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 biosynthetic process. Located in cytosol; endoplasmic reticulum; and plasma membrane. 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 Genes
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 (+)EnsemblGRCh38hg38GRCh38
GRCh371566,679,250 - 66,783,882 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361564,466,679 - 64,570,936 (+)NCBINCBI36Build 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: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(+)-schisandrin B  (ISO)
(20R)-protopanaxadiol  (EXP)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-(5-isoquinolinesulfonyl)-2-methylpiperazine  (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)
2,6-dinitrotoluene  (ISO)
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)
amsacrine  (EXP)
anandamide  (ISO)
anethole  (EXP)
anthranilic acid  (EXP)
antimonite  (EXP)
Antrocin  (EXP)
arachidonic acid  (EXP)
Aroclor 1254  (ISO)
arsenic acid  (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 B  (EXP)
bortezomib  (EXP)
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)
clobetasol  (ISO)
clozapine  (ISO)
cobalt dichloride  (EXP,ISO)
cocaine  (EXP,ISO)
colforsin daropate hydrochloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cordycepin  (EXP)
corn oil  (ISO)
crocidolite asbestos  (EXP,ISO)
cumene  (ISO)
curcumin  (EXP)
cycloheximide  (ISO)
cyclosporin A  (EXP)
D-mannitol  (ISO)
daunorubicin  (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)
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)
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)
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)
ochratoxin A  (EXP)
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)
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)
titanium dioxide  (ISO)
toluene  (ISO)
toosendanin  (EXP)
trametinib  (EXP,ISO)
trans-anethole  (EXP)
trichostatin A  (EXP)
trimethyltin  (ISO)
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,ISO)
cell motility  (IEA,ISO)
cellular senescence  (IMP)
cerebellar cortex formation  (IEA,ISO)
chemotaxis  (TAS)
endodermal cell differentiation  (IEA,ISO)
epithelial cell proliferation involved in lung morphogenesis  (IEA,ISO)
ERBB2-ERBB3 signaling pathway  (IEA)
ERK1 and ERK2 cascade  (IEA,ISO,TAS)
face development  (IEA,ISO)
Golgi inheritance  (ISO)
heart development  (IEA,ISO)
insulin-like growth factor receptor signaling pathway  (IEA)
keratinocyte differentiation  (IEA,ISO)
labyrinthine layer development  (IEA,ISO)
lung morphogenesis  (IEA,ISO)
MAPK cascade  (IBA,IEA)
melanosome transport  (ISO)
myelination  (IEA)
negative regulation of cell population proliferation  (IDA)
negative regulation of gene expression  (ISO)
negative regulation of homotypic cell-cell adhesion  (ISO)
negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway  (ISO)
neuron differentiation  (IBA,IEA,ISO)
neuron projection morphogenesis  (ISO)
placenta blood vessel development  (IEA,ISO)
positive regulation of ATP biosynthetic process  (ISO)
positive regulation of autophagy  (ISO)
positive regulation of axonogenesis  (IEA,ISO)
positive regulation of cell migration  (ISO)
positive regulation of DNA-templated transcription  (IMP)
positive regulation of endodermal cell differentiation  (IEA,ISO)
positive regulation of ERK1 and ERK2 cascade  (IMP)
positive regulation of gene expression  (IMP)
positive regulation of GTPase activity  (ISO)
positive regulation of MAPK cascade  (IEA,ISO)
positive regulation of muscle contraction  (ISO)
positive regulation of Ras protein signal transduction  (ISO)
positive regulation of transcription elongation by RNA polymerase II  (ISO)
protein phosphorylation  (ISO)
regulation of axon regeneration  (IEA,ISO)
regulation of early endosome to late endosome transport  (IEA,TAS)
regulation of ERK1 and ERK2 cascade  (ISO)
regulation of Golgi inheritance  (IEA,TAS)
regulation of neurotransmitter receptor localization to postsynaptic specialization membrane  (ISO)
regulation of stress-activated MAPK cascade  (IEA,TAS)
regulation of vascular associated smooth muscle contraction  (ISO)
response to axon injury  (ISO)
response to glucocorticoid  (ISO)
response to oxidative stress  (ISO)
Schwann cell development  (IEA)
signal transduction  (TAS)
thymus development  (IEA,ISO)
thyroid gland development  (IEA,ISO)
trachea formation  (IEA,ISO)
triglyceride homeostasis  (ISO)
type B pancreatic cell proliferation  (IEA,ISO)
vesicle transport along microtubule  (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 sternum morphology  (IAGP)
