASopathy [RCV002820949] Chr7:140850120 [GRCh38]
Chr7:140549920 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1742-12A>G single nucleotide variant RASopathy [RCV002592849] Chr7:140753405 [GRCh38]
Chr7:140453205 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1004C>T (p.Ser335Phe) single nucleotide variant RASopathy [RCV002659363] Chr7:140794444 [GRCh38]
Chr7:140494244 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2296_2298del (p.His766del) deletion RASopathy [RCV002848392] Chr7:140734600..140734602 [GRCh38]
Chr7:140434400..140434402 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1993-10C>G single nucleotide variant RASopathy [RCV002824748] Chr7:140739956 [GRCh38]
Chr7:140439756 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.697A>G (p.Thr233Ala) single nucleotide variant RASopathy [RCV003037981] Chr7:140807974 [GRCh38]
Chr7:140507774 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.443A>G (p.Asn148Ser) single nucleotide variant RASopathy [RCV003054402] Chr7:140834670 [GRCh38]
Chr7:140534470 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1244C>G (p.Ala415Gly) single nucleotide variant RASopathy [RCV002913097] Chr7:140783091 [GRCh38]
Chr7:140482891 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1861-15T>C single nucleotide variant RASopathy [RCV002695534] Chr7:140749433 [GRCh38]
Chr7:140449233 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.696T>C (p.Leu232=) single nucleotide variant RASopathy [RCV002872344] Chr7:140807975 [GRCh38]
Chr7:140507775 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2253A>G (p.Pro751=) single nucleotide variant RASopathy [RCV003056562] Chr7:140734645 [GRCh38]
Chr7:140434445 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.504+18T>C single nucleotide variant RASopathy [RCV002985731] Chr7:140834591 [GRCh38]
Chr7:140534391 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1219C>A (p.Pro407Thr) single nucleotide variant RASopathy [RCV002593948] Chr7:140783116 [GRCh38]
Chr7:140482916 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.42G>A (p.Pro14=) single nucleotide variant RASopathy [RCV003024680] Chr7:140924662 [GRCh38]
Chr7:140624462 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.346T>G (p.Ser116Ala) single nucleotide variant RASopathy [RCV002664091] Chr7:140834767 [GRCh38]
Chr7:140534567 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2134G>T (p.Ala712Ser) single nucleotide variant RASopathy [RCV002640700] Chr7:140734764 [GRCh38]
Chr7:140434564 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.860+17T>C single nucleotide variant RASopathy [RCV002626761] Chr7:140801395 [GRCh38]
Chr7:140501195 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1993-10dup duplication BRAF-related condition [RCV003963715]|RASopathy [RCV002624957] Chr7:140739955..140739956 [GRCh38]
Chr7:140439755..140439756 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.960A>G (p.Ala320=) single nucleotide variant RASopathy [RCV003083558] Chr7:140800382 [GRCh38]
Chr7:140500182 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1432+8T>A single nucleotide variant RASopathy [RCV002801851] Chr7:140781568 [GRCh38]
Chr7:140481368 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.24T>G (p.Gly8=) single nucleotide variant RASopathy [RCV003058590] Chr7:140924680 [GRCh38]
Chr7:140624480 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.963C>T (p.Pro321=) single nucleotide variant RASopathy [RCV002891047] Chr7:140800379 [GRCh38]
Chr7:140500179 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.245A>G (p.Tyr82Cys) single nucleotide variant RASopathy [RCV003083474] Chr7:140834868 [GRCh38]
Chr7:140534668 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.93C>T (p.Ala31=) single nucleotide variant RASopathy [RCV003082073] Chr7:140924611 [GRCh38]
Chr7:140624411 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1315-13_1315-12delinsCT indel RASopathy [RCV002700366] Chr7:140781705..140781706 [GRCh38]
Chr7:140481505..140481506 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.27_32dup (p.Gly11_Ala12insGlyGly) duplication RASopathy [RCV002829045]|not provided [RCV003332385] Chr7:140924671..140924672 [GRCh38]
Chr7:140624471..140624472 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1315-9T>C single nucleotide variant RASopathy [RCV002825646] Chr7:140781702 [GRCh38]
Chr7:140481502 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2176C>T (p.Arg726Cys) single nucleotide variant RASopathy [RCV002802058] Chr7:140734722 [GRCh38]
Chr7:140434522 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.119A>C (p.Asp40Ala) single nucleotide variant Inborn genetic diseases [RCV002699871] Chr7:140924585 [GRCh38]
Chr7:140624385 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1076A>G (p.Gln359Arg) single nucleotide variant RASopathy [RCV003046261] Chr7:140794372 [GRCh38]
Chr7:140494172 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1672C>T (p.Arg558Ter) single nucleotide variant RASopathy [RCV003086813] Chr7:140776934 [GRCh38]
Chr7:140476734 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.943G>A (p.Gly315Arg) single nucleotide variant RASopathy [RCV003090990]|not provided [RCV003228116] Chr7:140800399 [GRCh38]
Chr7:140500199 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.609-18T>G single nucleotide variant RASopathy [RCV003064131] Chr7:140808080 [GRCh38]
Chr7:140507880 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1860+8T>C single nucleotide variant RASopathy [RCV002582176] Chr7:140753267 [GRCh38]
Chr7:140453067 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1177+11A>C single nucleotide variant RASopathy [RCV002650906] Chr7:140787537 [GRCh38]
Chr7:140487337 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.99C>G (p.Ala33=) single nucleotide variant RASopathy [RCV003048886] Chr7:140924605 [GRCh38]
Chr7:140624405 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1314+4A>G single nucleotide variant RASopathy [RCV003089678] Chr7:140783017 [GRCh38]
Chr7:140482817 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1741+16T>C single nucleotide variant RASopathy [RCV003048958] Chr7:140754171 [GRCh38]
Chr7:140453971 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1177+18G>A single nucleotide variant RASopathy [RCV002715590] Chr7:140787530 [GRCh38]
Chr7:140487330 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.302A>G (p.Glu101Gly) single nucleotide variant RASopathy [RCV003028804] Chr7:140834811 [GRCh38]
Chr7:140534611 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.600dup (p.Gln201fs) duplication RASopathy [RCV002832921] Chr7:140808899..140808900 [GRCh38]
Chr7:140508699..140508700 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.349A>G (p.Met117Val) single nucleotide variant RASopathy [RCV003063535] Chr7:140834764 [GRCh38]
Chr7:140534564 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1433-4T>G single nucleotide variant RASopathy [RCV003009248] Chr7:140778079 [GRCh38]
Chr7:140477879 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1262G>C (p.Gly421Ala) single nucleotide variant RASopathy [RCV002792086] Chr7:140783073 [GRCh38]
Chr7:140482873 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1178-7A>G single nucleotide variant RASopathy [RCV002716856] Chr7:140783164 [GRCh38]
Chr7:140482964 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.609-6T>C single nucleotide variant RASopathy [RCV002966367] Chr7:140808068 [GRCh38]
Chr7:140507868 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1910C>T (p.Ser637Leu) single nucleotide variant RASopathy [RCV003047264] Chr7:140749369 [GRCh38]
Chr7:140449169 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1398A>G (p.Gly466=) single nucleotide variant RASopathy [RCV002600552] Chr7:140781610 [GRCh38]
Chr7:140481410 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2231G>A (p.Ser744Asn) single nucleotide variant RASopathy [RCV002647483] Chr7:140734667 [GRCh38]
Chr7:140434467 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.975T>C (p.Ser325=) single nucleotide variant RASopathy [RCV002988503] Chr7:140800367 [GRCh38]
Chr7:140500167 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.276C>T (p.Leu92=) single nucleotide variant RASopathy [RCV002895641] Chr7:140834837 [GRCh38]
Chr7:140534637 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.592T>C (p.Tyr198His) single nucleotide variant RASopathy [RCV002578504] Chr7:140808908 [GRCh38]
Chr7:140508708 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1861-17T>A single nucleotide variant RASopathy [RCV003063698] Chr7:140749435 [GRCh38]
Chr7:140449235 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.441C>T (p.Ser147=) single nucleotide variant RASopathy [RCV002922662] Chr7:140834672 [GRCh38]
Chr7:140534472 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.964G>A (p.Ala322Thr) single nucleotide variant RASopathy [RCV003087701] Chr7:140800378 [GRCh38]
Chr7:140500178 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2075T>C (p.Leu692Ser) single nucleotide variant RASopathy [RCV002939084] Chr7:140739864 [GRCh38]
Chr7:140439664 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2077_2078dup (p.Met693fs) duplication RASopathy [RCV002963336] Chr7:140739860..140739861 [GRCh38]
Chr7:140439660..140439661 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.754C>G (p.Arg252Gly) single nucleotide variant RASopathy [RCV003048923] Chr7:140801518 [GRCh38]
