MAP2K1 (mitogen-activated protein kinase kinase 1) - Rat Genome Database

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Gene: MAP2K1 (mitogen-activated protein kinase kinase 1) Homo sapiens
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Symbol: MAP2K1
Name: mitogen-activated protein kinase kinase 1
RGD ID: 732023
HGNC Page HGNC:6840
Description: Enables several functions, including MAP kinase kinase activity; MAP-kinase scaffold activity; and scaffold protein binding activity. Involved in several processes, including cellular senescence; positive regulation of ERK1 and ERK2 cascade; and positive regulation of macromolecule metabolic process. Located in several cellular components, including ciliary basal body; cytosol; and endoplasmic reticulum. Implicated in carcinoma (multiple); cardiofaciocutaneous syndrome 3; high grade glioma; and melorheostosis. Biomarker of breast cancer; lung adenocarcinoma; ovarian carcinoma; pancreatic adenocarcinoma; and renal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CFC3; dual specificity mitogen-activated protein kinase kinase 1; ERK activator kinase 1; MAP kinase kinase 1; MAPK/ERK kinase 1; MAPKK 1; MAPKK1; MEK 1; MEK1; MEL; mitogen activated protein kinase kinase 1; MKK1; PRKMK1; protein kinase, mitogen-activated, kinase 1 (MAP kinase kinase 1)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: MAP2K1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381566,386,912 - 66,491,544 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1566,386,837 - 66,491,656 (+)Ensemblhg38GRCh38
GRCh371566,679,250 - 66,783,882 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361564,466,679 - 64,570,936 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341564,466,678 - 64,570,935NCBI
Celera1543,568,908 - 43,673,089 (+)NCBICelera
Cytogenetic Map15q22.31NCBI
HuRef1543,515,493 - 43,620,002 (+)NCBIHuRef
CHM1_11566,797,173 - 66,901,898 (+)NCBICHM1_1
T2T-CHM13v2.01564,208,363 - 64,313,019 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(+)-schisandrin B  (ISO)
(20R)-protopanaxadiol  (EXP)
(Z)-PUGNAc  (EXP)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-(5-isoquinolinesulfonyl)-2-methylpiperazine  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,5-dimethylcelecoxib  (EXP)
2,6-dinitrotoluene  (ISO)
2-aminobiphenyl  (EXP)
2-arachidonoylglycerol  (ISO)
2-methylcholine  (EXP)
3',5'-cyclic GMP  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,7-dihydropurine-6-thione  (EXP)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
5-(2-methylpiperazine-1-sulfonyl)isoquinoline  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
9-cis,11-trans-octadecadienoic acid  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
acrylamide  (ISO)
adenosine  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
Alisol B  (ISO)
all-trans-retinoic acid  (EXP)
all-trans-retinol  (ISO)
alpha-mangostin  (EXP)
alpha-pinene  (EXP)
amiodarone  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
Ammothamnine  (EXP)
amsacrine  (EXP)
anandamide  (ISO)
anethole  (EXP)
anthranilic acid  (EXP)
antimonite  (EXP)
Antrocin  (EXP)
arachidonic acid  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic acid  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP,ISO)
ATP  (ISO)
atrazine  (ISO)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
beryllium difluoride  (ISO)
bicalutamide  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bortezomib  (EXP)
cadmium acetate  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
cannabidiol  (EXP,ISO)
capsaicin  (EXP)
carbon nanotube  (ISO)
celecoxib  (EXP)
chenodeoxycholic acid  (EXP)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
citalopram  (ISO)
clobetasol  (ISO)
clozapine  (ISO)
cobalt dichloride  (EXP,ISO)
cocaine  (EXP,ISO)
colforsin daropate hydrochloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
cordycepin  (EXP)
corn oil  (ISO)
corticosterone  (ISO)
crocidolite asbestos  (EXP,ISO)
cumene  (ISO)
curcumin  (EXP)
cycloheximide  (ISO)
cyclosporin A  (EXP)
D-mannitol  (ISO)
dabrafenib  (EXP)
daunorubicin  (EXP)
decabromodiphenyl ether  (EXP)
deguelin  (EXP)
deoxycholic acid  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
dieldrin  (EXP)
diethylstilbestrol  (EXP,ISO)
dimethyl sulfoxide  (EXP)
dioxygen  (EXP,ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diquat  (ISO)
disodium selenite  (EXP)
diuron  (EXP)
doxorubicin  (EXP,ISO)
emodin  (ISO)
endosulfan  (EXP,ISO)
escitalopram  (ISO)
estriol  (ISO)
etacrynic acid  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fipronil  (ISO)
flavonoids  (EXP)
flutamide  (ISO)
folic acid  (ISO)
gallic acid  (EXP)
gamma-hexachlorocyclohexane  (EXP)
geldanamycin  (EXP,ISO)
genistein  (EXP,ISO)
geraniol  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glyphosate  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
GSK-J4  (EXP)
haloperidol  (ISO)
heparin  (ISO)
heptachlor  (EXP)
hyaluronic acid  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
indometacin  (ISO)
ionomycin  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
ketamine  (ISO)
lead diacetate  (EXP)
lead(0)  (EXP,ISO)
letrozole  (ISO)
lipopolysaccharide  (EXP,ISO)
lipoteichoic acid  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
lithocholic acid  (EXP)
LY294002  (EXP,ISO)
lycopene  (EXP)
Maduramicin  (ISO)
maneb  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
melatonin  (ISO)
mercaptopurine  (EXP)
methamphetamine  (ISO)
methimazole  (ISO)
methylmercury chloride  (ISO)
methylseleninic acid  (EXP)
mifepristone  (EXP)
mitomycin C  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
monosodium L-glutamate  (ISO)
myricetin  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-Nitroso-N-methylurethane  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
nickel dichloride  (ISO)
nitrates  (ISO)
ochratoxin A  (EXP)
okadaic acid  (EXP)
oxybenzone  (ISO)
ozone  (EXP,ISO)
p-menthan-3-ol  (EXP)
paclitaxel  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
PD 0325901  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
perifosine  (EXP)
phenylephrine  (ISO)
PhIP  (EXP)
phorbol 13-acetate 12-myristate  (EXP,ISO)
prednisone  (ISO)
propiconazole  (ISO)
propofol  (ISO)
prostaglandin F2alpha  (ISO)
purine-6-thiol  (EXP)
pyocyanine  (EXP)
quercetin  (EXP,ISO)
quinoline  (EXP)
quinomethionate  (EXP)
reactive oxygen species  (EXP)
resveratrol  (EXP,ISO)
rotenone  (ISO)
rottlerin  (EXP)
SCH772984  (ISO)
serpentine asbestos  (EXP)
sirolimus  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sorafenib  (EXP,ISO)
sulfadimethoxine  (ISO)
sulfates  (EXP)
sulindac sulfide  (EXP)
sulindac sulfone  (EXP)
sumatriptan  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP,ISO)
teriflunomide  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
Theaflavin 3,3'-digallate  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
toosendanin  (EXP)
trametinib  (EXP,ISO)
trans-anethole  (EXP)
trichostatin A  (EXP)
trimethyltin  (ISO)
triphenyl phosphate  (EXP)
troglitazone  (EXP)
tyrphostin AG 1478  (ISO)
urethane  (EXP)
vanadyl sulfate  (EXP)
vorinostat  (EXP)
wogonin  (ISO)
zearalenone  (ISO)
zinc atom  (EXP,ISO)
zinc sulfate  (EXP)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
Bergmann glial cell differentiation  (IEA)
cell motility  (IEA)
cellular senescence  (IMP)
central nervous system neuron differentiation  (IEA)
cerebellar cortex formation  (IEA)
chemotaxis  (TAS)
endodermal cell differentiation  (IEA)
epithelial cell proliferation involved in lung morphogenesis  (IEA)
ERBB2-ERBB3 signaling pathway  (IEA)
ERK1 and ERK2 cascade  (IEA,TAS)
face development  (IEA)
Golgi inheritance  (IEA,ISO)
heart development  (IEA)
insulin-like growth factor receptor signaling pathway  (IEA)
keratinocyte differentiation  (IEA)
labyrinthine layer development  (IEA)
lung morphogenesis  (IEA)
MAPK cascade  (IBA,IEA)
melanosome transport  (IEA,ISO)
myelination  (IEA)
negative regulation of cell population proliferation  (IDA)
negative regulation of gene expression  (IEA)
negative regulation of homotypic cell-cell adhesion  (IEA,ISO)
negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway  (IEA)
neuron differentiation  (IBA,IEA,ISO)
neuron projection morphogenesis  (IEA,ISO)
placenta blood vessel development  (IEA)
positive regulation of ATP biosynthetic process  (IEA)
positive regulation of autophagy  (IEA,ISO)
positive regulation of axonogenesis  (IEA)
positive regulation of cell migration  (IEA,ISO)
positive regulation of DNA-templated transcription  (IMP)
positive regulation of endodermal cell differentiation  (IEA)
positive regulation of ERK1 and ERK2 cascade  (IMP)
positive regulation of gene expression  (IEA,IMP)
positive regulation of GTPase activity  (ISO)
positive regulation of MAPK cascade  (IEA,ISO)
positive regulation of muscle contraction  (IEA)
positive regulation of protein serine/threonine kinase activity  (IDA)
positive regulation of Ras protein signal transduction  (IEA)
positive regulation of transcription elongation by RNA polymerase II  (IEA,ISO)
protein phosphorylation  (ISO)
regulation of axon regeneration  (IEA)
regulation of early endosome to late endosome transport  (IEA,TAS)
regulation of ERK1 and ERK2 cascade  (IEA,ISO)
regulation of Golgi inheritance  (IEA,TAS)
regulation of neurotransmitter receptor localization to postsynaptic specialization membrane  (IEA)
regulation of stress-activated MAPK cascade  (IEA,TAS)
regulation of vascular associated smooth muscle contraction  (IEA,ISO)
response to axon injury  (IEA,ISO)
response to glucocorticoid  (IEA,ISO)
response to oxidative stress  (IEA,ISO)
Schwann cell development  (IEA)
signal transduction  (TAS)
thymus development  (IEA)
thyroid gland development  (IEA)
trachea formation  (IEA)
triglyceride homeostasis  (IEA,ISO)
type B pancreatic cell proliferation  (IEA)
vesicle transport along microtubule  (IEA,ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
acute myeloid leukemia pathway  (IEA)
altered extracellular signal-regulated Raf/Mek/Erk signaling pathway  (TAS)
B cell receptor signaling pathway  (IEA)
ceramide signaling pathway  (EXP,IEA)
chronic myeloid leukemia pathway   (IEA)
colorectal cancer pathway   (IEA)
endometrial cancer pathway  (IEA)
endothelin signaling pathway  (EXP)
ephrin - ephrin receptor bidirectional signaling axis   (EXP)
epidermal growth factor/neuregulin signaling pathway  (IEA)
Fc epsilon receptor mediated signaling pathway  (EXP)
glioma pathway  (IEA)
gonadotropin-releasing hormone signaling pathway  (IEA)
granulocyte-macrophage colony-stimulating factor signaling pathway   (EXP)
Hedgehog signaling pathway   (EXP)
insulin signaling pathway  (EXP,IEA)
interleukin-2 signaling pathway  (EXP)
long term depression  (IEA)
long term potentiation  (IEA)
melanoma pathway   (IEA)
mitogen activated protein kinase signaling pathway   (IEA)
mTOR signaling pathway  (EXP)
neurotrophic factor signaling pathway   (IEA)
non-small cell lung carcinoma pathway   (IEA,TAS)
pancreatic cancer pathway  (IEA)
platelet-derived growth factor signaling pathway  (EXP)
prion disease pathway   (IEA)
prostate cancer pathway   (IEA)
renal cell carcinoma pathway  (IEA)
T cell receptor signaling pathway   (IEA)
the extracellular signal-regulated Raf/Mek/Erk signaling pathway  (ISO,TAS)
thyroid cancer pathway   (IEA)
Toll-like receptor signaling pathway  (IEA)
type II interferon signaling pathway  (EXP)
urinary bladder cancer pathway   (IEA)
vascular endothelial growth factor signaling pathway  (EXP,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal bleeding  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal eyelash morphology  (IAGP)
Abnormal heart valve morphology  (IAGP)
Abnormal morphology of ulna  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the gastrointestinal tract  (IAGP)
Abnormality of vision  (IAGP)
Amegakaryocytic thrombocytopenia  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the eyebrow  (IAGP)
Arteriovenous malformation  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Biparietal narrowing  (IAGP)
Bone pain  (IAGP)
Brachydactyly  (IAGP)
Brittle hair  (IAGP)
Broad forehead  (IAGP)
Bruising susceptibility  (IAGP)
Cafe-au-lait spot  (IAGP)
Cavernous hemangioma  (IAGP)
Cerebral cortical atrophy  (IAGP)
Chylothorax  (IAGP)
Cleft palate  (IAGP)
Clinodactyly  (IAGP)
Coarctation of aorta  (IAGP)
Coarse facial features  (IAGP)
Cough  (IAGP)
Cryptorchidism  (IAGP)
Cubitus valgus  (IAGP)
Curly hair  (IAGP)
Cutaneous melanoma  (IAGP)
Cystic hygroma  (IAGP)
Decreased total leukocyte count  (IAGP)
Deep palmar crease  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Diabetes insipidus  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dry skin  (IAGP)
Dysarthria  (IAGP)
Dystrophic fingernails  (IAGP)
Eczematoid dermatitis  (IAGP)
EEG abnormality  (IAGP)
Epicanthus  (IAGP)
Excessive wrinkled skin  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fever  (IAGP)
Fine hair  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Functional abnormality of the gastrointestinal tract  (IAGP)
Gastric adenocarcinoma  (IAGP)
Generalized hyperpigmentation  (IAGP)
Genital ulcers  (IAGP)
Genu valgum  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Heat intolerance  (IAGP)
Hepatic failure  (IAGP)
Hepatomegaly  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hyperextensible skin  (IAGP)
Hyperhidrosis  (IAGP)
Hyperkeratosis  (IAGP)
Hyperostosis  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoalbuminemia  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of the zygomatic bone  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Increased bone mineral density  (IAGP)
Intellectual disability  (IAGP)
Juvenile myelomonocytic leukemia  (IAGP)
Keratosis pilaris  (IAGP)
Kyphoscoliosis  (IAGP)
Long face  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Lung adenocarcinoma  (IAGP)
Lymphadenopathy  (IAGP)
Lymphedema  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Male infertility  (IAGP)
Melanoma  (IAGP)
Melorheostosis  (IAGP)
Mental deterioration  (IAGP)
Micrognathia  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Multiple lentigines  (IAGP)
Myopia  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the large intestine  (IAGP)
Neurofibrosarcoma  (IAGP)
Non-Hodgkin lymphoma  (IAGP)
Non-small cell lung carcinoma  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Oral ulcer  (IAGP)
Osteolysis  (IAGP)
Palmoplantar keratoderma  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Pectus excavatum of inferior sternum  (IAGP)
Posteriorly rotated ears  (IAGP)
Postnatal growth retardation  (IAGP)
Premature birth  (IAGP)
Progressive  (IAGP)
Ptosis  (IAGP)
Pulmonary Langerhans cell histiocytosis  (IAGP)
Pulmonic stenosis  (IAGP)
Radial deviation of finger  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced circulating growth hormone concentration  (IAGP)
Reduced factor XII activity  (IAGP)
Reduced factor XIII activity  (IAGP)
Redundant skin  (IAGP)
Respiratory insufficiency  (IAGP)
Sclerosing cholangitis  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Shield chest  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Skin rash  (IAGP)
Slow-growing hair  (IAGP)
Sparse hair  (IAGP)
Sparse or absent eyelashes  (IAGP)
Splenomegaly  (IAGP)
Spontaneous pneumothorax  (IAGP)
Sporadic  (IAGP)
Squamous cell lung carcinoma  (IAGP)
Strabismus  (IAGP)
Submucous cleft hard palate  (IAGP)
Superior pectus carinatum  (IAGP)
Synovitis  (IAGP)
Thickened helices  (IAGP)
Thrombocytopenia  (IAGP)
Triangular face  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Ventricular septal defect  (IAGP)
Webbed neck  (IAGP)
Weight loss  (IAGP)
Wide intermamillary distance  (IAGP)
Wide mouth  (IAGP)
Woolly hair  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. MEK1 protein kinase inhibition protects against damage resulting from focal cerebral ischemia. Alessandrini A, etal., Proc Natl Acad Sci U S A. 1999 Oct 26;96(22):12866-9.
2. c-Raf, but not B-Raf, is essential for development of K-Ras oncogene-driven non-small cell lung carcinoma. Blasco RB, etal., Cancer Cell. 2011 May 17;19(5):652-63. doi: 10.1016/j.ccr.2011.04.002. Epub 2011 Apr 21.
3. Signal transduction mediated by the Ras/Raf/MEK/ERK pathway from cytokine receptors to transcription factors: potential targeting for therapeutic intervention. Chang F, etal., Leukemia 2003 Jul;17(7):1263-93.
4. Oncogenomics of c-Myc transgenic mice reveal novel regulators of extracellular signaling, angiogenesis and invasion with clinical significance for human lung adenocarcinoma. Ciribilli Y and Borlak J, Oncotarget. 2017 Oct 23;8(60):101808-101831. doi: 10.18632/oncotarget.21981. eCollection 2017 Nov 24.
5. 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.
6. Insulin receptor, insulin receptor substrate-1, Raf-1, and Mek-1 during hormonal hepatocarcinogenesis by intrahepatic pancreatic islet transplantation in diabetic rats. Evert M, etal., Cancer Res. 2004 Nov 1;64(21):8093-100.
7. Embryonic death of Mek1-deficient mice reveals a role for this kinase in angiogenesis in the labyrinthine region of the placenta. Giroux S, etal., Curr Biol 1999 Apr 8;9(7):369-72.
8. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
9. Development of cataractous macrophthalmia in mice expressing an active MEK1 in the lens. Gong X, etal., Invest Ophthalmol Vis Sci. 2001 Mar;42(3):539-48.
10. Individualized drug screening based on next generation sequencing and patient derived xenograft model for pancreatic cancer with bone metastasis. Guan Z, etal., Mol Med Rep. 2017 Oct;16(4):4784-4790. doi: 10.3892/mmr.2017.7213. Epub 2017 Aug 10.
11. Mitogen-activated Protein Kinase Kinase Activity Maintains Acinar-to-Ductal Metaplasia and Is Required for Organ Regeneration in Pancreatitis. Halbrook CJ, etal., Cell Mol Gastroenterol Hepatol. 2017 Jan;3(1):99-118. doi: 10.1016/j.jcmgh.2016.09.009.
12. Inhibition of MAPK kinase signaling pathways suppressed renal cell carcinoma growth and angiogenesis in vivo. Huang D, etal., Cancer Res. 2008 Jan 1;68(1):81-8.
13. Evaluation of clinical significance of TP53, BCL-2, BAX and MEK1 expression in 229 ovarian carcinomas treated with platinum-based regimen. Kupryjanczyk J, etal., Br J Cancer. 2003 Mar 24;88(6):848-54.
14. Constitutive activation of mitogen-activated protein (MAP) kinases in human renal cell carcinoma. Oka H, etal., Cancer Res. 1995 Sep 15;55(18):4182-7.
15. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
16. New driver mutations in non-small-cell lung cancer. Pao W and Girard N, Lancet Oncol. 2011 Feb;12(2):175-80.
17. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
18. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
19. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
20. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
21. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
22. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
23. Activated MEK cooperates with Ink4a/Arf loss or Akt activation to induce gliomas in vivo. Robinson JP, etal., Oncogene. 2011 Mar 17;30(11):1341-50. doi: 10.1038/onc.2010.513. Epub 2010 Nov 8.