Abnormality of speech or vocalization  (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)
Atrial septal defect  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Biparietal narrowing  (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)
Cryptorchidism  (IAGP)
Cubitus valgus  (IAGP)
Curly hair  (IAGP)
Cutaneous melanoma  (IAGP)
Cystic hygroma  (IAGP)
Deep palmar crease  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dry skin  (IAGP)
Dysarthria  (IAGP)
Dystrophic fingernails  (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)
Fine hair  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Functional abnormality of the gastrointestinal tract  (IAGP)
Gastric adenocarcinoma  (IAGP)
Generalized hyperpigmentation  (IAGP)
Genu valgum  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Heat intolerance  (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)
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)
Low-set, posteriorly rotated ears  (IAGP)
Lung adenocarcinoma  (IAGP)
Lymphedema  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Male infertility  (IAGP)
Melanoma  (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)
Palmoplantar keratoderma  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Pectus excavatum of inferior sternum  (IAGP)
Postnatal growth retardation  (IAGP)
Premature birth  (IAGP)
Progressive  (IAGP)
Ptosis  (IAGP)
Pulmonic stenosis  (IAGP)
Radial deviation of finger  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced factor XII activity  (IAGP)
Reduced factor XIII activity  (IAGP)
Redundant skin  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Shield chest  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Slow-growing hair  (IAGP)
Sparse hair  (IAGP)
Sparse or absent eyelashes  (IAGP)
Sporadic  (IAGP)
Squamous cell lung carcinoma  (IAGP)
Strabismus  (IAGP)
Submucous cleft hard palate  (IAGP)
Superior pectus carinatum  (IAGP)
Synovitis  (IAGP)
Thickened helices  (IAGP)
Transitional cell carcinoma of the bladder  (IAGP)
Triangular face  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Ventricular septal defect  (IAGP)
Webbed neck  (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
PMID:1281467   PMID:7527398   PMID:7601337   PMID:7624324   PMID:7731720   PMID:7957875   PMID:7969158   PMID:8131746   PMID:8157000   PMID:8226933   PMID:8388392   PMID:8394352  
PMID:8529659   PMID:8617731   PMID:8621729   PMID:8626767   PMID:8631303   PMID:8900182   PMID:8939914   PMID:9006895   PMID:9069267   PMID:9223324   PMID:9311917   PMID:9325171  
PMID:9351825   PMID:9465908   PMID:9553107   PMID:9558095   PMID:9563949   PMID:9564043   PMID:9621077   PMID:9733512   PMID:9733801   PMID:9765203   PMID:9841871   PMID:10395327  
PMID:10402467   PMID:10409742   PMID:10489373   PMID:10509564   PMID:10523642   PMID:10570282   PMID:10644344   PMID:10712923   PMID:10716983   PMID:10757792   PMID:10780709   PMID:10799874  
PMID:10806207   PMID:10828601   PMID:10848576   PMID:10912793   PMID:10958680   PMID:10969079   PMID:10982368   PMID:10997882   PMID:11044099   PMID:11044439   PMID:11104681   PMID:11134045  
PMID:11226259   PMID:11260070   PMID:11266467   PMID:11278389   PMID:11279118   PMID:11352917   PMID:11409852   PMID:11520933   PMID:11535599   PMID:11579140   PMID:11604401   PMID:11684694  
PMID:11726657   PMID:11741534   PMID:11741894   PMID:11823456   PMID:11891225   PMID:11940661   PMID:11948406   PMID:12032872   PMID:12063167   PMID:12089333   PMID:12167619   PMID:12370306  
PMID:12456688   PMID:12477932   PMID:12482669   PMID:12522135   PMID:12522145   PMID:12531514   PMID:12556561   PMID:12594221   PMID:12609978   PMID:12612059   PMID:12663662   PMID:12682854  
PMID:12689928   PMID:12697810   PMID:12775419   PMID:12788955   PMID:12792650   PMID:12807433   PMID:12839928   PMID:12917419   PMID:12975377   PMID:14500727   PMID:14581471   PMID:14656894  
PMID:14672918   PMID:14702039   PMID:14724641   PMID:15020233   PMID:15021912   PMID:15069060   PMID:15090600   PMID:15118098   PMID:15155804   PMID:15231747   PMID:15258589   PMID:15276183  
PMID:15284233   PMID:15292274   PMID:15297310   PMID:15299019   PMID:15353548   PMID:15485920   PMID:15520859   PMID:15538402   PMID:15543157   PMID:15557124   PMID:15572374   PMID:15615716  
PMID:15638726   PMID:15657353   PMID:15657590   PMID:15665520   PMID:15757891   PMID:15866172   PMID:15888452   PMID:15979847   PMID:16086581   PMID:16093354   PMID:16239230   PMID:16291755  