Chr7:140501318 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1040G>A (p.Arg347Gln) single nucleotide variant RASopathy [RCV002605004] Chr7:140794408 [GRCh38]
Chr7:140494208 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.861-6T>A single nucleotide variant RASopathy [RCV003069672] Chr7:140800487 [GRCh38]
Chr7:140500287 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.71A>C (p.Glu24Ala) single nucleotide variant RASopathy [RCV003069245] Chr7:140924633 [GRCh38]
Chr7:140624433 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1742-7A>C single nucleotide variant RASopathy [RCV002584934] Chr7:140753400 [GRCh38]
Chr7:140453200 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.55T>C (p.Phe19Leu) single nucleotide variant RASopathy [RCV002944118] Chr7:140924649 [GRCh38]
Chr7:140624449 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1993-8C>T single nucleotide variant RASopathy [RCV002584060] Chr7:140739954 [GRCh38]
Chr7:140439754 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1418A>G (p.Lys473Arg) single nucleotide variant RASopathy [RCV002585865] Chr7:140781590 [GRCh38]
Chr7:140481390 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1400C>T (p.Ser467Leu) single nucleotide variant RASopathy [RCV002583696] Chr7:140781608 [GRCh38]
Chr7:140481408 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2005G>A (p.Val669Met) single nucleotide variant Inborn genetic diseases [RCV002722757] Chr7:140739934 [GRCh38]
Chr7:140439734 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.33C>T (p.Gly11=) single nucleotide variant RASopathy [RCV002604065] Chr7:140924671 [GRCh38]
Chr7:140624471 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1860+10G>A single nucleotide variant RASopathy [RCV002589937] Chr7:140753265 [GRCh38]
Chr7:140453065 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1178-3T>C single nucleotide variant RASopathy [RCV003071077] Chr7:140783160 [GRCh38]
Chr7:140482960 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1741+9C>T single nucleotide variant RASopathy [RCV003071268] Chr7:140754178 [GRCh38]
Chr7:140453978 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1140+13C>T single nucleotide variant RASopathy [RCV003093287] Chr7:140794295 [GRCh38]
Chr7:140494095 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1694+9C>G single nucleotide variant RASopathy [RCV003052011] Chr7:140776903 [GRCh38]
Chr7:140476703 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.573C>T (p.Ile191=) single nucleotide variant RASopathy [RCV002588108] Chr7:140808927 [GRCh38]
Chr7:140508727 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1209del (p.Ala404fs) deletion not provided [RCV003218980] Chr7:140783126 [GRCh38]
Chr7:140482926 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2044C>T (p.Arg682Trp) single nucleotide variant RASopathy [RCV003539479]|not provided [RCV003223267] Chr7:140739895 [GRCh38]
Chr7:140439695 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2127+4A>G single nucleotide variant Inborn genetic diseases [RCV003200587] Chr7:140739808 [GRCh38]
Chr7:140439608 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1260A>G (p.Pro420=) single nucleotide variant Cardiovascular phenotype [RCV003177412] Chr7:140783075 [GRCh38]
Chr7:140482875 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.389T>G (p.Val130Gly) single nucleotide variant Cardiovascular phenotype [RCV003177415] Chr7:140834724 [GRCh38]
Chr7:140534524 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1084C>T (p.Arg362Ter) single nucleotide variant not provided [RCV003141673] Chr7:140794364 [GRCh38]
Chr7:140494164 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.981-200A>C single nucleotide variant not provided [RCV003223269] Chr7:140794667 [GRCh38]
Chr7:140494467 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1799_1800delinsAC (p.Val600Asp) indel Melanoma [RCV003222500] Chr7:140753335..140753336 [GRCh38]
Chr7:140453135..140453136 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001374258.1(BRAF):c.*124C>T single nucleotide variant not provided [RCV003223266] Chr7:140726370 [GRCh38]
Chr7:140426170 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1140+3314C>T single nucleotide variant not provided [RCV003223268] Chr7:140790994 [GRCh38]
Chr7:140490794 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1396G>C (p.Gly466Arg) single nucleotide variant not provided [RCV003228320] Chr7:140781612 [GRCh38]
Chr7:140481412 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.1933G>C (p.Val645Leu) single nucleotide variant not provided [RCV003228413] Chr7:140749346 [GRCh38]
Chr7:140449146 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.372C>G (p.Ser124=) single nucleotide variant Cardiovascular phenotype [RCV003177413] Chr7:140834741 [GRCh38]
Chr7:140534541 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.345A>T (p.Ala115=) single nucleotide variant Cardiovascular phenotype [RCV003177414]|RASopathy [RCV003539475] Chr7:140834768 [GRCh38]
Chr7:140534568 [GRCh37]
Chr7:7q34		 likely benign
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
NM_004333.6(BRAF):c.112G>T (p.Ala38Ser) single nucleotide variant not provided [RCV003318973] Chr7:140924592 [GRCh38]
Chr7:140624392 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.138+80G>A single nucleotide variant not provided [RCV003327274] Chr7:140924486 [GRCh38]
Chr7:140624286 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1315-407A>G single nucleotide variant not provided [RCV003423778] Chr7:140782100 [GRCh38]
Chr7:140481900 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1140+3283G>A single nucleotide variant not provided [RCV003423789] Chr7:140791025 [GRCh38]
Chr7:140490825 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.981-1309A>G single nucleotide variant not provided [RCV003423795] Chr7:140795776 [GRCh38]
Chr7:140495576 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.980+1615C>T single nucleotide variant not provided [RCV003423799] Chr7:140798747 [GRCh38]
Chr7:140498547 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1140+1204T>C single nucleotide variant not provided [RCV003327273] Chr7:140793104 [GRCh38]
Chr7:140492904 [GRCh37]
Chr7:7q34		 benign
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1 copy number loss not provided [RCV003334300] Chr7:140154317..152551638 [GRCh37]
Chr7:7q34-36.1		 pathogenic
NM_004333.6(BRAF):c.1799_1810delinsATG (p.Val600_Trp604delinsAspGly) indel Lymphatic malformation [RCV003445403] Chr7:140753325..140753336 [GRCh38]
Chr7:140453125..140453136 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.2296C>T (p.His766Tyr) single nucleotide variant RASopathy [RCV003875127] Chr7:140734602 [GRCh38]
Chr7:140434402 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.74C>T (p.Pro25Leu) single nucleotide variant not provided [RCV003481867] Chr7:140924630 [GRCh38]
Chr7:140624430 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1178-896A>G single nucleotide variant not provided [RCV003423779] Chr7:140784053 [GRCh38]
Chr7:140483853 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1177+1386G>A single nucleotide variant not provided [RCV003423782] Chr7:140786162 [GRCh38]
Chr7:140485962 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1140+815A>G single nucleotide variant not provided [RCV003423793] Chr7:140793493 [GRCh38]
Chr7:140493293 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.980+2064A>G single nucleotide variant not provided [RCV003423798] Chr7:140798298 [GRCh38]
Chr7:140498098 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.518G>A (p.Cys173Tyr) single nucleotide variant BRAF-related condition [RCV003397809] Chr7:140808982 [GRCh38]
Chr7:140508782 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1178-1374C>G single nucleotide variant not provided [RCV003434157] Chr7:140784531 [GRCh38]
Chr7:140484331 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1140+2154G>T single nucleotide variant not provided [RCV003434175] Chr7:140792154 [GRCh38]
Chr7:140491954 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.981-1315dup duplication not provided [RCV003434183] Chr7:140795781..140795782 [GRCh38]
Chr7:140495581..140495582 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.980+2726G>T single nucleotide variant not provided [RCV003434187] Chr7:140797636 [GRCh38]
Chr7:140497436 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.980+812T>C single nucleotide variant not provided [RCV003434194] Chr7:140799550 [GRCh38]
Chr7:140499350 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_004333.6(BRAF):c.1141-632A>G single nucleotide variant not provided [RCV003423784] Chr7:140788216 [GRCh38]
Chr7:140488016 [GRCh37]
Chr7:7q34		 likely benign
NC_000007.14:g.140798273_140798276T[4]CTTTTTTTTTTT[1] microsatellite not provided [RCV003423797] Chr7:140798272..140798273 [GRCh38]
Chr7:140498072..140498073 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1141-465C>T single nucleotide variant not provided [RCV003434163] Chr7:140788049 [GRCh38]
Chr7:140487849 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1140+188C>T single nucleotide variant not provided [RCV003434177] Chr7:140794120 [GRCh38]
Chr7:140493920 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.981-1264A>G single nucleotide variant not provided [RCV003434182] Chr7:140795731 [GRCh38]
Chr7:140495531 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.980+2809G>A single nucleotide variant not provided [RCV003434186] Chr7:140797553 [GRCh38]