24. 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.
25. Investigation of the Mek-MAP kinase-Rsk pathway in human breast cancer. Salh B, etal., Anticancer Res. 1999 Jan-Feb;19(1B):731-40.
26. 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.
27. 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.
28. Depleting MEKK1 expression inhibits the ability of invasion and migration of human pancreatic cancer cells. Su F, etal., J Cancer Res Clin Oncol. 2009 Dec;135(12):1655-63. doi: 10.1007/s00432-009-0612-6. Epub 2009 Jun 10.
29. Involvement of ERK1/2 in invasiveness and metastatic development of rat prostatic adenocarcinoma. Suthiphongchai T, etal., Oncol Res. 2003;13(5):253-9.
30. Activation of MEK1 or MEK2 isoform is sufficient to fully transform intestinal epithelial cells and induce the formation of metastatic tumors. Voisin L, etal., BMC Cancer. 2008 Nov 17;8:337. doi: 10.1186/1471-2407-8-337.
Additional References at PubMed
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Genomics

Comparative Map Data
MAP2K1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381566,386,912 - 66,491,544 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1566,386,837 - 66,491,656 (+)Ensemblhg38GRCh38
GRCh371566,679,250 - 66,783,882 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361564,466,679 - 64,570,936 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341564,466,678 - 64,570,935NCBI
Celera1543,568,908 - 43,673,089 (+)NCBICelera
Cytogenetic Map15q22.31NCBI
HuRef1543,515,493 - 43,620,002 (+)NCBIHuRef
CHM1_11566,797,173 - 66,901,898 (+)NCBICHM1_1
T2T-CHM13v2.01564,208,363 - 64,313,019 (+)NCBIT2T-CHM13v2.0
Map2k1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39964,093,066 - 64,160,887 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl964,093,052 - 64,160,913 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm38964,185,769 - 64,253,605 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl964,185,770 - 64,253,631 (-)Ensemblmm10GRCm38
MGSCv37964,033,600 - 64,101,412 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36963,983,794 - 64,051,338 (-)NCBIMGSCv36mm8
Celera961,410,935 - 61,478,604 (-)NCBICelera
Cytogenetic Map9CNCBI
cM Map934.55NCBI
Map2k1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8873,578,747 - 73,650,184 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl873,578,752 - 73,650,184 (-)EnsemblGRCr8
mRatBN7.2864,683,449 - 64,754,900 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl864,683,449 - 64,755,147 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx870,198,296 - 70,269,639 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0868,470,887 - 68,542,228 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0866,340,874 - 66,412,220 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0869,134,218 - 69,722,573 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl869,134,223 - 69,164,758 (-)Ensemblrn6Rnor6.0
Rnor_5.0868,840,454 - 68,877,679 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4868,379,074 - 68,451,554 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera864,090,188 - 64,161,314 (-)NCBICelera
RGSC_v3.1868,398,125 - 68,470,608 (-)NCBI
Cytogenetic Map8q24NCBI
Map2k1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554509,181,851 - 9,239,648 (-)Ensembl
ChiLan1.0NW_0049554509,181,851 - 9,205,277 (-)NCBIChiLan1.0ChiLan1.0
MAP2K1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21655,642,226 - 55,744,013 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11559,814,985 - 59,916,768 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01545,337,117 - 45,438,826 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11563,613,988 - 63,714,928 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1563,613,961 - 63,714,161 (+)EnsemblpanPan2panpan1.1
MAP2K1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13030,683,192 - 30,760,479 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3030,683,107 - 30,760,479 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha3030,613,296 - 30,690,593 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.03030,879,701 - 30,957,083 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3030,878,118 - 30,957,083 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13030,809,219 - 30,886,485 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03030,868,842 - 30,945,867 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03031,110,222 - 31,187,514 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Map2k1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640108,704,376 - 108,780,234 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647126,589,161 - 26,628,302 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493647126,589,251 - 26,628,302 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAP2K1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1164,381,845 - 164,471,226 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11164,381,892 - 164,469,313 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21182,187,631 - 182,196,671 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MAP2K1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12617,059,122 - 17,168,787 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2617,060,054 - 17,168,782 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_023666048124,281,623 - 124,391,821 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Map2k1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247816,222,365 - 6,285,531 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046247816,222,365 - 6,285,398 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in MAP2K1
608 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002755.4(MAP2K1):c.995T>G (p.Leu332Arg) single nucleotide variant not provided [RCV000519423] Chr15:66489249 [GRCh38]
Chr15:66781587 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.126TGA[1] (p.Asp43del) microsatellite RASopathy [RCV000547883] Chr15:66435072..66435074 [GRCh38]
Chr15:66727410..66727412 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.896-5T>C single nucleotide variant Melorheostosis [RCV005004212]|RASopathy [RCV000519252]|not specified [RCV005056115] Chr15:66487223 [GRCh38]
Chr15:66779561 [GRCh37]
Chr15:15q22.31		 benign|likely benign|uncertain significance
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000520164]|Cardiofaciocutaneous syndrome 3 [RCV000014278]|RASopathy [RCV004760331]|not provided [RCV000158002] Chr15:66435104 [GRCh38]
Chr15:66727442 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000208757]|Cardiofaciocutaneous syndrome 3 [RCV000043672]|Cardiovascular phenotype [RCV004984640]|MAP2K1-related disorder [RCV004532347]|Melorheostosis [RCV001197351]|Noonan syndrome 1 [RCV000763362]|Noonan syndrome 1 [RCV003450638]|RASopathy [RCV000541525]|not provided [RCV000207506] Chr15:66436843 [GRCh38]
Chr15:66729181 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000211725]|Cardiofaciocutaneous syndrome 3 [RCV000043673]|RASopathy [RCV001234104]|not provided [RCV000207493] Chr15:66436837 [GRCh38]
Chr15:66729175 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_002755.3(MAP2K1):c.81-14888G>T single nucleotide variant Lung cancer [RCV000099624] Chr15:66420139 [GRCh38]
Chr15:66712477 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.957C>T (p.Asn319=) single nucleotide variant Cardiovascular phenotype [RCV004018926]|MAP2K1-related disorder [RCV004537183]|RASopathy [RCV001423710]|not provided [RCV001697068]|not specified [RCV000043639] Chr15:66487289 [GRCh38]
Chr15:66779627 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1022+10C>T single nucleotide variant RASopathy [RCV002513480]|not specified [RCV000037586] Chr15:66489286 [GRCh38]
Chr15:66781624 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1023-8C>T single nucleotide variant RASopathy [RCV000522936]|not provided [RCV001705634]|not specified [RCV000037587] Chr15:66489710 [GRCh38]
Chr15:66782048 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.1068+12_1068+15del microsatellite Cardio-facio-cutaneous syndrome [RCV000349253]|Noonan syndrome [RCV000296799]|Noonan syndrome and Noonan-related syndrome [RCV001813321]|RASopathy [RCV000157994]|not provided [RCV001727530]|not specified [RCV000037588] Chr15:66489771..66489774 [GRCh38]
Chr15:66782109..66782112 [GRCh37]
Chr15:15q22.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002755.4(MAP2K1):c.1137C>T (p.Ile379=) single nucleotide variant Cardiovascular phenotype [RCV002321500]|MAP2K1-related disorder [RCV004528155]|Noonan syndrome and Noonan-related syndrome [RCV001813309]|RASopathy [RCV000477005]|not provided [RCV001536453]|not specified [RCV000037589] Chr15:66490570 [GRCh38]
Chr15:66782908 [GRCh37]
Chr15:15q22.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000037590]|Cardiofaciocutaneous syndrome 3 [RCV001787832]|RASopathy [RCV003539771]|not specified [RCV001582510] Chr15:66435070 [GRCh38]
Chr15:66727408 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic|uncertain significance
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000037591]|RASopathy [RCV000158014] Chr15:66435115 [GRCh38]
Chr15:66727453 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic|uncertain significance
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) single nucleotide variant Cardiovascular phenotype [RCV002453290]|Melorheostosis [RCV002504859]|Noonan syndrome and Noonan-related syndrome [RCV001813310]|RASopathy [RCV000526367]|not provided [RCV003390720]|not specified [RCV000037592] Chr15:66435183 [GRCh38]
Chr15:66727521 [GRCh37]
Chr15:15q22.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000522848]|Noonan syndrome and Noonan-related syndrome [RCV001813322]|RASopathy [RCV004760354]|not provided [RCV000158005] Chr15:66435221 [GRCh38]
Chr15:66727559 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic|uncertain significance
NM_002755.4(MAP2K1):c.315C>T (p.Pro105=) single nucleotide variant Cardiovascular phenotype [RCV002321510]|Noonan syndrome and Noonan-related syndrome [RCV001813323]|RASopathy [RCV000227559]|not provided [RCV001729364]|not specified [RCV000037594] Chr15:66436769 [GRCh38]
Chr15:66729107 [GRCh37]
Chr15:15q22.31		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000037595]|Cardiofaciocutaneous syndrome 3 [RCV001542689]|Noonan syndrome and Noonan-related syndrome [RCV001813306]|RASopathy [RCV002513329]|not provided [RCV000680623] Chr15:66436825 [GRCh38]
Chr15:66729163 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000037596]|Inborn genetic diseases [RCV000623628]|not provided [RCV001811234] Chr15:66436842 [GRCh38]
Chr15:66729180 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_002755.4(MAP2K1):c.648C>T (p.Ile216=) single nucleotide variant Cardiovascular phenotype [RCV002362628]|MAP2K1-related disorder [RCV004534796]|Noonan syndrome and Noonan-related syndrome [RCV001813324]|RASopathy [RCV000462219]|not provided [RCV001530750]|not specified [RCV000037597] Chr15:66481834 [GRCh38]
Chr15:66774172 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.6C>T (p.Pro2=) single nucleotide variant Cardiovascular phenotype [RCV002371810]|Noonan syndrome and Noonan-related syndrome [RCV001813304]|RASopathy [RCV000525445]|not provided [RCV001636615]|not specified [RCV000037598] Chr15:66387353 [GRCh38]
Chr15:66679691 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) single nucleotide variant Cardiovascular phenotype [RCV002371811]|Noonan syndrome and Noonan-related syndrome [RCV001813307]|RASopathy [RCV000205637]|not provided [RCV001705632]|not specified [RCV000037599] Chr15:66485007 [GRCh38]
Chr15:66777345 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.726G>T (p.Val242=) single nucleotide variant Cardiovascular phenotype [RCV002381305]|MAP2K1-related disorder [RCV004541111]|RASopathy [RCV000655000]|not provided [RCV001588850]|not specified [RCV000037600] Chr15:66485022 [GRCh38]
Chr15:66777360 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.804C>G (p.Ala268=) single nucleotide variant Cardiovascular phenotype [RCV002415469]|MAP2K1-related disorder [RCV004534797]|Noonan syndrome and Noonan-related syndrome [RCV001813325]|RASopathy [RCV000522713]|not provided [RCV000587925]|not specified [RCV000037601] Chr15:66485100 [GRCh38]
Chr15:66777438 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val) single nucleotide variant Cardiovascular phenotype [RCV004018723]|MAP2K1-related disorder [RCV004532502]|RASopathy [RCV000519375]|not provided [RCV001719721]|not specified [RCV000037602] Chr15:66485144 [GRCh38]
Chr15:66777482 [GRCh37]
Chr15:15q22.31		 benign|likely benign|uncertain significance
NM_002755.4(MAP2K1):c.875C>G (p.Thr292Ser) single nucleotide variant Melorheostosis [RCV005003432]|RASopathy [RCV001852782]|not specified [RCV000037603] Chr15:66485171 [GRCh38]
Chr15:66777509 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.879C>T (p.Pro293=) single nucleotide variant RASopathy [RCV002054673]|not specified [RCV000037604] Chr15:66485175 [GRCh38]
Chr15:66777513 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.-2A>G single nucleotide variant Cardiovascular phenotype [RCV002433489]|Noonan syndrome and Noonan-related syndrome [RCV001813303]|RASopathy [RCV002513328]|not provided [RCV000860593]|not specified [RCV000080030] Chr15:66387346 [GRCh38]
Chr15:66679684 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.694-12TC[4] microsatellite Cardio-facio-cutaneous syndrome [RCV000328312]|Noonan syndrome [RCV000284919]|Noonan syndrome and Noonan-related syndrome [RCV001813375]|RASopathy [RCV000521169]|not provided [RCV000419051]|not specified [RCV000080031] Chr15:66484977..66484978 [GRCh38]
Chr15:66777315..66777316 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.69C>T (p.Thr23=) single nucleotide variant Cardiovascular phenotype [RCV002362763]|MAP2K1-related disorder [RCV004544265]|RASopathy [RCV000523509]|not provided [RCV004704981]|not specified [RCV000154751] Chr15:66387416 [GRCh38]
Chr15:66679754 [GRCh37]
Chr15:15q22.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002755.4(MAP2K1):c.636C>T (p.Ser212=) single nucleotide variant Cardiovascular phenotype [RCV002362764]|MAP2K1-related disorder [RCV004532516]|RASopathy [RCV000864220]|not specified [RCV000126669] Chr15:66481822 [GRCh38]
Chr15:66774160 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.970A>C (p.Lys324Gln) single nucleotide variant RASopathy [RCV002541807]|not specified [RCV001290543] Chr15:66489224 [GRCh38]
Chr15:66781562 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.792T>G (p.Pro264=) single nucleotide variant Cardiovascular phenotype [RCV002421209]|RASopathy [RCV002072232]|not provided [RCV001572178] Chr15:66485088 [GRCh38]
Chr15:66777426 [GRCh37]
Chr15:15q22.31		 likely benign
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
NM_002755.4(MAP2K1):c.-31dup duplication not specified [RCV000154478] Chr15:66387311..66387312 [GRCh38]
Chr15:66679649..66679650 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.323G>A (p.Arg108Gln) single nucleotide variant Cardiovascular phenotype [RCV004019873]|RASopathy [RCV000654956]|not provided [RCV002223794]|not specified [RCV000156157] Chr15:66436777 [GRCh38]
Chr15:66729115 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) single nucleotide variant Autism spectrum disorder [RCV000754677]|Cardio-facio-cutaneous syndrome [RCV000208771]|Cardiofaciocutaneous syndrome 1 [RCV004760352]|Cardiofaciocutaneous syndrome 3 [RCV000192193]|Cardiovascular phenotype [RCV002415455]|MAP2K1-related RASopathy [RCV001095724]|Melorheostosis [RCV003224114]|Noonan syndrome [RCV000844673]|RASopathy [RCV000158004]|not provided [RCV000212506] Chr15:66435145 [GRCh38]
Chr15:66727483 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_002755.4(MAP2K1):c.927A>T (p.Ala309=) single nucleotide variant Cardiovascular phenotype [RCV002371812]|Noonan syndrome and Noonan-related syndrome [RCV001813308]|RASopathy [RCV000467423]|not provided [RCV001705633]|not specified [RCV000154534] Chr15:66487259 [GRCh38]
Chr15:66779597 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.56C>G (p.Ala19Gly) single nucleotide variant Melorheostosis [RCV005003501]|RASopathy [RCV000819149]|not specified [RCV000154603] Chr15:66387403 [GRCh38]
Chr15:66679741 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.631G>A (p.Val211Ile) single nucleotide variant RASopathy [RCV000700016]|not specified [RCV000156699] Chr15:66481817 [GRCh38]
Chr15:66774155 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.156C>T (p.Ala52=) single nucleotide variant Cardiovascular phenotype [RCV003298040]|RASopathy [RCV000868382]|not provided [RCV001610307]|not specified [RCV000151007] Chr15:66435102 [GRCh38]
Chr15:66727440 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly) single nucleotide variant Noonan syndrome [RCV000824938]|RASopathy [RCV001250390]|not provided [RCV000153454] Chr15:66481794 [GRCh38]
Chr15:66774132 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002755.3:c.-37insC insertion Rasopathy [RCV000157996] Chr15:15q22.31 benign
NM_002755.3:c.-31insC insertion Rasopathy [RCV000157997] Chr15:15q22.31 benign
NM_002755.4(MAP2K1):c.438+20C>T single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV001775547]|RASopathy [RCV002054547]|not provided [RCV001668149]|not specified [RCV000157670] Chr15:66436912 [GRCh38]
Chr15:66729250 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.693+10G>A single nucleotide variant RASopathy [RCV002053901]|not provided [RCV000157671]|not specified [RCV000603115] Chr15:66481889 [GRCh38]
Chr15:66774227 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.3(MAP2K1):c.1068+8_1068+11delTATT deletion Rasopathy [RCV000157992] Chr15:66489771..66489774 [GRCh38]
Chr15:66782109..66782112 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.1068+9A>G single nucleotide variant MAP2K1-related disorder [RCV004535030]|RASopathy [RCV001030078]|not provided [RCV001721005]|not specified [RCV000157993] Chr15:66489772 [GRCh38]
Chr15:66782110 [GRCh37]
Chr15:15q22.31		 benign|likely benign|uncertain significance
NM_002755.4(MAP2K1):c.277G>A (p.Val93Ile) single nucleotide variant Cardiovascular phenotype [RCV002433694]|Melorheostosis [RCV005394541]|RASopathy [RCV001857557]|not provided [RCV000680291] Chr15:66435223 [GRCh38]
Chr15:66727561 [GRCh37]
Chr15:15q22.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002755.3(MAP2K1):c.694-8_694-7insTC insertion Rasopathy [RCV000157998] Chr15:66484982..66484983 [GRCh38]
Chr15:66777320..66777321 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.1168G>A (p.Ala390Thr) single nucleotide variant MAP2K1-related disorder [RCV004535031]|RASopathy [RCV000537813]|not provided [RCV000158001] Chr15:66490601 [GRCh38]
Chr15:66782939 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.179T>G (p.Val60Gly) single nucleotide variant not provided [RCV000158003] Chr15:66435125 [GRCh38]
Chr15:66727463 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.308T>G (p.Ile103Ser) single nucleotide variant not provided [RCV000158006] Chr15:66436762 [GRCh38]
Chr15:66729100 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.355C>T (p.His119Tyr) single nucleotide variant MAP2K1-related disorder [RCV001089756]|MAP2K1-related rasopathy-like syndrome [RCV001526460]|RASopathy [RCV001385117]|not provided [RCV000505738] Chr15:66436809 [GRCh38]
Chr15:66729147 [GRCh37]
Chr15:15q22.31		 pathogenic|uncertain significance|not provided
NM_002755.4(MAP2K1):c.412G>A (p.Glu138Lys) single nucleotide variant not provided [RCV000158009] Chr15:66436866 [GRCh38]
Chr15:66729204 [GRCh37]
Chr15:15q22.31		 pathogenic|uncertain significance
NM_002755.4(MAP2K1):c.568+1G>A single nucleotide variant not provided [RCV000767149]|not specified [RCV000158010] Chr15:66444708 [GRCh38]
Chr15:66737046 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.657G>C (p.Met219Ile) single nucleotide variant not provided [RCV000158011] Chr15:66481843 [GRCh38]
Chr15:66774181 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.730T>G (p.Ser244Ala) single nucleotide variant not provided [RCV000158012] Chr15:66485026 [GRCh38]
Chr15:66777364 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.396G>A (p.Ala132=) single nucleotide variant Cardiovascular phenotype [RCV003298039]|RASopathy [RCV000195548]|not provided [RCV001682723] Chr15:66436850 [GRCh38]
Chr15:66729188 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.292-3C>T single nucleotide variant Cardiovascular phenotype [RCV004020472]|MAP2K1-related disorder [RCV004530194]|RASopathy [RCV000198762]|not provided [RCV003456377]|not specified [RCV000825076] Chr15:66436743 [GRCh38]
Chr15:66729081 [GRCh37]
Chr15:15q22.31		 benign|likely benign|uncertain significance
NM_002755.4(MAP2K1):c.305A>G (p.Glu102Gly) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV000192194]|RASopathy [RCV001850428] Chr15:66436759 [GRCh38]
Chr15:66729097 [GRCh37]
Chr15:15q22.31		 pathogenic|not provided