PMID:16313339   PMID:16344560   PMID:16454711   PMID:16533805   PMID:16728640   PMID:16737746   PMID:16810323   PMID:16820947   PMID:16861903   PMID:16888650   PMID:16957420   PMID:17038630  
PMID:17054908   PMID:17101779   PMID:17110930   PMID:17182854   PMID:17192257   PMID:17197157   PMID:17255949   PMID:17260965   PMID:17366577   PMID:17419998   PMID:17461449   PMID:17490600  
PMID:17603482   PMID:17667937   PMID:17704260   PMID:17724343   PMID:17951252   PMID:17979178   PMID:17981815   PMID:18029348   PMID:18042262   PMID:18192500   PMID:18329369   PMID:18332145  
PMID:18390968   PMID:18413255   PMID:18424438   PMID:18434598   PMID:18533112   PMID:18556463   PMID:18569454   PMID:18593598   PMID:18617556   PMID:18632602   PMID:18660489   PMID:19001375  
PMID:19058874   PMID:19133693   PMID:19153083   PMID:19156172   PMID:19164283   PMID:19197339   PMID:19206169   PMID:19261809   PMID:19322201   PMID:19342664   PMID:19371126   PMID:19411838  
PMID:19447520   PMID:19453261   PMID:19500021   PMID:19565474   PMID:19567590   PMID:19625741   PMID:19681119   PMID:19802003   PMID:19816936   PMID:19835659   PMID:19858308   PMID:19953087  
PMID:20007706   PMID:20019835   PMID:20056645   PMID:20172001   PMID:20179161   PMID:20212043   PMID:20299489   PMID:20301303   PMID:20301365   PMID:20301557   PMID:20302979   PMID:20354455  
PMID:20404718   PMID:20433920   PMID:20512084   PMID:20554783   PMID:20610816   PMID:20676060   PMID:20679487   PMID:20885957   PMID:20926789   PMID:20936779   PMID:20956560   PMID:21131601  
PMID:21179471   PMID:21336309   PMID:21383288   PMID:21441104   PMID:21447798   PMID:21458501   PMID:21567396   PMID:21621846   PMID:21675959   PMID:21690289   PMID:21705440   PMID:21707777  
PMID:21713404   PMID:21835307   PMID:21873635   PMID:21965271   PMID:22020285   PMID:22037177   PMID:22052387   PMID:22065579   PMID:22180573   PMID:22188669   PMID:22197931   PMID:22241220  
PMID:22298595   PMID:22327936   PMID:22357202   PMID:22495818   PMID:22546605   PMID:22572157   PMID:22588879   PMID:22707717   PMID:22752157   PMID:22773810   PMID:22791812   PMID:22805291  
PMID:22805292   PMID:22833572   PMID:22902540   PMID:22935974   PMID:22946047   PMID:22946697   PMID:23001481   PMID:23157514   PMID:23225884   PMID:23237773   PMID:23241949   PMID:23319590  
PMID:23360980   PMID:23376485   PMID:23383273   PMID:23423222   PMID:23524336   PMID:23555914   PMID:23626836   PMID:23684925   PMID:23698055   PMID:23698777   PMID:23727904   PMID:23746211  
PMID:23852369   PMID:23923067   PMID:23934108   PMID:24011934   PMID:24091658   PMID:24104479   PMID:24114843   PMID:24132923   PMID:24211253   PMID:24241536   PMID:24255178   PMID:24338975  
PMID:24375836   PMID:24412244   PMID:24418364   PMID:24419498   PMID:24445144   PMID:24501087   PMID:24623782   PMID:24639526   PMID:24681949   PMID:24704364   PMID:24709918   PMID:24746704  
PMID:24909280   PMID:24982505   PMID:25155755   PMID:25164676   PMID:25188412   PMID:25194980   PMID:25202140   PMID:25351745   PMID:25370473   PMID:25408231   PMID:25416956   PMID:25425646  
PMID:25437913   PMID:25463315   PMID:25534823   PMID:25541062   PMID:25600339   PMID:25710724   PMID:25713071   PMID:25722381   PMID:25729732   PMID:25899310   PMID:25943894   PMID:26034353  
PMID:26143635   PMID:26155939   PMID:26163823   PMID:26186194   PMID:26208478   PMID:26324360   PMID:26344197   PMID:26358373   PMID:26384399   PMID:26426381   PMID:26496610   PMID:26514923  
PMID:26544513   PMID:26549023   PMID:26625317   PMID:26627737   PMID:26638075   PMID:26825960   PMID:26858456   PMID:26860843   PMID:26967560   PMID:26973648   PMID:26980021   PMID:27034005  
PMID:27098723   PMID:27169363   PMID:27241017   PMID:27453043   PMID:27588400   PMID:27597420   PMID:27636997   PMID:27684187   PMID:27693558   PMID:27703006   PMID:27741509   PMID:27862862  
PMID:27878292   PMID:27884160   PMID:27956260   PMID:28166211   PMID:28178421   PMID:28190454   PMID:28194436   PMID:28225038   PMID:28319113   PMID:28380382   PMID:28423638   PMID:28514442  
PMID:28533310   PMID:28534984   PMID:28664935   PMID:28687621   PMID:28688265   PMID:28846114   PMID:29018093   PMID:29117863   PMID:29194093   PMID:29331416   PMID:29395067   PMID:29433126  
PMID:29643386   PMID:29649018   PMID:29665121   PMID:29702094   PMID:29729697   PMID:29753091   PMID:29915160   PMID:30087384   PMID:30138550   PMID:30217449   PMID:30223301   PMID:30365139  
PMID:30377225   PMID:30463901   PMID:30826934   PMID:30938884   PMID:31015455   PMID:31091453   PMID:31123032   PMID:31129707   PMID:31227518   PMID:31355539   PMID:31379227   PMID:31407636  