Chr7:140497353 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.980+1670G>A single nucleotide variant not provided [RCV003434192] Chr7:140798692 [GRCh38]
Chr7:140498492 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.973T>C (p.Ser325Pro) single nucleotide variant BRAF-related condition [RCV003404187] Chr7:140800369 [GRCh38]
Chr7:140500169 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1580T>C (p.Ile527Thr) single nucleotide variant BRAF-related condition [RCV003404704] Chr7:140777026 [GRCh38]
Chr7:140476826 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1315-105C>G single nucleotide variant not provided [RCV003423776] Chr7:140781798 [GRCh38]
Chr7:140481598 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1140+2738G>A single nucleotide variant not provided [RCV003423791] Chr7:140791570 [GRCh38]
Chr7:140491370 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.980+2523T>A single nucleotide variant not provided [RCV003423796] Chr7:140797839 [GRCh38]
Chr7:140497639 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1178-1093G>T single nucleotide variant not provided [RCV003434155] Chr7:140784250 [GRCh38]
Chr7:140484050 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1141-2721A>G single nucleotide variant not provided [RCV003434169] Chr7:140790305 [GRCh38]
Chr7:140490105 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1141-3287G>A single nucleotide variant not provided [RCV003434170] Chr7:140790871 [GRCh38]
Chr7:140490671 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1140+2410A>G single nucleotide variant not provided [RCV003434172] Chr7:140791898 [GRCh38]
Chr7:140491698 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.981-437A>G single nucleotide variant not provided [RCV003434179] Chr7:140794904 [GRCh38]
Chr7:140494704 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.981-2805G>C single nucleotide variant not provided [RCV003434184] Chr7:140797272 [GRCh38]
Chr7:140497072 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.980+601T>C single nucleotide variant not provided [RCV003434195] Chr7:140799761 [GRCh38]
Chr7:140499561 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.870T>G (p.Phe290Leu) single nucleotide variant BRAF-related condition [RCV003408428] Chr7:140800472 [GRCh38]
Chr7:140500272 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2290C>T (p.Pro764Ser) single nucleotide variant not provided [RCV003434150] Chr7:140734608 [GRCh38]
Chr7:140434408 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1178-946_1178-943dup duplication not provided [RCV003434154] Chr7:140784099..140784100 [GRCh38]
Chr7:140483899..140483900 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1178-1954dup duplication not provided [RCV003434158] Chr7:140785110..140785111 [GRCh38]
Chr7:140484910..140484911 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1141-137T>C single nucleotide variant not provided [RCV003434162] Chr7:140787721 [GRCh38]
Chr7:140487521 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1141-1946G>A single nucleotide variant not provided [RCV003434168] Chr7:140789530 [GRCh38]
Chr7:140489330 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1140+2553_1140+2554del microsatellite not provided [RCV003434171] Chr7:140791754..140791755 [GRCh38]
Chr7:140491554..140491555 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.980+2510T>A single nucleotide variant not provided [RCV003434188] Chr7:140797852 [GRCh38]
Chr7:140497652 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.980+1221G>A single nucleotide variant not provided [RCV003434193] Chr7:140799141 [GRCh38]
Chr7:140498941 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.980+483C>A single nucleotide variant not provided [RCV003434196] Chr7:140799879 [GRCh38]
Chr7:140499679 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1177+1621C>T single nucleotide variant not provided [RCV003423781] Chr7:140785927 [GRCh38]
Chr7:140485727 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1141-370C>T single nucleotide variant not provided [RCV003423783] Chr7:140787954 [GRCh38]
Chr7:140487754 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1140+3107C>T single nucleotide variant not provided [RCV003423790] Chr7:140791201 [GRCh38]
Chr7:140491001 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1140+804_1140+805insTA insertion not provided [RCV003423794] Chr7:140793503..140793504 [GRCh38]
Chr7:140493303..140493304 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1178-1184C>T single nucleotide variant not provided [RCV003434156] Chr7:140784341 [GRCh38]
Chr7:140484141 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1141-58C>T single nucleotide variant not provided [RCV003434161] Chr7:140787642 [GRCh38]
Chr7:140487442 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1140+2236T>C single nucleotide variant not provided [RCV003434173] Chr7:140792072 [GRCh38]
Chr7:140491872 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.981-2908A>G single nucleotide variant not provided [RCV003434185] Chr7:140797375 [GRCh38]
Chr7:140497175 [GRCh37]
Chr7:7q34		 benign|likely benign
NC_000007.14:g.140798273_140798279T[7]CTTTTTTTTTTT[1] microsatellite not provided [RCV003434190] Chr7:140798272..140798273 [GRCh38]
Chr7:140498072..140498073 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1141-529G>T single nucleotide variant not provided [RCV003434164] Chr7:140788113 [GRCh38]
Chr7:140487913 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.553C>G (p.Leu185Val) single nucleotide variant BRAF-related condition [RCV003412373] Chr7:140808947 [GRCh38]
Chr7:140508747 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1315-131T>C single nucleotide variant not provided [RCV003423777] Chr7:140781824 [GRCh38]
Chr7:140481624 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1141-1792A>G single nucleotide variant not provided [RCV003423785] Chr7:140789376 [GRCh38]
Chr7:140489176 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1177+1932C>T single nucleotide variant not provided [RCV003423780] Chr7:140785616 [GRCh38]
Chr7:140485416 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1141-1927C>T single nucleotide variant not provided [RCV003423786] Chr7:140789511 [GRCh38]
Chr7:140489311 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1141-2047A>G single nucleotide variant not provided [RCV003423787] Chr7:140789631 [GRCh38]
Chr7:140489431 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1141-2272C>T single nucleotide variant not provided [RCV003423788] Chr7:140789856 [GRCh38]
Chr7:140489656 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1140+1346A>G single nucleotide variant not provided [RCV003423792] Chr7:140792962 [GRCh38]
Chr7:140492762 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1315-305C>T single nucleotide variant not provided [RCV003434151] Chr7:140781998 [GRCh38]
Chr7:140481798 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1315-388G>T single nucleotide variant not provided [RCV003434152] Chr7:140782081 [GRCh38]
Chr7:140481881 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1177+2114C>T single nucleotide variant not provided [RCV003434160] Chr7:140785434 [GRCh38]
Chr7:140485234 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1141-563A>T single nucleotide variant not provided [RCV003434165] Chr7:140788147 [GRCh38]
Chr7:140487947 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1140+2157A>G single nucleotide variant not provided [RCV003434174] Chr7:140792151 [GRCh38]
Chr7:140491951 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.981-967A>G single nucleotide variant not provided [RCV003434181] Chr7:140795434 [GRCh38]
Chr7:140495234 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.980+1809del deletion not provided [RCV003434191] Chr7:140798553 [GRCh38]
Chr7:140498353 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1189G>A (p.Gly397Ser) single nucleotide variant not specified [RCV003404951] Chr7:140783146 [GRCh38]
Chr7:140482946 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.741T>A (p.Phe247Leu) single nucleotide variant Noonan syndrome 1 [RCV003454374] Chr7:140801531 [GRCh38]
Chr7:140501331 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.1081G>A (p.Asp361Asn) single nucleotide variant not provided [RCV003441426] Chr7:140794367 [GRCh38]
Chr7:140494167 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1178-860T>G single nucleotide variant not provided [RCV003434153] Chr7:140784017 [GRCh38]
Chr7:140483817 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1177+2192T>G single nucleotide variant not provided [RCV003434159] Chr7:140785356 [GRCh38]
Chr7:140485156 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1141-1346C>T single nucleotide variant not provided [RCV003434166] Chr7:140788930 [GRCh38]
Chr7:140488730 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1141-1355C>T single nucleotide variant not provided [RCV003434167] Chr7:140788939 [GRCh38]
Chr7:140488739 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.1140+475G>T single nucleotide variant not provided [RCV003434176] Chr7:140793833 [GRCh38]
Chr7:140493633 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.981-261A>T single nucleotide variant not provided [RCV003434178] Chr7:140794728 [GRCh38]
Chr7:140494528 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_004333.6(BRAF):c.981-811C>T single nucleotide variant not provided [RCV003434180] Chr7:140795278 [GRCh38]