GRCh37/hg19 15q22.31(chr15:66643638-66745287)x1 copy number loss See cases [RCV000240224] Chr15:66643638..66745287 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del) deletion Cardiofaciocutaneous syndrome 3 [RCV002277569]|RASopathy [RCV002515536]|not provided [RCV000207500] Chr15:66435119..66435121 [GRCh38]
Chr15:66727457..66727459 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_002755.4(MAP2K1):c.729G>T (p.Gln243His) single nucleotide variant RASopathy [RCV001853460]|not provided [RCV001507882]|not specified [RCV000219809] Chr15:66485025 [GRCh38]
Chr15:66777363 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV001312196]|Noonan syndrome 1 [RCV000763361]|Noonan syndrome [RCV000844674]|RASopathy [RCV000220187] Chr15:66436818 [GRCh38]
Chr15:66729156 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic|uncertain significance
NM_002755.4(MAP2K1):c.439-8G>A single nucleotide variant MAP2K1-related disorder [RCV004532501]|RASopathy [RCV001460330]|not provided [RCV001682724]|not specified [RCV000215465] Chr15:66443272 [GRCh38]
Chr15:66735610 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.803C>T (p.Ala268Val) single nucleotide variant Cardiovascular phenotype [RCV005372265]|RASopathy [RCV005090069]|not specified [RCV000214154] Chr15:66485099 [GRCh38]
Chr15:66777437 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.292-4C>G single nucleotide variant RASopathy [RCV005055745]|not specified [RCV000218757] Chr15:66436742 [GRCh38]
Chr15:66729080 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1039G>A (p.Ala347Thr) single nucleotide variant RASopathy [RCV000527582]|not specified [RCV000223062] Chr15:66489734 [GRCh38]
Chr15:66782072 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.39G>A (p.Pro13=) single nucleotide variant Cardiovascular phenotype [RCV005372261]|RASopathy [RCV002517478]|not provided [RCV005425813]|not specified [RCV000221741] Chr15:66387386 [GRCh38]
Chr15:66679724 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.-85G>C single nucleotide variant not provided [RCV001708514] Chr15:66387263 [GRCh38]
Chr15:66679601 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.517-2A>T single nucleotide variant not provided [RCV000595741] Chr15:66444654 [GRCh38]
Chr15:66736992 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.291+22G>C single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV001775548]|Squamous cell lung carcinoma [RCV001250983]|not provided [RCV001689582]|not specified [RCV000250761] Chr15:66435259 [GRCh38]
Chr15:66727597 [GRCh37]
Chr15:15q22.31		 benign|uncertain significance
NM_002755.4(MAP2K1):c.1098T>C (p.Ala366=) single nucleotide variant Cardiovascular phenotype [RCV002456001]|RASopathy [RCV000521262] Chr15:66490531 [GRCh38]
Chr15:66782869 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.1023-20C>T single nucleotide variant RASopathy [RCV002058124]|not specified [RCV000254522] Chr15:66489698 [GRCh38]
Chr15:66782036 [GRCh37]
Chr15:15q22.31		 likely benign
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
NM_006049.4(SNAPC5):c.22-555C>T single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000403512]|Noonan syndrome [RCV000302049] Chr15:66491272 [GRCh38]
Chr15:66783610 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.*148_*149del deletion Cardio-facio-cutaneous syndrome [RCV000364424]|Noonan syndrome [RCV000272413] Chr15:66490763..66490764 [GRCh38]
Chr15:66783101..66783102 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_006049.4(SNAPC5):c.22-795A>G single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000308947]|Noonan syndrome [RCV000272524] Chr15:66491512 [GRCh38]
Chr15:66783850 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.*308C>A single nucleotide variant not provided [RCV001668736] Chr15:66490923 [GRCh38]
Chr15:66783261 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.3(MAP2K1):c.-448C>T single nucleotide variant not provided [RCV001560066] Chr15:66386900 [GRCh38]
Chr15:66679238 [GRCh37]
Chr15:15q22.31		 likely benign
NM_006049.4(SNAPC5):c.22-513C>A single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000337214]|Noonan syndrome [RCV000282221] Chr15:66491230 [GRCh38]
Chr15:66783568 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1069-12C>A single nucleotide variant RASopathy [RCV002580138] Chr15:66490490 [GRCh38]
Chr15:66782828 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.*917dup duplication Cardio-facio-cutaneous syndrome [RCV000368341]|Noonan syndrome [RCV000273479]|not provided [RCV003391140] Chr15:66491522..66491523 [GRCh38]
Chr15:66783860..66783861 [GRCh37]
Chr15:15q22.31		 benign|uncertain significance
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV001027695]|Noonan syndrome 1 [RCV000763976]|RASopathy [RCV001250384]|not provided [RCV000388257] Chr15:66436777 [GRCh38]
Chr15:66729115 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic|uncertain significance
NM_006049.4(SNAPC5):c.22-678A>G single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000342938]|Noonan syndrome [RCV000402679] Chr15:66491395 [GRCh38]
Chr15:66783733 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.3(MAP2K1):c.-408G>T single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000340549]|Noonan syndrome [RCV000405144] Chr15:66386940 [GRCh38]
Chr15:66679278 [GRCh37]
Chr15:15q22.31		 likely benign
NM_006049.4(SNAPC5):c.22-323C>A single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000293692]|Noonan syndrome [RCV000385570] Chr15:66491040 [GRCh38]
Chr15:66783378 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1130C>T (p.Ser377Phe) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813669]|RASopathy [RCV003539412] Chr15:66490563 [GRCh38]
Chr15:66782901 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_006049.4(SNAPC5):c.22-788T>C single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000307933]|Noonan syndrome [RCV000362461] Chr15:66491505 [GRCh38]
Chr15:66783843 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.3(MAP2K1):c.-405T>G single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000343981]|Noonan syndrome [RCV000291251] Chr15:66386943 [GRCh38]
Chr15:66679281 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_006049.4(SNAPC5):c.22-143C>T single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000325153]|Noonan syndrome [RCV000382006] Chr15:66490860 [GRCh38]
Chr15:66783198 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.767T>C (p.Met256Thr) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV003314431] Chr15:66485063 [GRCh38]
Chr15:66777401 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.-220CG[4] microsatellite Cardio-facio-cutaneous syndrome [RCV000313380]|Noonan syndrome [RCV000405422]|not provided [RCV001545000] Chr15:66387126..66387127 [GRCh38]
Chr15:66679464..66679465 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.*917del deletion Cardio-facio-cutaneous syndrome [RCV000333181]|Noonan syndrome [RCV000387666] Chr15:66491523 [GRCh38]
Chr15:66783861 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.3(MAP2K1):c.-456C>G single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000278612]|Noonan syndrome [RCV000323119] Chr15:66386892 [GRCh38]
Chr15:66679230 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_006049.4(SNAPC5):c.22-512C>A single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000337014]|Noonan syndrome [RCV000375307] Chr15:66491229 [GRCh38]
Chr15:66783567 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.3(MAP2K1):c.-461C>T single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000318388]|Noonan syndrome [RCV000375395] Chr15:66386887 [GRCh38]
Chr15:66679225 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.3(MAP2K1):c.-220C>T single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000370433]|Noonan syndrome [RCV000394713] Chr15:66387128 [GRCh38]
Chr15:66679466 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.503A>G (p.Lys168Arg) single nucleotide variant Cardiovascular phenotype [RCV004040778]|RASopathy [RCV002541072]|not provided [RCV001776725] Chr15:66443344 [GRCh38]
Chr15:66735682 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.875C>T (p.Thr292Ile) single nucleotide variant RASopathy [RCV002531114]|not provided [RCV005223039]|not specified [RCV000596132] Chr15:66485171 [GRCh38]
Chr15:66777509 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.939G>C (p.Leu313Phe) single nucleotide variant RASopathy [RCV003767412]|not specified [RCV000591643] Chr15:66487271 [GRCh38]
Chr15:66779609 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.812T>G (p.Leu271Arg) single nucleotide variant not provided [RCV000589002] Chr15:66485108 [GRCh38]
Chr15:66777446 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.11A>G (p.Lys4Arg) single nucleotide variant RASopathy [RCV003539978]|not provided [RCV000587428] Chr15:66387358 [GRCh38]
Chr15:66679696 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.802G>A (p.Ala268Thr) single nucleotide variant not specified [RCV000590458] Chr15:66485098 [GRCh38]
Chr15:66777436 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.251A>G (p.Lys84Arg) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813514]|RASopathy [RCV001860225]|not provided [RCV000681073]|not specified [RCV000593777] Chr15:66435197 [GRCh38]
Chr15:66727535 [GRCh37]
Chr15:15q22.31		 uncertain significance
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
NM_002755.4(MAP2K1):c.1066A>G (p.Met356Val) single nucleotide variant Cardiovascular phenotype [RCV003168600]|RASopathy [RCV001052082]|not specified [RCV000412749] Chr15:66489761 [GRCh38]
Chr15:66782099 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.186_200del (p.Glu62_Asp66del) deletion not provided [RCV000413323] Chr15:66435130..66435144 [GRCh38]
Chr15:66727468..66727482 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.371C>G (p.Pro124Arg) single nucleotide variant not provided [RCV000413383] Chr15:66436825 [GRCh38]
Chr15:66729163 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_002755.4(MAP2K1):c.516+2T>C single nucleotide variant not specified [RCV000413367] Chr15:66443359 [GRCh38]
Chr15:66735697 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.179_193del (p.Val60_Lys64del) deletion not provided [RCV000413847] Chr15:66435120..66435134 [GRCh38]
Chr15:66727458..66727472 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.45del (p.Asp16fs) deletion not provided [RCV000722820] Chr15:66387388 [GRCh38]
Chr15:66679726 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.871A>G (p.Arg291Gly) single nucleotide variant Cardiovascular phenotype [RCV003298420]|RASopathy [RCV000654948]|not specified [RCV000413673] Chr15:66485167 [GRCh38]
Chr15:66777505 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.896-7T>C single nucleotide variant RASopathy [RCV001429978]|not specified [RCV000413957] Chr15:66487221 [GRCh38]
Chr15:66779559 [GRCh37]
Chr15:15q22.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002755.4(MAP2K1):c.1172C>T (p.Ala391Val) single nucleotide variant Cardiovascular phenotype [RCV004022161]|RASopathy [RCV001320212]|not provided [RCV001718804] Chr15:66490605 [GRCh38]
Chr15:66782943 [GRCh37]
Chr15:15q22.31		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
NM_002755.4(MAP2K1):c.296T>C (p.Ile99Thr) single nucleotide variant Neoplasm [RCV000420695] Chr15:66436750 [GRCh38]
Chr15:66729088 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.693+4T>G single nucleotide variant RASopathy [RCV005090742]|not specified [RCV000423752] Chr15:66481883 [GRCh38]
Chr15:66774221 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.170A>C (p.Lys57Thr) single nucleotide variant Gastric adenocarcinoma [RCV000437934]|Lung adenocarcinoma [RCV000444739]|Malignant melanoma of skin [RCV000427226]|Non-Hodgkin lymphoma [RCV000436846]|Prostate adenocarcinoma [RCV000442142]|Squamous cell carcinoma of the head and neck [RCV000426154] Chr15:66435116 [GRCh38]
Chr15:66727454 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.439-19C>A single nucleotide variant RASopathy [RCV002065058]|not provided [RCV000437721]|not specified [RCV001199938] Chr15:66443261 [GRCh38]
Chr15:66735599 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.332T>G (p.Ile111Ser) single nucleotide variant Melanoma [RCV000434378] Chr15:66436786 [GRCh38]
Chr15:66729124 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_002755.4(MAP2K1):c.439-18T>C single nucleotide variant not provided [RCV000441577] Chr15:66443262 [GRCh38]
Chr15:66735600 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.362G>C (p.Cys121Ser) single nucleotide variant Lung adenocarcinoma [RCV000424259]|Melanoma [RCV000441586] Chr15:66436816 [GRCh38]
Chr15:66729154 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_002755.4(MAP2K1):c.568+9T>C single nucleotide variant RASopathy [RCV001489198]|not provided [RCV000438266] Chr15:66444716 [GRCh38]
Chr15:66737054 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.370C>A (p.Pro124Thr) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV000680037] Chr15:66436824 [GRCh38]
Chr15:66729162 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.157T>A (p.Phe53Ile) single nucleotide variant Gastric adenocarcinoma [RCV000432046]|Lung adenocarcinoma [RCV000431446]|Malignant melanoma of skin [RCV000442281]|Neoplasm of the large intestine [RCV000421374] Chr15:66435103 [GRCh38]
Chr15:66727441 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.1023-17G>C single nucleotide variant RASopathy [RCV002064986]|not provided [RCV000435568] Chr15:66489701 [GRCh38]
Chr15:66782039 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.157T>G (p.Phe53Val) single nucleotide variant Gastric adenocarcinoma [RCV000421852]|Lung adenocarcinoma [RCV000429056]|Malignant melanoma of skin [RCV000439716]|Neoplasm of the large intestine [RCV000422476] Chr15:66435103 [GRCh38]
Chr15:66727441 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.360G>T (p.Glu120Asp) single nucleotide variant Neoplasm [RCV000439225] Chr15:66436814 [GRCh38]
Chr15:66729152 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.632T>A (p.Val211Asp) single nucleotide variant Neoplasm [RCV000422017] Chr15:66481818 [GRCh38]
Chr15:66774156 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.438+8A>T single nucleotide variant RASopathy [RCV000522501]|not provided [RCV000429035] Chr15:66436900 [GRCh38]
Chr15:66729238 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.1068+18G>A single nucleotide variant RASopathy [RCV002061425]|not provided [RCV000432419]|not specified [RCV002509382] Chr15:66489781 [GRCh38]
Chr15:66782119 [GRCh37]
Chr15:15q22.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002755.4(MAP2K1):c.157T>C (p.Phe53Leu) single nucleotide variant Melanoma [RCV000435966] Chr15:66435103 [GRCh38]
Chr15:66727441 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_002755.4(MAP2K1):c.383G>A (p.Gly128Asp) single nucleotide variant RASopathy [RCV005071868] Chr15:66436837 [GRCh38]
Chr15:66729175 [GRCh37]
Chr15:15q22.31		 likely pathogenic|uncertain significance
NM_002755.4(MAP2K1):c.177G>A (p.Lys59=) single nucleotide variant RASopathy [RCV001452183]|not specified [RCV000443108] Chr15:66435123 [GRCh38]
Chr15:66727461 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.569-19T>A single nucleotide variant RASopathy [RCV002061424]|not specified [RCV000422159] Chr15:66481736 [GRCh38]
Chr15:66774074 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.361T>A (p.Cys121Ser) single nucleotide variant Lung adenocarcinoma [RCV000439789] Chr15:66436815 [GRCh38]
Chr15:66729153 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.169A>G (p.Lys57Glu) single nucleotide variant Melorheostosis [RCV002051705] Chr15:66435115 [GRCh38]
Chr15:66727453 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_002755.4(MAP2K1):c.385T>C (p.Phe129Leu) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV005252499] Chr15:66436839 [GRCh38]
Chr15:66729177 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.984A>C (p.Gly328=) single nucleotide variant Cardiovascular phenotype [RCV002379399]|not provided [RCV000422400] Chr15:66489238 [GRCh38]
Chr15:66781576 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.517-4C>T single nucleotide variant RASopathy [RCV002064946]|not specified [RCV000425776] Chr15:66444652 [GRCh38]
Chr15:66736990 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.644T>C (p.Leu215Pro) single nucleotide variant Neoplasm [RCV000432883] Chr15:66481830 [GRCh38]
Chr15:66774168 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.308T>A (p.Ile103Asn) single nucleotide variant Neoplasm [RCV000429680] Chr15:66436762 [GRCh38]
Chr15:66729100 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV003329162]|Inborn genetic diseases [RCV001266169] Chr15:66481793 [GRCh38]
Chr15:66774131 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_002755.4(MAP2K1):c.332T>A (p.Ile111Asn) single nucleotide variant RASopathy [RCV001237931] Chr15:66436786 [GRCh38]
Chr15:66729124 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) single nucleotide variant Extracranial arteriovenous malformation [RCV005251122]|Melorheostosis [RCV002051704]|Non-small cell lung carcinoma [RCV000418731]|not provided [RCV002254296] Chr15:66435113 [GRCh38]
Chr15:66727451 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_002755.4(MAP2K1):c.371C>A (p.Pro124Gln) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV001078439] Chr15:66436825 [GRCh38]
Chr15:66729163 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_002755.4(MAP2K1):c.159T>G (p.Phe53Leu) single nucleotide variant Gastric adenocarcinoma [RCV000440832]|Lung adenocarcinoma [RCV000436917]|Malignant melanoma of skin [RCV000430169]|Neoplasm of the large intestine [RCV000419468] Chr15:66435105 [GRCh38]
Chr15:66727443 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn) single nucleotide variant Arteriovenous malformation [RCV005251535] Chr15:66435117 [GRCh38]
Chr15:66727455 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_002755.4(MAP2K1):c.356A>C (p.His119Pro) single nucleotide variant Neoplasm [RCV000423068] Chr15:66436810 [GRCh38]
Chr15:66729148 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.1005A>G (p.Gln335=) single nucleotide variant Cardiovascular phenotype [RCV002411316]|Noonan syndrome and Noonan-related syndrome [RCV001813477]|RASopathy [RCV001851055]|not provided [RCV000436975]|not specified [RCV004800404] Chr15:66489259 [GRCh38]
Chr15:66781597 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.80+14G>A single nucleotide variant not provided [RCV000437036] Chr15:66387441 [GRCh38]
Chr15:66679779 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV000989347]|Noonan syndrome [RCV000824936]|RASopathy [RCV001250385]|not provided [RCV000482718] Chr15:66436824 [GRCh38]
Chr15:66729162 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic|uncertain significance
NM_002755.4(MAP2K1):c.790C>T (p.Pro264Ser) single nucleotide variant Melanoma [RCV000430494] Chr15:66485086 [GRCh38]
Chr15:66777424 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_002755.4(MAP2K1):c.360G>C (p.Glu120Asp) single nucleotide variant Neoplasm [RCV000433785] Chr15:66436814 [GRCh38]
Chr15:66729152 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.834G>A (p.Gln278=) single nucleotide variant Cardiovascular phenotype [RCV002436255]|RASopathy [RCV001419712]|not provided [RCV000440781] Chr15:66485130 [GRCh38]
Chr15:66777468 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1144A>C (p.Asn382His) single nucleotide variant Melanoma [RCV000441191] Chr15:66490577 [GRCh38]
Chr15:66782915 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_002755.4(MAP2K1):c.568+11A>T single nucleotide variant RASopathy [RCV002525483]|not provided [RCV000444866] Chr15:66444718 [GRCh38]
Chr15:66737056 [GRCh37]
Chr15:15q22.31		 likely benign
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA indel Melorheostosis [RCV002496870]|RASopathy [RCV002063783]|not provided [RCV000482690]|not specified [RCV003488628] Chr15:66435251..66435257 [GRCh38]
Chr15:66727589..66727595 [GRCh37]
Chr15:15q22.31		 likely benign
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_002755.4(MAP2K1):c.525A>G (p.Lys175=) single nucleotide variant RASopathy [RCV000556371] Chr15:66444664 [GRCh38]
Chr15:66737002 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1067T>C (p.Met356Thr) single nucleotide variant Cardiovascular phenotype [RCV003288479]|RASopathy [RCV003777188] Chr15:66489762 [GRCh38]
Chr15:66782100 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.937T>C (p.Leu313=) single nucleotide variant Cardiovascular phenotype [RCV003288481] Chr15:66487269 [GRCh38]
Chr15:66779607 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.291+18A>T single nucleotide variant RASopathy [RCV003767698]|not specified [RCV000613678] Chr15:66435255 [GRCh38]
Chr15:66727593 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.378C>T (p.Ile126=) single nucleotide variant Cardiovascular phenotype [RCV003160089]|RASopathy [RCV002531518]|not specified [RCV000613921] Chr15:66436832 [GRCh38]