PMID:31486960   PMID:31581174   PMID:31658877   PMID:31801908   PMID:31871319   PMID:31972311   PMID:31980649   PMID:31992579   PMID:32149426   PMID:32157142   PMID:32271937   PMID:32296183  
PMID:32335888   PMID:32361034   PMID:32387835   PMID:32483240   PMID:32524153   PMID:32634121   PMID:32654047   PMID:32703450   PMID:32707033   PMID:32721402   PMID:32757330   PMID:32791068  
PMID:32843616   PMID:32847629   PMID:32944792   PMID:33040161   PMID:33090396   PMID:33143608   PMID:33272017   PMID:33436306   PMID:33476180   PMID:33545068   PMID:33628588   PMID:33839686  
PMID:33957083   PMID:33961781   PMID:33999101   PMID:34017080   PMID:34026451   PMID:34079125   PMID:34185934   PMID:34407391   PMID:34459688   PMID:34497368   PMID:34595543   PMID:34709727  
PMID:34715128   PMID:34779126   PMID:34857952   PMID:34866601   PMID:34965427   PMID:35069558   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35509820   PMID:35831314   PMID:35961969  
PMID:36215168   PMID:36442478   PMID:36455195   PMID:36585710   PMID:36736316   PMID:36931259   PMID:37029817   PMID:37094858   PMID:37357851   PMID:37565534   PMID:37579140   PMID:37827155  
PMID:37869794   PMID:38496616  


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 (+)EnsemblGRCh38hg38GRCh38
GRCh371566,679,250 - 66,783,882 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361564,466,679 - 64,570,936 (+)NCBINCBI36Build 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 Ensembl
GRCm38964,185,769 - 64,253,605 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl964,185,770 - 64,253,631 (-)EnsemblGRCm38mm10GRCm38
MGSCv37964,033,600 - 64,101,412 (-)NCBIGRCm37MGSCv37mm9NCBIm37
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 (-)NCBIGRCr8
mRatBN7.2864,683,449 - 64,754,900 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl864,683,449 - 64,755,147 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx870,198,296 - 70,269,639 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0868,470,887 - 68,542,228 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0866,340,874 - 66,412,220 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0869,134,218 - 69,722,573 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl869,134,223 - 69,164,758 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0868,840,454 - 68,877,679 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4868,379,074 - 68,451,554 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1868,398,125 - 68,470,608 (-)NCBI
Celera864,090,188 - 64,161,314 (-)NCBICelera
Cytogenetic Map8q24NCBI
Map2k1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554509,181,851 - 9,239,648 (-)EnsemblChiLan1.0
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 (+)Ensemblpanpan1.1panPan2
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 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3030,613,296 - 30,690,593 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03030,879,701 - 30,957,083 (+)NCBIROS_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_1.0
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 (+)EnsemblSpeTri2.0SpeTri2.0 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 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
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 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
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_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247816,222,365 - 6,285,398 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MAP2K1
519 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 RASopathy [RCV000519252] Chr15:66487223 [GRCh38]
Chr15:66779561 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000520164]|Cardiofaciocutaneous syndrome 3 [RCV000014278]|not provided [RCV000158002] Chr15:66435104 [GRCh38]
Chr15:66727442 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000208757]|Cardiofaciocutaneous syndrome 3 [RCV000043672]|Inborn genetic diseases [RCV000623321]|MAP2K1-related condition [RCV003407327]|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 MAP2K1-related condition [RCV003904994]|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 condition [RCV003891459]|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]|not provided [RCV000158005] Chr15:66435221 [GRCh38]
Chr15:66727559 [GRCh37]