Chr7:140495078 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.980+2099del deletion not provided [RCV003434189] Chr7:140798263 [GRCh38]
Chr7:140498063 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1993A>G (p.Ile665Val) single nucleotide variant RASopathy [RCV003882714] Chr7:140739946 [GRCh38]
Chr7:140439746 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2128-13T>C single nucleotide variant RASopathy [RCV003831287] Chr7:140734783 [GRCh38]
Chr7:140434583 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.679T>A (p.Leu227Met) single nucleotide variant RASopathy [RCV003654458] Chr7:140807992 [GRCh38]
Chr7:140507792 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.187G>A (p.Ala63Thr) single nucleotide variant RASopathy [RCV003654460] Chr7:140850164 [GRCh38]
Chr7:140549964 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1936C>G (p.Leu646Val) single nucleotide variant RASopathy [RCV003654477] Chr7:140749343 [GRCh38]
Chr7:140449143 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1029A>G (p.Pro343=) single nucleotide variant RASopathy [RCV003654491] Chr7:140794419 [GRCh38]
Chr7:140494219 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1741+19G>T single nucleotide variant RASopathy [RCV003654493] Chr7:140754168 [GRCh38]
Chr7:140453968 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.104C>A (p.Ala35Asp) single nucleotide variant RASopathy [RCV003654494] Chr7:140924600 [GRCh38]
Chr7:140624400 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.88G>A (p.Gly30Ser) single nucleotide variant RASopathy [RCV003877622] Chr7:140924616 [GRCh38]
Chr7:140624416 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1741+17T>C single nucleotide variant RASopathy [RCV003828080] Chr7:140754170 [GRCh38]
Chr7:140453970 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2128-6_2128-5insTTTTTTTTTC microsatellite RASopathy [RCV003878434] Chr7:140734775..140734776 [GRCh38]
Chr7:140434575..140434576 [GRCh37]
Chr7:7q34		 likely benign
GRCh38/hg38 7q34(chr7:140901060-141011481) copy number gain Autism spectrum disorder [RCV003883411] Chr7:140901060..141011481 [GRCh38]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1993-20C>A single nucleotide variant RASopathy [RCV003876452] Chr7:140739966 [GRCh38]
Chr7:140439766 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1264C>T (p.Pro422Ser) single nucleotide variant RASopathy [RCV003876096] Chr7:140783071 [GRCh38]
Chr7:140482871 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.138+4A>G single nucleotide variant RASopathy [RCV003655875] Chr7:140924562 [GRCh38]
Chr7:140624362 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.88G>T (p.Gly30Cys) single nucleotide variant RASopathy [RCV003655995] Chr7:140924616 [GRCh38]
Chr7:140624416 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.933C>A (p.Ala311=) single nucleotide variant RASopathy [RCV003656036] Chr7:140800409 [GRCh38]
Chr7:140500209 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.579G>A (p.Glu193=) single nucleotide variant RASopathy [RCV003655965] Chr7:140808921 [GRCh38]
Chr7:140508721 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.651T>C (p.Leu217=) single nucleotide variant RASopathy [RCV003656051] Chr7:140808020 [GRCh38]
Chr7:140507820 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2084A>G (p.Glu695Gly) single nucleotide variant RASopathy [RCV003656072] Chr7:140739855 [GRCh38]
Chr7:140439655 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.504+7C>T single nucleotide variant RASopathy [RCV003654621] Chr7:140834602 [GRCh38]
Chr7:140534402 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.97G>C (p.Ala33Pro) single nucleotide variant RASopathy [RCV003654629] Chr7:140924607 [GRCh38]
Chr7:140624407 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1861-18C>G single nucleotide variant RASopathy [RCV003852582] Chr7:140749436 [GRCh38]
Chr7:140449236 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1861-3C>T single nucleotide variant RASopathy [RCV003654790] Chr7:140749421 [GRCh38]
Chr7:140449221 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1177+13T>C single nucleotide variant RASopathy [RCV003654823] Chr7:140787535 [GRCh38]
Chr7:140487335 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1517+6C>T single nucleotide variant RASopathy [RCV003654884] Chr7:140777985 [GRCh38]
Chr7:140477785 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1364G>A (p.Gly455Glu) single nucleotide variant RASopathy [RCV003655476] Chr7:140781644 [GRCh38]
Chr7:140481444 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1365G>T (p.Gly455=) single nucleotide variant RASopathy [RCV003834328] Chr7:140781643 [GRCh38]
Chr7:140481443 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.740T>G (p.Phe247Cys) single nucleotide variant RASopathy [RCV003655463] Chr7:140801532 [GRCh38]
Chr7:140501332 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1742A>T (p.Asn581Ile) single nucleotide variant RASopathy [RCV003655575] Chr7:140753393 [GRCh38]
Chr7:140453193 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1864C>T (p.Pro622Ser) single nucleotide variant RASopathy [RCV003655591] Chr7:140749415 [GRCh38]
Chr7:140449215 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.205G>A (p.Gly69Ser) single nucleotide variant RASopathy [RCV003655648] Chr7:140850146 [GRCh38]
Chr7:140549946 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.915G>T (p.Ala305=) single nucleotide variant RASopathy [RCV003655620] Chr7:140800427 [GRCh38]
Chr7:140500227 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.531C>T (p.Val177=) single nucleotide variant RASopathy [RCV003656022] Chr7:140808969 [GRCh38]
Chr7:140508769 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2285C>T (p.Ala762Val) single nucleotide variant RASopathy [RCV003539639] Chr7:140734613 [GRCh38]
Chr7:140434413 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.94G>A (p.Gly32Ser) single nucleotide variant RASopathy [RCV003654575] Chr7:140924610 [GRCh38]
Chr7:140624410 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.249A>G (p.Glu83=) single nucleotide variant RASopathy [RCV003654591] Chr7:140834864 [GRCh38]
Chr7:140534664 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2039A>G (p.Lys680Arg) single nucleotide variant RASopathy [RCV003654585] Chr7:140739900 [GRCh38]
Chr7:140439700 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1431T>C (p.His477=) single nucleotide variant RASopathy [RCV003654644] Chr7:140781577 [GRCh38]
Chr7:140481377 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1314+14A>G single nucleotide variant RASopathy [RCV003654646] Chr7:140783007 [GRCh38]
Chr7:140482807 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1920T>C (p.Tyr640=) single nucleotide variant RASopathy [RCV003654657] Chr7:140749359 [GRCh38]
Chr7:140449159 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.980+4T>C single nucleotide variant RASopathy [RCV003654660] Chr7:140800358 [GRCh38]
Chr7:140500158 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1354A>C (p.Ile452Leu) single nucleotide variant RASopathy [RCV003655605] Chr7:140781654 [GRCh38]
Chr7:140481454 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1861-15T>G single nucleotide variant RASopathy [RCV003539508] Chr7:140749433 [GRCh38]
Chr7:140449233 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1521A>G (p.Lys507=) single nucleotide variant RASopathy [RCV003539510] Chr7:140777085 [GRCh38]
Chr7:140476885 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.816T>C (p.Cys272=) single nucleotide variant RASopathy [RCV003832095] Chr7:140801456 [GRCh38]
Chr7:140501256 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2195C>T (p.Ser732Phe) single nucleotide variant RASopathy [RCV003654725] Chr7:140734703 [GRCh38]
Chr7:140434503 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.30C>T (p.Gly10=) single nucleotide variant RASopathy [RCV003655715] Chr7:140924674 [GRCh38]
Chr7:140624474 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1800G>C (p.Val600=) single nucleotide variant RASopathy [RCV003655742] Chr7:140753335 [GRCh38]
Chr7:140453135 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1117A>G (p.Thr373Ala) single nucleotide variant RASopathy [RCV003539525] Chr7:140794331 [GRCh38]
Chr7:140494131 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.348A>T (p.Ser116=) single nucleotide variant RASopathy [RCV003539564] Chr7:140834765 [GRCh38]
Chr7:140534565 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1932T>C (p.Ile644=) single nucleotide variant BRAF-related condition [RCV003948999]|RASopathy [RCV003654800] Chr7:140749347 [GRCh38]
Chr7:140449147 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.221C>T (p.Pro74Leu) single nucleotide variant RASopathy [RCV003655808] Chr7:140850130 [GRCh38]
Chr7:140549930 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2087G>A (p.Cys696Tyr) single nucleotide variant RASopathy [RCV003539570] Chr7:140739852 [GRCh38]
Chr7:140439652 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.345A>G (p.Ala115=) single nucleotide variant RASopathy [RCV003654821] Chr7:140834768 [GRCh38]
Chr7:140534568 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.898A>C (p.Ile300Leu) single nucleotide variant RASopathy [RCV003655853] Chr7:140800444 [GRCh38]
Chr7:140500244 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1392A>G (p.Gly464=) single nucleotide variant RASopathy [RCV003655891] Chr7:140781616 [GRCh38]