Chr15:66729170 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1068_1068+1delinsCA indel not provided [RCV003313628] Chr15:66489763..66489764 [GRCh38]
Chr15:66782101..66782102 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.343C>G (p.Leu115Val) single nucleotide variant Cardiovascular phenotype [RCV004018722]|Noonan syndrome and Noonan-related syndrome [RCV001813305] Chr15:66436797 [GRCh38]
Chr15:66729135 [GRCh37]
Chr15:15q22.31		 likely pathogenic|uncertain significance
NM_002755.4(MAP2K1):c.156C>G (p.Ala52=) single nucleotide variant Cardiovascular phenotype [RCV002404627]|not provided [RCV003884655]|not specified [RCV000614324] Chr15:66435102 [GRCh38]
Chr15:66727440 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.917C>T (p.Pro306Leu) single nucleotide variant RASopathy [RCV000654941] Chr15:66487249 [GRCh38]
Chr15:66779587 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1123C>A (p.Leu375Ile) single nucleotide variant Cardiovascular phenotype [RCV004025945]|RASopathy [RCV000654970]|not specified [RCV001280605] Chr15:66490556 [GRCh38]
Chr15:66782894 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.810G>A (p.Glu270=) single nucleotide variant RASopathy [RCV000654981] Chr15:66485106 [GRCh38]
Chr15:66777444 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.569-8C>T single nucleotide variant RASopathy [RCV003539986]|not specified [RCV000605871] Chr15:66481747 [GRCh38]
Chr15:66774085 [GRCh37]
Chr15:15q22.31		 likely benign
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
NM_002755.4(MAP2K1):c.517-311C>A single nucleotide variant not provided [RCV000681244] Chr15:66444345 [GRCh38]
Chr15:66736683 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.3(MAP2K1):c.-767A>C single nucleotide variant not provided [RCV000681245] Chr15:66386581 [GRCh38]
Chr15:66678919 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.517-230A>C single nucleotide variant not provided [RCV000680961] Chr15:66444426 [GRCh38]
Chr15:66736764 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.961-254_961-251del deletion not provided [RCV000681332] Chr15:66488961..66488964 [GRCh38]
Chr15:66781299..66781302 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.517-253C>T single nucleotide variant not provided [RCV000681246] Chr15:66444403 [GRCh38]
Chr15:66736741 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.3(MAP2K1):c.-695A>T single nucleotide variant not provided [RCV000681328] Chr15:66386653 [GRCh38]
Chr15:66678991 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.693+275T>A single nucleotide variant not provided [RCV000681351] Chr15:66482154 [GRCh38]
Chr15:66774492 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.3(MAP2K1):c.-631C>T single nucleotide variant not provided [RCV000681330] Chr15:66386717 [GRCh38]
Chr15:66679055 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.896-291G>C single nucleotide variant not provided [RCV000681331] Chr15:66486937 [GRCh38]
Chr15:66779275 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.793C>T (p.Pro265Ser) single nucleotide variant RASopathy [RCV001204172]|not provided [RCV000680631] Chr15:66485089 [GRCh38]
Chr15:66777427 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.895+181A>G single nucleotide variant not provided [RCV000680655] Chr15:66485372 [GRCh38]
Chr15:66777710 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.569-118G>A single nucleotide variant not provided [RCV000680674] Chr15:66481637 [GRCh38]
Chr15:66773975 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.292-133A>C single nucleotide variant not provided [RCV000680673] Chr15:66436613 [GRCh38]
Chr15:66728951 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.3(MAP2K1):c.-547C>T single nucleotide variant not provided [RCV000680676] Chr15:66386801 [GRCh38]
Chr15:66679139 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.438+192C>T single nucleotide variant not provided [RCV000680730] Chr15:66437084 [GRCh38]
Chr15:66729422 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1068+159C>G single nucleotide variant not provided [RCV000680737] Chr15:66489922 [GRCh38]
Chr15:66782260 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.516+230_516+231insAG insertion not provided [RCV000680868] Chr15:66443587..66443588 [GRCh38]
Chr15:66735925..66735926 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.694-148G>C single nucleotide variant not provided [RCV000680879] Chr15:66484842 [GRCh38]
Chr15:66777180 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.411C>T (p.Gly137=) single nucleotide variant RASopathy [RCV000693489] Chr15:66436865 [GRCh38]
Chr15:66729203 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser) single nucleotide variant Cardiovascular phenotype [RCV002386272]|Noonan syndrome 1 [RCV000763977]|RASopathy [RCV000705987]|not provided [RCV001544809] Chr15:66489215 [GRCh38]
Chr15:66781553 [GRCh37]
Chr15:15q22.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002755.4(MAP2K1):c.731C>G (p.Ser244Ter) single nucleotide variant MAP2K1-related disorder [RCV004527801] Chr15:66485027 [GRCh38]
Chr15:66777365 [GRCh37]
Chr15:15q22.31		 uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_002755.4(MAP2K1):c.693+50G>C single nucleotide variant not provided [RCV001611656] Chr15:66481929 [GRCh38]
Chr15:66774267 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.771G>A (p.Ala257=) single nucleotide variant Cardiovascular phenotype [RCV002399936]|RASopathy [RCV002064682]|not provided [RCV000871841] Chr15:66485067 [GRCh38]
Chr15:66777405 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.276G>C (p.Leu92=) single nucleotide variant MAP2K1-related disorder [RCV004532503]|RASopathy [RCV003103719]|not provided [RCV000872639] Chr15:66435222 [GRCh38]
Chr15:66727560 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.*50G>A single nucleotide variant not provided [RCV001666763] Chr15:66490665 [GRCh38]
Chr15:66783003 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.520A>G (p.Ile174Val) single nucleotide variant not provided [RCV001549746] Chr15:66444659 [GRCh38]
Chr15:66736997 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.-105_-99dup duplication not provided [RCV001549963] Chr15:66387236..66387237 [GRCh38]
Chr15:66679574..66679575 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.396G>T (p.Ala132=) single nucleotide variant RASopathy [RCV000924407] Chr15:66436850 [GRCh38]
Chr15:66729188 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.108G>A (p.Lys36=) single nucleotide variant RASopathy [RCV001417569] Chr15:66435054 [GRCh38]
Chr15:66727392 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.71G>C (p.Ser24Thr) single nucleotide variant Melorheostosis [RCV005005019]|RASopathy [RCV001059941] Chr15:66387418 [GRCh38]
Chr15:66679756 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.174G>T (p.Gln58His) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV001034615] Chr15:66435120 [GRCh38]
Chr15:66727458 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.519A>T (p.Val173=) single nucleotide variant RASopathy [RCV001456490]|not specified [RCV000780391] Chr15:66444658 [GRCh38]
Chr15:66736996 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.568+6A>G single nucleotide variant RASopathy [RCV001869151]|not specified [RCV000780392] Chr15:66444713 [GRCh38]
Chr15:66737051 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.140G>A (p.Arg47Gln) single nucleotide variant RASopathy [RCV002535695]|not specified [RCV000781514] Chr15:66435086 [GRCh38]
Chr15:66727424 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV000787941] Chr15:66436842 [GRCh38]
Chr15:66729180 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_002755.4(MAP2K1):c.914G>A (p.Arg305Gln) single nucleotide variant Melorheostosis [RCV005012384]|RASopathy [RCV001052746]|not provided [RCV002298794] Chr15:66487246 [GRCh38]
Chr15:66779584 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1181_*2del (p.Ter394CysextTer?) deletion RASopathy [RCV000815974] Chr15:66490613..66490616 [GRCh38]
Chr15:66782951..66782954 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp) single nucleotide variant Noonan syndrome [RCV000824935] Chr15:66436776 [GRCh38]
Chr15:66729114 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys) single nucleotide variant Noonan syndrome [RCV000824939]|RASopathy [RCV005092461] Chr15:66485168 [GRCh38]
Chr15:66777506 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.1135A>G (p.Ile379Val) single nucleotide variant Cardiovascular phenotype [RCV004028886]|Melorheostosis [RCV005004448]|RASopathy [RCV000816398] Chr15:66490568 [GRCh38]
Chr15:66782906 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.263A>G (p.Lys88Arg) single nucleotide variant Cardiovascular phenotype [RCV004029192]|not specified [RCV000825953] Chr15:66435209 [GRCh38]
Chr15:66727547 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.137A>T (p.Gln46Leu) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000824934] Chr15:66435083 [GRCh38]
Chr15:66727421 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala) single nucleotide variant Noonan syndrome [RCV000824937] Chr15:66481763 [GRCh38]
Chr15:66774101 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr) single nucleotide variant Noonan syndrome [RCV000824940]|RASopathy [RCV003539369] Chr15:66490505 [GRCh38]
Chr15:66782843 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.342G>A (p.Glu114=) single nucleotide variant RASopathy [RCV002547277] Chr15:66436796 [GRCh38]
Chr15:66729134 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.439-8G>T single nucleotide variant RASopathy [RCV001412245] Chr15:66443272 [GRCh38]
Chr15:66735610 [GRCh37]
Chr15:15q22.31		 likely benign
NC_000015.10:g.(?_66387328)_(66444727_?)dup duplication RASopathy [RCV001032201] Chr15:66679666..66737065 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.29A>T (p.Gln10Leu) single nucleotide variant not specified [RCV001194347] Chr15:66387376 [GRCh38]
Chr15:66679714 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.546G>A (p.Glu182=) single nucleotide variant RASopathy [RCV002069300]|not specified [RCV001201222] Chr15:66444685 [GRCh38]
Chr15:66737023 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.53C>G (p.Ser18Cys) single nucleotide variant not provided [RCV000995375] Chr15:66387400 [GRCh38]
Chr15:66679738 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1180dup (p.Ter394LeuextTer?) duplication RASopathy [RCV001222800] Chr15:66490612..66490613 [GRCh38]
Chr15:66782950..66782951 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.70A>G (p.Ser24Gly) single nucleotide variant RASopathy [RCV001238194] Chr15:66387417 [GRCh38]
Chr15:66679755 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1091C>T (p.Ser364Phe) single nucleotide variant not provided [RCV003110069] Chr15:66490524 [GRCh38]
Chr15:66782862 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1069-145C>T single nucleotide variant not provided [RCV001568688] Chr15:66490357 [GRCh38]
Chr15:66782695 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.36C>T (p.Asn12=) single nucleotide variant not provided [RCV001581308] Chr15:66387383 [GRCh38]
Chr15:66679721 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.896-284dup duplication not provided [RCV001550539] Chr15:66486941..66486942 [GRCh38]
Chr15:66779279..66779280 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.80+33C>G single nucleotide variant not provided [RCV001643892] Chr15:66387460 [GRCh38]
Chr15:66679798 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.877C>T (p.Pro293Ser) single nucleotide variant not provided [RCV001572190] Chr15:66485173 [GRCh38]
Chr15:66777511 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.960+12C>T single nucleotide variant RASopathy [RCV003107021] Chr15:66487304 [GRCh38]
Chr15:66779642 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.332T>C (p.Ile111Thr) single nucleotide variant not provided [RCV004812965] Chr15:66436786 [GRCh38]
Chr15:66729124 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.149T>C (p.Leu50Pro) single nucleotide variant RASopathy [RCV003539394]|not provided [RCV001574759] Chr15:66435095 [GRCh38]
Chr15:66727433 [GRCh37]
Chr15:15q22.31		 pathogenic|uncertain significance
NM_002755.4(MAP2K1):c.569-13C>T single nucleotide variant RASopathy [RCV002073129]|not provided [RCV001673842]|not specified [RCV004690122] Chr15:66481742 [GRCh38]
Chr15:66774080 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.80+85del deletion not provided [RCV001655063] Chr15:66387512 [GRCh38]
Chr15:66679850 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.291+128_291+129dup duplication not provided [RCV001534670] Chr15:66435351..66435352 [GRCh38]
Chr15:66727689..66727690 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.1177G>A (p.Val393Ile) single nucleotide variant Melorheostosis [RCV005005263]|RASopathy [RCV001882719]|not provided [RCV001591958] Chr15:66490610 [GRCh38]
Chr15:66782948 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.1023-43C>T single nucleotide variant not provided [RCV001656382] Chr15:66489675 [GRCh38]
Chr15:66782013 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.1069-113C>T single nucleotide variant not provided [RCV001639958] Chr15:66490389 [GRCh38]
Chr15:66782727 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.1023-201del deletion not provided [RCV001575490] Chr15:66489517 [GRCh38]
Chr15:66781855 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.291+199C>T single nucleotide variant not provided [RCV001609558] Chr15:66435436 [GRCh38]
Chr15:66727774 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV001724794] Chr15:66436837 [GRCh38]
Chr15:66729175 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_002755.4(MAP2K1):c.1045A>C (p.Arg349=) single nucleotide variant RASopathy [RCV000938771] Chr15:66489740 [GRCh38]
Chr15:66782078 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.12G>A (p.Lys4=) single nucleotide variant Cardiovascular phenotype [RCV002382000]|RASopathy [RCV000875335] Chr15:66387359 [GRCh38]
Chr15:66679697 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.961-61_997dup duplication not specified [RCV001175100] Chr15:66489150..66489151 [GRCh38]
Chr15:66781488..66781489 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.853G>A (p.Glu285Lys) single nucleotide variant RASopathy [RCV001036065] Chr15:66485149 [GRCh38]
Chr15:66777487 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.896-283G>A single nucleotide variant not provided [RCV001563353] Chr15:66486945 [GRCh38]
Chr15:66779283 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.900C>T (p.Tyr300=) single nucleotide variant Cardiovascular phenotype [RCV002370259]|RASopathy [RCV002073141]|not provided [RCV001669385] Chr15:66487232 [GRCh38]
Chr15:66779570 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.80+54G>C single nucleotide variant not provided [RCV001658622] Chr15:66387481 [GRCh38]
Chr15:66679819 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.1134C>T (p.Thr378=) single nucleotide variant Cardiovascular phenotype [RCV003301916] Chr15:66490567 [GRCh38]
Chr15:66782905 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.80+87del deletion not provided [RCV001716814] Chr15:66387513 [GRCh38]
Chr15:66679851 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.439-67C>T single nucleotide variant not provided [RCV001608296] Chr15:66443213 [GRCh38]
Chr15:66735551 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.960+297A>G single nucleotide variant not provided [RCV001592618] Chr15:66487589 [GRCh38]
Chr15:66779927 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.516+28A>G single nucleotide variant not provided [RCV001717825] Chr15:66443385 [GRCh38]
Chr15:66735723 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.960+68C>T single nucleotide variant not provided [RCV001641216] Chr15:66487360 [GRCh38]
Chr15:66779698 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.80+28G>C single nucleotide variant not provided [RCV001686287] Chr15:66387455 [GRCh38]
Chr15:66679793 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.516+191G>A single nucleotide variant not provided [RCV001717985] Chr15:66443548 [GRCh38]
Chr15:66735886 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.80+195del deletion not provided [RCV001719478] Chr15:66387620 [GRCh38]
Chr15:66679958 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.1176C>T (p.Gly392=) single nucleotide variant Cardiovascular phenotype [RCV002327606]|RASopathy [RCV002069325]|not specified [RCV001251357] Chr15:66490609 [GRCh38]
Chr15:66782947 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.405C>T (p.Ser135=) single nucleotide variant Cardiovascular phenotype [RCV002320426]|RASopathy [RCV001501275]|not specified [RCV001194346] Chr15:66436859 [GRCh38]
Chr15:66729197 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.794_860dup (p.Pro287_Pro288insSerArgCysGlnGlyAlaGlyAlaAspValTrpValProGlyGlyArgArgCysGlyTer) duplication not specified [RCV001175081] Chr15:66485088..66485089 [GRCh38]
Chr15:66777426..66777427 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1069-16G>A single nucleotide variant RASopathy [RCV002068132]|not provided [RCV001683748]|not specified [RCV001175417] Chr15:66490486 [GRCh38]
Chr15:66782824 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.1068+19G>A single nucleotide variant RASopathy [RCV002068130]|not specified [RCV001174867] Chr15:66489782 [GRCh38]
Chr15:66782120 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_002755.4(MAP2K1):c.568+198C>T single nucleotide variant not provided [RCV001587527] Chr15:66444905 [GRCh38]
Chr15:66737243 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1069-144C>T single nucleotide variant not provided [RCV001651502] Chr15:66490358 [GRCh38]
Chr15:66782696 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.516+176A>G single nucleotide variant not provided [RCV001584668] Chr15:66443533 [GRCh38]
Chr15:66735871 [GRCh37]
Chr15:15q22.31		 likely benign
MAP2K1, 3-BP DEL, AAG, EX2 deletion Cardiofaciocutaneous syndrome 3 [RCV001078438] Chr15:15q22.31 pathogenic
NM_002755.4(MAP2K1):c.537T>C (p.Tyr179=) single nucleotide variant Cardiovascular phenotype [RCV003284381]|RASopathy [RCV002070416]|not provided [RCV001586236] Chr15:66444676 [GRCh38]
Chr15:66737014 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.205G>A (p.Glu69Lys) single nucleotide variant RASopathy [RCV001063772] Chr15:66435151 [GRCh38]
Chr15:66727489 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.308T>C (p.Ile103Thr) single nucleotide variant Noonan syndrome [RCV001261060] Chr15:66436762 [GRCh38]
Chr15:66729100 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.439-168G>A single nucleotide variant not provided [RCV001572419] Chr15:66443112 [GRCh38]
Chr15:66735450 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.608A>C (p.Glu203Ala) single nucleotide variant Noonan syndrome [RCV001261061]|RASopathy [RCV001349797] Chr15:66481794 [GRCh38]
Chr15:66774132 [GRCh37]
Chr15:15q22.31		 likely pathogenic|uncertain significance
NM_002755.4(MAP2K1):c.291+17T>C single nucleotide variant RASopathy [RCV002069393]|not specified [RCV001269222] Chr15:66435254 [GRCh38]
Chr15:66727592 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.529C>G (p.Leu177Val) single nucleotide variant Inborn genetic diseases [RCV001265988] Chr15:66444668 [GRCh38]
Chr15:66737006 [GRCh37]
Chr15:15q22.31		 uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_002755.4(MAP2K1):c.48C>A (p.Asp16Glu) single nucleotide variant RASopathy [RCV001302125] Chr15:66387395 [GRCh38]
Chr15:66679733 [GRCh37]
Chr15:15q22.31		 uncertain significance
NC_000015.9:g.(?_66679676)_(66782963_?)dup duplication RASopathy [RCV001295584] Chr15:66679676..66782963 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1115C>T (p.Ala372Val) single nucleotide variant RASopathy [RCV002034621]|not provided [RCV001786617] Chr15:66490548 [GRCh38]
Chr15:66782886 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.482T>C (p.Ile161Thr) single nucleotide variant RASopathy [RCV001371501] Chr15:66443323 [GRCh38]
Chr15:66735661 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.904A>C (p.Met302Leu) single nucleotide variant Cardiovascular phenotype [RCV004036159]|MAP2K1-related disorder [RCV004528454]|RASopathy [RCV001300024] Chr15:66487236 [GRCh38]
Chr15:66779574 [GRCh37]
Chr15:15q22.31		 uncertain significance
NC_000015.9:g.(?_66679666)_(66737065_?)dup duplication Rasopathy [RCV001322905] Chr15:66679666..66737065 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.427A>G (p.Met143Val) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV001293720]|Melorheostosis [RCV005012730]|RASopathy [RCV002538426] Chr15:66436881 [GRCh38]
Chr15:66729219 [GRCh37]
Chr15:15q22.31		 likely pathogenic|uncertain significance
NM_002755.4(MAP2K1):c.291+14_291+15inv inversion not specified [RCV001269223] Chr15:66435251..66435252 [GRCh38]