Chr15:15q22.31		 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]|Malignant melanoma of skin [RCV000417448]|Malignant neoplasm of body of uterus [RCV000425638]|Melanoma [RCV000436322]|Neoplasm of the large intestine [RCV000424633]|Noonan syndrome and Noonan-related syndrome [RCV001813306]|RASopathy [RCV002513329]|Transitional cell carcinoma of the bladder [RCV000435315]|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 condition [RCV003914942]|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 condition [RCV003964852]|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 condition [RCV003904919]|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 Inborn genetic diseases [RCV002513330]|MAP2K1-related condition [RCV003894845]|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 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 condition [RCV003975120]|RASopathy [RCV000523509]|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 condition [RCV003894983]|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 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 3 [RCV000192193]|Cardiovascular phenotype [RCV002415455]|MAP2K1-related RASopathy [RCV001095724]|Melanoma [RCV000423708]|Melorheostosis [RCV003224114]|Non-small cell lung carcinoma [RCV000439184]|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 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 condition [RCV003895068]|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]|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 condition [RCV003416019]|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.383_384delinsTT (p.Gly128Val) indel RASopathy [RCV000158013] Chr15:66436837..66436838 [GRCh38]
Chr15:66729175..66729176 [GRCh37]
Chr15:15q22.31		 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 MAP2K1-related condition [RCV003917820]|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.171G>T (p.Lys57Asn) single nucleotide variant Cardio-facio-cutaneous syndrome [RCV000208748]|Lung adenocarcinoma [RCV000428485]|Melanoma [RCV000438528]|Melorheostosis [RCV002051691]|Non-small cell lung carcinoma [RCV000421288]|not provided [RCV002254287] Chr15:66435117 [GRCh38]
Chr15:66727455 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic|not provided
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 condition [RCV003914901]|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 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 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 RASopathy [RCV002517478]|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 Inborn genetic diseases [RCV002544216]|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 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|uncertain significance
NM_002755.4(MAP2K1):c.1172C>T (p.Ala391Val) single nucleotide variant 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 not specified [RCV000423752] Chr15:66481883 [GRCh38]
Chr15:66774221 [GRCh37]
Chr15:15q22.31		 likely benign
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 Melanoma [RCV000439613] Chr15:66436837 [GRCh38]
Chr15:66729175 [GRCh37]
Chr15:15q22.31		 likely pathogenic
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 Melanoma [RCV000443354]|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 Melanoma [RCV000422377] 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]|Melanoma [RCV000418114] Chr15:66481793 [GRCh38]
Chr15:66774131 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_002755.4(MAP2K1):c.332T>A (p.Ile111Asn) single nucleotide variant Neoplasm [RCV000440339]|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 Melanoma [RCV000429601]|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]|Malignant melanoma of skin [RCV000419962]|Malignant neoplasm of body of uterus [RCV000418888]|Neoplasm of the large intestine [RCV000436127]|Transitional cell carcinoma of the bladder [RCV000425396] 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 Gastric adenocarcinoma [RCV000429649]|Lung adenocarcinoma [RCV000437917]|Malignant melanoma of skin [RCV000419591]|Melanoma [RCV000430292]|Non-Hodgkin lymphoma [RCV000420720]|Prostate adenocarcinoma [RCV000436816]|Squamous cell carcinoma of the head and neck [RCV000427279] Chr15:66435117 [GRCh38]
Chr15:66727455 [GRCh37]
Chr15:15q22.31		 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] 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]|Malignant melanoma of skin [RCV000443916]|Malignant neoplasm of body of uterus [RCV000433927]|Melanoma [RCV000433235]|Neoplasm of the large intestine [RCV000444865]|Noonan syndrome [RCV000824936]|RASopathy [RCV001250385]|Transitional cell carcinoma of the bladder [RCV000426713]|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