Chr7:140481416 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.649C>T (p.Leu217Phe) single nucleotide variant RASopathy [RCV003655906] Chr7:140808022 [GRCh38]
Chr7:140507822 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.972C>T (p.Asp324=) single nucleotide variant RASopathy [RCV003655936] Chr7:140800370 [GRCh38]
Chr7:140500170 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2004G>C (p.Met668Ile) single nucleotide variant RASopathy [RCV003539550] Chr7:140739935 [GRCh38]
Chr7:140439735 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.694C>G (p.Leu232Val) single nucleotide variant RASopathy [RCV003655981] Chr7:140807977 [GRCh38]
Chr7:140507777 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1518-20T>C single nucleotide variant RASopathy [RCV003539616] Chr7:140777108 [GRCh38]
Chr7:140476908 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1500T>C (p.Asn500=) single nucleotide variant RASopathy [RCV003539618] Chr7:140778008 [GRCh38]
Chr7:140477808 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.138+6_138+11del deletion RASopathy [RCV003539620] Chr7:140924555..140924560 [GRCh38]
Chr7:140624355..140624360 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1630A>G (p.Ile544Val) single nucleotide variant RASopathy [RCV003655999] Chr7:140776976 [GRCh38]
Chr7:140476776 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1986G>A (p.Arg662=) single nucleotide variant RASopathy [RCV003656017] Chr7:140749293 [GRCh38]
Chr7:140449093 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.242C>T (p.Ala81Val) single nucleotide variant RASopathy [RCV003654553] Chr7:140834871 [GRCh38]
Chr7:140534671 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1141-18A>G single nucleotide variant RASopathy [RCV003654689] Chr7:140787602 [GRCh38]
Chr7:140487402 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1518-15C>T single nucleotide variant RASopathy [RCV003837679] Chr7:140777103 [GRCh38]
Chr7:140476903 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.620C>T (p.Pro207Leu) single nucleotide variant RASopathy [RCV003654755] Chr7:140808051 [GRCh38]
Chr7:140507851 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.241-13C>T single nucleotide variant RASopathy [RCV003654785] Chr7:140834885 [GRCh38]
Chr7:140534685 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1314+10T>C single nucleotide variant RASopathy [RCV003654877] Chr7:140783011 [GRCh38]
Chr7:140482811 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.774T>A (p.Gly258=) single nucleotide variant RASopathy [RCV003655477] Chr7:140801498 [GRCh38]
Chr7:140501298 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2070G>A (p.Lys690=) single nucleotide variant RASopathy [RCV003655836] Chr7:140739869 [GRCh38]
Chr7:140439669 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.291A>G (p.Gln97=) single nucleotide variant RASopathy [RCV003655857] Chr7:140834822 [GRCh38]
Chr7:140534622 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.57C>T (p.Phe19=) single nucleotide variant RASopathy [RCV003833670] Chr7:140924647 [GRCh38]
Chr7:140624447 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1177+15C>A single nucleotide variant RASopathy [RCV003656006] Chr7:140787533 [GRCh38]
Chr7:140487333 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.557T>A (p.Met186Lys) single nucleotide variant RASopathy [RCV003655502] Chr7:140808943 [GRCh38]
Chr7:140508743 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.416A>G (p.Gln139Arg) single nucleotide variant RASopathy [RCV003654576] Chr7:140834697 [GRCh38]
Chr7:140534497 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.126C>G (p.Ala42=) single nucleotide variant RASopathy [RCV003812002] Chr7:140924578 [GRCh38]
Chr7:140624378 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.811C>T (p.Arg271Cys) single nucleotide variant RASopathy [RCV003654683] Chr7:140801461 [GRCh38]
Chr7:140501261 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2128-27_2128-8del deletion RASopathy [RCV003654703] Chr7:140734778..140734797 [GRCh38]
Chr7:140434578..140434597 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.516G>A (p.Arg172=) single nucleotide variant RASopathy [RCV003654723] Chr7:140808984 [GRCh38]
Chr7:140508784 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1980C>G (p.Asn660Lys) single nucleotide variant RASopathy [RCV003655736] Chr7:140749299 [GRCh38]
Chr7:140449099 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.589G>C (p.Val197Leu) single nucleotide variant RASopathy [RCV003654763] Chr7:140808911 [GRCh38]
Chr7:140508711 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2128-5T>C single nucleotide variant BRAF-related condition [RCV003956535]|RASopathy [RCV003654777] Chr7:140734775 [GRCh38]
Chr7:140434575 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.509C>T (p.Pro170Leu) single nucleotide variant RASopathy [RCV003655738] Chr7:140808991 [GRCh38]
Chr7:140508791 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.626G>A (p.Gly209Asp) single nucleotide variant RASopathy [RCV003654630] Chr7:140808045 [GRCh38]
Chr7:140507845 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.712-18_712-17del microsatellite RASopathy [RCV003654651] Chr7:140801577..140801578 [GRCh38]
Chr7:140501377..140501378 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.32G>C (p.Gly11Ala) single nucleotide variant RASopathy [RCV003655626] Chr7:140924672 [GRCh38]
Chr7:140624472 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1021C>G (p.Pro341Ala) single nucleotide variant RASopathy [RCV003654747] Chr7:140794427 [GRCh38]
Chr7:140494227 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.80_88del (p.Ala27_Ala29del) deletion RASopathy [RCV003654794] Chr7:140924616..140924624 [GRCh38]
Chr7:140624416..140624424 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.368C>G (p.Ser123Cys) single nucleotide variant RASopathy [RCV003540159] Chr7:140834745 [GRCh38]
Chr7:140534545 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1315-13T>G single nucleotide variant RASopathy [RCV003540442] Chr7:140781706 [GRCh38]
Chr7:140481506 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1177+18G>T single nucleotide variant RASopathy [RCV003540219] Chr7:140787530 [GRCh38]
Chr7:140487330 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1433-11T>A single nucleotide variant RASopathy [RCV003539741] Chr7:140778086 [GRCh38]
Chr7:140477886 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2109G>A (p.Glu703=) single nucleotide variant RASopathy [RCV003540344] Chr7:140739830 [GRCh38]
Chr7:140439630 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1517+5G>A single nucleotide variant RASopathy [RCV003540406] Chr7:140777986 [GRCh38]
Chr7:140477786 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1554C>G (p.Gly518=) single nucleotide variant RASopathy [RCV003540063] Chr7:140777052 [GRCh38]
Chr7:140476852 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2277A>T (p.Gly759=) single nucleotide variant RASopathy [RCV003540121] Chr7:140734621 [GRCh38]
Chr7:140434421 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1028C>T (p.Pro343Leu) single nucleotide variant RASopathy [RCV003858689] Chr7:140794420 [GRCh38]
Chr7:140494220 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.731C>G (p.Thr244Ser) single nucleotide variant RASopathy [RCV003540163] Chr7:140801541 [GRCh38]
Chr7:140501341 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1860+5G>A single nucleotide variant RASopathy [RCV003865246] Chr7:140753270 [GRCh38]
Chr7:140453070 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1741+8T>C single nucleotide variant RASopathy [RCV003540217] Chr7:140754179 [GRCh38]
Chr7:140453979 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1259C>G (p.Pro420Arg) single nucleotide variant RASopathy [RCV003540295] Chr7:140783076 [GRCh38]
Chr7:140482876 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.77_82dup (p.Ala27_Gly28insGluAla) duplication RASopathy [RCV003540301] Chr7:140924621..140924622 [GRCh38]
Chr7:140624421..140624422 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.26_34del (p.Gly9_Gly11del) deletion RASopathy [RCV003539738] Chr7:140924670..140924678 [GRCh38]
Chr7:140624470..140624478 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.111G>C (p.Ser37=) single nucleotide variant RASopathy [RCV003539757] Chr7:140924593 [GRCh38]
Chr7:140624393 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.2128-20_2128-17del deletion RASopathy [RCV003540091] Chr7:140734787..140734790 [GRCh38]
Chr7:140434587..140434590 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1945T>C (p.Leu649=) single nucleotide variant RASopathy [RCV003820791] Chr7:140749334 [GRCh38]
Chr7:140449134 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.89G>C (p.Gly30Ala) single nucleotide variant RASopathy [RCV003540071] Chr7:140924615 [GRCh38]
Chr7:140624415 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.138+16A>G single nucleotide variant RASopathy [RCV003540221] Chr7:140924550 [GRCh38]
Chr7:140624350 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.981-16G>C single nucleotide variant RASopathy [RCV003871556] Chr7:140794483 [GRCh38]
Chr7:140494283 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.240+2T>C single nucleotide variant RASopathy [RCV003848378] Chr7:140850109 [GRCh38]
Chr7:140549909 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1077A>G (p.Gln359=) single nucleotide variant RASopathy [RCV003868119] Chr7:140794371 [GRCh38]