Chr15:66727589..66727590 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.516+1G>A single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV002254723]|RASopathy [RCV001361783]|not provided [RCV001586147] Chr15:66443358 [GRCh38]
Chr15:66735696 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.772G>A (p.Val258Ile) single nucleotide variant RASopathy [RCV001366153] Chr15:66485068 [GRCh38]
Chr15:66777406 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1047A>C (p.Arg349Ser) single nucleotide variant RASopathy [RCV001325515] Chr15:66489742 [GRCh38]
Chr15:66782080 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.291+19A>C single nucleotide variant RASopathy [RCV002069394]|not specified [RCV001269224] Chr15:66435256 [GRCh38]
Chr15:66727594 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.255C>T (p.Val85=) single nucleotide variant Cardiovascular phenotype [RCV002432194]|RASopathy [RCV001430502] Chr15:66435201 [GRCh38]
Chr15:66727539 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.879C>G (p.Pro293=) single nucleotide variant RASopathy [RCV001417099] Chr15:66485175 [GRCh38]
Chr15:66777513 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.645C>G (p.Leu215=) single nucleotide variant RASopathy [RCV005094718]|not specified [RCV001527037] Chr15:66481831 [GRCh38]
Chr15:66774169 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.961-10G>C single nucleotide variant Melorheostosis [RCV005005938]|RASopathy [RCV001475448] Chr15:66489205 [GRCh38]
Chr15:66781543 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.565A>C (p.Arg189=) single nucleotide variant Cardiovascular phenotype [RCV005369882]|RASopathy [RCV001452417] Chr15:66444704 [GRCh38]
Chr15:66737042 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.264G>A (p.Lys88=) single nucleotide variant Cardiovascular phenotype [RCV002456612]|RASopathy [RCV001393513]|not provided [RCV001692375]|not specified [RCV003399214] Chr15:66435210 [GRCh38]
Chr15:66727548 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.960+7dup duplication RASopathy [RCV001440671] Chr15:66487298..66487299 [GRCh38]
Chr15:66779636..66779637 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.279C>T (p.Val93=) single nucleotide variant Cardiovascular phenotype [RCV002438913]|RASopathy [RCV001399214] Chr15:66435225 [GRCh38]
Chr15:66727563 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1038C>T (p.Pro346=) single nucleotide variant Cardiovascular phenotype [RCV002395915]|RASopathy [RCV001405015] Chr15:66489733 [GRCh38]
Chr15:66782071 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.729G>A (p.Gln243=) single nucleotide variant Cardiovascular phenotype [RCV002384669]|MAP2K1-related disorder [RCV004734190]|RASopathy [RCV001439799]|not provided [RCV001685355] Chr15:66485025 [GRCh38]
Chr15:66777363 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.420T>C (p.Ser140=) single nucleotide variant RASopathy [RCV001441820] Chr15:66436874 [GRCh38]
Chr15:66729212 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.234T>C (p.Asn78=) single nucleotide variant RASopathy [RCV001445246] Chr15:66435180 [GRCh38]
Chr15:66727518 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.80+33C>T single nucleotide variant not provided [RCV001535274] Chr15:66387460 [GRCh38]
Chr15:66679798 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.693+234C>A single nucleotide variant not provided [RCV001587840] Chr15:66482113 [GRCh38]
Chr15:66774451 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.80+9G>A single nucleotide variant MAP2K1-related disorder [RCV004533800]|RASopathy [RCV001464341] Chr15:66387436 [GRCh38]
Chr15:66679774 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.586A>G (p.Ile196Val) single nucleotide variant not specified [RCV001526963] Chr15:66481772 [GRCh38]
Chr15:66774110 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.291+127_291+129dup duplication not provided [RCV001609056] Chr15:66435351..66435352 [GRCh38]
Chr15:66727689..66727690 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.516+283G>A single nucleotide variant not provided [RCV001591522] Chr15:66443640 [GRCh38]
Chr15:66735978 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.901G>A (p.Gly301Arg) single nucleotide variant RASopathy [RCV001866207]|not specified [RCV001582359] Chr15:66487233 [GRCh38]
Chr15:66779571 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.517-139G>T single nucleotide variant not provided [RCV001588113] Chr15:66444517 [GRCh38]
Chr15:66736855 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.895+42G>A single nucleotide variant not provided [RCV001592330] Chr15:66485233 [GRCh38]
Chr15:66777571 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.288A>G (p.Arg96=) single nucleotide variant RASopathy [RCV001406303] Chr15:66435234 [GRCh38]
Chr15:66727572 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.692C>T (p.Ser231Leu) single nucleotide variant not provided [RCV001755290] Chr15:66481878 [GRCh38]
Chr15:66774216 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.135G>T (p.Gln45His) single nucleotide variant not provided [RCV002259459] Chr15:66435081 [GRCh38]
Chr15:66727419 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.763G>A (p.Glu255Lys) single nucleotide variant not provided [RCV001755555] Chr15:66485059 [GRCh38]
Chr15:66777397 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.265C>A (p.Pro89Thr) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV001730035] Chr15:66435211 [GRCh38]
Chr15:66727549 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.739T>C (p.Trp247Arg) single nucleotide variant not provided [RCV001776905] Chr15:66485035 [GRCh38]
Chr15:66777373 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1069-142C>G single nucleotide variant not provided [RCV001753336] Chr15:66490360 [GRCh38]
Chr15:66782698 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.439-14A>G single nucleotide variant not specified [RCV001797901] Chr15:66443266 [GRCh38]
Chr15:66735604 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.490C>A (p.Gln164Lys) single nucleotide variant RASopathy [RCV003539408]|not provided [RCV001759318] Chr15:66443331 [GRCh38]
Chr15:66735669 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.607G>C (p.Glu203Gln) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV001795582] Chr15:66481793 [GRCh38]
Chr15:66774131 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_002755.4(MAP2K1):c.922A>T (p.Met308Leu) single nucleotide variant not provided [RCV001776816] Chr15:66487254 [GRCh38]
Chr15:66779592 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.-43C>T single nucleotide variant not provided [RCV001776983] Chr15:66387305 [GRCh38]
Chr15:66679643 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.628G>C (p.Gly210Arg) single nucleotide variant not provided [RCV001757514] Chr15:66481814 [GRCh38]
Chr15:66774152 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.694-5T>G single nucleotide variant RASopathy [RCV003539407]|not provided [RCV001757366] Chr15:66484985 [GRCh38]
Chr15:66777323 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.665C>A (p.Ser222Tyr) single nucleotide variant not provided [RCV001777022] Chr15:66481851 [GRCh38]
Chr15:66774189 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.517-9T>A single nucleotide variant RASopathy [RCV003539406]|not provided [RCV001755393] Chr15:66444647 [GRCh38]
Chr15:66736985 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.42C>G (p.Ala14=) single nucleotide variant not provided [RCV001758936] Chr15:66387389 [GRCh38]
Chr15:66679727 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.76G>A (p.Ala26Thr) single nucleotide variant not provided [RCV001759248] Chr15:66387423 [GRCh38]
Chr15:66679761 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1138G>A (p.Gly380Ser) single nucleotide variant Melorheostosis [RCV005397026]|Noonan syndrome and Noonan-related syndrome [RCV001813670]|RASopathy [RCV001869616] Chr15:66490571 [GRCh38]
Chr15:66782909 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.366C>T (p.Asn122=) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813666]|RASopathy [RCV002542452] Chr15:66436820 [GRCh38]
Chr15:66729158 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.198C>T (p.Asp66=) single nucleotide variant Cardiovascular phenotype [RCV002422868]|Noonan syndrome and Noonan-related syndrome [RCV001813665]|RASopathy [RCV002074233] Chr15:66435144 [GRCh38]
Chr15:66727482 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.481A>G (p.Ile161Val) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813667] Chr15:66443322 [GRCh38]
Chr15:66735660 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.292-8T>A single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813620]|RASopathy [RCV002077266] Chr15:66436738 [GRCh38]
Chr15:66729076 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1023-4T>G single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813668] Chr15:66489714 [GRCh38]
Chr15:66782052 [GRCh37]
Chr15:15q22.31		 uncertain significance
NC_000015.9:g.(?_66161924)_(69018313_?)dup duplication Neuronal ceroid lipofuscinosis [RCV003120802]|not provided [RCV002045713] Chr15:66161924..69018313 [GRCh37]
Chr15:15q22.31-23		 uncertain significance|no classifications from unflagged records
NM_002755.4(MAP2K1):c.212T>C (p.Ile71Thr) single nucleotide variant RASopathy [RCV001986998] Chr15:66435158 [GRCh38]
Chr15:66727496 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.612C>G (p.Ile204Met) single nucleotide variant RASopathy [RCV001970952] Chr15:66481798 [GRCh38]
Chr15:66774136 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.130_162del (p.Glu44_Leu54del) deletion RASopathy [RCV001949997] Chr15:66435075..66435107 [GRCh38]
Chr15:66727413..66727445 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.198C>A (p.Asp66Glu) single nucleotide variant RASopathy [RCV002022408] Chr15:66435144 [GRCh38]
Chr15:66727482 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.961-2A>G single nucleotide variant RASopathy [RCV002006555] Chr15:66489213 [GRCh38]
Chr15:66781551 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.492A>G (p.Gln164=) single nucleotide variant Cardiovascular phenotype [RCV002334861]|RASopathy [RCV001909457] Chr15:66443333 [GRCh38]
Chr15:66735671 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.1004A>G (p.Gln335Arg) single nucleotide variant RASopathy [RCV001968330] Chr15:66489258 [GRCh38]
Chr15:66781596 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.15G>A (p.Lys5=) single nucleotide variant RASopathy [RCV002543315]|not specified [RCV001844577] Chr15:66387362 [GRCh38]
Chr15:66679700 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.421A>G (p.Ile141Val) single nucleotide variant RASopathy [RCV001893565] Chr15:66436875 [GRCh38]
Chr15:66729213 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.895+12G>A single nucleotide variant RASopathy [RCV001927964] Chr15:66485203 [GRCh38]
Chr15:66777541 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.379G>A (p.Val127Met) single nucleotide variant RASopathy [RCV001923983] Chr15:66436833 [GRCh38]
Chr15:66729171 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.770C>T (p.Ala257Val) single nucleotide variant RASopathy [RCV001956009] Chr15:66485066 [GRCh38]
Chr15:66777404 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.238G>A (p.Gly80Ser) single nucleotide variant RASopathy [RCV001978742] Chr15:66435184 [GRCh38]
Chr15:66727522 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.995T>A (p.Leu332Gln) single nucleotide variant RASopathy [RCV002026384] Chr15:66489249 [GRCh38]
Chr15:66781587 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.212T>G (p.Ile71Ser) single nucleotide variant RASopathy [RCV001901253] Chr15:66435158 [GRCh38]
Chr15:66727496 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.894C>T (p.Ser298=) single nucleotide variant RASopathy [RCV001974344] Chr15:66485190 [GRCh38]
Chr15:66777528 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1034A>G (p.Asn345Ser) single nucleotide variant RASopathy [RCV001982046] Chr15:66489729 [GRCh38]
Chr15:66782067 [GRCh37]
Chr15:15q22.31		 uncertain significance
NC_000015.9:g.(?_66774083)_(66782963_?)dup duplication RASopathy [RCV001940146] Chr15:66774083..66782963 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.896-3T>C single nucleotide variant RASopathy [RCV001905237] Chr15:66487225 [GRCh38]
Chr15:66779563 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.161T>C (p.Leu54Pro) single nucleotide variant RASopathy [RCV002036005] Chr15:66435107 [GRCh38]
Chr15:66727445 [GRCh37]
Chr15:15q22.31		 pathogenic|uncertain significance
NM_002755.4(MAP2K1):c.43C>T (p.Pro15Ser) single nucleotide variant RASopathy [RCV002026456] Chr15:66387390 [GRCh38]
Chr15:66679728 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.585C>T (p.Asn195=) single nucleotide variant RASopathy [RCV002088837] Chr15:66481771 [GRCh38]
Chr15:66774109 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.694-9C>T single nucleotide variant RASopathy [RCV002208408] Chr15:66484981 [GRCh38]
Chr15:66777319 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.652T>C (p.Ser218Pro) single nucleotide variant not provided [RCV002224232] Chr15:66481838 [GRCh38]
Chr15:66774176 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1146C>T (p.Asn382=) single nucleotide variant RASopathy [RCV002171416] Chr15:66490579 [GRCh38]
Chr15:66782917 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.896-5del deletion RASopathy [RCV002209414] Chr15:66487221 [GRCh38]
Chr15:66779559 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1022+16G>A single nucleotide variant RASopathy [RCV002112494] Chr15:66489292 [GRCh38]
Chr15:66781630 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.569-4G>A single nucleotide variant RASopathy [RCV002074815] Chr15:66481751 [GRCh38]
Chr15:66774089 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.694-20del deletion RASopathy [RCV002071437] Chr15:66484970 [GRCh38]
Chr15:66777308 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1068+13_1068+15del deletion RASopathy [RCV002116743] Chr15:66489774..66489776 [GRCh38]
Chr15:66782112..66782114 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.693+20T>C single nucleotide variant Melorheostosis [RCV002500239]|RASopathy [RCV002124470] Chr15:66481899 [GRCh38]
Chr15:66774237 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.961-18C>T single nucleotide variant RASopathy [RCV002075118] Chr15:66489197 [GRCh38]
Chr15:66781535 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1069-17C>T single nucleotide variant RASopathy [RCV002078389] Chr15:66490485 [GRCh38]
Chr15:66782823 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.438+15C>T single nucleotide variant RASopathy [RCV002130382] Chr15:66436907 [GRCh38]
Chr15:66729245 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.516+16A>G single nucleotide variant RASopathy [RCV002079606] Chr15:66443373 [GRCh38]
Chr15:66735711 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.681G>T (p.Arg227Ser) single nucleotide variant not provided [RCV002224520] Chr15:66481867 [GRCh38]
Chr15:66774205 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1068+17C>T single nucleotide variant RASopathy [RCV002152972] Chr15:66489780 [GRCh38]
Chr15:66782118 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.291+14G>T single nucleotide variant RASopathy [RCV002112980] Chr15:66435251 [GRCh38]
Chr15:66727589 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.147C>A (p.Arg49=) single nucleotide variant RASopathy [RCV002130547] Chr15:66435093 [GRCh38]
Chr15:66727431 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.569-18A>G single nucleotide variant RASopathy [RCV002149299] Chr15:66481737 [GRCh38]
Chr15:66774075 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.319A>G (p.Ile107Val) single nucleotide variant Cardiovascular phenotype [RCV004996050]|RASopathy [RCV001944933] Chr15:66436773 [GRCh38]
Chr15:66729111 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1022+12C>T single nucleotide variant RASopathy [RCV002075444] Chr15:66489288 [GRCh38]
Chr15:66781626 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.568+9T>A single nucleotide variant RASopathy [RCV002194355] Chr15:66444716 [GRCh38]
Chr15:66737054 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1140C>T (p.Gly380=) single nucleotide variant Cardiovascular phenotype [RCV003355814]|RASopathy [RCV002110450] Chr15:66490573 [GRCh38]
Chr15:66782911 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.81-20T>G single nucleotide variant RASopathy [RCV002109923] Chr15:66435007 [GRCh38]
Chr15:66727345 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.291+20C>T single nucleotide variant RASopathy [RCV002211746] Chr15:66435257 [GRCh38]
Chr15:66727595 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.569-11C>T single nucleotide variant RASopathy [RCV002094382] Chr15:66481744 [GRCh38]
Chr15:66774082 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.516+17G>A single nucleotide variant RASopathy [RCV002199088] Chr15:66443374 [GRCh38]
Chr15:66735712 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.439-7A>T single nucleotide variant RASopathy [RCV002082893] Chr15:66443273 [GRCh38]
Chr15:66735611 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.960+14G>A single nucleotide variant RASopathy [RCV002103612] Chr15:66487306 [GRCh38]
Chr15:66779644 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.372G>A (p.Pro124=) single nucleotide variant Cardiovascular phenotype [RCV002346359]|RASopathy [RCV002177638] Chr15:66436826 [GRCh38]
Chr15:66729164 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.549G>A (p.Lys183=) single nucleotide variant RASopathy [RCV002101043]|not specified [RCV004782879] Chr15:66444688 [GRCh38]
Chr15:66737026 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.612C>A (p.Ile204=) single nucleotide variant not specified [RCV002222876] Chr15:66481798 [GRCh38]
Chr15:66774136 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.630G>A (p.Gly210=) single nucleotide variant Cardiovascular phenotype [RCV002361459]|RASopathy [RCV002216416] Chr15:66481816 [GRCh38]
Chr15:66774154 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.291+15A>C single nucleotide variant RASopathy [RCV002181127]|not specified [RCV004700678] Chr15:66435252 [GRCh38]
Chr15:66727590 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.255C>A (p.Val85=) single nucleotide variant RASopathy [RCV002176628] Chr15:66435201 [GRCh38]
Chr15:66727539 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.439-16G>T single nucleotide variant not specified [RCV004782186] Chr15:66443264 [GRCh38]
Chr15:66735602 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.77C>T (p.Ala26Val) single nucleotide variant RASopathy [RCV003115366] Chr15:66387424 [GRCh38]
Chr15:66679762 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.291+14_291+16del deletion RASopathy [RCV003115456] Chr15:66435250..66435252 [GRCh38]
Chr15:66727588..66727590 [GRCh37]
Chr15:15q22.31		 likely benign
NC_000015.9:g.(?_66679686)_(66679785_?)dup duplication RASopathy [RCV003122614] Chr15:66679686..66679785 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.608A>T (p.Glu203Val) single nucleotide variant not provided [RCV004784483] Chr15:66481794 [GRCh38]
Chr15:66774132 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_002755.4(MAP2K1):c.215G>A (p.Ser72Asn) single nucleotide variant RASopathy [RCV003118420] Chr15:66435161 [GRCh38]
Chr15:66727499 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.139C>T (p.Arg47Ter) single nucleotide variant RASopathy [RCV003539469]|not provided [RCV003129461] Chr15:66435085 [GRCh38]
Chr15:66727423 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.303_308del (p.Glu102_Ile103del) deletion not provided [RCV002254483] Chr15:66436756..66436761 [GRCh38]
Chr15:66729094..66729099 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_002755.4(MAP2K1):c.37C>T (p.Pro13Ser) single nucleotide variant RASopathy [RCV005100923]|not provided [RCV003154131] Chr15:66387384 [GRCh38]
Chr15:66679722 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.173_187del (p.Gln58_Glu62del) deletion Parkes Weber syndrome [RCV002254481]|Vascular malformation [RCV003458851] Chr15:66435118..66435132 [GRCh38]
Chr15:66727456..66727470 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_002755.4(MAP2K1):c.435C>T (p.His145=) single nucleotide variant not provided [RCV002254482] Chr15:66436889 [GRCh38]
Chr15:66729227 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1003C>T (p.Gln335Ter) single nucleotide variant not provided [RCV003231706] Chr15:66489257 [GRCh38]
Chr15:66781595 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.170A>T (p.Lys57Met) single nucleotide variant not provided [RCV002290946] Chr15:66435116 [GRCh38]
Chr15:66727454 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_002755.4(MAP2K1):c.370C>G (p.Pro124Ala) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV002267695] Chr15:66436824 [GRCh38]