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.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 Inborn genetic diseases [RCV000623381]|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 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_001398281.1(TIPIN):c.-9+69T>G 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_001398281.1(TIPIN):c.-12T>A 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_001398281.1(TIPIN):c.-76G>A 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 Disorders [RCV000779173] Chr15:66485027 [GRCh38]
Chr15:66777365 [GRCh37]
Chr15:15q22.31		 uncertain significance
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
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 condition [RCV003914902]|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 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 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] Chr15:66485168 [GRCh38]
Chr15:66777506 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.1135A>G (p.Ile379Val) single nucleotide variant Inborn genetic diseases [RCV002534897]|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 Inborn genetic diseases [RCV003243352]|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.1062A>C (p.Gln354His) single nucleotide variant RASopathy [RCV000805715] Chr15:66489757 [GRCh38]
Chr15:66782095 [GRCh37]
Chr15:15q22.31		 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.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] 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 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 MAP2K1-related condition [RCV003405517]|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]|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 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 RASopathy [RCV001475448] Chr15:66489205 [GRCh38]
Chr15:66781543 [GRCh37]
Chr15:15q22.31		 likely benign
NM_002755.4(MAP2K1):c.565A>C (p.Arg189=) single nucleotide variant 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]|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 condition [RCV003900602]|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 Noonan syndrome and Noonan-related syndrome [RCV001813670]|RASopathy [RCV001869616] Chr15:66490571 [GRCh38]
Chr15:66782909 [GRCh37]
Chr15:15q22.31		 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 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] 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] 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.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.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 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] 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] 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] Chr15:66489751 [GRCh38]
Chr15:66782089 [GRCh37]
Chr15:15q22.31		 likely benign
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] 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 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 Inborn genetic diseases [RCV002616717]|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 Inborn genetic diseases [RCV002905851] 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 Inborn genetic diseases [RCV002804266] 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 Inborn genetic diseases [RCV002812169] 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 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 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 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.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] Chr15:66436759..66436764 [GRCh38]
Chr15:66729097..66729102 [GRCh37]
Chr15:15q22.31		 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 condition [RCV003414432] 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 condition [RCV003427929] Chr15:66481858 [GRCh38]
Chr15:66774196 [GRCh37]
Chr15:15q22.31		 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 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.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.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] 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 condition [RCV003893340]|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 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.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
miRNA Target Status

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.