Chr7:140494171 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_004333.6(BRAF):c.609-9A>G single nucleotide variant RASopathy [RCV003539690] Chr7:140808071 [GRCh38]
Chr7:140507871 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.647G>C (p.Trp216Ser) single nucleotide variant RASopathy [RCV003540234] Chr7:140808024 [GRCh38]
Chr7:140507824 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.279A>T (p.Gln93His) single nucleotide variant RASopathy [RCV003870486] Chr7:140834834 [GRCh38]
Chr7:140534634 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.711+7A>T single nucleotide variant RASopathy [RCV003539600] Chr7:140807953 [GRCh38]
Chr7:140507753 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1561A>G (p.Thr521Ala) single nucleotide variant RASopathy [RCV003539648] Chr7:140777045 [GRCh38]
Chr7:140476845 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.157A>G (p.Met53Val) single nucleotide variant RASopathy [RCV003540052] Chr7:140850194 [GRCh38]
Chr7:140549994 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.2276del (p.Gly759fs) deletion RASopathy [RCV003540094] Chr7:140734622 [GRCh38]
Chr7:140434422 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.125C>T (p.Ala42Val) single nucleotide variant RASopathy [RCV003540120] Chr7:140924579 [GRCh38]
Chr7:140624379 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1617C>T (p.His539=) single nucleotide variant RASopathy [RCV003861135] Chr7:140776989 [GRCh38]
Chr7:140476789 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1992+8T>G single nucleotide variant RASopathy [RCV003540093] Chr7:140749279 [GRCh38]
Chr7:140449079 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1178-10A>T single nucleotide variant RASopathy [RCV003540066] Chr7:140783167 [GRCh38]
Chr7:140482967 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1993-10C>T single nucleotide variant RASopathy [RCV003540192] Chr7:140739956 [GRCh38]
Chr7:140439756 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1587C>T (p.Thr529=) single nucleotide variant RASopathy [RCV003540153] Chr7:140777019 [GRCh38]
Chr7:140476819 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.593A>C (p.Tyr198Ser) single nucleotide variant RASopathy [RCV003540166] Chr7:140808907 [GRCh38]
Chr7:140508707 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.976A>C (p.Ile326Leu) single nucleotide variant RASopathy [RCV003540200] Chr7:140800366 [GRCh38]
Chr7:140500166 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1178-12dup duplication RASopathy [RCV003540197] Chr7:140783168..140783169 [GRCh38]
Chr7:140482968..140482969 [GRCh37]
Chr7:7q34		 benign
NM_004333.6(BRAF):c.1182A>C (p.Ser394=) single nucleotide variant RASopathy [RCV003540073] Chr7:140783153 [GRCh38]
Chr7:140482953 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.22G>T (p.Gly8Cys) single nucleotide variant RASopathy [RCV003842171] Chr7:140924682 [GRCh38]
Chr7:140624482 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.241-10T>G single nucleotide variant RASopathy [RCV003540258] Chr7:140834882 [GRCh38]
Chr7:140534682 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.138+16A>C single nucleotide variant RASopathy [RCV003540311] Chr7:140924550 [GRCh38]
Chr7:140624350 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1012A>G (p.Lys338Glu) single nucleotide variant RASopathy [RCV003540308] Chr7:140794436 [GRCh38]
Chr7:140494236 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1944A>G (p.Glu648=) single nucleotide variant RASopathy [RCV003540343] Chr7:140749335 [GRCh38]
Chr7:140449135 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1695T>A (p.Asp565Glu) single nucleotide variant RASopathy [RCV003540440] Chr7:140754233 [GRCh38]
Chr7:140454033 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_004333.6(BRAF):c.1288T>G (p.Ser430Ala) single nucleotide variant RASopathy [RCV003540426] Chr7:140783047 [GRCh38]
Chr7:140482847 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.1993-7T>G single nucleotide variant RASopathy [RCV003540455] Chr7:140739953 [GRCh38]
Chr7:140439753 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1723A>G (p.Arg575Gly) single nucleotide variant not provided [RCV003887426] Chr7:140754205 [GRCh38]
Chr7:140454005 [GRCh37]
Chr7:7q34		 uncertain significance
NM_004333.6(BRAF):c.-10C>G single nucleotide variant BRAF-related condition [RCV003972245] Chr7:140924713 [GRCh38]
Chr7:140624513 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1611G>A (p.Leu537=) single nucleotide variant BRAF-related condition [RCV003983612] Chr7:140776995 [GRCh38]
Chr7:140476795 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.27T>C (p.Gly9=) single nucleotide variant BRAF-related condition [RCV003914039] Chr7:140924677 [GRCh38]
Chr7:140624477 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.459A>T (p.Gln153His) single nucleotide variant BRAF-related condition [RCV003897374] Chr7:140834654 [GRCh38]
Chr7:140534454 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q34(chr7:140426294-141883173)x1 copy number loss not provided [RCV003885518] Chr7:140426294..141883173 [GRCh37]
Chr7:7q34		 pathogenic
NM_004333.6(BRAF):c.2128-6_2128-5del deletion BRAF-related condition [RCV003981774] Chr7:140734775..140734776 [GRCh38]
Chr7:140434575..140434576 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.24T>C (p.Gly8=) single nucleotide variant BRAF-related condition [RCV003904594] Chr7:140924680 [GRCh38]
Chr7:140624480 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.18T>C (p.Gly6=) single nucleotide variant BRAF-related condition [RCV003913975] Chr7:140924686 [GRCh38]
Chr7:140624486 [GRCh37]
Chr7:7q34		 likely benign
NM_004333.6(BRAF):c.1178-1791C>T single nucleotide variant not provided [RCV003884981] Chr7:140784948 [GRCh38]
Chr7:140484748 [GRCh37]
Chr7:7q34		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3327
Count of miRNA genes:1182
Interacting mature miRNAs:1476
Transcripts:ENST00000288602, ENST00000469930, ENST00000479537, ENST00000496384, ENST00000497784
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH122643  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377140,589,521 - 140,589,822UniSTSGRCh37
Build 367140,235,990 - 140,236,291RGDNCBI36
Celera7135,311,571 - 135,311,872RGD
Cytogenetic Map7q34UniSTS
HuRef7134,885,348 - 134,885,649UniSTS
CRA_TCAGchr7v27139,927,701 - 139,928,002UniSTS
TNG Radiation Hybrid Map763343.0UniSTS
SHGC-35884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377140,529,039 - 140,529,138UniSTSGRCh37
Build 367140,175,508 - 140,175,607RGDNCBI36
Celera7135,251,096 - 135,251,195RGD
Cytogenetic Map7q34UniSTS
HuRef7134,824,890 - 134,824,989UniSTS
CRA_TCAGchr7v27139,867,224 - 139,867,323UniSTS
TNG Radiation Hybrid Map763329.0UniSTS
GeneMap99-G3 RH Map76073.0UniSTS
GDB:1318226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377140,569,009 - 140,569,094UniSTSGRCh37
Build 367140,215,478 - 140,215,563RGDNCBI36
Celera7135,291,066 - 135,291,151RGD
Cytogenetic Map7q34UniSTS
HuRef7134,864,839 - 134,864,924UniSTS
CRA_TCAGchr7v27139,907,194 - 139,907,279UniSTS
GDB:1317924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377140,609,380 - 140,609,443UniSTSGRCh37
Build 367140,255,849 - 140,255,912RGDNCBI36
Celera7135,331,430 - 135,331,493RGD
Cytogenetic Map7q34UniSTS
HuRef7134,905,207 - 134,905,270UniSTS
CRA_TCAGchr7v27139,947,561 - 139,947,624UniSTS
STS-T28237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377140,508,530 - 140,508,699UniSTSGRCh37
Build 367140,154,999 - 140,155,168RGDNCBI36
Celera7135,230,587 - 135,230,756RGD
Cytogenetic Map7q34UniSTS
HuRef7134,804,396 - 134,804,565UniSTS
CRA_TCAGchr7v27139,846,715 - 139,846,884UniSTS
GeneMap99-GB4 RH Map7642.94UniSTS
GDB:1318374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377140,507,212 - 140,507,325UniSTSGRCh37
Build 367140,153,681 - 140,153,794RGDNCBI36
Celera7135,229,269 - 135,229,382RGD
Cytogenetic Map7q34UniSTS
HuRef7134,803,078 - 134,803,191UniSTS
CRA_TCAGchr7v27139,845,398 - 139,845,511UniSTS
WI-17864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377140,529,793 - 140,529,931UniSTSGRCh37
Build 367140,176,262 - 140,176,400RGDNCBI36
Celera7135,251,850 - 135,251,988RGD
Cytogenetic Map7q34UniSTS
HuRef7134,825,644 - 134,825,782UniSTS
CRA_TCAGchr7v27139,867,978 - 139,868,116UniSTS
GeneMap99-GB4 RH Map7642.99UniSTS
Whitehead-RH Map7617.8UniSTS
D7S1672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377140,574,933 - 140,575,070UniSTSGRCh37
Build 367140,221,402 - 140,221,539RGDNCBI36
Celera7135,296,990 - 135,297,127RGD
Cytogenetic Map7q34UniSTS
HuRef7134,870,763 - 134,870,900UniSTS
CRA_TCAGchr7v27139,913,118 - 139,913,255UniSTS
D7S2227  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377140,548,362 - 140,548,637UniSTSGRCh37
Build 367140,194,831 - 140,195,106RGDNCBI36
Celera7135,270,419 - 135,270,694RGD
Cytogenetic Map7q34UniSTS
HuRef7134,844,192 - 134,844,467UniSTS
CRA_TCAGchr7v27139,886,547 - 139,886,822UniSTS
Whitehead-RH Map7617.7UniSTS
Whitehead-YAC Contig Map7 UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1191 1211 1001 60 662 47 3044 630 1778 153 1213 1425 23 1 718 1836 4 2
Low 1248 1778 725 564 1287 418 1313 1567 1956 266 247 188 152 486 952 2