Chr15:66729162 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.438+1_438+5del deletion not provided [RCV002281357] Chr15:66436890..66436894 [GRCh38]
Chr15:66729228..66729232 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.920C>T (p.Pro307Leu) single nucleotide variant not provided [RCV002274772] Chr15:66487252 [GRCh38]
Chr15:66779590 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1119T>C (p.Gly373=) single nucleotide variant Cardiovascular phenotype [RCV002437755] Chr15:66490552 [GRCh38]
Chr15:66782890 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1024T>G (p.Leu342Val) single nucleotide variant not provided [RCV002285996] Chr15:66489719 [GRCh38]
Chr15:66782057 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.969A>C (p.Pro323=) single nucleotide variant Cardiovascular phenotype [RCV002386999] Chr15:66489223 [GRCh38]
Chr15:66781561 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.969A>G (p.Pro323=) single nucleotide variant Cardiovascular phenotype [RCV002387004] Chr15:66489223 [GRCh38]
Chr15:66781561 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.987G>T (p.Val329=) single nucleotide variant Cardiovascular phenotype [RCV002387388]|RASopathy [RCV003539440] Chr15:66489241 [GRCh38]
Chr15:66781579 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.801T>A (p.Asp267Glu) single nucleotide variant Cardiovascular phenotype [RCV002412403]|Melorheostosis [RCV005008563] Chr15:66485097 [GRCh38]
Chr15:66777435 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.849G>A (p.Ala283=) single nucleotide variant Cardiovascular phenotype [RCV002447690]|RASopathy [RCV005058543] Chr15:66485145 [GRCh38]
Chr15:66777483 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.573C>G (p.Val191=) single nucleotide variant Cardiovascular phenotype [RCV002347767] Chr15:66481759 [GRCh38]
Chr15:66774097 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.280A>G (p.Met94Val) single nucleotide variant Cardiovascular phenotype [RCV002441675]|RASopathy [RCV003655397] Chr15:66435226 [GRCh38]
Chr15:66727564 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.256T>A (p.Ser86Thr) single nucleotide variant RASopathy [RCV002301925] Chr15:66435202 [GRCh38]
Chr15:66727540 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.840A>G (p.Glu280=) single nucleotide variant Cardiovascular phenotype [RCV002445850]|RASopathy [RCV003103502] Chr15:66485136 [GRCh38]
Chr15:66777474 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1056G>A (p.Leu352=) single nucleotide variant Cardiovascular phenotype [RCV002398966]|RASopathy [RCV005097702] Chr15:66489751 [GRCh38]
Chr15:66782089 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.125T>G (p.Leu42Arg) single nucleotide variant not provided [RCV002308925] Chr15:66435071 [GRCh38]
Chr15:66727409 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.909C>T (p.Asp303=) single nucleotide variant Cardiovascular phenotype [RCV002378606] Chr15:66487241 [GRCh38]
Chr15:66779579 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.753G>A (p.Leu251=) single nucleotide variant Cardiovascular phenotype [RCV002393935] Chr15:66485049 [GRCh38]
Chr15:66777387 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.45C>T (p.Pro15=) single nucleotide variant Cardiovascular phenotype [RCV002342357] Chr15:66387392 [GRCh38]
Chr15:66679730 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.967C>T (p.Pro323Ser) single nucleotide variant Cardiovascular phenotype [RCV002376554] Chr15:66489221 [GRCh38]
Chr15:66781559 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.43C>G (p.Pro15Ala) single nucleotide variant Cardiovascular phenotype [RCV002333721]|RASopathy [RCV003539421] Chr15:66387390 [GRCh38]
Chr15:66679728 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.877C>G (p.Pro293Ala) single nucleotide variant Cardiovascular phenotype [RCV002373647] Chr15:66485173 [GRCh38]
Chr15:66777511 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.95C>T (p.Ala32Val) single nucleotide variant Cardiovascular phenotype [RCV002374353]|not provided [RCV003738232] Chr15:66435041 [GRCh38]
Chr15:66727379 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.950T>C (p.Ile317Thr) single nucleotide variant Cardiovascular phenotype [RCV002374186]|RASopathy [RCV005097349] Chr15:66487282 [GRCh38]
Chr15:66779620 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.895+15G>A single nucleotide variant RASopathy [RCV002617294] Chr15:66485206 [GRCh38]
Chr15:66777544 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.411C>G (p.Gly137=) single nucleotide variant RASopathy [RCV003074756] Chr15:66436865 [GRCh38]
Chr15:66729203 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1022+6T>G single nucleotide variant Melorheostosis [RCV005002885]|RASopathy [RCV002776343] Chr15:66489282 [GRCh38]
Chr15:66781620 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.33G>A (p.Leu11=) single nucleotide variant RASopathy [RCV003075966] Chr15:66387380 [GRCh38]
Chr15:66679718 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.86A>G (p.Asn29Ser) single nucleotide variant RASopathy [RCV002909028] Chr15:66435032 [GRCh38]
Chr15:66727370 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1143T>A (p.Leu381=) single nucleotide variant RASopathy [RCV002775152] Chr15:66490576 [GRCh38]
Chr15:66782914 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1023-11_1023-4del deletion RASopathy [RCV002975212] Chr15:66489703..66489710 [GRCh38]
Chr15:66782041..66782048 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.633C>G (p.Val211=) single nucleotide variant RASopathy [RCV002947520] Chr15:66481819 [GRCh38]
Chr15:66774157 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.265C>T (p.Pro89Ser) single nucleotide variant RASopathy [RCV002681188] Chr15:66435211 [GRCh38]
Chr15:66727549 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.730T>A (p.Ser244Thr) single nucleotide variant not provided [RCV002511371] Chr15:66485026 [GRCh38]
Chr15:66777364 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.895+19C>A single nucleotide variant RASopathy [RCV002771573] Chr15:66485210 [GRCh38]
Chr15:66777548 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.365A>G (p.Asn122Ser) single nucleotide variant RASopathy [RCV002816013] Chr15:66436819 [GRCh38]
Chr15:66729157 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1008T>G (p.Asp336Glu) single nucleotide variant RASopathy [RCV002995493] Chr15:66489262 [GRCh38]
Chr15:66781600 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.842_844del (p.Gly281del) deletion Cardiovascular phenotype [RCV004070580]|RASopathy [RCV002628390] Chr15:66485136..66485138 [GRCh38]
Chr15:66777474..66777476 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1146C>A (p.Asn382Lys) single nucleotide variant Cardiovascular phenotype [RCV004164178] Chr15:66490579 [GRCh38]
Chr15:66782917 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.896-6T>C single nucleotide variant RASopathy [RCV002996812] Chr15:66487222 [GRCh38]
Chr15:66779560 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.800A>T (p.Asp267Val) single nucleotide variant RASopathy [RCV002910125] Chr15:66485096 [GRCh38]
Chr15:66777434 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.292-18T>C single nucleotide variant RASopathy [RCV003021844] Chr15:66436728 [GRCh38]
Chr15:66729066 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.516+12A>T single nucleotide variant RASopathy [RCV002571922] Chr15:66443369 [GRCh38]
Chr15:66735707 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1110T>C (p.Asp370=) single nucleotide variant RASopathy [RCV002740085] Chr15:66490543 [GRCh38]
Chr15:66782881 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.383del (p.Gly128fs) deletion RASopathy [RCV002909441] Chr15:66436835 [GRCh38]
Chr15:66729173 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.99G>A (p.Leu33=) single nucleotide variant RASopathy [RCV002912454] Chr15:66435045 [GRCh38]
Chr15:66727383 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.961-8G>T single nucleotide variant RASopathy [RCV002823688] Chr15:66489207 [GRCh38]
Chr15:66781545 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.146G>A (p.Arg49His) single nucleotide variant RASopathy [RCV002619865] Chr15:66435092 [GRCh38]
Chr15:66727430 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.551A>T (p.His184Leu) single nucleotide variant RASopathy [RCV003038916] Chr15:66444690 [GRCh38]
Chr15:66737028 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1035C>T (p.Asn345=) single nucleotide variant RASopathy [RCV003077785] Chr15:66489730 [GRCh38]
Chr15:66782068 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.960+5G>A single nucleotide variant RASopathy [RCV002847990] Chr15:66487297 [GRCh38]
Chr15:66779635 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.5C>G (p.Pro2Arg) single nucleotide variant RASopathy [RCV002796542] Chr15:66387352 [GRCh38]
Chr15:66679690 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.930T>G (p.Ile310Met) single nucleotide variant Cardiovascular phenotype [RCV004125504] Chr15:66487262 [GRCh38]
Chr15:66779600 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.694-11C>T single nucleotide variant RASopathy [RCV003025704] Chr15:66484979 [GRCh38]
Chr15:66777317 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.589C>T (p.Leu197=) single nucleotide variant RASopathy [RCV003084989] Chr15:66481775 [GRCh38]
Chr15:66774113 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.602G>A (p.Arg201His) single nucleotide variant not provided [RCV002508682] Chr15:66481788 [GRCh38]
Chr15:66774126 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.80+18_80+19del deletion RASopathy [RCV002594530] Chr15:66387445..66387446 [GRCh38]
Chr15:66679783..66679784 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.333C>T (p.Ile111=) single nucleotide variant RASopathy [RCV003057017] Chr15:66436787 [GRCh38]
Chr15:66729125 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1069-11C>A single nucleotide variant RASopathy [RCV002741948] Chr15:66490491 [GRCh38]
Chr15:66782829 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.439-8G>C single nucleotide variant RASopathy [RCV002624521] Chr15:66443272 [GRCh38]
Chr15:66735610 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.528C>G (p.Gly176=) single nucleotide variant RASopathy [RCV003056964] Chr15:66444667 [GRCh38]
Chr15:66737005 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.81-13C>T single nucleotide variant RASopathy [RCV002664130] Chr15:66435014 [GRCh38]
Chr15:66727352 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.439-9C>T single nucleotide variant RASopathy [RCV002766045] Chr15:66443271 [GRCh38]
Chr15:66735609 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.305A>T (p.Glu102Val) single nucleotide variant RASopathy [RCV002790723] Chr15:66436759 [GRCh38]
Chr15:66729097 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.553A>G (p.Lys185Glu) single nucleotide variant RASopathy [RCV002766775] Chr15:66444692 [GRCh38]
Chr15:66737030 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.949A>G (p.Ile317Val) single nucleotide variant Cardiovascular phenotype [RCV004125506] Chr15:66487281 [GRCh38]
Chr15:66779619 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1086G>A (p.Lys362=) single nucleotide variant RASopathy [RCV003064015] Chr15:66490519 [GRCh38]
Chr15:66782857 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.516+13T>C single nucleotide variant RASopathy [RCV003089323] Chr15:66443370 [GRCh38]
Chr15:66735708 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.80+16G>C single nucleotide variant RASopathy [RCV002857812] Chr15:66387443 [GRCh38]
Chr15:66679781 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1030A>C (p.Lys344Gln) single nucleotide variant Melorheostosis [RCV005011081]|RASopathy [RCV002629467] Chr15:66489725 [GRCh38]
Chr15:66782063 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.517-13C>G single nucleotide variant RASopathy [RCV002963352] Chr15:66444643 [GRCh38]
Chr15:66736981 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.153G>A (p.Glu51=) single nucleotide variant RASopathy [RCV002806955] Chr15:66435099 [GRCh38]
Chr15:66727437 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.895+13G>A single nucleotide variant RASopathy [RCV002900266] Chr15:66485204 [GRCh38]
Chr15:66777542 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.693+10G>C single nucleotide variant RASopathy [RCV003029116] Chr15:66481889 [GRCh38]
Chr15:66774227 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.772G>T (p.Val258Phe) single nucleotide variant RASopathy [RCV002671838] Chr15:66485068 [GRCh38]
Chr15:66777406 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.724G>A (p.Val242Met) single nucleotide variant RASopathy [RCV002629277] Chr15:66485020 [GRCh38]
Chr15:66777358 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.836T>C (p.Val279Ala) single nucleotide variant RASopathy [RCV003060069] Chr15:66485132 [GRCh38]
Chr15:66777470 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.961-8_961-7del microsatellite RASopathy [RCV002899209] Chr15:66489204..66489205 [GRCh38]
Chr15:66781542..66781543 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.516+9G>C single nucleotide variant RASopathy [RCV002630270] Chr15:66443366 [GRCh38]
Chr15:66735704 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.868C>A (p.Pro290Thr) single nucleotide variant RASopathy [RCV003011256] Chr15:66485164 [GRCh38]
Chr15:66777502 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.438+4T>A single nucleotide variant RASopathy [RCV003086356] Chr15:66436896 [GRCh38]
Chr15:66729234 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1031_1034del (p.Lys344fs) deletion RASopathy [RCV002599519] Chr15:66489724..66489727 [GRCh38]
Chr15:66782062..66782065 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.694-19C>T single nucleotide variant RASopathy [RCV002921987] Chr15:66484971 [GRCh38]
Chr15:66777309 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.885G>T (p.Arg295Ser) single nucleotide variant RASopathy [RCV002583494] Chr15:66485181 [GRCh38]
Chr15:66777519 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.693+4T>C single nucleotide variant RASopathy [RCV003066706] Chr15:66481883 [GRCh38]
Chr15:66774221 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.596A>G (p.Asn199Ser) single nucleotide variant Cardiovascular phenotype [RCV005375114]|RASopathy [RCV002634525] Chr15:66481782 [GRCh38]
Chr15:66774120 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.6C>G (p.Pro2=) single nucleotide variant Cardiovascular phenotype [RCV004065808]|RASopathy [RCV002609166] Chr15:66387353 [GRCh38]
Chr15:66679691 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.488A>G (p.Glu163Gly) single nucleotide variant not provided [RCV003129039] Chr15:66443329 [GRCh38]
Chr15:66735667 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.940T>C (p.Leu314=) single nucleotide variant RASopathy [RCV002609663] Chr15:66487272 [GRCh38]
Chr15:66779610 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.709G>A (p.Gly237Arg) single nucleotide variant RASopathy [RCV003072277]|not provided [RCV003313303] Chr15:66485005 [GRCh38]
Chr15:66777343 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.906G>T (p.Met302Ile) single nucleotide variant RASopathy [RCV003068981] Chr15:66487238 [GRCh38]
Chr15:66779576 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1081_1084delinsG (p.Ile361_Lys362delinsGlu) indel not provided [RCV003228318] Chr15:66490514..66490517 [GRCh38]
Chr15:66782852..66782855 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.991A>G (p.Ser331Gly) single nucleotide variant not provided [RCV003229448] Chr15:66489245 [GRCh38]
Chr15:66781583 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.984A>T (p.Gly328=) single nucleotide variant Cardiovascular phenotype [RCV003177267] Chr15:66489238 [GRCh38]
Chr15:66781576 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.978C>A (p.Pro326=) single nucleotide variant Cardiovascular phenotype [RCV003177268] Chr15:66489232 [GRCh38]
Chr15:66781570 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.976_980del (p.Pro326fs) deletion not provided [RCV005368187] Chr15:66489229..66489233 [GRCh38]
Chr15:66781567..66781571 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.568+4A>G single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV003325280] Chr15:66444711 [GRCh38]
Chr15:66737049 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.754T>G (p.Ser252Ala) single nucleotide variant RASopathy [RCV003539486]|not provided [RCV003321257] Chr15:66485050 [GRCh38]
Chr15:66777388 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.81-13del deletion RASopathy [RCV003872662] Chr15:66435011 [GRCh38]
Chr15:66727349 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.165_179del (p.Gln56_Val60del) deletion Vascular malformation [RCV003458961] Chr15:66435111..66435125 [GRCh38]
Chr15:66727449..66727463 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.306_311del (p.Ile103_Lys104del) deletion Vascular malformation [RCV003458964]|not provided [RCV004719331] Chr15:66436759..66436764 [GRCh38]
Chr15:66729097..66729102 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_002755.4(MAP2K1):c.1157C>T (p.Thr386Ile) single nucleotide variant RASopathy [RCV003654588] Chr15:66490590 [GRCh38]
Chr15:66782928 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1153A>G (p.Ser385Gly) single nucleotide variant RASopathy [RCV003654614] Chr15:66490586 [GRCh38]
Chr15:66782924 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1069-3C>T single nucleotide variant RASopathy [RCV003655471] Chr15:66490499 [GRCh38]
Chr15:66782837 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1053T>A (p.Asp351Glu) single nucleotide variant RASopathy [RCV003655874] Chr15:66489748 [GRCh38]
Chr15:66782086 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1069-7del deletion RASopathy [RCV003655726] Chr15:66490495 [GRCh38]
Chr15:66782833 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1069-8A>T single nucleotide variant RASopathy [RCV003655552] Chr15:66490494 [GRCh38]
Chr15:66782832 [GRCh37]
Chr15:15q22.31		 likely benign
NC_000015.10:g.66386730G>A single nucleotide variant not provided [RCV003390524] Chr15:66386730 [GRCh38]
Chr15:66679068 [GRCh37]
Chr15:15q22.31		 benign
NC_000015.10:g.66386775C>T single nucleotide variant not provided [RCV003394942] Chr15:66386775 [GRCh38]
Chr15:66679113 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1140C>A (p.Gly380=) single nucleotide variant RASopathy [RCV003655968] Chr15:66490573 [GRCh38]
Chr15:66782911 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1101G>A (p.Glu367=) single nucleotide variant RASopathy [RCV003654631] Chr15:66490534 [GRCh38]
Chr15:66782872 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1107G>A (p.Val369=) single nucleotide variant RASopathy [RCV003654640] Chr15:66490540 [GRCh38]
Chr15:66782878 [GRCh37]
Chr15:15q22.31		 likely benign
GRCh37/hg19 15q22.31(chr15:66349832-66790693)x3 copy number gain not provided [RCV003485069] Chr15:66349832..66790693 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.9G>A (p.Lys3=) single nucleotide variant RASopathy [RCV003778392]|not provided [RCV003394943] Chr15:66387356 [GRCh38]
Chr15:66679694 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.187C>T (p.Leu63=) single nucleotide variant not provided [RCV003394944] Chr15:66435133 [GRCh38]
Chr15:66727471 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.928A>G (p.Ile310Val) single nucleotide variant RASopathy [RCV003655427]|not provided [RCV003394945] Chr15:66487260 [GRCh38]
Chr15:66779598 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1023-4T>A single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV003457221]|RASopathy [RCV003655429] Chr15:66489714 [GRCh38]
Chr15:66782052 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.15G>T (p.Lys5Asn) single nucleotide variant MAP2K1-related disorder [RCV004531552] Chr15:66387362 [GRCh38]
Chr15:66679700 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.568+14001A>G single nucleotide variant not provided [RCV003390525] Chr15:66458708 [GRCh38]
Chr15:66751046 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.672G>A (p.Val224=) single nucleotide variant MAP2K1-related disorder [RCV004534298]|RASopathy [RCV005099956] Chr15:66481858 [GRCh38]
Chr15:66774196 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.*63C>T single nucleotide variant not provided [RCV003390526] Chr15:66490678 [GRCh38]
Chr15:66783016 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.451C>T (p.Leu151=) single nucleotide variant RASopathy [RCV003654492] Chr15:66443292 [GRCh38]
Chr15:66735630 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.895+19C>T single nucleotide variant RASopathy [RCV003654466] Chr15:66485210 [GRCh38]
Chr15:66777548 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.516+11del deletion RASopathy [RCV003654475] Chr15:66443367 [GRCh38]
Chr15:66735705 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.961-19T>C single nucleotide variant RASopathy [RCV003826632] Chr15:66489196 [GRCh38]