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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 2406 2641 1698 606 1812 448 4352 2028 3523 387 1439 1605 171 1204 2788 3
Low 26 343 25 16 136 16 3 165 185 31 9 3 1
Below cutoff

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

Reference Sequences
RefSeq Acc Id: ENST00000307102   ⟹   ENSP00000302486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,544 (+)Ensembl
RefSeq Acc Id: ENST00000425818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,837 - 66,444,966 (+)Ensembl
RefSeq Acc Id: ENST00000566326   ⟹   ENSP00000456438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,453,454 - 66,491,343 (+)Ensembl
RefSeq Acc Id: ENST00000684779   ⟹   ENSP00000508681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,401,879 - 66,491,533 (+)Ensembl
RefSeq Acc Id: ENST00000685172   ⟹   ENSP00000509604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,432 (+)Ensembl
RefSeq Acc Id: ENST00000685763   ⟹   ENSP00000509016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,656 (+)Ensembl
RefSeq Acc Id: ENST00000686347   ⟹   ENSP00000509027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,533 (+)Ensembl
RefSeq Acc Id: ENST00000687191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,507 (+)Ensembl
RefSeq Acc Id: ENST00000687481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,484,882 - 66,491,544 (+)Ensembl
RefSeq Acc Id: ENST00000688689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,486,578 - 66,491,533 (+)Ensembl
RefSeq Acc Id: ENST00000689951   ⟹   ENSP00000509308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,656 (+)Ensembl
RefSeq Acc Id: ENST00000691077   ⟹   ENSP00000509843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,507 (+)Ensembl
RefSeq Acc Id: ENST00000691576   ⟹   ENSP00000510066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,533 (+)Ensembl
RefSeq Acc Id: ENST00000691937   ⟹   ENSP00000508768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,507 (+)Ensembl
RefSeq Acc Id: ENST00000692487   ⟹   ENSP00000509534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,386,912 - 66,491,506 (+)Ensembl
RefSeq Acc Id: ENST00000692683   ⟹   ENSP00000508437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1566,401,741 - 66,491,656 (+)Ensembl
RefSeq 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
Reference Protein Sequences
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:
RefSeq Acc Id: ENSP00000302486   ⟸   ENST00000307102
RefSeq Acc Id: ENSP00000456438   ⟸   ENST00000566326
RefSeq Acc Id: ENSP00000509604   ⟸   ENST00000685172
RefSeq Acc Id: ENSP00000508768   ⟸   ENST00000691937
RefSeq Acc Id: ENSP00000509027   ⟸   ENST00000686347
RefSeq Acc Id: ENSP00000510066   ⟸   ENST00000691576
RefSeq Acc Id: ENSP00000509308   ⟸   ENST00000689951
RefSeq Acc Id: ENSP00000509843   ⟸   ENST00000691077
RefSeq Acc Id: ENSP00000508437   ⟸   ENST00000692683
RefSeq Acc Id: ENSP00000509016   ⟸   ENST00000685763
RefSeq Acc Id: ENSP00000508681   ⟸   ENST00000684779
RefSeq Acc Id: ENSP00000510309   ⟸   ENST00000693150
RefSeq Acc Id: ENSP00000509534   ⟸   ENST00000692487
RefSeq Acc Id: NP_001397994   ⟸   NM_001411065
- Peptide Label: isoform 2
- UniProtKB: A0A8I5KYS7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234419   ⟸   XM_054378444
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054234418   ⟸   XM_054378443
- Peptide Label: isoform X1
- UniProtKB: B4DFY5 (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, UniProtKB/TrEMBL
Ensembl Transcript ENST00000307102 ENTREZGENE
  ENST00000307102.10 UniProtKB/Swiss-Prot
  ENST00000566326.1 UniProtKB/TrEMBL
  ENST00000684779.1 UniProtKB/TrEMBL
  ENST00000685172.1 UniProtKB/TrEMBL
  ENST00000685763.1 UniProtKB/TrEMBL
  ENST00000686347.1 UniProtKB/TrEMBL
  ENST00000689951.1 UniProtKB/TrEMBL
  ENST00000691077.1 UniProtKB/TrEMBL
  ENST00000691576.1 UniProtKB/TrEMBL
  ENST00000691937.1 UniProtKB/TrEMBL
  ENST00000692487.1 UniProtKB/TrEMBL
  ENST00000692683 ENTREZGENE
  ENST00000692683.1 UniProtKB/TrEMBL
  ENST00000693150 ENTREZGENE
  ENST00000693150.1 UniProtKB/TrEMBL
Gene3D-CATH Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000169032 GTEx
HGNC ID HGNC:6840 ENTREZGENE
Human Proteome Map MAP2K1 Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5604 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5604 ENTREZGENE
OMIM 176872 OMIM
PANTHER DUAL SPECIFICITY MITOGEN-ACTIVATED PROTEIN KINASE KINASE DSOR1-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB MAP2K1 RGD, PharmGKB
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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