Below cutoff 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA252358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA834931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA975673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI203435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ276310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW971583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM263585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB454480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN996440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU600171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB432546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC464558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM437233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM459603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ224878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF481581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY769663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY769664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY769665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY769666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY769667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY769668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC547435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M21001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M95712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP680445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X65187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000288602   ⟹   ENSP00000288602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,734,486 - 140,924,732 (-)Ensembl
RefSeq Acc Id: ENST00000469930   ⟹   ENSP00000495858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,833,972 - 140,924,742 (-)Ensembl
RefSeq Acc Id: ENST00000479537   ⟹   ENSP00000418033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,734,521 - 140,781,677 (-)Ensembl
RefSeq Acc Id: ENST00000496384   ⟹   ENSP00000419060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,719,327 - 140,924,810 (-)Ensembl
RefSeq Acc Id: ENST00000497784   ⟹   ENSP00000420119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,734,597 - 140,924,709 (-)Ensembl
RefSeq Acc Id: ENST00000642228   ⟹   ENSP00000493678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,734,314 - 140,924,712 (-)Ensembl
RefSeq Acc Id: ENST00000642272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,799,054 - 140,924,726 (-)Ensembl
RefSeq Acc Id: ENST00000642808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,808,892 - 140,924,703 (-)Ensembl
RefSeq Acc Id: ENST00000642875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,725,325 - 140,808,338 (-)Ensembl
RefSeq Acc Id: ENST00000643356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,801,020 - 140,808,271 (-)Ensembl
RefSeq Acc Id: ENST00000643790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,822,385 - 140,924,706 (-)Ensembl
RefSeq Acc Id: ENST00000644120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,725,145 - 140,824,398 (-)Ensembl
RefSeq Acc Id: ENST00000644650   ⟹   ENSP00000493783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,734,558 - 140,800,437 (-)Ensembl
RefSeq Acc Id: ENST00000644905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,732,563 - 140,924,712 (-)Ensembl
RefSeq Acc Id: ENST00000644969   ⟹   ENSP00000496776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,719,337 - 140,924,929 (-)Ensembl
RefSeq Acc Id: ENST00000645443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,734,487 - 140,741,717 (-)Ensembl
RefSeq Acc Id: ENST00000646334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,780,359 - 140,783,464 (-)Ensembl
RefSeq Acc Id: ENST00000646427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,833,969 - 140,836,233 (-)Ensembl
RefSeq Acc Id: ENST00000646730   ⟹   ENSP00000494784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,734,487 - 140,924,708 (-)Ensembl
RefSeq Acc Id: ENST00000646891   ⟹   ENSP00000493543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,730,665 - 140,924,929 (-)Ensembl
RefSeq Acc Id: ENST00000647434   ⟹   ENSP00000495132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7140,734,558 - 140,800,384 (-)Ensembl
RefSeq Acc Id: NM_001354609   ⟹   NP_001341538
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,719,337 - 140,924,929 (-)NCBI
T2T-CHM13v2.07142,033,514 - 142,239,131 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374244   ⟹   NP_001361173
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,730,665 - 140,924,929 (-)NCBI
T2T-CHM13v2.07142,044,842 - 142,239,131 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374258   ⟹   NP_001361187
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,719,337 - 140,924,929 (-)NCBI
T2T-CHM13v2.07142,033,514 - 142,239,131 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378467   ⟹   NP_001365396
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,719,337 - 140,924,929 (-)NCBI
T2T-CHM13v2.07142,033,514 - 142,239,131 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378468   ⟹   NP_001365397
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,719,337 - 140,924,929 (-)NCBI
T2T-CHM13v2.07142,033,514 - 142,239,131 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378469   ⟹   NP_001365398
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,730,665 - 140,924,929 (-)NCBI
T2T-CHM13v2.07142,044,842 - 142,239,131 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378470   ⟹   NP_001365399
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,719,337 - 140,924,929 (-)NCBI
T2T-CHM13v2.07142,033,514 - 142,239,131 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378471   ⟹   NP_001365400
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,719,337 - 140,924,929 (-)NCBI
T2T-CHM13v2.07142,033,514 - 142,239,131 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378472   ⟹   NP_001365401
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,719,337 - 140,924,268 (-)NCBI
T2T-CHM13v2.07142,033,514 - 142,238,470 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378473   ⟹   NP_001365402
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,730,665 - 140,924,268 (-)NCBI
T2T-CHM13v2.07142,044,842 - 142,238,470 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378474   ⟹   NP_001365403
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,713,328 - 140,924,929 (-)NCBI
T2T-CHM13v2.07142,027,505 - 142,239,131 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378475   ⟹   NP_001365404
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,719,337 - 140,924,929 (-)NCBI
T2T-CHM13v2.07142,033,514 - 142,239,131 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004333   ⟹   NP_004324
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,730,665 - 140,924,929 (-)NCBI
GRCh377140,415,749 - 140,624,564 (-)NCBI
Build 367140,080,751 - 140,271,033 (-)NCBI Archive
HuRef7134,729,459 - 134,920,529 (-)ENTREZGENE
CHM1_17140,368,045 - 140,559,148 (-)NCBI
T2T-CHM13v2.07142,044,842 - 142,239,131 (-)NCBI
CRA_TCAGchr7v27139,771,989 - 139,962,886 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_017012559   ⟹   XP_016868048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,719,337 - 140,924,929 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420766   ⟹   XP_047276722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,719,337 - 140,924,268 (-)NCBI
RefSeq Acc Id: XM_047420767   ⟹   XP_047276723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,739,812 - 140,924,929 (-)NCBI
RefSeq Acc Id: XM_047420768   ⟹   XP_047276724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,747,377 - 140,924,929 (-)NCBI
RefSeq Acc Id: XM_047420769   ⟹   XP_047276725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,747,380 - 140,924,929 (-)NCBI
RefSeq Acc Id: XM_047420770   ⟹   XP_047276726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,719,337 - 140,808,983 (-)NCBI
RefSeq Acc Id: XM_054358874   ⟹   XP_054214849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07142,033,514 - 142,239,131 (-)NCBI
RefSeq Acc Id: XM_054358875   ⟹   XP_054214850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07142,033,514 - 142,238,470 (-)NCBI
RefSeq Acc Id: XM_054358876   ⟹   XP_054214851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07142,053,991 - 142,239,131 (-)NCBI
RefSeq Acc Id: XM_054358877   ⟹   XP_054214852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07142,061,556 - 142,239,131 (-)NCBI
RefSeq Acc Id: XM_054358878   ⟹   XP_054214853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07142,061,559 - 142,239,131 (-)NCBI
RefSeq Acc Id: XM_054358879   ⟹   XP_054214854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07142,033,514 - 142,123,176 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001341538 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361173 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361187 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365396 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365397 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365398 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365399 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365400 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365401 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365402 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365403 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365404 (Get FASTA)   NCBI Sequence Viewer  