Chr15:66781534 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1125C>G (p.Leu375=) single nucleotide variant Cardiovascular phenotype [RCV004636757]|RASopathy [RCV003539608] Chr15:66490558 [GRCh38]
Chr15:66782896 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1069-6A>G single nucleotide variant RASopathy [RCV003829140] Chr15:66490496 [GRCh38]
Chr15:66782834 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1054T>G (p.Leu352Val) single nucleotide variant RASopathy [RCV003540444] Chr15:66489749 [GRCh38]
Chr15:66782087 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.291+14_291+19delinsTCTCAC indel not specified [RCV003489704] Chr15:66435251..66435256 [GRCh38]
Chr15:66727589..66727594 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1116A>T (p.Ala372=) single nucleotide variant RASopathy [RCV003540375] Chr15:66490549 [GRCh38]
Chr15:66782887 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.694-16T>C single nucleotide variant RASopathy [RCV003655867] Chr15:66484974 [GRCh38]
Chr15:66777312 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.899A>G (p.Tyr300Cys) single nucleotide variant RASopathy [RCV003655917] Chr15:66487231 [GRCh38]
Chr15:66779569 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.692C>G (p.Ser231Trp) single nucleotide variant RASopathy [RCV003655951] Chr15:66481878 [GRCh38]
Chr15:66774216 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.693+11A>G single nucleotide variant RASopathy [RCV003656004] Chr15:66481890 [GRCh38]
Chr15:66774228 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.569-49_569-6del deletion RASopathy [RCV003656014] Chr15:66481696..66481739 [GRCh38]
Chr15:66774034..66774077 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.80+6T>C single nucleotide variant RASopathy [RCV003656042] Chr15:66387433 [GRCh38]
Chr15:66679771 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.960+1G>T single nucleotide variant RASopathy [RCV003654563] Chr15:66487293 [GRCh38]
Chr15:66779631 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.87C>T (p.Asn29=) single nucleotide variant RASopathy [RCV003654566] Chr15:66435033 [GRCh38]
Chr15:66727371 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1113T>G (p.Phe371Leu) single nucleotide variant RASopathy [RCV003851455] Chr15:66490546 [GRCh38]
Chr15:66782884 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.63C>T (p.Asn21=) single nucleotide variant RASopathy [RCV003654542] Chr15:66387410 [GRCh38]
Chr15:66679748 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.396G>C (p.Ala132=) single nucleotide variant RASopathy [RCV003654736] Chr15:66436850 [GRCh38]
Chr15:66729188 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.647T>C (p.Ile216Thr) single nucleotide variant RASopathy [RCV003654724] Chr15:66481833 [GRCh38]
Chr15:66774171 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.564C>T (p.His188=) single nucleotide variant RASopathy [RCV003654835] Chr15:66444703 [GRCh38]
Chr15:66737041 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1023-17G>A single nucleotide variant RASopathy [RCV005170515] Chr15:66489701 [GRCh38]
Chr15:66782039 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.606G>A (p.Gly202=) single nucleotide variant RASopathy [RCV003833274] Chr15:66481792 [GRCh38]
Chr15:66774130 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.517-16A>T single nucleotide variant RASopathy [RCV003655602] Chr15:66444640 [GRCh38]
Chr15:66736978 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.961-6T>C single nucleotide variant RASopathy [RCV003655508] Chr15:66489209 [GRCh38]
Chr15:66781547 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.460G>A (p.Val154Ile) single nucleotide variant RASopathy [RCV003655528] Chr15:66443301 [GRCh38]
Chr15:66735639 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.292-20T>C single nucleotide variant RASopathy [RCV003655647] Chr15:66436726 [GRCh38]
Chr15:66729064 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.509G>A (p.Ser170Asn) single nucleotide variant RASopathy [RCV003655657] Chr15:66443350 [GRCh38]
Chr15:66735688 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.517-10T>C single nucleotide variant RASopathy [RCV003655871] Chr15:66444646 [GRCh38]
Chr15:66736984 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.80+2T>C single nucleotide variant RASopathy [RCV003539633] Chr15:66387429 [GRCh38]
Chr15:66679767 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.529C>A (p.Leu177Met) single nucleotide variant RASopathy [RCV003539543] Chr15:66444668 [GRCh38]
Chr15:66737006 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.69C>A (p.Thr23=) single nucleotide variant RASopathy [RCV003836568] Chr15:66387416 [GRCh38]
Chr15:66679754 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.173A>G (p.Gln58Arg) single nucleotide variant RASopathy [RCV003654555] Chr15:66435119 [GRCh38]
Chr15:66727457 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.666C>T (p.Ser222=) single nucleotide variant RASopathy [RCV003654643] Chr15:66481852 [GRCh38]
Chr15:66774190 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.774T>C (p.Val258=) single nucleotide variant RASopathy [RCV003539505] Chr15:66485070 [GRCh38]
Chr15:66777408 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.556A>G (p.Ile186Val) single nucleotide variant RASopathy [RCV003539513] Chr15:66444695 [GRCh38]
Chr15:66737033 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.292-2A>G single nucleotide variant not specified [RCV003995054] Chr15:66436744 [GRCh38]
Chr15:66729082 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.138del (p.Gln46fs) deletion RASopathy [RCV003539528] Chr15:66435084 [GRCh38]
Chr15:66727422 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.139C>A (p.Arg47=) single nucleotide variant RASopathy [RCV003539529] Chr15:66435085 [GRCh38]
Chr15:66727423 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.292-13del deletion RASopathy [RCV003654762]|not specified [RCV005240893] Chr15:66436732 [GRCh38]
Chr15:66729070 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.81-7G>C single nucleotide variant RASopathy [RCV003539565] Chr15:66435020 [GRCh38]
Chr15:66727358 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.404G>A (p.Ser135Asn) single nucleotide variant RASopathy [RCV003654781] Chr15:66436858 [GRCh38]
Chr15:66729196 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.828G>A (p.Gly276=) single nucleotide variant MAP2K1-related disorder [RCV004539109]|RASopathy [RCV003654803] Chr15:66485124 [GRCh38]
Chr15:66777462 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.41C>T (p.Ala14Val) single nucleotide variant RASopathy [RCV003654849] Chr15:66387388 [GRCh38]
Chr15:66679726 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.649G>A (p.Asp217Asn) single nucleotide variant RASopathy [RCV003655824] Chr15:66481835 [GRCh38]
Chr15:66774173 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.31C>G (p.Leu11Val) single nucleotide variant RASopathy [RCV003539580] Chr15:66387378 [GRCh38]
Chr15:66679716 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.851C>A (p.Ala284Asp) single nucleotide variant RASopathy [RCV003834759] Chr15:66485147 [GRCh38]
Chr15:66777485 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.669C>T (p.Phe223=) single nucleotide variant RASopathy [RCV003655993] Chr15:66481855 [GRCh38]
Chr15:66774193 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.873G>A (p.Arg291=) single nucleotide variant RASopathy [RCV003654756] Chr15:66485169 [GRCh38]
Chr15:66777507 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.438+13C>T single nucleotide variant RASopathy [RCV003654820] Chr15:66436905 [GRCh38]
Chr15:66729243 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.600C>T (p.Ser200=) single nucleotide variant RASopathy [RCV003654867] Chr15:66481786 [GRCh38]
Chr15:66774124 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.864C>G (p.Pro288=) single nucleotide variant RASopathy [RCV003655532] Chr15:66485160 [GRCh38]
Chr15:66777498 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.726G>A (p.Val242=) single nucleotide variant RASopathy [RCV003655761] Chr15:66485022 [GRCh38]
Chr15:66777360 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.694-16T>A single nucleotide variant RASopathy [RCV003655615] Chr15:66484974 [GRCh38]
Chr15:66777312 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.438+9C>T single nucleotide variant RASopathy [RCV003655642] Chr15:66436901 [GRCh38]
Chr15:66729239 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.939G>A (p.Leu313=) single nucleotide variant RASopathy [RCV003655699] Chr15:66487271 [GRCh38]
Chr15:66779609 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.694-7C>T single nucleotide variant RASopathy [RCV003654626] Chr15:66484983 [GRCh38]
Chr15:66777321 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.637G>A (p.Gly213Arg) single nucleotide variant RASopathy [RCV003654768] Chr15:66481823 [GRCh38]
Chr15:66774161 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.516+3G>A single nucleotide variant Melorheostosis [RCV005013163]|RASopathy [RCV003654828] Chr15:66443360 [GRCh38]
Chr15:66735698 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.811C>G (p.Leu271Val) single nucleotide variant RASopathy [RCV003654638] Chr15:66485107 [GRCh38]
Chr15:66777445 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.247T>C (p.Phe83Leu) single nucleotide variant RASopathy [RCV003654650] Chr15:66435193 [GRCh38]
Chr15:66727531 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.603T>C (p.Arg201=) single nucleotide variant RASopathy [RCV003654665] Chr15:66481789 [GRCh38]
Chr15:66774127 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.983_987del (p.Gly328fs) deletion RASopathy [RCV003654797] Chr15:66489233..66489237 [GRCh38]
Chr15:66781571..66781575 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.239G>A (p.Gly80Asp) single nucleotide variant RASopathy [RCV003540355] Chr15:66435185 [GRCh38]
Chr15:66727523 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.291+9G>T single nucleotide variant RASopathy [RCV003823341] Chr15:66435246 [GRCh38]
Chr15:66727584 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.438+16_438+17del microsatellite RASopathy [RCV003540280] Chr15:66436905..66436906 [GRCh38]
Chr15:66729243..66729244 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.693+14T>G single nucleotide variant RASopathy [RCV003540058] Chr15:66481893 [GRCh38]
Chr15:66774231 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.517-1G>T single nucleotide variant RASopathy [RCV003540177] Chr15:66444655 [GRCh38]
Chr15:66736993 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.694-13_694-10del microsatellite RASopathy [RCV003818765] Chr15:66484971..66484974 [GRCh38]
Chr15:66777309..66777312 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.81G>A (p.Glu27=) single nucleotide variant RASopathy [RCV003539621] Chr15:66435027 [GRCh38]
Chr15:66727365 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.96C>T (p.Ala32=) single nucleotide variant RASopathy [RCV003540117] Chr15:66435042 [GRCh38]
Chr15:66727380 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.81-12A>G single nucleotide variant RASopathy [RCV003540127] Chr15:66435015 [GRCh38]
Chr15:66727353 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.438+11_438+18del deletion RASopathy [RCV003540248] Chr15:66436901..66436908 [GRCh38]
Chr15:66729239..66729246 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.438+9C>A single nucleotide variant RASopathy [RCV003540411] Chr15:66436901 [GRCh38]
Chr15:66729239 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.462C>T (p.Val154=) single nucleotide variant Cardiovascular phenotype [RCV004516165]|RASopathy [RCV005100431] Chr15:66443303 [GRCh38]
Chr15:66735641 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.618C>T (p.Leu206=) single nucleotide variant Cardiovascular phenotype [RCV004516166] Chr15:66481804 [GRCh38]
Chr15:66774142 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.883A>G (p.Arg295Gly) single nucleotide variant Cardiovascular phenotype [RCV004516167] Chr15:66485179 [GRCh38]
Chr15:66777517 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.327C>T (p.Asn109=) single nucleotide variant Cardiovascular phenotype [RCV004516164] Chr15:66436781 [GRCh38]
Chr15:66729119 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.568+14005G>A single nucleotide variant not provided [RCV003887028] Chr15:66458712 [GRCh38]
Chr15:66751050 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.568+14010_568+14032del deletion not provided [RCV003887812] Chr15:66458712..66458734 [GRCh38]
Chr15:66751050..66751072 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.635G>C (p.Ser212Thr) single nucleotide variant Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991601] Chr15:66481821 [GRCh38]
Chr15:66774159 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.154G>A (p.Ala52Thr) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV003991217] Chr15:66435100 [GRCh38]
Chr15:66727438 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.646A>G (p.Ile216Val) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV004560371] Chr15:66481832 [GRCh38]
Chr15:66774170 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.314C>G (p.Pro105Arg) single nucleotide variant Cardiovascular phenotype [RCV004636471] Chr15:66436768 [GRCh38]
Chr15:66729106 [GRCh37]
Chr15:15q22.31		 uncertain significance
NC_000015.9:g.(?_66736974)_(66737065_?)dup duplication RASopathy [RCV004583070] Chr15:66736974..66737065 [GRCh37]
Chr15:15q22.31		 uncertain significance
NC_000015.9:g.(?_66679686)_(66729250_?)dup duplication RASopathy [RCV004583071] Chr15:66679686..66729250 [GRCh37]
Chr15:15q22.31		 uncertain significance
NC_000015.9:g.(?_66780810)_(66782933_?)del deletion RASopathy [RCV004583072] Chr15:66780810..66782933 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.733G>A (p.Asp245Asn) single nucleotide variant not provided [RCV004592374] Chr15:66485029 [GRCh38]
Chr15:66777367 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.147_149dup (p.Leu50_Glu51insLeu) duplication Cardiofaciocutaneous syndrome 3 [RCV004598535] Chr15:66435092..66435093 [GRCh38]
Chr15:66727430..66727431 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.395C>T (p.Ala132Val) single nucleotide variant not provided [RCV004702003] Chr15:66436849 [GRCh38]
Chr15:66729187 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.1046G>C (p.Arg349Thr) single nucleotide variant Cardiovascular phenotype [RCV004642806] Chr15:66489741 [GRCh38]
Chr15:66782079 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.441T>C (p.Asp147=) single nucleotide variant Cardiovascular phenotype [RCV004636470] Chr15:66443282 [GRCh38]
Chr15:66735620 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1091C>A (p.Ser364Tyr) single nucleotide variant Cardiovascular phenotype [RCV004642804] Chr15:66490524 [GRCh38]
Chr15:66782862 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.902dup (p.Met302fs) duplication not provided [RCV004772299] Chr15:66487232..66487233 [GRCh38]
Chr15:66779570..66779571 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1180_1181dup (p.Ter394TyrextTer?) duplication not provided [RCV004726120] Chr15:66490612..66490613 [GRCh38]
Chr15:66782950..66782951 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.578C>T (p.Pro193Leu) single nucleotide variant not provided [RCV004778815] Chr15:66481764 [GRCh38]
Chr15:66774102 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.333_335del (p.Ile112del) deletion MAP2K1-related disorder [RCV004735361] Chr15:66436785..66436787 [GRCh38]
Chr15:66729123..66729125 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.65G>A (p.Gly22Glu) single nucleotide variant not provided [RCV004701974] Chr15:66387412 [GRCh38]
Chr15:66679750 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.424T>C (p.Cys142Arg) single nucleotide variant not provided [RCV004701986] Chr15:66436878 [GRCh38]
Chr15:66729216 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.861A>G (p.Pro287=) single nucleotide variant Cardiovascular phenotype [RCV004995633] Chr15:66485157 [GRCh38]
Chr15:66777495 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1152del (p.Ser385fs) deletion Cardiovascular phenotype [RCV004995630] Chr15:66490583 [GRCh38]
Chr15:66782921 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.200A>G (p.Asp67Gly) single nucleotide variant Melorheostosis [RCV005011879] Chr15:66435146 [GRCh38]
Chr15:66727484 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.428T>C (p.Met143Thr) single nucleotide variant Melorheostosis [RCV005011880] Chr15:66436882 [GRCh38]
Chr15:66729220 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.-7G>A single nucleotide variant Melorheostosis [RCV005011877] Chr15:66387341 [GRCh38]
Chr15:66679679 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.80+5G>A single nucleotide variant Melorheostosis [RCV005011878] Chr15:66387432 [GRCh38]
Chr15:66679770 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.510C>T (p.Ser170=) single nucleotide variant Melorheostosis [RCV005011881]|RASopathy [RCV005061866] Chr15:66443351 [GRCh38]
Chr15:66735689 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1000T>G (p.Phe334Val) single nucleotide variant Cardiovascular phenotype [RCV004995629] Chr15:66489254 [GRCh38]
Chr15:66781592 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.893G>C (p.Ser298Thr) single nucleotide variant Melorheostosis [RCV005011882] Chr15:66485189 [GRCh38]
Chr15:66777527 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1170T>G (p.Ala390=) single nucleotide variant Cardiovascular phenotype [RCV004995631] Chr15:66490603 [GRCh38]
Chr15:66782941 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1161A>C (p.Pro387=) single nucleotide variant Cardiovascular phenotype [RCV004995632] Chr15:66490594 [GRCh38]
Chr15:66782932 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1068+5G>A single nucleotide variant Melorheostosis [RCV005003147] Chr15:66489768 [GRCh38]
Chr15:66782106 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.*17A>T single nucleotide variant Melorheostosis [RCV005011884]|not specified [RCV005417484] Chr15:66490632 [GRCh38]
Chr15:66782970 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1166A>G (p.His389Arg) single nucleotide variant Melorheostosis [RCV005011883] Chr15:66490599 [GRCh38]
Chr15:66782937 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.427A>C (p.Met143Leu) single nucleotide variant Melorheostosis [RCV005003142] Chr15:66436881 [GRCh38]
Chr15:66729219 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.528C>T (p.Gly176=) single nucleotide variant Melorheostosis [RCV005003144]|RASopathy [RCV005061867] Chr15:66444667 [GRCh38]
Chr15:66737005 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_002755.4(MAP2K1):c.1133C>T (p.Thr378Ile) single nucleotide variant RASopathy [RCV005144258] Chr15:66490566 [GRCh38]
Chr15:66782904 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.516+13T>A single nucleotide variant RASopathy [RCV005060116] Chr15:66443370 [GRCh38]
Chr15:66735708 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1123C>T (p.Leu375Phe) single nucleotide variant RASopathy [RCV005206337] Chr15:66490556 [GRCh38]
Chr15:66782894 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.80+14_80+19del deletion RASopathy [RCV005105796] Chr15:66387441..66387446 [GRCh38]
Chr15:66679779..66679784 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1068+19G>T single nucleotide variant RASopathy [RCV005117136] Chr15:66489782 [GRCh38]
Chr15:66782120 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1069-10T>C single nucleotide variant RASopathy [RCV005117034] Chr15:66490492 [GRCh38]
Chr15:66782830 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.980G>A (p.Ser327Asn) single nucleotide variant RASopathy [RCV005086261] Chr15:66489234 [GRCh38]
Chr15:66781572 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.858C>A (p.Thr286=) single nucleotide variant RASopathy [RCV005195681] Chr15:66485154 [GRCh38]
Chr15:66777492 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1068+18G>C single nucleotide variant RASopathy [RCV005207001] Chr15:66489781 [GRCh38]
Chr15:66782119 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.896-6T>A single nucleotide variant RASopathy [RCV005086120] Chr15:66487222 [GRCh38]
Chr15:66779560 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.516+12A>G single nucleotide variant RASopathy [RCV005066513] Chr15:66443369 [GRCh38]
Chr15:66735707 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1069-7C>T single nucleotide variant RASopathy [RCV005159929] Chr15:66490495 [GRCh38]
Chr15:66782833 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1068+18G>T single nucleotide variant RASopathy [RCV005160504] Chr15:66489781 [GRCh38]
Chr15:66782119 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1022+9G>C single nucleotide variant RASopathy [RCV005189637] Chr15:66489285 [GRCh38]