  NP_004324 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868048 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276722 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276723 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276724 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276725 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276726 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214849 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214850 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214851 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214852 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214853 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214854 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35609 (Get FASTA)   NCBI Sequence Viewer  
  AAA96495 (Get FASTA)   NCBI Sequence Viewer  
  AAD15551 (Get FASTA)   NCBI Sequence Viewer  
  AAD43193 (Get FASTA)   NCBI Sequence Viewer  
  AAI01758 (Get FASTA)   NCBI Sequence Viewer  
  AAI12080 (Get FASTA)   NCBI Sequence Viewer  
  AAS00359 (Get FASTA)   NCBI Sequence Viewer  
  ACD11489 (Get FASTA)   NCBI Sequence Viewer  
  ADN43065 (Get FASTA)   NCBI Sequence Viewer  
  ADQ00186 (Get FASTA)   NCBI Sequence Viewer  
  ADX94397 (Get FASTA)   NCBI Sequence Viewer  
  AIE38317 (Get FASTA)   NCBI Sequence Viewer  
  ARR27440 (Get FASTA)   NCBI Sequence Viewer  
  ARR27441 (Get FASTA)   NCBI Sequence Viewer  
  ARR27442 (Get FASTA)   NCBI Sequence Viewer  
  ARR27443 (Get FASTA)   NCBI Sequence Viewer  
  ARR27444 (Get FASTA)   NCBI Sequence Viewer  
  ARR27445 (Get FASTA)   NCBI Sequence Viewer  
  CAA46301 (Get FASTA)   NCBI Sequence Viewer  
  CAB81553 (Get FASTA)   NCBI Sequence Viewer  
  CAZ68014 (Get FASTA)   NCBI Sequence Viewer  
  CBK51920 (Get FASTA)   NCBI Sequence Viewer  
  EAL24023 (Get FASTA)   NCBI Sequence Viewer  
  EAW83964 (Get FASTA)   NCBI Sequence Viewer  
  EAW83965 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000288602
  ENSP00000288602.7
  ENSP00000418033.2
  ENSP00000419060
  ENSP00000419060.2
  ENSP00000420119.2
  ENSP00000493543
  ENSP00000493543.1
  ENSP00000493678.1
  ENSP00000493783.1
  ENSP00000494784
  ENSP00000494784.1
  ENSP00000495132.1
  ENSP00000495858.1
  ENSP00000496776
  ENSP00000496776.1
GenBank Protein P15056 (Get FASTA)   NCBI Sequence Viewer  
  WBY73522 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_004324   ⟸   NM_004333
- Peptide Label: isoform 1
- UniProtKB: Q9UDP8 (UniProtKB/Swiss-Prot),   Q3MIN6 (UniProtKB/Swiss-Prot),   Q13878 (UniProtKB/Swiss-Prot),   B6HY66 (UniProtKB/Swiss-Prot),   B6HY65 (UniProtKB/Swiss-Prot),   B6HY64 (UniProtKB/Swiss-Prot),   B6HY63 (UniProtKB/Swiss-Prot),   B6HY62 (UniProtKB/Swiss-Prot),   B6HY61 (UniProtKB/Swiss-Prot),   A4D1T4 (UniProtKB/Swiss-Prot),   Q9Y6T3 (UniProtKB/Swiss-Prot),   P15056 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868048   ⟸   XM_017012559
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001341538   ⟸   NM_001354609
- Peptide Label: isoform 2
- UniProtKB: H7C560 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001361187   ⟸   NM_001374258
- Peptide Label: isoform 4
- UniProtKB: A0A2R8Y8E0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001361173   ⟸   NM_001374244
- Peptide Label: isoform 3
- UniProtKB: A0A2U3TZI2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365403   ⟸   NM_001378474
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001365399   ⟸   NM_001378470
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001365404   ⟸   NM_001378475
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001365400   ⟸   NM_001378471
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001365397   ⟸   NM_001378468
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001365396   ⟸   NM_001378467
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001365401   ⟸   NM_001378472
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001365398   ⟸   NM_001378469
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001365402   ⟸   NM_001378473
- Peptide Label: isoform 11
RefSeq Acc Id: ENSP00000418033   ⟸   ENST00000479537
RefSeq Acc Id: ENSP00000495858   ⟸   ENST00000469930
RefSeq Acc Id: ENSP00000419060   ⟸   ENST00000496384
RefSeq Acc Id: ENSP00000420119   ⟸   ENST00000497784
RefSeq Acc Id: ENSP00000288602   ⟸   ENST00000288602
RefSeq Acc Id: ENSP00000493678   ⟸   ENST00000642228
RefSeq Acc Id: ENSP00000493783   ⟸   ENST00000644650
RefSeq Acc Id: ENSP00000496776   ⟸   ENST00000644969
RefSeq Acc Id: ENSP00000493543   ⟸   ENST00000646891
RefSeq Acc Id: ENSP00000494784   ⟸   ENST00000646730
RefSeq Acc Id: ENSP00000495132   ⟸   ENST00000647434
RefSeq Acc Id: XP_047276722   ⟸   XM_047420766
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047276726   ⟸   XM_047420770
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047276723   ⟸   XM_047420767
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047276724   ⟸   XM_047420768
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047276725   ⟸   XM_047420769
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054214849   ⟸   XM_054358874
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054214850   ⟸   XM_054358875
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054214854   ⟸   XM_054358879
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054214851   ⟸   XM_054358876
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054214852   ⟸   XM_054358877
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054214853   ⟸   XM_054358878
- Peptide Label: isoform X5
Protein Domains
Phorbol-ester/DAG-type   Protein kinase   RBD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P15056-F1-model_v2 AlphaFold P15056 1-766 view protein structure

Promoters
RGD ID:6805286
Promoter ID:HG_KWN:59970
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_004333
Position:
Human AssemblyChrPosition (strand)Source
Build 367140,270,606 - 140,271,447 (-)MPROMDB
RGD ID:7212111
Promoter ID:EPDNEW_H11802
Type:initiation region
Name:BRAF_1
Description:B-Raf proto-oncogene, serine/threonine kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387140,924,708 - 140,924,768EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1097 AgrOrtholog
COSMIC BRAF COSMIC
Ensembl Genes ENSG00000157764 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000288602 ENTREZGENE
  ENST00000288602.11 UniProtKB/TrEMBL
  ENST00000469930.2 UniProtKB/TrEMBL
  ENST00000479537.6 UniProtKB/TrEMBL
  ENST00000496384 ENTREZGENE
  ENST00000496384.7 UniProtKB/TrEMBL
  ENST00000497784.2 UniProtKB/TrEMBL
  ENST00000642228.1 UniProtKB/TrEMBL
  ENST00000644650.1 UniProtKB/TrEMBL
  ENST00000644969 ENTREZGENE
  ENST00000644969.2 UniProtKB/TrEMBL
  ENST00000646730 ENTREZGENE
  ENST00000646730.1 UniProtKB/TrEMBL
  ENST00000646891 ENTREZGENE
  ENST00000646891.2 UniProtKB/Swiss-Prot
  ENST00000647434.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.60.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000157764 GTEx
HGNC ID HGNC:1097 ENTREZGENE
Human Proteome Map BRAF Human Proteome Map
InterPro C1-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DAG/PE-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PE/DAG-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_cat_dom UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:673 UniProtKB/Swiss-Prot
NCBI Gene 673 ENTREZGENE
OMIM 164757 OMIM
PANTHER NON-SPECIFIC SERINE_THREONINE PROTEIN KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE-THREONINE PROTEIN KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam C1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25408 PharmGKB
PIRSF Integrin-linked_kinase UniProtKB/TrEMBL
PRINTS DAGPEDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00109 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrKc UniProtKB/TrEMBL
Superfamily-SCOP SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57889 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4LC38_HUMAN UniProtKB/TrEMBL
  A0A1X9T4I6_HUMAN UniProtKB/TrEMBL
  A0A2R8Y467_HUMAN UniProtKB/TrEMBL
  A0A2R8Y492_HUMAN UniProtKB/TrEMBL
  A0A2R8Y679_HUMAN UniProtKB/TrEMBL
  A0A2R8Y8E0 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YDP5_HUMAN UniProtKB/TrEMBL
  A0A2R8YES9_HUMAN UniProtKB/TrEMBL
  A0A2U3TZI2 ENTREZGENE, UniProtKB/TrEMBL
  A4D1T4 ENTREZGENE
  B6HY61 ENTREZGENE
  B6HY62 ENTREZGENE
  B6HY63 ENTREZGENE
  B6HY64 ENTREZGENE
  B6HY65 ENTREZGENE
  B6HY66 ENTREZGENE
  BRAF_HUMAN UniProtKB/Swiss-Prot
  E2I6F4_HUMAN UniProtKB/TrEMBL
  E5FF37_HUMAN UniProtKB/TrEMBL
  F1CC75_HUMAN UniProtKB/TrEMBL
  H7C4S5_HUMAN UniProtKB/TrEMBL
  H7C560 ENTREZGENE, UniProtKB/TrEMBL
  H7C5K3_HUMAN UniProtKB/TrEMBL
  P15056 ENTREZGENE
  Q13878 ENTREZGENE
  Q3MIN6 ENTREZGENE
  Q75MQ8_HUMAN UniProtKB/TrEMBL
  Q9UDP8 ENTREZGENE
  Q9Y6T3 ENTREZGENE
UniProt Secondary A4D1T4 UniProtKB/Swiss-Prot
  B6HY61 UniProtKB/Swiss-Prot
  B6HY62 UniProtKB/Swiss-Prot
  B6HY63 UniProtKB/Swiss-Prot
  B6HY64 UniProtKB/Swiss-Prot
  B6HY65 UniProtKB/Swiss-Prot
  B6HY66 UniProtKB/Swiss-Prot
  Q13878 UniProtKB/Swiss-Prot
  Q3MIN6 UniProtKB/Swiss-Prot
  Q9UDP8 UniProtKB/Swiss-Prot
  Q9Y6T3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-07-01 BRAF  B-Raf proto-oncogene, serine/threonine kinase  BRAF  v-raf murine sarcoma viral oncogene homolog B  Symbol and/or name change 5135510 APPROVED
2013-07-16 BRAF  v-raf murine sarcoma viral oncogene homolog B  BRAF  v-raf murine sarcoma viral oncogene homolog B1  Symbol and/or name change 5135510 APPROVED