Chr15:66781623 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.438+4T>C single nucleotide variant RASopathy [RCV005206593] Chr15:66436896 [GRCh38]
Chr15:66729234 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.53C>T (p.Ser18Phe) single nucleotide variant RASopathy [RCV005159571] Chr15:66387400 [GRCh38]
Chr15:66679738 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.195T>C (p.Asp65=) single nucleotide variant RASopathy [RCV005157887] Chr15:66435141 [GRCh38]
Chr15:66727479 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.569-12_569-8del deletion RASopathy [RCV005207804] Chr15:66481740..66481744 [GRCh38]
Chr15:66774078..66774082 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.183_194dup (p.Lys64_Asp65insGluGluLeuLys) duplication RASopathy [RCV005119625] Chr15:66435128..66435129 [GRCh38]
Chr15:66727466..66727467 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.792TCC[1] (p.Pro266del) microsatellite RASopathy [RCV005192143] Chr15:66485086..66485088 [GRCh38]
Chr15:66777424..66777426 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.81-6G>A single nucleotide variant RASopathy [RCV005128447] Chr15:66435021 [GRCh38]
Chr15:66727359 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.155C>T (p.Ala52Val) single nucleotide variant RASopathy [RCV005078826] Chr15:66435101 [GRCh38]
Chr15:66727439 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.830G>C (p.Cys277Ser) single nucleotide variant RASopathy [RCV005189447] Chr15:66485126 [GRCh38]
Chr15:66777464 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.345G>A (p.Leu115=) single nucleotide variant RASopathy [RCV005138579] Chr15:66436799 [GRCh38]
Chr15:66729137 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.*28C>G single nucleotide variant not provided [RCV005242791] Chr15:66490643 [GRCh38]
Chr15:66782981 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1022+3A>G single nucleotide variant RASopathy [RCV005121149] Chr15:66489279 [GRCh38]
Chr15:66781617 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.64G>A (p.Gly22Arg) single nucleotide variant RASopathy [RCV005202840] Chr15:66387411 [GRCh38]
Chr15:66679749 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.283G>T (p.Ala95Ser) single nucleotide variant RASopathy [RCV005168793] Chr15:66435229 [GRCh38]
Chr15:66727567 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.516+3_516+10dup duplication RASopathy [RCV005084495] Chr15:66443356..66443357 [GRCh38]
Chr15:66735694..66735695 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.114G>C (p.Glu38Asp) single nucleotide variant RASopathy [RCV005139987] Chr15:66435060 [GRCh38]
Chr15:66727398 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.1023-9dup duplication RASopathy [RCV005160113] Chr15:66489707..66489708 [GRCh38]
Chr15:66782045..66782046 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.472G>T (p.Ala158Ser) single nucleotide variant RASopathy [RCV005140706] Chr15:66443313 [GRCh38]
Chr15:66735651 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.81-11C>T single nucleotide variant RASopathy [RCV005135405] Chr15:66435016 [GRCh38]
Chr15:66727354 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.516+22del deletion RASopathy [RCV005116783] Chr15:66443375 [GRCh38]
Chr15:66735713 [GRCh37]
Chr15:15q22.31		 benign
NM_002755.4(MAP2K1):c.81-3C>T single nucleotide variant RASopathy [RCV005166821] Chr15:66435024 [GRCh38]
Chr15:66727362 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.714T>C (p.Thr238=) single nucleotide variant RASopathy [RCV005083346] Chr15:66485010 [GRCh38]
Chr15:66777348 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.902G>A (p.Gly301Glu) single nucleotide variant RASopathy [RCV005078429] Chr15:66487234 [GRCh38]
Chr15:66779572 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.880G>A (p.Gly294Arg) single nucleotide variant RASopathy [RCV005188115]|not provided [RCV005250402] Chr15:66485176 [GRCh38]
Chr15:66777514 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.919C>T (p.Pro307Ser) single nucleotide variant RASopathy [RCV005129119] Chr15:66487251 [GRCh38]
Chr15:66779589 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.214A>C (p.Ser72Arg) single nucleotide variant RASopathy [RCV005193558] Chr15:66435160 [GRCh38]
Chr15:66727498 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.58G>A (p.Val20Ile) single nucleotide variant RASopathy [RCV005164302] Chr15:66387405 [GRCh38]
Chr15:66679743 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.694-4G>A single nucleotide variant RASopathy [RCV005185780] Chr15:66484986 [GRCh38]
Chr15:66777324 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.363C>T (p.Cys121=) single nucleotide variant RASopathy [RCV005122784] Chr15:66436817 [GRCh38]
Chr15:66729155 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.292-13_292-3del deletion RASopathy [RCV005198561] Chr15:66436732..66436742 [GRCh38]
Chr15:66729070..66729080 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.870A>G (p.Pro290=) single nucleotide variant RASopathy [RCV005151571] Chr15:66485166 [GRCh38]
Chr15:66777504 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.568+6_568+8del microsatellite RASopathy [RCV005108058] Chr15:66444710..66444712 [GRCh38]
Chr15:66737048..66737050 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.44C>G (p.Pro15Arg) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV005254997]|RASopathy [RCV005182641] Chr15:66387391 [GRCh38]
Chr15:66679729 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.805A>T (p.Lys269Ter) single nucleotide variant RASopathy [RCV005201146] Chr15:66485101 [GRCh38]
Chr15:66777439 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.693+13G>A single nucleotide variant RASopathy [RCV005182680] Chr15:66481892 [GRCh38]
Chr15:66774230 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.960+11C>T single nucleotide variant RASopathy [RCV005125304] Chr15:66487303 [GRCh38]
Chr15:66779641 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1023-7C>T single nucleotide variant RASopathy [RCV005152145] Chr15:66489711 [GRCh38]
Chr15:66782049 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.921C>T (p.Pro307=) single nucleotide variant RASopathy [RCV005181901] Chr15:66487253 [GRCh38]
Chr15:66779591 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.864C>T (p.Pro288=) single nucleotide variant RASopathy [RCV005108383] Chr15:66485160 [GRCh38]
Chr15:66777498 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.796C>T (p.Pro266Ser) single nucleotide variant RASopathy [RCV005203029] Chr15:66485092 [GRCh38]
Chr15:66777430 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.38C>T (p.Pro13Leu) single nucleotide variant RASopathy [RCV005109740] Chr15:66387385 [GRCh38]
Chr15:66679723 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.542G>T (p.Arg181Met) single nucleotide variant RASopathy [RCV005203031] Chr15:66444681 [GRCh38]
Chr15:66737019 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.845A>G (p.Asp282Gly) single nucleotide variant Cardiovascular phenotype [RCV005369299] Chr15:66485141 [GRCh38]
Chr15:66777479 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.171_185del (p.Gln58_Glu62del) deletion Extracranial arteriovenous malformation [RCV005251533] Chr15:66435116..66435130 [GRCh38]
Chr15:66727454..66727468 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_002755.4(MAP2K1):c.960+4dup duplication Cardiovascular phenotype [RCV005375332] Chr15:66487294..66487295 [GRCh38]
Chr15:66779632..66779633 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.687C>T (p.Tyr229=) single nucleotide variant Cardiovascular phenotype [RCV005375330] Chr15:66481873 [GRCh38]
Chr15:66774211 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.492A>T (p.Gln164His) single nucleotide variant Cardiovascular phenotype [RCV005375331] Chr15:66443333 [GRCh38]
Chr15:66735671 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.974T>G (p.Leu325Arg) single nucleotide variant not provided [RCV005422664] Chr15:66489228 [GRCh38]
Chr15:66781566 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.527G>T (p.Gly176Val) single nucleotide variant Cardiofaciocutaneous syndrome 3 [RCV005411177] Chr15:66444666 [GRCh38]
Chr15:66737004 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_002755.4(MAP2K1):c.962C>G (p.Pro321Arg) single nucleotide variant not provided [RCV005413930] Chr15:66489216 [GRCh38]
Chr15:66781554 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.568+2T>C single nucleotide variant Melorheostosis [RCV005003146] Chr15:66444709 [GRCh38]
Chr15:66737047 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.383_384delinsTT (p.Gly128Val) indel RASopathy [RCV000158013] Chr15:66436837..66436838 [GRCh38]
Chr15:66729175..66729176 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000208748]|Melorheostosis [RCV002051691]|Vascular malformation [RCV005251094]|not provided [RCV002254287] Chr15:66435117 [GRCh38]
Chr15:66727455 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic|not provided
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_002755.4(MAP2K1):c.374A>G (p.Tyr125Cys) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000999626] Chr15:66436828 [GRCh38]
Chr15:66729166 [GRCh37]
Chr15:15q22.31		 not provided
NM_002755.4(MAP2K1):c.1062A>C (p.Gln354His) single nucleotide variant Melorheostosis [RCV005007924]|Melorheostosis [RCV005394190]|RASopathy [RCV000805715] Chr15:66489757 [GRCh38]
Chr15:66782095 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_002755.4(MAP2K1):c.439-19C>G single nucleotide variant Melorheostosis [RCV005003143] Chr15:66443261 [GRCh38]
Chr15:66735599 [GRCh37]
Chr15:15q22.31		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR497hsa-miR-497-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI23092882
MIR34Ahsa-miR-34a-5pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blot//Functional MTI20299489
MIR34Ahsa-miR-34a-3pMirecordsexternal_infoNANA20299489

Predicted Target Of
Summary Value
Count of predictions:928
Count of miRNA genes:531
Interacting mature miRNAs:585
Transcripts:ENST00000307102, ENST00000425818, ENST00000566326
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597603086GWAS1659946_Hprostate cancer QTL GWAS1659946 (human)1e-11prostate cancer156642240566422406Human
407055954GWAS704930_Hinsomnia measurement QTL GWAS704930 (human)2e-08sleep behavior trait (VT:0001501)156641704866417049Human
597063559GWAS1159633_Hrenal cell carcinoma QTL GWAS1159633 (human)0.0000002kidney integrity trait (VT:0010580)156643661366436614Human
597272139GWAS1368213_Hinsomnia QTL GWAS1368213 (human)1e-12sleep behavior trait (VT:0001501)156640399466403995Human
597145203GWAS1241277_Htriglyceride measurement QTL GWAS1241277 (human)5e-09triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)156640439766404398Human
597149842GWAS1245916_Hbody mass index QTL GWAS1245916 (human)2e-13body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)156643796966437970Human
597607579GWAS1664439_Hprostate carcinoma QTL GWAS1664439 (human)5e-12prostate integrity trait (VT:0010571)156649092366490924Human
597051520GWAS1147594_Hresponse to selective serotonin reuptake inhibitor QTL GWAS1147594 (human)0.000007response to xenobiotic stimulus trait (VT:0010487)156648093966480940Human
597287359GWAS1383433_Hbody mass index QTL GWAS1383433 (human)6e-10body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)156643597266435973Human
596979170GWAS1098689_Hbody height QTL GWAS1098689 (human)1e-08body height156640399466403995Human
597036986GWAS1133060_Hbody mass index QTL GWAS1133060 (human)1e-12body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)156644904966449050Human
597205941GWAS1302015_Hmathematical ability QTL GWAS1302015 (human)7e-13cognitive behavior trait (VT:0010450)156641211166412112Human

Markers in Region
D15S534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371566,753,713 - 66,753,911UniSTSGRCh37
Celera1543,643,401 - 43,643,599UniSTS
Cytogenetic Map15q22.1-q22.33UniSTS
HuRef1543,589,857 - 43,590,059UniSTS
Marshfield Genetic Map1561.84RGD
Marshfield Genetic Map1561.84UniSTS
RH28581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371566,783,627 - 66,783,749UniSTSGRCh37
GRCh37829,887,093 - 29,887,215UniSTSGRCh37
Build 36830,006,635 - 30,006,757RGDNCBI36
Celera1543,672,834 - 43,672,956UniSTS
Celera828,846,331 - 28,846,453RGD
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map15q22.1-q22.33UniSTS
HuRef1543,619,747 - 43,619,869UniSTS
HuRef828,431,791 - 28,431,913UniSTS
RH68988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371566,782,945 - 66,783,085UniSTSGRCh37
GRCh37829,886,408 - 29,886,548UniSTSGRCh37
Build 36830,005,950 - 30,006,090RGDNCBI36
Celera1543,672,152 - 43,672,292UniSTS
Celera828,845,646 - 28,845,786RGD
Cytogenetic Map8p12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map15q22.1-q22.33UniSTS
HuRef1543,619,065 - 43,619,205UniSTS
HuRef828,431,106 - 28,431,246UniSTS
MAP2K1_2178  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371566,783,241 - 66,784,054UniSTSGRCh37
Build 361564,570,295 - 64,571,108RGDNCBI36
Celera1543,672,448 - 43,673,261RGD
HuRef1543,619,361 - 43,620,174UniSTS
UniSTS:489729  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37829,885,170 - 29,886,758UniSTSGRCh37
Celera828,844,409 - 28,845,996UniSTS
HuRef828,429,869 - 28,431,456UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC055855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC116913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF190498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC139729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE856741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG709050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA419665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA653983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L05624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L11284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000307102   ⟹   ENSP00000302486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,544 (+)Ensembl
Ensembl Acc Id: ENST00000425818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,837 - 66,444,966 (+)Ensembl
Ensembl Acc Id: ENST00000566326   ⟹   ENSP00000456438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,453,454 - 66,491,343 (+)Ensembl
Ensembl Acc Id: ENST00000684779   ⟹   ENSP00000508681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,401,879 - 66,491,533 (+)Ensembl
Ensembl Acc Id: ENST00000685172   ⟹   ENSP00000509604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,432 (+)Ensembl
Ensembl Acc Id: ENST00000685763   ⟹   ENSP00000509016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,656 (+)Ensembl
Ensembl Acc Id: ENST00000686347   ⟹   ENSP00000509027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,533 (+)Ensembl
Ensembl Acc Id: ENST00000687191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,507 (+)Ensembl
Ensembl Acc Id: ENST00000687481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,484,882 - 66,491,544 (+)Ensembl
Ensembl Acc Id: ENST00000688689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,486,578 - 66,491,533 (+)Ensembl
Ensembl Acc Id: ENST00000689951   ⟹   ENSP00000509308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,656 (+)Ensembl
Ensembl Acc Id: ENST00000691077   ⟹   ENSP00000509843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,507 (+)Ensembl
Ensembl Acc Id: ENST00000691576   ⟹   ENSP00000510066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,533 (+)Ensembl
Ensembl Acc Id: ENST00000691937   ⟹   ENSP00000508768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,507 (+)Ensembl
Ensembl Acc Id: ENST00000692487   ⟹   ENSP00000509534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,506 (+)Ensembl
Ensembl Acc Id: ENST00000692683   ⟹   ENSP00000508437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,401,741 - 66,491,656 (+)Ensembl
Ensembl Acc Id: ENST00000693150   ⟹   ENSP00000510309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,401,880 - 66,491,656 (+)Ensembl
RefSeq Acc Id: NM_001411065   ⟹   NP_001397994
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381566,401,879 - 66,491,544 (+)NCBI
T2T-CHM13v2.01564,223,331 - 64,313,019 (+)NCBI
RefSeq Acc Id: NM_002755   ⟹   NP_002746
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381566,386,912 - 66,491,544 (+)NCBI
GRCh371566,679,182 - 66,783,882 (+)NCBI
Build 361564,466,679 - 64,570,936 (+)NCBI Archive
HuRef1543,515,493 - 43,620,002 (+)ENTREZGENE
CHM1_11566,797,173 - 66,901,898 (+)NCBI
T2T-CHM13v2.01564,208,363 - 64,313,019 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521783   ⟹   XP_011520085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381566,401,879 - 66,491,544 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022411   ⟹   XP_016877900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381566,386,912 - 66,491,544 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054378443   ⟹   XP_054234418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01564,220,241 - 64,313,019 (+)NCBI
RefSeq Acc Id: XM_054378444   ⟹   XP_054234419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01564,208,363 - 64,313,019 (+)NCBI
RefSeq Acc Id: NP_002746   ⟸   NM_002755
- Peptide Label: isoform 1
- UniProtKB: Q02750 (UniProtKB/Swiss-Prot),   A4QPA9 (UniProtKB/TrEMBL),   A0A8I5KRX5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520085   ⟸   XM_011521783
- Peptide Label: isoform X1
- UniProtKB: B4DFY5 (UniProtKB/TrEMBL),   A0A8I5KRX5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877900   ⟸   XM_017022411
- Peptide Label: isoform X2
- UniProtKB: A0A8I5KRX5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000302486   ⟸   ENST00000307102
Ensembl Acc Id: ENSP00000456438   ⟸   ENST00000566326
Ensembl Acc Id: ENSP00000509604   ⟸   ENST00000685172
Ensembl Acc Id: ENSP00000508768   ⟸   ENST00000691937
Ensembl Acc Id: ENSP00000509027   ⟸   ENST00000686347
Ensembl Acc Id: ENSP00000510066   ⟸   ENST00000691576
Ensembl Acc Id: ENSP00000509308   ⟸   ENST00000689951
Ensembl Acc Id: ENSP00000509843   ⟸   ENST00000691077
Ensembl Acc Id: ENSP00000508437   ⟸   ENST00000692683
Ensembl Acc Id: ENSP00000509016   ⟸   ENST00000685763
Ensembl Acc Id: ENSP00000508681   ⟸   ENST00000684779
Ensembl Acc Id: ENSP00000510309   ⟸   ENST00000693150
Ensembl Acc Id: ENSP00000509534   ⟸   ENST00000692487
RefSeq Acc Id: NP_001397994   ⟸   NM_001411065
- Peptide Label: isoform 2
- UniProtKB: A0A8I5KYS7 (UniProtKB/TrEMBL),   A0A8I5KRX5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234419   ⟸   XM_054378444
- Peptide Label: isoform X2
- UniProtKB: A0A8I5KRX5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234418   ⟸   XM_054378443
- Peptide Label: isoform X1
- UniProtKB: B4DFY5 (UniProtKB/TrEMBL),   A0A8I5KRX5 (UniProtKB/TrEMBL)
Protein Domains
Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q02750-F1-model_v2 AlphaFold Q02750 1-393 view protein structure

Promoters
RGD ID:6792433
Promoter ID:HG_KWN:21709
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000256906
Position:
Human AssemblyChrPosition (strand)Source
Build 361564,465,846 - 64,466,346 (+)MPROMDB
RGD ID:7229869
Promoter ID:EPDNEW_H20679
Type:initiation region
Name:MAP2K1_1
Description:mitogen-activated protein kinase kinase 1
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
GRCh381566,386,912 - 66,386,972EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6840 AgrOrtholog
COSMIC MAP2K1 COSMIC
Ensembl Genes ENSG00000169032 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000307102 ENTREZGENE
  ENST00000307102.10 UniProtKB/Swiss-Prot
  ENST00000692683 ENTREZGENE
  ENST00000693150 ENTREZGENE
Gene3D-CATH Phosphorylase Kinase, domain 1 UniProtKB/Swiss-Prot
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000169032 GTEx
HGNC ID HGNC:6840 ENTREZGENE
Human Proteome Map MAP2K1 Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot
  MAP_kinase_kinase UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot
KEGG Report hsa:5604 UniProtKB/Swiss-Prot
NCBI Gene 5604 ENTREZGENE
OMIM 176872 OMIM
PANTHER DUAL SPECIFICITY MITOGEN-ACTIVATED PROTEIN KINASE KINASE DSOR1-LIKE PROTEIN UniProtKB/Swiss-Prot
  MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1 UniProtKB/Swiss-Prot
Pfam Pkinase UniProtKB/Swiss-Prot
PharmGKB MAP2K1 RGD, PharmGKB
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot
SMART S_TKc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot
UniProt A0A8I5KRX5 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KVF6_HUMAN UniProtKB/TrEMBL
  A0A8I5KXN4_HUMAN UniProtKB/TrEMBL
  A0A8I5KYB4_HUMAN UniProtKB/TrEMBL
  A0A8I5KYS7 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5QJ96_HUMAN UniProtKB/TrEMBL
  A0A8I5QJC1_HUMAN UniProtKB/TrEMBL
  A0A8I5QJL9_HUMAN UniProtKB/TrEMBL
  A0A8I5QJP8_HUMAN UniProtKB/TrEMBL
  A4QPA9 ENTREZGENE, UniProtKB/TrEMBL
  B4DFY5 ENTREZGENE, UniProtKB/TrEMBL
  H3BRW9_HUMAN UniProtKB/TrEMBL
  MP2K1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE