EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) - Rat Genome Database

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Gene: EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) Homo sapiens
Analyze
Symbol: EZH2
Name: enhancer of zeste 2 polycomb repressive complex 2 subunit
RGD ID: 1312683
HGNC Page HGNC:3527
Description: Enables several functions, including nucleic acid binding activity; promoter-specific chromatin binding activity; and transcription corepressor binding activity. Involved in several processes, including negative regulation of macromolecule biosynthetic process; positive regulation of cell cycle G1/S phase transition; and regulation of intracellular signal transduction. Located in chromatin; chromosome, telomeric region; and nucleoplasm. Part of ESC/E(Z) complex. Is active in chromosome. Implicated in several diseases, including Weaver syndrome; gastrointestinal system cancer (multiple); glioblastoma; hematologic cancer (multiple); and renal Wilms' tumor. Biomarker of several diseases, including abdominal aortic aneurysm; colorectal adenoma; gastrointestinal system cancer (multiple); hematologic cancer (multiple); and respiratory system cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: enhancer of zeste 2; enhancer of zeste homolog 2; ENX-1; ENX1; EZH1; EZH2b; histone-lysine N-methyltransferase EZH2; KMT6; KMT6A; lysine N-methyltransferase 6; MGC9169; WVS; WVS2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: EZH2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387148,807,383 - 148,884,291 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7148,807,257 - 148,884,321 (-)EnsemblGRCh38hg38GRCh38
GRCh377148,504,475 - 148,581,383 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367148,135,408 - 148,212,347 (-)NCBINCBI36Build 36hg18NCBI36
Build 347147,942,122 - 148,019,062NCBI
Celera7143,174,898 - 143,251,832 (-)NCBICelera
Cytogenetic Map7q36.1NCBI
HuRef7142,583,460 - 142,659,958 (-)NCBIHuRef
CHM1_17148,512,861 - 148,589,845 (-)NCBICHM1_1
T2T-CHM13v2.07149,989,157 - 150,066,070 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27147,842,417 - 147,919,393 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
abdominal aortic aneurysm  (IEP)
acute lymphoblastic leukemia  (ISS)
acute megakaryocytic leukemia  (IAGP)
acute myeloid leukemia  (IAGP,IEP,ISO)
B-cell lymphoma  (IMP,ISO,ISS)
Breast Neoplasms  (EXP)
cholangiocarcinoma  (IAGP)
Chromosome Breakage  (EXP)
chronic myeloid leukemia  (IEP)
chronic myelomonocytic leukemia  (IAGP)
colon cancer  (IEP)
colorectal adenocarcinoma  (IAGP)
colorectal adenoma  (IEP)
colorectal cancer  (HEP,IAGP,IEP)
colorectal carcinoma  (IEP)
Congenital Upper Extremity Deformities  (EXP)
congestive heart failure  (IAGP)
cortical dysplasia-focal epilepsy syndrome  (IAGP)
COVID-19  (HEP)
craniosynostosis  (EXP)
diffuse large B-cell lymphoma  (EXP,IEP)
Endometrial Neoplasms  (EXP)
endometriosis  (ISO)
esophagus squamous cell carcinoma  (IEP)
Experimental Colitis  (ISO)
Experimental Diabetes Mellitus  (ISO)
follicular lymphoma  (EXP)
genetic disease  (IAGP)
glioblastoma  (IMP)
hepatocellular carcinoma  (EXP,IAGP,IEP)
Hereditary Neoplastic Syndromes  (IAGP)
invasive ductal carcinoma  (IEP)
juvenile myelomonocytic leukemia  (EXP)
Kidney Reperfusion Injury  (ISO)
Left Ventricular Hypertrophy  (ISO)
leiomyoma  (ISO)
lung adenocarcinoma  (IEP)
lung cancer  (IAGP)
lung non-small cell carcinoma  (HEP,IEP)
lymphoma  (IAGP)
malignant pleural mesothelioma  (IEP)
metabolic dysfunction-associated steatotic liver disease  (ISO)
myelodysplastic syndrome  (EXP,IAGP,IEP)
myelodysplastic/myeloproliferative neoplasm  (EXP,ISO)
myelofibrosis  (EXP,IAGP)
myeloid leukemia associated with Down Syndrome  (EXP)
myeloid neoplasm  (ISO)
nasopharynx carcinoma  (IEP)
Neoplasm Metastasis  (IEP,IMP)
Neoplastic Cell Transformation  (EXP)
Neurodevelopmental Disorders  (IAGP)
non-Hodgkin lymphoma  (IAGP)
oral squamous cell carcinoma  (IAGP,IEP)
osteosarcoma  (EXP,IMP)
Ovarian Neoplasms  (EXP)
pancreatic cancer  (ISO)
Peritoneal Adhesions  (ISO)
prostate cancer  (IEP)
Prostatic Neoplasms  (EXP)
renal Wilms' tumor  (IMP)
skin melanoma  (IAGP)
stomach cancer  (IAGP,IEP,IMP)
T-cell acute lymphoblastic leukemia  (ISO)
Transplant Rejection  (ISO)
urinary bladder cancer  (IEP)
Weaver syndrome  (EXP,IAGP,ISS)
Weight Gain  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-Eudesmin  (EXP)
1,1-dichloroethene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-methylcholine  (EXP)
2-palmitoylglycerol  (EXP)
4-\{[4-(dimethylamino)phenyl]diazenyl\}phenyl-beta-lactoside  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
8-Br-cAMP  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
allethrin  (ISO)
andrographolide  (EXP,ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bucladesine  (EXP)
buta-1,3-diene  (ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
CGP 52608  (EXP)
chlordecone  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
clorgyline  (EXP)
clothianidin  (EXP)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
corticosterone  (ISO)
coumarin  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (EXP,ISO)
dioxygen  (EXP)
doxorubicin  (EXP)
doxycycline  (EXP)
endosulfan  (EXP,ISO)
Enterolactone  (EXP)
enzalutamide  (EXP)
ethanol  (EXP,ISO)
fenvalerate  (ISO)
formaldehyde  (EXP,ISO)
FR900359  (EXP)
genistein  (ISO)
geraniol  (EXP)
glycerol 2-phosphate  (EXP)
GSK343  (EXP)
heptachlor  (ISO)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
ibuprofen  (ISO)
ketamine  (ISO)
ketoconazole  (ISO)
L-ascorbic acid  (EXP)
lead(0)  (EXP,ISO)
lipopolysaccharide  (EXP)
lucanthone  (EXP)
medroxyprogesterone acetate  (EXP)
menadione  (EXP)
methapyrilene  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylazoxymethanol  (ISO)
methylmercury chloride  (EXP)
morphine  (ISO)
myo-inositol hexakisphosphate  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
palbociclib  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
piroxicam  (EXP)
potassium dichromate  (EXP)
progesterone  (EXP)
pyrethrins  (ISO)
quercetin  (EXP)
resveratrol  (EXP,ISO)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
Soman  (ISO)
sorafenib  (EXP)
stattic  (EXP)
streptozocin  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (EXP,ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
Triptolide  (EXP)
triptonide  (ISO)
troglitazone  (EXP)
trovafloxacin  (ISO)
urethane  (EXP,ISO)
valproic acid  (EXP,ISO)
vemurafenib  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
B cell differentiation  (IEA)
cardiac muscle hypertrophy in response to stress  (IEA,ISO)
cellular response to hydrogen peroxide  (IEA,ISO)
cellular response to trichostatin A  (IEA,ISO)
cerebellar cortex development  (IEA,ISO)
chromatin organization  (IEA,TAS)
chromatin remodeling  (IEA)
DNA methylation-dependent constitutive heterochromatin formation  (IEA,ISO)
epidermal cell differentiation  (IEA,ISO)
facultative heterochromatin formation  (IEA)
G1 to G0 transition  (IEA,ISO)
G1/S transition of mitotic cell cycle  (IEA,ISO)
hemopoiesis  (IEA)
hepatocyte homeostasis  (IEA,ISO)
heterochromatin formation  (IBA)
hippocampus development  (IEA,ISO)
keratinocyte differentiation  (IEA,ISO)
liver regeneration  (IEA,ISO)
methylation  (IEA)
negative regulation of cytokine production involved in inflammatory response  (IEA,ISO)
negative regulation of DNA-binding transcription factor activity  (ISO)
negative regulation of DNA-templated transcription  (IMP)
negative regulation of epidermal cell differentiation  (IEA,ISO)
negative regulation of G1/S transition of mitotic cell cycle  (IEA,ISO)
negative regulation of gene expression  (IEA,ISO)
negative regulation of gene expression, epigenetic  (IDA,IMP,TAS)
negative regulation of keratinocyte differentiation  (IEA,ISO)
negative regulation of retinoic acid receptor signaling pathway  (IMP)
negative regulation of stem cell differentiation  (IEA,ISO)
negative regulation of striated muscle cell differentiation  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IDA,IEA,ISO)
negative regulation of transcription elongation by RNA polymerase II  (IEA,ISO)
positive regulation of cell cycle G1/S phase transition  (IMP)
positive regulation of cell migration  (IDA)
positive regulation of cell population proliferation  (IMP)
positive regulation of dendrite development  (IEA,ISO)
positive regulation of epithelial to mesenchymal transition  (IDA)
positive regulation of GTPase activity  (IDA)
positive regulation of MAP kinase activity  (IDA)
positive regulation of protein serine/threonine kinase activity  (IDA)
protein localization to chromatin  (IEA,ISO)
protein modification process  (IEA,ISO)
regulation of cell population proliferation  (IEA,ISO)
regulation of circadian rhythm  (IEA,IMP)
regulation of DNA-templated transcription  (TAS)
regulation of gene expression  (IEA,ISO)
regulation of gliogenesis  (IEA,ISO)
regulation of kidney development  (IEA,ISO)
regulation of neurogenesis  (IEA,ISO)
regulation of protein phosphorylation  (ISO)
regulation of transcription by RNA polymerase II  (IEA,ISO)
regulatory ncRNA-mediated heterochromatin formation  (IGI)
response to estradiol  (IEA,ISO)
response to tetrachloromethane  (IEA,ISO)
rhythmic process  (IEA)
skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration  (IEA,ISO)
stem cell differentiation  (IEA,ISO)
subtelomeric heterochromatin formation  (IGI)
synaptic transmission, GABAergic  (IEA,ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal megakaryocyte morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormally low-pitched voice  (IAGP)
Absent septum pellucidum  (IAGP)
Accelerated skeletal maturation  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Broad foot  (IAGP)
Broad forehead  (IAGP)
Broad thumb  (IAGP)
Calcaneovalgus deformity  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Cerebellar hypoplasia  (IAGP)
Clinodactyly  (IAGP)
Coxa valga  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous melanoma  (IAGP)
Cutis laxa  (IAGP)
Deep philtrum  (IAGP)
Deep-set nails  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Diastasis recti  (IAGP)
Dimple chin  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dysarthria  (IAGP)
Dysharmonic skeletal maturation  (IAGP)
Epicanthus  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fetal onset  (IAGP)
Fine hair  (IAGP)
Finger syndactyly  (IAGP)
Flared femoral metaphysis  (IAGP)
Flared humeral metaphysis  (IAGP)
Flat occiput  (IAGP)
Generalized hypotonia  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
Hoarse cry  (IAGP)
Hoarse voice  (IAGP)
Hydrocele testis  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplastic iliac wing  (IAGP)
Hypoplastic toenails  (IAGP)
Hypotonia  (IAGP)
Increased megakaryocyte count  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Inverted nipples  (IAGP)
Joint contracture of the hand  (IAGP)
Joint hypermobility  (IAGP)
Joint stiffness  (IAGP)
Kyphosis  (IAGP)
Large hands  (IAGP)
Lateral ventricle dilatation  (IAGP)
Limited elbow extension  (IAGP)
Limited knee extension  (IAGP)
Long philtrum  (IAGP)
Lymphoma  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Mandibular prognathia  (IAGP)
Melanocytic nevus  (IAGP)
Metatarsus adductus  (IAGP)
Micrognathia  (IAGP)
Non-Hodgkin lymphoma  (IAGP)
Overgrowth  (IAGP)
Overlapping toe  (IAGP)
Patent ductus arteriosus  (IAGP)
Pes cavus  (IAGP)
Polyphagia  (IAGP)
Poor fine motor coordination  (IAGP)
Posteriorly rotated ears  (IAGP)
Postural instability  (IAGP)
Prominent fingertip pads  (IAGP)
Radial deviation of finger  (IAGP)
Redundant skin  (IAGP)
Retrognathia  (IAGP)
Round face  (IAGP)
Sandal gap  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short fourth metatarsal  (IAGP)
Short ribs  (IAGP)
Single transverse palmar crease  (IAGP)
Slurred speech  (IAGP)
Sparse hair  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Talipes equinovarus  (IAGP)
Tall stature  (IAGP)
Thin nail  (IAGP)
Toe clinodactyly  (IAGP)
Umbilical hernia  (IAGP)
Ventriculomegaly  (IAGP)
Wide distal femoral metaphysis  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Modified Adenovirus Reduces De Novo Peritoneal Adhesions in Rats and Limits Off-Target Transfection. Role of EZH2 in Adhesion Formation. Atta HM, etal., J Invest Surg. 2017 Apr;30(2):78-87. doi: 10.1080/08941939.2016.1229366. Epub 2016 Oct 3.
2. EZH2 protein expression associates with the early pathogenesis, tumor progression, and prognosis of non-small cell lung carcinoma. Behrens C, etal., Clin Cancer Res. 2013 Dec 1;19(23):6556-65. doi: 10.1158/1078-0432.CCR-12-3946. Epub 2013 Oct 4.
3. Validation of a prognostic model and the impact of mutations in patients with lower-risk myelodysplastic syndromes. Bejar R, etal., J Clin Oncol. 2012 Sep 20;30(27):3376-82. doi: 10.1200/JCO.2011.40.7379. Epub 2012 Aug 6.
4. Histone lysine methylation dynamics: establishment, regulation, and biological impact. Black JC, etal., Mol Cell. 2012 Nov 30;48(4):491-507. doi: 10.1016/j.molcel.2012.11.006.
5. EZH2 is downstream of the pRB-E2F pathway, essential for proliferation and amplified in cancer. Bracken AP, etal., EMBO J. 2003 Oct 15;22(20):5323-35.
6. EZH2 promotes malignant phenotypes and is a predictor of oral cancer development in patients with oral leukoplakia. Cao W, etal., Cancer Prev Res (Phila). 2011 Nov;4(11):1816-24. doi: 10.1158/1940-6207.CAPR-11-0130. Epub 2011 Jun 22.
7. EZH2 promotes malignant behaviors via cell cycle dysregulation and its mRNA level associates with prognosis of patient with non-small cell lung cancer. Cao W, etal., PLoS One. 2012;7(12):e52984. doi: 10.1371/journal.pone.0052984. Epub 2012 Dec 31.
8. Enhancer of zeste homolog 2 expression is associated with tumor cell proliferation and metastasis in gastric cancer. Choi JH, etal., APMIS. 2010 Mar;118(3):196-202. doi: 10.1111/j.1600-0463.2009.02579.x.
9. An EZH2 polymorphism is associated with clinical outcome in metastatic colorectal cancer patients. Crea F, etal., Ann Oncol. 2012 May;23(5):1207-1213. doi: 10.1093/annonc/mdr387. Epub 2011 Sep 16.
10. Expression of EZH2 and Ki-67 in colorectal cancer and associations with treatment response and prognosis. Fluge Ø, etal., Br J Cancer. 2009 Oct 20;101(8):1282-9. doi: 10.1038/sj.bjc.6605333. Epub 2009 Sep 22.
11. RAS oncogenic signal upregulates EZH2 in pancreatic cancer. Fujii S, etal., Biochem Biophys Res Commun. 2012 Jan 20;417(3):1074-9. doi: 10.1016/j.bbrc.2011.12.099. Epub 2011 Dec 26.
12. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
13. Environmental estrogens differentially engage the histone methyltransferase EZH2 to increase risk of uterine tumorigenesis. Greathouse KL, etal., Mol Cancer Res. 2012 Apr;10(4):546-57. doi: 10.1158/1541-7786.MCR-11-0605.
14. Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in >80% of patients with TET2 and EZH2 being of high prognostic relevance. Grossmann V, etal., Leukemia. 2011 May;25(5):877-9. doi: 10.1038/leu.2011.10. Epub 2011 Feb 22.
15. EZH2 mutational status predicts poor survival in myelofibrosis. Guglielmelli P, etal., Blood. 2011 Nov 10;118(19):5227-34. doi: 10.1182/blood-2011-06-363424. Epub 2011 Sep 14.
16. Targeting protein lysine methylation and demethylation in cancers. He Y, etal., Acta Biochim Biophys Sin (Shanghai). 2012 Jan;44(1):70-9. doi: 10.1093/abbs/gmr109.
17. Ectopic expression of the histone methyltransferase Ezh2 in haematopoietic stem cells causes myeloproliferative disease. Herrera-Merchan A, etal., Nat Commun. 2012 Jan 10;3:623. doi: 10.1038/ncomms1623.
18. Enhancer of zeste homolog 2 overexpression in nasopharyngeal carcinoma: an independent poor prognosticator that enhances cell growth. Hwang CF, etal., Int J Radiat Oncol Biol Phys. 2012 Feb 1;82(2):597-604. doi: 10.1016/j.ijrobp.2010.11.062. Epub 2011 Feb 6.
19. Polycomb repressor complex-2 is a novel target for mesothelioma therapy. Kemp CD, etal., Clin Cancer Res. 2012 Jan 1;18(1):77-90. doi: 10.1158/1078-0432.CCR-11-0962. Epub 2011 Oct 25.
20. Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality. Kiefer KC, etal., ESC Heart Fail. 2021 Jun;8(3):1873-1884. doi: 10.1002/ehf2.13297. Epub 2021 Mar 28.
21. Epigenetic changes in renal genes dysregulated in mouse and rat models of type 1 diabetes. Komers R, etal., Lab Invest. 2013 May;93(5):543-52. doi: 10.1038/labinvest.2013.47. Epub 2013 Mar 18.
22. The relationship between EZH2 expression and microRNA-31 in colorectal cancer and the role in evolution of the serrated pathway. Kurihara H, etal., Oncotarget. 2016 Mar 15;7(11):12704-17. doi: 10.18632/oncotarget.7260.
23. Polycomb repressive complex 2 (PRC2) suppresses Emu-myc lymphoma. Lee SC, etal., Blood. 2013 Oct 10;122(15):2654-63. doi: 10.1182/blood-2013-02-484055. Epub 2013 Aug 27.
24. DAB2IP Expression in Abdominal Aortic Aneurysm: EZH2 and mir-363-3p as Potential Mediators. Legaki E, etal., In Vivo. 2019 May-Jun;33(3):737-742. doi: 10.21873/invivo.11533.
25. Inhibition of histone methyltransferase EZH2 ameliorates early acute renal allograft rejection in rats. Li L, etal., BMC Immunol. 2016 Oct 26;17(1):41. doi: 10.1186/s12865-016-0179-3.
26. EZH2 overexpression in primary gastrointestinal diffuse large B-cell lymphoma and its association with the clinicopathological features. Liu Y, etal., Hum Pathol. 2017 Jun;64:213-221. doi: 10.1016/j.humpath.2017.04.011. Epub 2017 Apr 22.
27. Discovery of EBI-2511: A Highly Potent and Orally Active EZH2 Inhibitor for the Treatment of Non-Hodgkin's Lymphoma. Lu B, etal., ACS Med Chem Lett. 2018 Jan 29;9(2):98-102. doi: 10.1021/acsmedchemlett.7b00437. eCollection 2018 Feb 8.
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29. Expression of the enhancer of zeste homolog 2 is correlated with poor prognosis in human gastric cancer. Matsukawa Y, etal., Cancer Sci. 2006 Jun;97(6):484-91. doi: 10.1111/j.1349-7006.2006.00203.x.
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PMID:28681918   PMID:28696078   PMID:28722764   PMID:28738014   PMID:28739498   PMID:28747286   PMID:28748258   PMID:28754964   PMID:28759046   PMID:28775165   PMID:28785086   PMID:28795320  
PMID:28810932   PMID:28813519   PMID:28813705   PMID:28826853   PMID:28832071   PMID:28835384   PMID:28854977   PMID:28862715   PMID:28899973   PMID:28902349   PMID:28914785   PMID:28923203  
PMID:28923852   PMID:28925391   PMID:28935763   PMID:28939884   PMID:28940253   PMID:28946213   PMID:28963737   PMID:28967906   PMID:28970725   PMID:28973837   PMID:29022920   PMID:29026152  
PMID:29035360   PMID:29035367   PMID:29045832   PMID:29046366   PMID:29048683   PMID:29053336   PMID:29087303   PMID:29089464   PMID:29091973   PMID:29127861   PMID:29130642   PMID:29132376  
PMID:29141691   PMID:29161520   PMID:29169732   PMID:29174711   PMID:29185157   PMID:29185984   PMID:29193797   PMID:29202477   PMID:29202777   PMID:29207119   PMID:29212856   PMID:29221985  
PMID:29248547   PMID:29263092   PMID:29270748   PMID:29272522   PMID:29275295   PMID:29286132   PMID:29294297   PMID:29316949   PMID:29321554   PMID:29335012   PMID:29344674   PMID:29351847  
PMID:29358618   PMID:29359794   PMID:29371630   PMID:29393360   PMID:29394319   PMID:29396474   PMID:29408583   PMID:29415665   PMID:29416002   PMID:29425303   PMID:29438697   PMID:29445179  
PMID:29479874   PMID:29487009   PMID:29489508   PMID:29501388   PMID:29507419   PMID:29530475   PMID:29530751   PMID:29532870   PMID:29555646   PMID:29557496   PMID:29575713   PMID:29581297  
PMID:29628311   PMID:29630085   PMID:29630768   PMID:29654889   PMID:29669287   PMID:29674685   PMID:29689244   PMID:29705809   PMID:29710537   PMID:29726819   PMID:29743723   PMID:29748098  
PMID:29759640   PMID:29768655   PMID:29789597   PMID:29789713   PMID:29790898   PMID:29793547   PMID:29803673   PMID:29846670   PMID:29848731   PMID:29852354   PMID:29858685   PMID:29859193  
PMID:29870057   PMID:29896299   PMID:29909548   PMID:29940916   PMID:29941599   PMID:29959321   PMID:29972783   PMID:29982334   PMID:29992318   PMID:30004110   PMID:30008323   PMID:30022044  
PMID:30026490   PMID:30031020   PMID:30031062   PMID:30038060   PMID:30051352   PMID:30066891   PMID:30071900   PMID:30072740   PMID:30093632   PMID:30105513   PMID:30105866   PMID:30106089  
PMID:30112706   PMID:30119259   PMID:30120321   PMID:30131250   PMID:30150059   PMID:30151890   PMID:30166592   PMID:30213970   PMID:30218753   PMID:30258009   PMID:30266084   PMID:30280514  
PMID:30282996   PMID:30304920   PMID:30305602   PMID:30314898   PMID:30342849   PMID:30343006   PMID:30353102   PMID:30367633   PMID:30374835   PMID:30389560   PMID:30397178   PMID:30404791  
PMID:30408551   PMID:30419336   PMID:30420287   PMID:30425057   PMID:30458017   PMID:30469511   PMID:30487153   PMID:30487290   PMID:30510991   PMID:30517868   PMID:30527357   PMID:30539787  
PMID:30542123   PMID:30551433   PMID:30569799   PMID:30578411   PMID:30593723   PMID:30621625   PMID:30622230   PMID:30628724   PMID:30632221   PMID:30649914   PMID:30655550   PMID:30677405  
PMID:30692641   PMID:30692681   PMID:30700785   PMID:30710146   PMID:30716533   PMID:30723117   PMID:30728347   PMID:30747066   PMID:30755708   PMID:30760814   PMID:30779601   PMID:30786928  
PMID:30804502   PMID:30809307   PMID:30811870   PMID:30844722   PMID:30853334   PMID:30858506   PMID:30867289   PMID:30868890   PMID:30879952   PMID:30883033   PMID:30884312   PMID:30885343  
PMID:30891497   PMID:30903272   PMID:30912166   PMID:30923826   PMID:30952377   PMID:30967505   PMID:30968962   PMID:30971429   PMID:31002139   PMID:31004581   PMID:31020497   PMID:31023785  
PMID:31036541   PMID:31037158   PMID:31042721   PMID:31053162   PMID:31071316   PMID:31081092   PMID:31087496   PMID:31091453   PMID:31092221   PMID:31096221   PMID:31097223   PMID:31104332  
PMID:31106974   PMID:31126817   PMID:31130994   PMID:31138033   PMID:31140859   PMID:31180543   PMID:31197517   PMID:31204938   PMID:31216925   PMID:31219209   PMID:31253590   PMID:31256157  
PMID:31273190   PMID:31273598   PMID:31273925   PMID:31281901   PMID:31282094   PMID:31285428   PMID:31305292   PMID:31317325   PMID:31331645   PMID:31331874   PMID:31332986   PMID:31352449  
PMID:31363169   PMID:31366503   PMID:31368152   PMID:31376657   PMID:31383940   PMID:31389610   PMID:31391242   PMID:31408621   PMID:31413097   PMID:31424661   PMID:31431463   PMID:31434700  
PMID:31468686   PMID:31476446   PMID:31479715   PMID:31497936   PMID:31515488   PMID:31518916   PMID:31527584   PMID:31527615   PMID:31545422   PMID:31557401   PMID:31562203   PMID:31582742  
PMID:31582835   PMID:31617275   PMID:31631027   PMID:31636385   PMID:31640461   PMID:31642440   PMID:31646568   PMID:31661141   PMID:31666665   PMID:31669648   PMID:31693890   PMID:31704732  
PMID:31704857   PMID:31718595   PMID:31724824   PMID:31727135   PMID:31732666   PMID:31747378   PMID:31747604   PMID:31751560   PMID:31773700   PMID:31784651   PMID:31786184   PMID:31794134  
PMID:31811272   PMID:31823218   PMID:31841965   PMID:31842978   PMID:31843273   PMID:31846764   PMID:31855281   PMID:31858557   PMID:31860165   PMID:31861475   PMID:31866294   PMID:31871160  
PMID:31886200   PMID:31891591   PMID:31894346   PMID:31904978   PMID:31910305   PMID:31914379   PMID:31917284   PMID:31943751   PMID:31948940   PMID:31952907   PMID:31953354   PMID:31968251  
PMID:31991488   PMID:32051553   PMID:32054404   PMID:32062383   PMID:32064169   PMID:32066746   PMID:32103168   PMID:32127003   PMID:32129914   PMID:32141531   PMID:32157157   PMID:32194081  
PMID:32194873   PMID:32234906   PMID:32242003   PMID:32243864   PMID:32271434   PMID:32271438   PMID:32291076   PMID:32292524   PMID:32296183   PMID:32312833   PMID:32312841   PMID:32322039  
PMID:32329150   PMID:32348690   PMID:32360600   PMID:32366675   PMID:32370988   PMID:32373959   PMID:32380038   PMID:32396861   PMID:32409309   PMID:32420685   PMID:32427989   PMID:32449315  
PMID:32453339   PMID:32457468   PMID:32460013   PMID:32474518   PMID:32483123   PMID:32522890   PMID:32533097   PMID:32537408   PMID:32538781   PMID:32552947   PMID:32595202   PMID:32619406  
PMID:32626980   PMID:32633340   PMID:32635858   PMID:32663416   PMID:32668764   PMID:32676814   PMID:32694731   PMID:32701505   PMID:32710193   PMID:32723346   PMID:32725802   PMID:32725924  
PMID:32729661   PMID:32735528   PMID:32748461   PMID:32814053   PMID:32814835   PMID:32816857   PMID:32816909   PMID:32825929   PMID:32846854   PMID:32855270   PMID:32885590   PMID:32895488  
PMID:32899608   PMID:32907838   PMID:32917647   PMID:32920200   PMID:32929617   PMID:32934212   PMID:32938196   PMID:32941921   PMID:32956422   PMID:32964984   PMID:32971831   PMID:32990923  
PMID:33001583   PMID:33009487   PMID:33011750   PMID:33026112   PMID:33035457   PMID:33057161   PMID:33063698   PMID:33068867   PMID:33069730   PMID:33091189   PMID:33092789   PMID:33156908  
PMID:33177650   PMID:33180829   PMID:33187138   PMID:33197837   PMID:33205541   PMID:33207561   PMID:33207890   PMID:33208750   PMID:33215433   PMID:33226554   PMID:33230143   PMID:33233721  
PMID:33246425   PMID:33268767   PMID:33277782   PMID:33283749   PMID:33288562   PMID:33290872   PMID:33293663   PMID:33296708   PMID:33299646   PMID:33299862   PMID:33301849   PMID:33313943  
PMID:33331071   PMID:33336896   PMID:33357908   PMID:33389794   PMID:33391480   PMID:33408782   PMID:33416105   PMID:33479123   PMID:33531586   PMID:33546582   PMID:33550923   PMID:33556366  
PMID:33559868   PMID:33589600   PMID:33589750   PMID:33664859   PMID:33692439   PMID:33709190   PMID:33712646   PMID:33721449   PMID:33748276   PMID:33754075   PMID:33761351   PMID:33788986  
PMID:33795875   PMID:33800594   PMID:33803922   PMID:33821477   PMID:33845873   PMID:33849069   PMID:33879635   PMID:33901010   PMID:33961781   PMID:33966039   PMID:33978549   PMID:34015321  
PMID:34031939   PMID:34044429   PMID:34067359   PMID:34076983   PMID:34079125   PMID:34087994   PMID:34102285   PMID:34115196   PMID:34115825   PMID:34140011   PMID:34140643   PMID:34160745  
PMID:34195851   PMID:34210752   PMID:34217898   PMID:34257556   PMID:34273373   PMID:34288823   PMID:34307682   PMID:34325277   PMID:34349018   PMID:34376807   PMID:34405442   PMID:34405537  
PMID:34425630   PMID:34478526   PMID:34493171   PMID:34493753   PMID:34509612   PMID:34510715   PMID:34512145   PMID:34518534   PMID:34519570   PMID:34537772   PMID:34545456   PMID:34551671  
PMID:34564701   PMID:34591612   PMID:34614148   PMID:34614259   PMID:34617573   PMID:34619150   PMID:34653429   PMID:34655667   PMID:34663788   PMID:34666800   PMID:34668273   PMID:34706521  
PMID:34739394   PMID:34766670   PMID:34780483   PMID:34789568   PMID:34802040   PMID:34811354   PMID:34815475   PMID:34820775   PMID:34825659   PMID:34825669   PMID:34851506   PMID:34857732  
PMID:34906772   PMID:34915417   PMID:34919637   PMID:34921745   PMID:34967593   PMID:35013218   PMID:35016035   PMID:35031563   PMID:35032074   PMID:35048632   PMID:35083555   PMID:35085106  
PMID:35085770   PMID:35094010   PMID:35163710   PMID:35181615   PMID:35182680   PMID:35184652   PMID:35188401   PMID:35193055   PMID:35197928   PMID:35210568   PMID:35245884   PMID:35256949  
PMID:35257481   PMID:35271311   PMID:35303175   PMID:35346226   PMID:35380993   PMID:35414117   PMID:35504958   PMID:35509134   PMID:35523402   PMID:35537449   PMID:35538070   PMID:35559404  
PMID:35596973   PMID:35604910   PMID:35609316   PMID:35627262   PMID:35636260   PMID:35659256   PMID:35661922   PMID:35680984   PMID:35682829   PMID:35795677   PMID:35804015   PMID:35813302  
PMID:35818168   PMID:35864175   PMID:35933601   PMID:35939884   PMID:35960849   PMID:35970825   PMID:36029259   PMID:36038549   PMID:36048167   PMID:36050791   PMID:36053032   PMID:36057370  
PMID:36071871   PMID:36086687   PMID:36087568   PMID:36089195   PMID:36094360   PMID:36104682   PMID:36127410   PMID:36129843   PMID:36179694   PMID:36191822   PMID:36195655   PMID:36215168  
PMID:36220978   PMID:36239569   PMID:36271224   PMID:36274363   PMID:36300627   PMID:36305789   PMID:36309370   PMID:36309571   PMID:36316365   PMID:36358967   PMID:36403545   PMID:36446780  
PMID:36449143   PMID:36456043   PMID:36464274   PMID:36476271   PMID:36517590   PMID:36524678   PMID:36545914   PMID:36552722   PMID:36564076   PMID:36619221   PMID:36622753   PMID:36629984  
PMID:36708555   PMID:36718085   PMID:36724065   PMID:36738498   PMID:36768289   PMID:36813772   PMID:36820722   PMID:36858198   PMID:36877334   PMID:36897808   PMID:36946271   PMID:36961398  
PMID:36973442   PMID:36974822   PMID:37001595   PMID:37002234   PMID:37021526   PMID:37029114   PMID:37037414   PMID:37037595   PMID:37069142   PMID:37071682   PMID:37140546   PMID:37147437  
PMID:37148376   PMID:37157015   PMID:37175580   PMID:37198149   PMID:37198697   PMID:37207700   PMID:37210576   PMID:37212947   PMID:37222221   PMID:37225847   PMID:37249558   PMID:37311441  
PMID:37353042   PMID:37458071   PMID:37467626   PMID:37475584   PMID:37491334   PMID:37498408   PMID:37553330   PMID:37598282   PMID:37619672   PMID:37644332   PMID:37710230   PMID:37726387  
PMID:37762082   PMID:37787267   PMID:37800319   PMID:37803297   PMID:37851112   PMID:37862922   PMID:37889101   PMID:37951195   PMID:37990130   PMID:38008711   PMID:38030172   PMID:38031139  
PMID:38048186   PMID:38072134   PMID:38114929   PMID:38146588   PMID:38155599   PMID:38199479   PMID:38220465   PMID:38244292   PMID:38245345   PMID:38265267   PMID:38266459   PMID:38305289  
PMID:38309675   PMID:38331087   PMID:38393645   PMID:38460798   PMID:38461243   PMID:38477804   PMID:38574630   PMID:38652219   PMID:38665021   PMID:38672463   PMID:38677505   PMID:38678670  
PMID:38777146   PMID:38842201   PMID:38862595   PMID:38871245   PMID:38884152   PMID:38884661   PMID:38923455   PMID:39013911   PMID:39043634   PMID:39118123   PMID:39174513   PMID:39358471  
PMID:39390614  


Genomics

Comparative Map Data
EZH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387148,807,383 - 148,884,291 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7148,807,257 - 148,884,321 (-)EnsemblGRCh38hg38GRCh38
GRCh377148,504,475 - 148,581,383 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367148,135,408 - 148,212,347 (-)NCBINCBI36Build 36hg18NCBI36
Build 347147,942,122 - 148,019,062NCBI
Celera7143,174,898 - 143,251,832 (-)NCBICelera
Cytogenetic Map7q36.1NCBI
HuRef7142,583,460 - 142,659,958 (-)NCBIHuRef
CHM1_17148,512,861 - 148,589,845 (-)NCBICHM1_1
T2T-CHM13v2.07149,989,157 - 150,066,070 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27147,842,417 - 147,919,393 (-)NCBI
Ezh2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39647,507,208 - 47,613,843 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl647,507,073 - 47,572,275 (-)EnsemblGRCm39 Ensembl
GRCm38647,530,274 - 47,595,270 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl647,530,139 - 47,595,341 (-)EnsemblGRCm38mm10GRCm38
MGSCv37647,480,273 - 47,545,029 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36647,459,867 - 47,524,606 (-)NCBIMGSCv36mm8
Celera647,385,379 - 47,451,063 (-)NCBICelera
Cytogenetic Map6B2.3NCBI
cM Map622.92NCBI
Ezh2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8477,624,223 - 77,698,598 (-)NCBIGRCr8
mRatBN7.2476,624,399 - 76,687,362 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl476,624,399 - 76,687,362 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx481,590,638 - 81,653,503 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0477,503,983 - 77,566,865 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0475,884,156 - 75,947,036 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0477,284,404 - 77,347,011 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl477,284,404 - 77,347,011 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04141,955,864 - 142,018,471 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4475,709,959 - 75,773,279 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera471,429,142 - 71,492,047 (-)NCBICelera
Cytogenetic Map4q24NCBI
Ezh2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554914,215,298 - 4,292,235 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554914,215,353 - 4,292,229 (-)NCBIChiLan1.0ChiLan1.0
EZH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26185,392,512 - 185,468,679 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1737,402,774 - 37,478,924 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07140,536,962 - 140,613,104 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17153,017,590 - 153,059,726 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7153,017,590 - 153,059,726 (-)Ensemblpanpan1.1panPan2
EZH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1161,926,443 - 1,991,995 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl161,925,956 - 1,991,838 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha163,025,322 - 3,090,857 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0161,730,910 - 1,796,671 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl161,754,174 - 1,796,670 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1161,717,683 - 1,783,294 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0161,577,046 - 1,642,624 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0161,581,164 - 1,646,809 (+)NCBIUU_Cfam_GSD_1.0
Ezh2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244051187,804,044 - 7,879,353 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365275,024,068 - 5,063,939 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365275,024,077 - 5,069,152 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EZH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9109,385,015 - 109,450,941 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19109,384,976 - 109,450,943 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29120,322,804 - 120,388,754 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EZH2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121117,380,518 - 117,515,224 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21117,380,361 - 117,421,573 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607213,330,068 - 13,407,159 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ezh2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248006,802,901 - 6,874,196 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248006,781,848 - 6,874,221 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EZH2
505 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004456.5(EZH2):c.158C>T (p.Thr53Met) single nucleotide variant not provided [RCV000523469] Chr7:148846558 [GRCh38]
Chr7:148543650 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2069G>A (p.Arg690His) single nucleotide variant not provided [RCV000521642] Chr7:148809351 [GRCh38]
Chr7:148506443 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.907+5G>A single nucleotide variant Weaver syndrome [RCV000689526]|not provided [RCV001531064] Chr7:148826449 [GRCh38]
Chr7:148523541 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_004456.5(EZH2):c.457_459del (p.Tyr153del) deletion Weaver syndrome [RCV000023117] Chr7:148829753..148829755 [GRCh38]
Chr7:148526845..148526847 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_004456.5(EZH2):c.625+5G>A single nucleotide variant EZH2-related disorder [RCV004541650]|Weaver syndrome [RCV000547797]|not provided [RCV000605464] Chr7:148828735 [GRCh38]
Chr7:148525827 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_004456.5(EZH2):c.638G>A (p.Arg213His) single nucleotide variant EZH2-related disorder [RCV004537870]|Weaver syndrome [RCV000807016]|not provided [RCV000520964] Chr7:148827254 [GRCh38]
Chr7:148524346 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_004456.5(EZH2):c.2080C>T (p.His694Tyr) single nucleotide variant Weaver syndrome [RCV000023118] Chr7:148809340 [GRCh38]
Chr7:148506432 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_004456.5(EZH2):c.394C>T (p.Pro132Ser) single nucleotide variant Weaver syndrome [RCV000023119] Chr7:148829818 [GRCh38]
Chr7:148526910 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh38/hg38 7q35-36.1(chr7:147345844-150426340)x1 copy number loss See cases [RCV000050838] Chr7:147345844..150426340 [GRCh38]
Chr7:147042936..150123428 [GRCh37]
Chr7:146673869..149754361 [NCBI36]
Chr7:7q35-36.1		 pathogenic
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1 copy number loss See cases [RCV000050750] Chr7:143884559..152674271 [GRCh38]
Chr7:143581652..152371356 [GRCh37]
Chr7:143212585..152002289 [NCBI36]
Chr7:7q35-36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1 copy number loss See cases [RCV000051108] Chr7:147250465..159325876 [GRCh38]
Chr7:146947557..159118566 [GRCh37]
Chr7:146578490..158811327 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 copy number loss See cases [RCV000054178] Chr7:143884559..159282390 [GRCh38]
Chr7:143581652..159075079 [GRCh37]
Chr7:143212585..158767840 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1 copy number loss See cases [RCV000054188] Chr7:145699944..159296617 [GRCh38]
Chr7:145397037..159089306 [GRCh37]
Chr7:145027970..158782067 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1 copy number loss See cases [RCV000054189] Chr7:148256584..152332535 [GRCh38]
Chr7:147953676..152029620 [GRCh37]
Chr7:147584609..151660553 [NCBI36]
Chr7:7q36.1		 pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
NM_004456.5(EZH2):c.1937A>T (p.Tyr646Phe) single nucleotide variant Lymphoma [RCV000430342]|Malignant melanoma of skin [RCV000440575]|Non-Hodgkin lymphoma [RCV000422926] Chr7:148811635 [GRCh38]
Chr7:148508727 [GRCh37]
Chr7:148139660 [NCBI36]
Chr7:7q36.1		 likely pathogenic|not provided
NM_004456.5(EZH2):c.1936T>C (p.Tyr646His) single nucleotide variant Lymphoma [RCV000429291]|Malignant melanoma of skin [RCV000418998]|Non-Hodgkin lymphoma [RCV000436489] Chr7:148811636 [GRCh38]
Chr7:148508728 [GRCh37]
Chr7:148139661 [NCBI36]
Chr7:7q36.1		 likely pathogenic|not provided
NM_004456.5(EZH2):c.2044G>A (p.Ala682Thr) single nucleotide variant Weaver syndrome [RCV000055900] Chr7:148809376 [GRCh38]
Chr7:148506468 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_004456.5(EZH2):c.2233G>A (p.Glu745Lys) single nucleotide variant EZH2-related disorder [RCV004537252]|Weaver syndrome [RCV000055901] Chr7:148807669 [GRCh38]
Chr7:148504761 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_004456.5(EZH2):c.2110+6T>G single nucleotide variant Weaver syndrome [RCV001514766]|not provided [RCV004712106]|not specified [RCV000145977] Chr7:148809304 [GRCh38]
Chr7:148506396 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.1240+48G>A single nucleotide variant not provided [RCV000835269]|not specified [RCV000122397] Chr7:148817829 [GRCh38]
Chr7:148514921 [GRCh37]
Chr7:7q36.1		 likely benign|not provided
NM_004456.5(EZH2):c.1240+9C>A single nucleotide variant EZH2-related disorder [RCV004542923]|Weaver syndrome [RCV000634026]|not specified [RCV000122398] Chr7:148817868 [GRCh38]
Chr7:148514960 [GRCh37]
Chr7:7q36.1		 benign|not provided
NM_004456.5(EZH2):c.1844C>T (p.Ser615Phe) single nucleotide variant not specified [RCV000120893] Chr7:148813966 [GRCh38]
Chr7:148511058 [GRCh37]
Chr7:7q36.1		 not provided
NM_004456.5(EZH2):c.1810G>A (p.Val604Met) single nucleotide variant not specified [RCV000120894] Chr7:148814000 [GRCh38]
Chr7:148511092 [GRCh37]
Chr7:7q36.1		 not provided
NM_004456.5(EZH2):c.1459G>A (p.Ala487Thr) single nucleotide variant Weaver syndrome [RCV000383637]|not specified [RCV000120895] Chr7:148816730 [GRCh38]
Chr7:148513822 [GRCh37]
Chr7:7q36.1		 benign|likely benign|not provided
NM_004456.5(EZH2):c.553G>C (p.Asp185His) single nucleotide variant Weaver syndrome [RCV001520862]|not provided [RCV004710515]|not specified [RCV000120897] Chr7:148828812 [GRCh38]
Chr7:148525904 [GRCh37]
Chr7:7q36.1		 benign|not provided
NM_004456.5(EZH2):c.848C>T (p.Thr283Met) single nucleotide variant not provided [RCV003221809]|not specified [RCV000120898] Chr7:148826513 [GRCh38]
Chr7:148523605 [GRCh37]
Chr7:7q36.1		 uncertain significance|not provided
NM_004456.5(EZH2):c.965A>G (p.Asn322Ser) single nucleotide variant Weaver syndrome [RCV000634025]|not specified [RCV000120899] Chr7:148819630 [GRCh38]
Chr7:148516722 [GRCh37]
Chr7:7q36.1		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_004456.5(EZH2):c.1181G>C (p.Gly394Ala) single nucleotide variant Weaver syndrome [RCV003611496]|not specified [RCV000120900] Chr7:148817936 [GRCh38]
Chr7:148515028 [GRCh37]
Chr7:7q36.1		 uncertain significance|not provided
NM_004456.5(EZH2):c.557ATG[3] (p.Asp189del) microsatellite Weaver syndrome [RCV002515865]|not specified [RCV000120896] Chr7:148828797..148828799 [GRCh38]
Chr7:148525889..148525891 [GRCh37]
Chr7:7q36.1		 uncertain significance|not provided
NM_004456.5(EZH2):c.485-7G>A single nucleotide variant Weaver syndrome [RCV000394534]|not specified [RCV000179440] Chr7:148828887 [GRCh38]
Chr7:148525979 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004456.5(EZH2):c.364-132CT[2] microsatellite not provided [RCV001545771] Chr7:148829975..148829976 [GRCh38]
Chr7:148527067..148527068 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1017T>C (p.Phe339=) single nucleotide variant Weaver syndrome [RCV000225902]|not provided [RCV001650996]|not specified [RCV000145969] Chr7:148818100 [GRCh38]
Chr7:148515192 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.1731G>A (p.Pro577=) single nucleotide variant Weaver syndrome [RCV000232598]|not provided [RCV001610446]|not specified [RCV000145970] Chr7:148814079 [GRCh38]
Chr7:148511171 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004456.5(EZH2):c.1852-6C>T single nucleotide variant Weaver syndrome [RCV000226375]|not provided [RCV001573808]|not specified [RCV000145971] Chr7:148811726 [GRCh38]
Chr7:148508818 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004456.5(EZH2):c.1876G>A (p.Val626Met) single nucleotide variant EZH2-related disorder [RCV001249312]|Weaver syndrome [RCV000145972] Chr7:148811696 [GRCh38]
Chr7:148508788 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_004456.5(EZH2):c.1884C>G (p.Gly628=) single nucleotide variant Weaver syndrome [RCV000145973]|not provided [RCV003992196] Chr7:148811688 [GRCh38]
Chr7:148508780 [GRCh37]
Chr7:7q36.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004456.5(EZH2):c.2028T>C (p.Asn676=) single nucleotide variant Weaver syndrome [RCV001088620]|not provided [RCV000514924]|not specified [RCV000145974] Chr7:148810334 [GRCh38]
Chr7:148507426 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004456.5(EZH2):c.2050C>T (p.Arg684Cys) single nucleotide variant EZH2-related disorder [RCV004734701]|Weaver syndrome [RCV000145975]|not provided [RCV001564091] Chr7:148809370 [GRCh38]
Chr7:148506462 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_004456.5(EZH2):c.2110+6T>C single nucleotide variant not specified [RCV000145976] Chr7:148809304 [GRCh38]
Chr7:148506396 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.2236A>G (p.Arg746Gly) single nucleotide variant Weaver syndrome [RCV000145978] Chr7:148807666 [GRCh38]
Chr7:148504758 [GRCh37]
Chr7:7q36.1		 likely pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3 copy number gain See cases [RCV000135825] Chr7:147345844..153833351 [GRCh38]
Chr7:147042936..153530436 [GRCh37]
Chr7:146673869..153161369 [NCBI36]
Chr7:7q35-36.2		 pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2		 pathogenic
GRCh38/hg38 7q35-36.1(chr7:145999194-148860586)x1 copy number loss See cases [RCV000135939] Chr7:145999194..148860586 [GRCh38]
Chr7:145696287..148557678 [GRCh37]
Chr7:145327220..148188611 [NCBI36]
Chr7:7q35-36.1		 likely pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1 copy number loss See cases [RCV000137338] Chr7:145436544..159331441 [GRCh38]
Chr7:145133637..159124131 [GRCh37]
Chr7:144764570..158816892 [NCBI36]
Chr7:7q35-36.3		 pathogenic|likely pathogenic
GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1 copy number loss See cases [RCV000138005] Chr7:145250254..159335866 [GRCh38]
Chr7:144947347..159128556 [GRCh37]
Chr7:144578280..158821317 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1 copy number loss See cases [RCV000137781] Chr7:146047157..157522158 [GRCh38]
Chr7:145744250..157314852 [GRCh37]
Chr7:145375183..157007613 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4 copy number gain See cases [RCV000138555] Chr7:143596735..150089125 [GRCh38]
Chr7:143293828..149786214 [GRCh37]
Chr7:143003950..149417147 [NCBI36]
Chr7:7q35-36.1		 likely pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1 copy number loss See cases [RCV000143503] Chr7:147144002..159327017 [GRCh38]
Chr7:146841094..159119707 [GRCh37]
Chr7:146472027..158812468 [NCBI36]
Chr7:7q35-36.3		 pathogenic
NM_004456.5(EZH2):c.118-4del deletion Weaver syndrome [RCV000229818]|not provided [RCV001573904]|not specified [RCV000194595] Chr7:148846602 [GRCh38]
Chr7:148543694 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_004456.5(EZH2):c.2187dup (p.Asp730Ter) duplication Weaver syndrome [RCV000192778]|not provided [RCV001778781] Chr7:148809078..148809079 [GRCh38]
Chr7:148506170..148506171 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_004456.5(EZH2):c.458A>G (p.Tyr153Cys) single nucleotide variant Weaver syndrome [RCV000193211] Chr7:148829754 [GRCh38]
Chr7:148526846 [GRCh37]
Chr7:7q36.1		 pathogenic|not provided
NM_004456.5(EZH2):c.149T>C (p.Leu50Ser) single nucleotide variant Weaver syndrome [RCV000204286] Chr7:148846567 [GRCh38]
Chr7:148543659 [GRCh37]
Chr7:7q36.1		 pathogenic|conflicting interpretations of pathogenicity
NM_004456.5(EZH2):c.1719C>A (p.Thr573=) single nucleotide variant EZH2-related disorder [RCV004537909]|Weaver syndrome [RCV001516344] Chr7:148814091 [GRCh38]
Chr7:148511183 [GRCh37]
Chr7:7q36.1		 benign|likely benign
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_004456.5(EZH2):c.247-15dup duplication EZH2-related disorder [RCV004532906]|Weaver syndrome [RCV000229150]|not provided [RCV001705264] Chr7:148832759..148832760 [GRCh38]
Chr7:148529851..148529852 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004456.5(EZH2):c.2007C>G (p.Ser669Arg) single nucleotide variant not provided [RCV000256045] Chr7:148810355 [GRCh38]
Chr7:148507447 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.*21del deletion Weaver syndrome [RCV001706342]|not provided [RCV001610647]|not specified [RCV000247759] Chr7:148807625 [GRCh38]
Chr7:148504717 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.728+19G>C single nucleotide variant Weaver syndrome [RCV002058165]|not provided [RCV001723851]|not specified [RCV000243443] Chr7:148827145 [GRCh38]
Chr7:148524237 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.4(EZH2):c.-138C>T single nucleotide variant Weaver syndrome [RCV000368101] Chr7:148884294 [GRCh38]
Chr7:148581386 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.234C>T (p.Arg78=) single nucleotide variant Weaver syndrome [RCV000302575] Chr7:148846482 [GRCh38]
Chr7:148543574 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1555T>C (p.Ser519Pro) single nucleotide variant EZH2-related disorder [RCV004735499]|Inborn genetic diseases [RCV002524526]|Weaver syndrome [RCV000269385] Chr7:148815031 [GRCh38]
Chr7:148512123 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_004456.5(EZH2):c.1852-9A>G single nucleotide variant Weaver syndrome [RCV000323431]|not provided [RCV001705528]|not specified [RCV000438713] Chr7:148811729 [GRCh38]
Chr7:148508821 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004456.5(EZH2):c.1281A>G (p.Pro427=) single nucleotide variant Weaver syndrome [RCV001515588] Chr7:148817351 [GRCh38]
Chr7:148514443 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_004456.5(EZH2):c.118-5_118-4del deletion Weaver syndrome [RCV000399985]|not provided [RCV003422353] Chr7:148846602..148846603 [GRCh38]
Chr7:148543694..148543695 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_004456.5(EZH2):c.87C>T (p.Leu29=) single nucleotide variant Weaver syndrome [RCV003612429] Chr7:148847212 [GRCh38]
Chr7:148544304 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_004456.4(EZH2):c.1506-4G>A single nucleotide variant Weaver syndrome [RCV000329161] Chr7:148815550 [GRCh38]
Chr7:148512642 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.625+12T>G single nucleotide variant Weaver syndrome [RCV002894913] Chr7:148828728 [GRCh38]
Chr7:148525820 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_004456.5(EZH2):c.396T>C (p.Pro132=) single nucleotide variant EZH2-related disorder [RCV004530449]|Weaver syndrome [RCV000337754]|not provided [RCV001706592] Chr7:148829816 [GRCh38]
Chr7:148526908 [GRCh37]
Chr7:7q36.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004456.5(EZH2):c.657T>C (p.Pro219=) single nucleotide variant Weaver syndrome [RCV000389465]|not provided [RCV001356024]|not specified [RCV001821092] Chr7:148827235 [GRCh38]
Chr7:148524327 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance
NM_004456.5(EZH2):c.484+13C>T single nucleotide variant Weaver syndrome [RCV001198635]|not specified [RCV000605704] Chr7:148829715 [GRCh38]
Chr7:148526807 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_004456.4(EZH2):c.-174dup duplication Weaver syndrome [RCV000274247]|not provided [RCV001534633] Chr7:148884323..148884324 [GRCh38]
Chr7:148581415..148581416 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.4(EZH2):c.-32A>C single nucleotide variant Weaver syndrome [RCV000272298] Chr7:148884188 [GRCh38]
Chr7:148581280 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2212G>A (p.Ala738Thr) single nucleotide variant not provided [RCV001760642] Chr7:148807690 [GRCh38]
Chr7:148504782 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.457T>C (p.Tyr153His) single nucleotide variant Neurodevelopmental disorder [RCV001374952] Chr7:148829755 [GRCh38]
Chr7:148526847 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.4(EZH2):c.-26G>A single nucleotide variant Weaver syndrome [RCV000362248] Chr7:148884182 [GRCh38]
Chr7:148581274 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.4(EZH2):c.*275A>G single nucleotide variant Weaver syndrome [RCV000318757] Chr7:148807371 [GRCh38]
Chr7:148504463 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.4(EZH2):c.1383G>C (p.Arg461Ser) single nucleotide variant Weaver syndrome [RCV000293900] Chr7:148817249 [GRCh38]
Chr7:148514341 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1696C>A (p.Arg566Ser) single nucleotide variant Weaver syndrome [RCV000529234] Chr7:148814114 [GRCh38]
Chr7:148511206 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.-73GCG[7] microsatellite Weaver syndrome [RCV000327415]|not provided [RCV002058657] Chr7:148884211..148884212 [GRCh38]
Chr7:148581303..148581304 [GRCh37]
Chr7:7q36.1		 benign|likely benign|uncertain significance
NM_004456.5(EZH2):c.2203C>T (p.Gln735Ter) single nucleotide variant not specified [RCV000578862] Chr7:148807699 [GRCh38]
Chr7:148504791 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.958C>G (p.Leu320Val) single nucleotide variant Inborn genetic diseases [RCV004023802]|Weaver syndrome [RCV000560349] Chr7:148819637 [GRCh38]
Chr7:148516729 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_004456.5(EZH2):c.2196-20T>C single nucleotide variant not provided [RCV004712781]|not specified [RCV000434783] Chr7:148807726 [GRCh38]
Chr7:148504818 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.2045C>G (p.Ala682Gly) single nucleotide variant Lymphoma [RCV000434252] Chr7:148809375 [GRCh38]
Chr7:148506467 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.745G>A (p.Glu249Lys) single nucleotide variant not provided [RCV000418021] Chr7:148826616 [GRCh38]
Chr7:148523708 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2232C>T (p.Ile744=) single nucleotide variant Weaver syndrome [RCV001497903]|not specified [RCV000424794] Chr7:148807670 [GRCh38]
Chr7:148504762 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1547-10C>T single nucleotide variant EZH2-related disorder [RCV004533109]|Weaver syndrome [RCV000862230]|not provided [RCV001698345] Chr7:148815049 [GRCh38]
Chr7:148512141 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_004456.5(EZH2):c.1410+19A>G single nucleotide variant Weaver syndrome [RCV003114570]|not specified [RCV000435403] Chr7:148817203 [GRCh38]
Chr7:148514295 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1506-19T>G single nucleotide variant Weaver syndrome [RCV002058938]|not specified [RCV000432279] Chr7:148815565 [GRCh38]
Chr7:148512657 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_004456.5(EZH2):c.1936T>A (p.Tyr646Asn) single nucleotide variant Lymphoma [RCV000421839]|Malignant melanoma of skin [RCV000429270]|Non-Hodgkin lymphoma [RCV000439496] Chr7:148811636 [GRCh38]
Chr7:148508728 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.1922A>C (p.Glu641Ala) single nucleotide variant Malignant melanoma of skin [RCV000436936]|Non-Hodgkin lymphoma [RCV000429761] Chr7:148811650 [GRCh38]
Chr7:148508742 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.1937A>C (p.Tyr646Ser) single nucleotide variant Lymphoma [RCV000423969]|Malignant melanoma of skin [RCV000441670]|Non-Hodgkin lymphoma [RCV000433156] Chr7:148811635 [GRCh38]
Chr7:148508727 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.1922A>T (p.Glu641Val) single nucleotide variant Malignant melanoma of skin [RCV000419957]|Non-Hodgkin lymphoma [RCV000437178] Chr7:148811650 [GRCh38]
Chr7:148508742 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.2029+17G>A single nucleotide variant Weaver syndrome [RCV002060036]|not specified [RCV000426923] Chr7:148810316 [GRCh38]
Chr7:148507408 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7q35-36.3(chr7:143839360-159138663) copy number loss Abnormal esophagus morphology [RCV000416719] Chr7:143839360..159138663 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_004456.5(EZH2):c.474C>T (p.His158=) single nucleotide variant Weaver syndrome [RCV000458883] Chr7:148829738 [GRCh38]
Chr7:148526830 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1852-9A>C single nucleotide variant Weaver syndrome [RCV000474149] Chr7:148811729 [GRCh38]
Chr7:148508821 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.165C>G (p.Ile55Met) single nucleotide variant EZH2-related disorder [RCV004539955]|Weaver syndrome [RCV001088260]|not provided [RCV000520518] Chr7:148846551 [GRCh38]
Chr7:148543643 [GRCh37]
Chr7:7q36.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004456.5(EZH2):c.2226C>T (p.Val742=) single nucleotide variant EZH2-related disorder [RCV004535492]|Weaver syndrome [RCV000460480]|not provided [RCV001536219] Chr7:148807676 [GRCh38]
Chr7:148504768 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.550G>C (p.Asp184His) single nucleotide variant not provided [RCV000485113] Chr7:148828815 [GRCh38]
Chr7:148525907 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.2221T>C (p.Tyr741His) single nucleotide variant not provided [RCV000485321] Chr7:148807681 [GRCh38]
Chr7:148504773 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.1474A>T (p.Thr492Ser) single nucleotide variant Weaver syndrome [RCV000461681] Chr7:148816715 [GRCh38]
Chr7:148513807 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.587G>C (p.Arg196Thr) single nucleotide variant Weaver syndrome [RCV000799198]|not provided [RCV000478519] Chr7:148828778 [GRCh38]
Chr7:148525870 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1119del (p.Thr374fs) deletion not provided [RCV000482926] Chr7:148817998 [GRCh38]
Chr7:148515090 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1990G>T (p.Asp664Tyr) single nucleotide variant Weaver syndrome [RCV000477287] Chr7:148810372 [GRCh38]
Chr7:148507464 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_004456.5(EZH2):c.1363A>G (p.Asn455Asp) single nucleotide variant not provided [RCV000498852] Chr7:148817269 [GRCh38]
Chr7:148514361 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1730C>T (p.Pro577Leu) single nucleotide variant not provided [RCV000498960] Chr7:148814080 [GRCh38]
Chr7:148511172 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_004456.5(EZH2):c.2191T>C (p.Tyr731His) single nucleotide variant not provided [RCV000497306] Chr7:148809075 [GRCh38]
Chr7:148506167 [GRCh37]
Chr7:7q36.1		 likely pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_004456.5(EZH2):c.619C>T (p.Arg207Ter) single nucleotide variant not provided [RCV000498482] Chr7:148828746 [GRCh38]
Chr7:148525838 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4 copy number gain See cases [RCV000511618] Chr7:148189771..150867270 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_004456.5(EZH2):c.2213C>A (p.Ala738Asp) single nucleotide variant Weaver syndrome [RCV000495948] Chr7:148807689 [GRCh38]
Chr7:148504781 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.406G>C (p.Asp136His) single nucleotide variant Inborn genetic diseases [RCV000624607] Chr7:148829806 [GRCh38]
Chr7:148526898 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.1178C>T (p.Thr393Met) single nucleotide variant Weaver syndrome [RCV000634024] Chr7:148817939 [GRCh38]
Chr7:148515031 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1104C>T (p.Ser368=) single nucleotide variant Weaver syndrome [RCV000634027] Chr7:148818013 [GRCh38]
Chr7:148515105 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.484+10A>G single nucleotide variant Weaver syndrome [RCV000634028] Chr7:148829718 [GRCh38]
Chr7:148526810 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.546TGA[2] (p.Asp189del) microsatellite Weaver syndrome [RCV000535181] Chr7:148828811..148828813 [GRCh38]
Chr7:148525903..148525905 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1505+12A>G single nucleotide variant Weaver syndrome [RCV002064245]|not specified [RCV000614661] Chr7:148816672 [GRCh38]
Chr7:148513764 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_004456.5(EZH2):c.2110+9C>G single nucleotide variant Weaver syndrome [RCV000558981] Chr7:148809301 [GRCh38]
Chr7:148506393 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_004456.5(EZH2):c.1245A>C (p.Ala415=) single nucleotide variant Weaver syndrome [RCV001445671]|not specified [RCV000607680] Chr7:148817387 [GRCh38]
Chr7:148514479 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1087C>T (p.Leu363Phe) single nucleotide variant Weaver syndrome [RCV000701231] Chr7:148818030 [GRCh38]
Chr7:148515122 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2218_2220dup (p.Lys740dup) duplication Weaver syndrome [RCV000699921] Chr7:148807681..148807682 [GRCh38]
Chr7:148504773..148504774 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_004456.5(EZH2):c.1198_1200del (p.Lys400del) deletion Weaver syndrome [RCV000699612]|not provided [RCV001759391] Chr7:148817917..148817919 [GRCh38]
Chr7:148515009..148515011 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1419G>T (p.Glu473Asp) single nucleotide variant Weaver syndrome [RCV000707013] Chr7:148816770 [GRCh38]
Chr7:148513862 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.728+222CA[3] microsatellite not provided [RCV001530656] Chr7:148826935..148826936 [GRCh38]
Chr7:148524027..148524028 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q35-36.1(chr7:143711059-152573935)x3 copy number gain not provided [RCV000747094] Chr7:143711059..152573935 [GRCh37]
Chr7:7q35-36.1		 benign
GRCh37/hg19 7q36.1-36.3(chr7:148238976-159126310)x1 copy number loss not provided [RCV000747115] Chr7:148238976..159126310 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NM_004456.5(EZH2):c.2196-115_2196-109del deletion not provided [RCV001679999] Chr7:148807815..148807821 [GRCh38]
Chr7:148504907..148504913 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.908-99G>A single nucleotide variant not provided [RCV001574666] Chr7:148819786 [GRCh38]
Chr7:148516878 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.907+84T>A single nucleotide variant not provided [RCV001552135] Chr7:148826370 [GRCh38]
Chr7:148523462 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1512G>A (p.Trp504Ter) single nucleotide variant not provided [RCV000998940] Chr7:148815540 [GRCh38]
Chr7:148512632 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.1689G>C (p.Pro563=) single nucleotide variant Weaver syndrome [RCV002064535] Chr7:148814121 [GRCh38]
Chr7:148511213 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1785C>T (p.Ala595=) single nucleotide variant Weaver syndrome [RCV002536265] Chr7:148814025 [GRCh38]
Chr7:148511117 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1179G>T (p.Thr393=) single nucleotide variant Weaver syndrome [RCV000867877] Chr7:148817938 [GRCh38]
Chr7:148515030 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.933T>C (p.Tyr311=) single nucleotide variant Weaver syndrome [RCV000867451]|not provided [RCV004705827] Chr7:148819662 [GRCh38]
Chr7:148516754 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1983A>G (p.Lys661=) single nucleotide variant Weaver syndrome [RCV000865770]|not provided [RCV001312156] Chr7:148810379 [GRCh38]
Chr7:148507471 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_004456.5(EZH2):c.2172C>T (p.Gly724=) single nucleotide variant Weaver syndrome [RCV000867146] Chr7:148809094 [GRCh38]
Chr7:148506186 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1302T>C (p.Asn434=) single nucleotide variant Weaver syndrome [RCV000865510] Chr7:148817330 [GRCh38]
Chr7:148514422 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.732T>C (p.Tyr244=) single nucleotide variant Weaver syndrome [RCV000876983] Chr7:148826629 [GRCh38]
Chr7:148523721 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.485-8C>T single nucleotide variant Weaver syndrome [RCV000866080]|not provided [RCV003884762] Chr7:148828888 [GRCh38]
Chr7:148525980 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1000-4G>A single nucleotide variant Weaver syndrome [RCV001424197] Chr7:148818121 [GRCh38]
Chr7:148515213 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1179G>C (p.Thr393=) single nucleotide variant Weaver syndrome [RCV000876283] Chr7:148817938 [GRCh38]
Chr7:148515030 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NC_000007.14:g.(?_146116001)_(148847318_?)del deletion Cortical dysplasia-focal epilepsy syndrome [RCV001033573] Chr7:145813093..148544410 [GRCh37]
Chr7:7q35-36.1		 pathogenic
NM_004456.5(EZH2):c.1179G>A (p.Thr393=) single nucleotide variant Weaver syndrome [RCV003611536] Chr7:148817938 [GRCh38]
Chr7:148515030 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2223T>C (p.Tyr741=) single nucleotide variant Weaver syndrome [RCV001441674] Chr7:148807679 [GRCh38]
Chr7:148504771 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1452A>G (p.Pro484=) single nucleotide variant Weaver syndrome [RCV000863463] Chr7:148816737 [GRCh38]
Chr7:148513829 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.2029+10A>G single nucleotide variant Weaver syndrome [RCV001477714] Chr7:148810323 [GRCh38]
Chr7:148507415 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.159G>A (p.Thr53=) single nucleotide variant Weaver syndrome [RCV002536248]|not provided [RCV003884750] Chr7:148846557 [GRCh38]
Chr7:148543649 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.246+229G>A single nucleotide variant not provided [RCV000837351] Chr7:148846241 [GRCh38]
Chr7:148543333 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1240+170G>C single nucleotide variant not provided [RCV000837352] Chr7:148817707 [GRCh38]
Chr7:148514799 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2196-244A>G single nucleotide variant not provided [RCV000837353] Chr7:148807950 [GRCh38]
Chr7:148505042 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1947+236T>C single nucleotide variant not provided [RCV000839861] Chr7:148811389 [GRCh38]
Chr7:148508481 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.2196-61_2196-57dup duplication not provided [RCV000839865] Chr7:148807762..148807763 [GRCh38]
Chr7:148504854..148504855 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.118A>G (p.Ser40Gly) single nucleotide variant Weaver syndrome [RCV000818401] Chr7:148846598 [GRCh38]
Chr7:148543690 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.623A>G (p.Asp208Gly) single nucleotide variant Weaver syndrome [RCV000795414] Chr7:148828742 [GRCh38]
Chr7:148525834 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.246+260del deletion not provided [RCV000833346] Chr7:148846210 [GRCh38]
Chr7:148543302 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2196-2A>G single nucleotide variant Weaver syndrome [RCV000811856] Chr7:148807708 [GRCh38]
Chr7:148504800 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2187T>G (p.Phe729Leu) single nucleotide variant Weaver syndrome [RCV000803814] Chr7:148809079 [GRCh38]
Chr7:148506171 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.1241-135C>T single nucleotide variant not provided [RCV000839862] Chr7:148817526 [GRCh38]
Chr7:148514618 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.2195+99T>C single nucleotide variant not provided [RCV000839863] Chr7:148808972 [GRCh38]
Chr7:148506064 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.1505+269G>C single nucleotide variant not provided [RCV000832853] Chr7:148816415 [GRCh38]
Chr7:148513507 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.1948-29dup duplication not provided [RCV000832868] Chr7:148810442..148810443 [GRCh38]
Chr7:148507534..148507535 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.2000T>C (p.Met667Thr) single nucleotide variant Weaver syndrome [RCV000805355] Chr7:148810362 [GRCh38]
Chr7:148507454 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.1852-21T>C single nucleotide variant Weaver syndrome [RCV001702563]|not provided [RCV000829625] Chr7:148811741 [GRCh38]
Chr7:148508833 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.247-80G>A single nucleotide variant not provided [RCV000833193] Chr7:148832830 [GRCh38]
Chr7:148529922 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.-7-236C>T single nucleotide variant not provided [RCV000837295] Chr7:148847541 [GRCh38]
Chr7:148544633 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.2196-130T>G single nucleotide variant not provided [RCV000829547] Chr7:148807836 [GRCh38]
Chr7:148504928 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1947G>A (p.Glu649=) single nucleotide variant Weaver syndrome [RCV001044667] Chr7:148811625 [GRCh38]
Chr7:148508717 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2132A>T (p.His711Leu) single nucleotide variant Weaver syndrome [RCV000793571] Chr7:148809134 [GRCh38]
Chr7:148506226 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.246+37T>C single nucleotide variant Weaver syndrome [RCV001702843]|not provided [RCV000830103] Chr7:148846433 [GRCh38]
Chr7:148543525 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.1548C>T (p.Asp516=) single nucleotide variant Weaver syndrome [RCV000864162] Chr7:148815038 [GRCh38]
Chr7:148512130 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.562G>A (p.Asp188Asn) single nucleotide variant Weaver syndrome [RCV000810542] Chr7:148828803 [GRCh38]
Chr7:148525895 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2234A>G (p.Glu745Gly) single nucleotide variant Weaver syndrome [RCV000788111] Chr7:148807668 [GRCh38]
Chr7:148504760 [GRCh37]
Chr7:7q36.1		 pathogenic|uncertain significance
Single allele duplication not provided [RCV000844986] Chr7:147897705..149874566 [GRCh37]
Chr7:7q35-36.1		 not provided
NM_004456.5(EZH2):c.2196-10_2197dup duplication Weaver syndrome [RCV000797420] Chr7:148807704..148807705 [GRCh38]
Chr7:148504796..148504797 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.2110+39A>C single nucleotide variant not provided [RCV000829626] Chr7:148809271 [GRCh38]
Chr7:148506363 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.1240+35T>C single nucleotide variant not provided [RCV000835268] Chr7:148817842 [GRCh38]
Chr7:148514934 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.4:c.1240+48G>A single nucleotide variant not provided [RCV000835269] Chr7:148514921 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.118-63G>A single nucleotide variant not provided [RCV000841651] Chr7:148846661 [GRCh38]
Chr7:148543753 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.1682G>T (p.Arg561Leu) single nucleotide variant Weaver syndrome [RCV000820792] Chr7:148814128 [GRCh38]
Chr7:148511220 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1330A>G (p.Met444Val) single nucleotide variant Weaver syndrome [RCV001068427] Chr7:148817302 [GRCh38]
Chr7:148514394 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.372T>C (p.Asp124=) single nucleotide variant Weaver syndrome [RCV001470531] Chr7:148829840 [GRCh38]
Chr7:148526932 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
NC_000007.14:g.(?_148807626)_(148819707_?)dup duplication Weaver syndrome [RCV001031496] Chr7:148504718..148516799 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1198_1203del (p.Lys400_Glu401del) deletion Weaver syndrome [RCV001240391] Chr7:148817914..148817919 [GRCh38]
Chr7:148515006..148515011 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2048C>A (p.Thr683Asn) single nucleotide variant Weaver syndrome [RCV001222648] Chr7:148809372 [GRCh38]
Chr7:148506464 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.398A>G (p.Tyr133Cys) single nucleotide variant Weaver syndrome [RCV001201666]|not provided [RCV001268039] Chr7:148829814 [GRCh38]
Chr7:148526906 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_004456.5(EZH2):c.2195+4G>A single nucleotide variant Weaver syndrome [RCV001230210] Chr7:148809067 [GRCh38]
Chr7:148506159 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1241-14A>G single nucleotide variant Weaver syndrome [RCV003112001] Chr7:148817405 [GRCh38]
Chr7:148514497 [GRCh37]
Chr7:7q36.1		 likely benign
NC_000007.13:g.(?_148504738)_(148544390_?)del deletion Weaver syndrome [RCV003113488] Chr7:148504738..148544390 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_147600637)_(148544390_?)dup duplication Cortical dysplasia-focal epilepsy syndrome [RCV004579600]|Weaver syndrome [RCV003113489] Chr7:147600637..148544390 [GRCh37]
Chr7:7q35-36.1		 uncertain significance
NM_004456.5(EZH2):c.1908T>C (p.Pro636=) single nucleotide variant Weaver syndrome [RCV003118431] Chr7:148811664 [GRCh38]
Chr7:148508756 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.-7-280G>C single nucleotide variant not provided [RCV001569120] Chr7:148847585 [GRCh38]
Chr7:148544677 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2195+110G>A single nucleotide variant not provided [RCV001565770] Chr7:148808961 [GRCh38]
Chr7:148506053 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.118-284CA[18] microsatellite not provided [RCV001617930] Chr7:148846839..148846846 [GRCh38]
Chr7:148543931..148543938 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.2030-273del deletion not provided [RCV001615943] Chr7:148809663 [GRCh38]
Chr7:148506755 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.1673-279G>A single nucleotide variant not provided [RCV001550564] Chr7:148814416 [GRCh38]
Chr7:148511508 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2029+127G>A single nucleotide variant not provided [RCV001556402] Chr7:148810206 [GRCh38]
Chr7:148507298 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.484+96T>C single nucleotide variant not provided [RCV001562838] Chr7:148829632 [GRCh38]
Chr7:148526724 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.118-284CA[20] microsatellite not provided [RCV001686562] Chr7:148846839..148846842 [GRCh38]
Chr7:148543931..148543934 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.1458C>T (p.Pro486=) single nucleotide variant Weaver syndrome [RCV000861500]|not provided [RCV004705794] Chr7:148816731 [GRCh38]
Chr7:148513823 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1000-5C>T single nucleotide variant Weaver syndrome [RCV000861995] Chr7:148818122 [GRCh38]
Chr7:148515214 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1505+9G>T single nucleotide variant not provided [RCV000872173] Chr7:148816675 [GRCh38]
Chr7:148513767 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.537T>G (p.Gly179=) single nucleotide variant Weaver syndrome [RCV001395273] Chr7:148828828 [GRCh38]
Chr7:148525920 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.963C>T (p.Asp321=) single nucleotide variant Weaver syndrome [RCV000875306] Chr7:148819632 [GRCh38]
Chr7:148516724 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.12T>G (p.Thr4=) single nucleotide variant Weaver syndrome [RCV001470667] Chr7:148847287 [GRCh38]
Chr7:148544379 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1240+10G>A single nucleotide variant Weaver syndrome [RCV001407257] Chr7:148817867 [GRCh38]
Chr7:148514959 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.573C>T (p.Asp191=) single nucleotide variant Weaver syndrome [RCV000867497] Chr7:148828792 [GRCh38]
Chr7:148525884 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1377T>C (p.Ile459=) single nucleotide variant Weaver syndrome [RCV002539956] Chr7:148817255 [GRCh38]
Chr7:148514347 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2217G>T (p.Leu739=) single nucleotide variant Weaver syndrome [RCV001393665] Chr7:148807685 [GRCh38]
Chr7:148504777 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2049C>T (p.Thr683=) single nucleotide variant not provided [RCV000932975] Chr7:148809371 [GRCh38]
Chr7:148506463 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1905T>C (p.Asp635=) single nucleotide variant Weaver syndrome [RCV000864862]|not provided [RCV003884753] Chr7:148811667 [GRCh38]
Chr7:148508759 [GRCh37]
Chr7:7q36.1		 likely benign
NC_000007.14:g.(?_147395589)_(148847318_?)del deletion Cortical dysplasia-focal epilepsy syndrome [RCV001033596] Chr7:147092681..148544410 [GRCh37]
Chr7:7q35-36.1		 pathogenic
NM_004456.5(EZH2):c.1210_1212del (p.Glu404del) deletion Weaver syndrome [RCV001226218] Chr7:148817905..148817907 [GRCh38]
Chr7:148514997..148514999 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.574G>A (p.Asp192Asn) single nucleotide variant Weaver syndrome [RCV001216815] Chr7:148828791 [GRCh38]
Chr7:148525883 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_004456.5(EZH2):c.2040G>A (p.Val680=) single nucleotide variant Weaver syndrome [RCV001245565] Chr7:148809380 [GRCh38]
Chr7:148506472 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_004456.5(EZH2):c.485-120A>T single nucleotide variant not provided [RCV001561861] Chr7:148829000 [GRCh38]
Chr7:148526092 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1506-239T>C single nucleotide variant not provided [RCV001540996] Chr7:148815785 [GRCh38]
Chr7:148512877 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.-7-165T>C single nucleotide variant not provided [RCV001551645] Chr7:148847470 [GRCh38]
Chr7:148544562 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.626-277A>C single nucleotide variant not provided [RCV001595413] Chr7:148827543 [GRCh38]
Chr7:148524635 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.-8+703C>T single nucleotide variant not provided [RCV001552916] Chr7:148883461 [GRCh38]
Chr7:148580553 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1000-78T>A single nucleotide variant not provided [RCV001559804] Chr7:148818195 [GRCh38]
Chr7:148515287 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2029+104A>G single nucleotide variant not provided [RCV001560808] Chr7:148810229 [GRCh38]
Chr7:148507321 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1725G>T (p.Gln575His) single nucleotide variant not provided [RCV002467054] Chr7:148814085 [GRCh38]
Chr7:148511177 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.484+88T>A single nucleotide variant not provided [RCV001561398] Chr7:148829640 [GRCh38]
Chr7:148526732 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2196-188C>G single nucleotide variant not provided [RCV001556355] Chr7:148807894 [GRCh38]
Chr7:148504986 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1506-304C>T single nucleotide variant not provided [RCV001556457] Chr7:148815850 [GRCh38]
Chr7:148512942 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1 copy number loss not provided [RCV001006022] Chr7:145962558..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
NM_004456.5(EZH2):c.118-284CA[16] microsatellite not provided [RCV001656723] Chr7:148846839..148846850 [GRCh38]
Chr7:148543931..148543942 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.2196-110_2196-109del deletion not provided [RCV001723168] Chr7:148807815..148807816 [GRCh38]
Chr7:148504907..148504908 [GRCh37]
Chr7:7q36.1		 benign
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
NM_004456.5(EZH2):c.907+245del deletion not provided [RCV001590688] Chr7:148826209 [GRCh38]
Chr7:148523301 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2111-46C>T single nucleotide variant not provided [RCV001678570] Chr7:148809201 [GRCh38]
Chr7:148506293 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.2196-111_2196-109del deletion not provided [RCV001718310] Chr7:148807815..148807817 [GRCh38]
Chr7:148504907..148504909 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.363+43T>C single nucleotide variant not provided [RCV001596626] Chr7:148832591 [GRCh38]
Chr7:148529683 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.775G>C (p.Glu259Gln) single nucleotide variant Weaver syndrome [RCV001252996] Chr7:148826586 [GRCh38]
Chr7:148523678 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.232C>T (p.Arg78Cys) single nucleotide variant Weaver syndrome [RCV001050174] Chr7:148846484 [GRCh38]
Chr7:148543576 [GRCh37]
Chr7:7q36.1		 benign|uncertain significance
NM_004456.5(EZH2):c.626-118T>C single nucleotide variant not provided [RCV001588643] Chr7:148827384 [GRCh38]
Chr7:148524476 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.472C>T (p.His158Tyr) single nucleotide variant Weaver syndrome [RCV001706770] Chr7:148829740 [GRCh38]
Chr7:148526832 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.118-284CA[21] microsatellite not provided [RCV001710831] Chr7:148846839..148846840 [GRCh38]
Chr7:148543931..148543932 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.2195+152T>C single nucleotide variant not provided [RCV001583040] Chr7:148808919 [GRCh38]
Chr7:148506011 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1505+20C>G single nucleotide variant Weaver syndrome [RCV002073380]|not provided [RCV001725020] Chr7:148816664 [GRCh38]
Chr7:148513756 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.2195+178T>C single nucleotide variant not provided [RCV001692657] Chr7:148808893 [GRCh38]
Chr7:148505985 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.1786G>A (p.Ala596Thr) single nucleotide variant Weaver syndrome [RCV001034307] Chr7:148814024 [GRCh38]
Chr7:148511116 [GRCh37]
Chr7:7q36.1		 likely benign
NC_000007.14:g.(?_146116001)_(148847318_?)dup duplication Cortical dysplasia-focal epilepsy syndrome [RCV001032388] Chr7:145813093..148544410 [GRCh37]
Chr7:7q35-36.1		 uncertain significance
NM_004456.5(EZH2):c.9G>C (p.Gln3His) single nucleotide variant Weaver syndrome [RCV001218458] Chr7:148847290 [GRCh38]
Chr7:148544382 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.646C>T (p.Arg216Trp) single nucleotide variant Weaver syndrome [RCV001203904] Chr7:148827246 [GRCh38]
Chr7:148524338 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3 copy number gain not provided [RCV001249383] Chr7:143107740..156886246 [GRCh37]
Chr7:7q35-36.3		 not provided
GRCh37/hg19 7q35-36.1(chr7:147897705-149874566)x3 copy number loss not provided [RCV001249216] Chr7:147897705..149874566 [GRCh37]
Chr7:7q35-36.1		 not provided
NM_004456.5(EZH2):c.1030A>G (p.Thr344Ala) single nucleotide variant Weaver syndrome [RCV001214446] Chr7:148818087 [GRCh38]
Chr7:148515179 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_004456.5(EZH2):c.2235A>T (p.Glu745Asp) single nucleotide variant Weaver syndrome [RCV001253148] Chr7:148807667 [GRCh38]
Chr7:148504759 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_004456.5(EZH2):c.364-14dup duplication Weaver syndrome [RCV001514298] Chr7:148829855..148829856 [GRCh38]
Chr7:148526947..148526948 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.118-284CA[17] microsatellite not provided [RCV001663115] Chr7:148846839..148846848 [GRCh38]
Chr7:148543931..148543940 [GRCh37]
Chr7:7q36.1		 benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_004456.5(EZH2):c.817C>A (p.Gln273Lys) single nucleotide variant not provided [RCV002284857] Chr7:148826544 [GRCh38]
Chr7:148523636 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q36.1(chr7:148370799-148659745)x3 copy number gain not provided [RCV001258983] Chr7:148370799..148659745 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.44G>T (p.Trp15Leu) single nucleotide variant Weaver syndrome [RCV001270773] Chr7:148847255 [GRCh38]
Chr7:148544347 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1533A>G (p.Ile511Met) single nucleotide variant Weaver syndrome [RCV001310011] Chr7:148815519 [GRCh38]
Chr7:148512611 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.442G>A (p.Glu148Lys) single nucleotide variant Weaver syndrome [RCV001316852] Chr7:148829770 [GRCh38]
Chr7:148526862 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1144G>A (p.Asp382Asn) single nucleotide variant Weaver syndrome [RCV001314257] Chr7:148817973 [GRCh38]
Chr7:148515065 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_145813093)_(148544390_?)dup duplication Cortical dysplasia-focal epilepsy syndrome [RCV001314626] Chr7:145813093..148544390 [GRCh37]
Chr7:7q35-36.1		 uncertain significance
NM_004456.5(EZH2):c.1424G>C (p.Arg475Thr) single nucleotide variant Inborn genetic diseases [RCV003263991]|Weaver syndrome [RCV001349238] Chr7:148816765 [GRCh38]
Chr7:148513857 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_004456.5(EZH2):c.545A>G (p.Asn182Ser) single nucleotide variant Weaver syndrome [RCV001352156] Chr7:148828820 [GRCh38]
Chr7:148525912 [GRCh37]
Chr7:7q36.1		 benign|uncertain significance
NM_004456.5(EZH2):c.1140A>G (p.Ser380=) single nucleotide variant Weaver syndrome [RCV001422990] Chr7:148817977 [GRCh38]
Chr7:148515069 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1110C>T (p.Pro370=) single nucleotide variant EZH2-related disorder [RCV004531263]|Weaver syndrome [RCV001414756]|not provided [RCV001565254] Chr7:148818007 [GRCh38]
Chr7:148515099 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1851+48G>C single nucleotide variant not provided [RCV001786561] Chr7:148813911 [GRCh38]
Chr7:148511003 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.688A>G (p.Met230Val) single nucleotide variant Weaver syndrome [RCV001294009] Chr7:148827204 [GRCh38]
Chr7:148524296 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1948-8_1948-4del deletion Weaver syndrome [RCV001414237] Chr7:148810418..148810422 [GRCh38]
Chr7:148507510..148507514 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2195+4G>C single nucleotide variant Weaver syndrome [RCV001342699] Chr7:148809067 [GRCh38]
Chr7:148506159 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1672+2dup duplication Weaver syndrome [RCV001364272] Chr7:148814911..148814912 [GRCh38]
Chr7:148512003..148512004 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.117+4T>C single nucleotide variant Weaver syndrome [RCV001319559] Chr7:148847178 [GRCh38]
Chr7:148544270 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.626-3T>C single nucleotide variant Weaver syndrome [RCV001309346]|not provided [RCV004692465] Chr7:148827269 [GRCh38]
Chr7:148524361 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.559G>A (p.Asp187Asn) single nucleotide variant Weaver syndrome [RCV001325063] Chr7:148828806 [GRCh38]
Chr7:148525898 [GRCh37]
Chr7:7q36.1		 benign|uncertain significance
NM_004456.5(EZH2):c.811T>C (p.Ser271Pro) single nucleotide variant Weaver syndrome [RCV001365436] Chr7:148826550 [GRCh38]
Chr7:148523642 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1230G>A (p.Ser410=) single nucleotide variant Weaver syndrome [RCV001413500] Chr7:148817887 [GRCh38]
Chr7:148514979 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.999+7C>T single nucleotide variant Weaver syndrome [RCV001413760] Chr7:148819589 [GRCh38]
Chr7:148516681 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.186G>A (p.Gln62=) single nucleotide variant Weaver syndrome [RCV001421446] Chr7:148846530 [GRCh38]
Chr7:148543622 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1362C>T (p.Asp454=) single nucleotide variant Weaver syndrome [RCV001424515] Chr7:148817270 [GRCh38]
Chr7:148514362 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1852-5T>C single nucleotide variant Weaver syndrome [RCV001464320] Chr7:148811725 [GRCh38]
Chr7:148508817 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.100C>A (p.Arg34=) single nucleotide variant Weaver syndrome [RCV001506580] Chr7:148847199 [GRCh38]
Chr7:148544291 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1241-9G>T single nucleotide variant Weaver syndrome [RCV001399238] Chr7:148817400 [GRCh38]
Chr7:148514492 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2124C>T (p.Asn708=) single nucleotide variant Weaver syndrome [RCV001404544] Chr7:148809142 [GRCh38]
Chr7:148506234 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1824C>T (p.Asn608=) single nucleotide variant Weaver syndrome [RCV001399835] Chr7:148813986 [GRCh38]
Chr7:148511078 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2111-6T>C single nucleotide variant Weaver syndrome [RCV001393218] Chr7:148809161 [GRCh38]
Chr7:148506253 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1672+8T>C single nucleotide variant Weaver syndrome [RCV001440265] Chr7:148814906 [GRCh38]
Chr7:148511998 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1686T>C (p.Phe562=) single nucleotide variant Weaver syndrome [RCV001442565] Chr7:148814124 [GRCh38]
Chr7:148511216 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.118-287del deletion not provided [RCV001709177] Chr7:148846885 [GRCh38]
Chr7:148543977 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.972T>G (p.Pro324=) single nucleotide variant Weaver syndrome [RCV001510132] Chr7:148819623 [GRCh38]
Chr7:148516715 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.625+240C>T single nucleotide variant not provided [RCV001725724] Chr7:148828500 [GRCh38]
Chr7:148525592 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.-7-218T>G single nucleotide variant not provided [RCV001725725] Chr7:148847523 [GRCh38]
Chr7:148544615 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.2196-109del deletion not provided [RCV001669475] Chr7:148807815 [GRCh38]
Chr7:148504907 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.555C>T (p.Asp185=) single nucleotide variant Weaver syndrome [RCV001477616] Chr7:148828810 [GRCh38]
Chr7:148525902 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.118-284CA[19] microsatellite not provided [RCV001685589] Chr7:148846839..148846844 [GRCh38]
Chr7:148543931..148543936 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.1392G>A (p.Gly464=) single nucleotide variant Weaver syndrome [RCV001520193]|not provided [RCV001676013] Chr7:148817240 [GRCh38]
Chr7:148514332 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.318A>T (p.Ser106=) single nucleotide variant Weaver syndrome [RCV001453171] Chr7:148832679 [GRCh38]
Chr7:148529771 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1546+7A>G single nucleotide variant Weaver syndrome [RCV001459523] Chr7:148815499 [GRCh38]
Chr7:148512591 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1680C>T (p.Asn560=) single nucleotide variant Weaver syndrome [RCV001443042] Chr7:148814130 [GRCh38]
Chr7:148511222 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1579C>A (p.Pro527Thr) single nucleotide variant Weaver syndrome [RCV001420549] Chr7:148815007 [GRCh38]
Chr7:148512099 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1744G>A (p.Val582Ile) single nucleotide variant not provided [RCV001754787] Chr7:148814066 [GRCh38]
Chr7:148511158 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1084C>T (p.Arg362Trp) single nucleotide variant not provided [RCV001760823] Chr7:148818033 [GRCh38]
Chr7:148515125 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.343C>G (p.Pro115Ala) single nucleotide variant not provided [RCV001761304] Chr7:148832654 [GRCh38]
Chr7:148529746 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2006G>A (p.Ser669Asn) single nucleotide variant Weaver syndrome [RCV002540444]|not provided [RCV001761360] Chr7:148810356 [GRCh38]
Chr7:148507448 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|uncertain significance
NM_004456.5(EZH2):c.386A>G (p.His129Arg) single nucleotide variant Weaver syndrome [RCV001775264] Chr7:148829826 [GRCh38]
Chr7:148526918 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.73C>T (p.Arg25Ter) single nucleotide variant not provided [RCV001767555] Chr7:148847226 [GRCh38]
Chr7:148544318 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.892C>T (p.Arg298Cys) single nucleotide variant not provided [RCV001769029] Chr7:148826469 [GRCh38]
Chr7:148523561 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2118G>A (p.Met706Ile) single nucleotide variant not provided [RCV001767821] Chr7:148809148 [GRCh38]
Chr7:148506240 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.218C>T (p.Ser73Phe) single nucleotide variant not provided [RCV001800024] Chr7:148846498 [GRCh38]
Chr7:148543590 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.38T>C (p.Val13Ala) single nucleotide variant not provided [RCV001768799] Chr7:148847261 [GRCh38]
Chr7:148544353 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.125T>G (p.Phe42Cys) single nucleotide variant not provided [RCV001752849] Chr7:148846591 [GRCh38]
Chr7:148543683 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1200AGA[3] (p.Glu404del) microsatellite Weaver syndrome [RCV001761538]|not provided [RCV003238428] Chr7:148817906..148817908 [GRCh38]
Chr7:148514998..148515000 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.786del (p.Asn263fs) deletion not provided [RCV001757239] Chr7:148826575 [GRCh38]
Chr7:148523667 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1672+4_1672+7del deletion not provided [RCV001754192] Chr7:148814907..148814910 [GRCh38]
Chr7:148511999..148512002 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.930T>G (p.Thr310=) single nucleotide variant Weaver syndrome [RCV002074341]|not specified [RCV001820557] Chr7:148819665 [GRCh38]
Chr7:148516757 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1094A>G (p.Asn365Ser) single nucleotide variant Weaver syndrome [RCV003146243]|not provided [RCV001814924] Chr7:148818023 [GRCh38]
Chr7:148515115 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1172C>T (p.Thr391Ile) single nucleotide variant Weaver syndrome [RCV001889171] Chr7:148817945 [GRCh38]
Chr7:148515037 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_004456.5(EZH2):c.637C>T (p.Arg213Cys) single nucleotide variant Weaver syndrome [RCV001915049] Chr7:148827255 [GRCh38]
Chr7:148524347 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3 copy number gain not provided [RCV001827941] Chr7:148153261..157543640 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NM_004456.5(EZH2):c.2084C>T (p.Ser695Leu) single nucleotide variant Weaver syndrome [RCV002007265]|not provided [RCV004762274] Chr7:148809336 [GRCh38]
Chr7:148506428 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_004456.5(EZH2):c.557A>G (p.Asp186Gly) single nucleotide variant Weaver syndrome [RCV001914977] Chr7:148828808 [GRCh38]
Chr7:148525900 [GRCh37]
Chr7:7q36.1		 benign|uncertain significance
NM_004456.5(EZH2):c.98G>A (p.Arg33Lys) single nucleotide variant Weaver syndrome [RCV001969677] Chr7:148847201 [GRCh38]
Chr7:148544293 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.484+6C>T single nucleotide variant Weaver syndrome [RCV002006844] Chr7:148829722 [GRCh38]
Chr7:148526814 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.754C>T (p.Leu252Phe) single nucleotide variant Weaver syndrome [RCV001947843] Chr7:148826607 [GRCh38]
Chr7:148523699 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1194T>A (p.Asn398Lys) single nucleotide variant Weaver syndrome [RCV001966749] Chr7:148817923 [GRCh38]
Chr7:148515015 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.251C>T (p.Ser84Leu) single nucleotide variant Weaver syndrome [RCV001967091] Chr7:148832746 [GRCh38]
Chr7:148529838 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_004456.5(EZH2):c.1673-39A>G single nucleotide variant not provided [RCV001837654] Chr7:148814176 [GRCh38]
Chr7:148511268 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2030-5T>G single nucleotide variant Weaver syndrome [RCV001948714] Chr7:148809395 [GRCh38]
Chr7:148506487 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2079T>A (p.Asn693Lys) single nucleotide variant Weaver syndrome [RCV001872651] Chr7:148809341 [GRCh38]
Chr7:148506433 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.364-14T>A single nucleotide variant Weaver syndrome [RCV002184889] Chr7:148829862 [GRCh38]
Chr7:148526954 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2029+18G>T single nucleotide variant Weaver syndrome [RCV001946389] Chr7:148810315 [GRCh38]
Chr7:148507407 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.604G>A (p.Asp202Asn) single nucleotide variant Weaver syndrome [RCV001931449] Chr7:148828761 [GRCh38]
Chr7:148525853 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_004456.5(EZH2):c.956C>T (p.Ala319Val) single nucleotide variant Weaver syndrome [RCV002038615] Chr7:148819639 [GRCh38]
Chr7:148516731 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.74G>A (p.Arg25Gln) single nucleotide variant Weaver syndrome [RCV001888305] Chr7:148847225 [GRCh38]
Chr7:148544317 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.568G>A (p.Gly190Arg) single nucleotide variant Weaver syndrome [RCV002012397] Chr7:148828797 [GRCh38]
Chr7:148525889 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1613C>A (p.Ser538Ter) single nucleotide variant Weaver syndrome [RCV002027821] Chr7:148814973 [GRCh38]
Chr7:148512065 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.626A>T (p.Asp209Val) single nucleotide variant Weaver syndrome [RCV001901838] Chr7:148827266 [GRCh38]
Chr7:148524358 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.283G>A (p.Val95Ile) single nucleotide variant Weaver syndrome [RCV001991358] Chr7:148832714 [GRCh38]
Chr7:148529806 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.364-20A>G single nucleotide variant Weaver syndrome [RCV001952187] Chr7:148829868 [GRCh38]
Chr7:148526960 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2021del (p.Asn673_Leu674insTer) deletion Weaver syndrome [RCV001878311] Chr7:148810341 [GRCh38]
Chr7:148507433 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.432T>G (p.Thr144=) single nucleotide variant Weaver syndrome [RCV002027879] Chr7:148829780 [GRCh38]
Chr7:148526872 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1286T>A (p.Ile429Asn) single nucleotide variant Weaver syndrome [RCV002018158] Chr7:148817346 [GRCh38]
Chr7:148514438 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1091C>T (p.Pro364Leu) single nucleotide variant Weaver syndrome [RCV001930936]|not provided [RCV004693962] Chr7:148818026 [GRCh38]
Chr7:148515118 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_004456.5(EZH2):c.2250C>G (p.Ile750Met) single nucleotide variant Weaver syndrome [RCV001903705] Chr7:148807652 [GRCh38]
Chr7:148504744 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1044A>G (p.Ile348Met) single nucleotide variant Weaver syndrome [RCV001992823] Chr7:148818073 [GRCh38]
Chr7:148515165 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.71T>C (p.Met24Thr) single nucleotide variant Weaver syndrome [RCV001939939] Chr7:148847228 [GRCh38]
Chr7:148544320 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.139C>G (p.Gln47Glu) single nucleotide variant Weaver syndrome [RCV002026477] Chr7:148846577 [GRCh38]
Chr7:148543669 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_004456.5(EZH2):c.1201G>C (p.Glu401Gln) single nucleotide variant Weaver syndrome [RCV001885464] Chr7:148817916 [GRCh38]
Chr7:148515008 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2110+7A>T single nucleotide variant Weaver syndrome [RCV002169067] Chr7:148809303 [GRCh38]
Chr7:148506395 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1411-12G>A single nucleotide variant Weaver syndrome [RCV002129431] Chr7:148816790 [GRCh38]
Chr7:148513882 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1000-19_1000-17del deletion Weaver syndrome [RCV002075531] Chr7:148818134..148818136 [GRCh38]
Chr7:148515226..148515228 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1416T>C (p.Tyr472=) single nucleotide variant Weaver syndrome [RCV002181488]|not provided [RCV002188488] Chr7:148816773 [GRCh38]
Chr7:148513865 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_004456.5(EZH2):c.2111-10C>T single nucleotide variant Weaver syndrome [RCV002210638] Chr7:148809165 [GRCh38]
Chr7:148506257 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.908-10dup duplication Weaver syndrome [RCV002192689] Chr7:148819696..148819697 [GRCh38]
Chr7:148516788..148516789 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1206A>G (p.Glu402=) single nucleotide variant Weaver syndrome [RCV002207442] Chr7:148817911 [GRCh38]
Chr7:148515003 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.364-17A>G single nucleotide variant Weaver syndrome [RCV002168930] Chr7:148829865 [GRCh38]
Chr7:148526957 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1614G>C (p.Ser538=) single nucleotide variant Weaver syndrome [RCV002208954] Chr7:148814972 [GRCh38]
Chr7:148512064 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.618C>T (p.His206=) single nucleotide variant Weaver syndrome [RCV002148384] Chr7:148828747 [GRCh38]
Chr7:148525839 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.626-15T>C single nucleotide variant Weaver syndrome [RCV002166222] Chr7:148827281 [GRCh38]
Chr7:148524373 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1851+12G>A single nucleotide variant Weaver syndrome [RCV002091351] Chr7:148813947 [GRCh38]
Chr7:148511039 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1263A>G (p.Thr421=) single nucleotide variant Weaver syndrome [RCV002171159] Chr7:148817369 [GRCh38]
Chr7:148514461 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1050C>A (p.Thr350=) single nucleotide variant Weaver syndrome [RCV002117324] Chr7:148818067 [GRCh38]
Chr7:148515159 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.484+15T>G single nucleotide variant Weaver syndrome [RCV002116894] Chr7:148829713 [GRCh38]
Chr7:148526805 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.728+7A>C single nucleotide variant Weaver syndrome [RCV002097703] Chr7:148827157 [GRCh38]
Chr7:148524249 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1411-8C>T single nucleotide variant Weaver syndrome [RCV002135292] Chr7:148816786 [GRCh38]
Chr7:148513878 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.908-14C>G single nucleotide variant Weaver syndrome [RCV002214698] Chr7:148819701 [GRCh38]
Chr7:148516793 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1505+19T>A single nucleotide variant Weaver syndrome [RCV002114711] Chr7:148816665 [GRCh38]
Chr7:148513757 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.177A>G (p.Glu59=) single nucleotide variant Weaver syndrome [RCV002133503] Chr7:148846539 [GRCh38]
Chr7:148543631 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.531C>T (p.Ala177=) single nucleotide variant Weaver syndrome [RCV002172062] Chr7:148828834 [GRCh38]
Chr7:148525926 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2103T>C (p.Tyr701=) single nucleotide variant Weaver syndrome [RCV002135847] Chr7:148809317 [GRCh38]
Chr7:148506409 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.744C>G (p.Thr248=) single nucleotide variant Weaver syndrome [RCV002202008] Chr7:148826617 [GRCh38]
Chr7:148523709 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1411-17_1411-12dup duplication Weaver syndrome [RCV002082079] Chr7:148816789..148816790 [GRCh38]
Chr7:148513881..148513882 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.729-15C>T single nucleotide variant Weaver syndrome [RCV002182153] Chr7:148826647 [GRCh38]
Chr7:148523739 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1000-11T>G single nucleotide variant Weaver syndrome [RCV002204853] Chr7:148818128 [GRCh38]
Chr7:148515220 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1809T>C (p.Asn603=) single nucleotide variant Weaver syndrome [RCV002204730] Chr7:148814001 [GRCh38]
Chr7:148511093 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.792A>C (p.Ile264=) single nucleotide variant Weaver syndrome [RCV002176940] Chr7:148826569 [GRCh38]
Chr7:148523661 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.485-17C>A single nucleotide variant Weaver syndrome [RCV002216841] Chr7:148828897 [GRCh38]
Chr7:148525989 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1209A>G (p.Glu403=) single nucleotide variant Weaver syndrome [RCV002203250] Chr7:148817908 [GRCh38]
Chr7:148515000 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1461T>C (p.Ala487=) single nucleotide variant Weaver syndrome [RCV002203326] Chr7:148816728 [GRCh38]
Chr7:148513820 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1896T>C (p.Phe632=) single nucleotide variant Weaver syndrome [RCV002154304] Chr7:148811676 [GRCh38]
Chr7:148508768 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1506-13T>C single nucleotide variant Weaver syndrome [RCV002118151] Chr7:148815559 [GRCh38]
Chr7:148512651 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.1413G>A (p.Val471=) single nucleotide variant Weaver syndrome [RCV002138310] Chr7:148816776 [GRCh38]
Chr7:148513868 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2110+15C>T single nucleotide variant Weaver syndrome [RCV002120485] Chr7:148809295 [GRCh38]
Chr7:148506387 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2110+8C>T single nucleotide variant Weaver syndrome [RCV002099101] Chr7:148809302 [GRCh38]
Chr7:148506394 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1320T>A (p.Ala440=) single nucleotide variant Weaver syndrome [RCV002119004] Chr7:148817312 [GRCh38]
Chr7:148514404 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.118-18_118-16del deletion Weaver syndrome [RCV002101689] Chr7:148846614..148846616 [GRCh38]
Chr7:148543706..148543708 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2136G>A (p.Arg712=) single nucleotide variant Weaver syndrome [RCV002184673] Chr7:148809130 [GRCh38]
Chr7:148506222 [GRCh37]
Chr7:7q36.1		 likely benign
NC_000007.13:g.(?_146471343)_(148544390_?)del deletion Cortical dysplasia-focal epilepsy syndrome [RCV003116694] Chr7:146471343..148544390 [GRCh37]
Chr7:7q35-36.1		 pathogenic
NC_000007.13:g.(?_145813969)_(148544390_?)dup duplication Cortical dysplasia-focal epilepsy syndrome [RCV003116701] Chr7:145813969..148544390 [GRCh37]
Chr7:7q35-36.1		 uncertain significance
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
NM_004456.5(EZH2):c.2039T>C (p.Val680Ala) single nucleotide variant not provided [RCV003123238] Chr7:148809381 [GRCh38]
Chr7:148506473 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
NM_004456.5(EZH2):c.1528_1531del (p.Lys510fs) deletion not provided [RCV003156629] Chr7:148815521..148815524 [GRCh38]
Chr7:148512613..148512616 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2185T>C (p.Phe729Leu) single nucleotide variant Weaver syndrome [RCV002273099] Chr7:148809081 [GRCh38]
Chr7:148506173 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_004456.5(EZH2):c.235G>A (p.Gly79Arg) single nucleotide variant Weaver syndrome [RCV003447646]|not provided [RCV003129451] Chr7:148846481 [GRCh38]
Chr7:148543573 [GRCh37]
Chr7:7q36.1		 likely pathogenic|uncertain significance
NM_004456.5(EZH2):c.1547-11T>C single nucleotide variant not provided [RCV003154156] Chr7:148815050 [GRCh38]
Chr7:148512142 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1882G>A (p.Gly628Ser) single nucleotide variant Weaver syndrome [RCV003149160] Chr7:148811690 [GRCh38]
Chr7:148508782 [GRCh37]
Chr7:7q36.1		 likely pathogenic
GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3 copy number gain not provided [RCV002279740] Chr7:146927174..159128556 [GRCh37]
Chr7:7q35-36.3		 pathogenic
NM_004456.5(EZH2):c.2110+2T>A single nucleotide variant not provided [RCV002291409] Chr7:148809308 [GRCh38]
Chr7:148506400 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.101G>A (p.Arg34Gln) single nucleotide variant not provided [RCV002275774] Chr7:148847198 [GRCh38]
Chr7:148544290 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_004456.5(EZH2):c.2204_2211dup (p.Ala738fs) duplication Weaver syndrome [RCV002274862] Chr7:148807690..148807691 [GRCh38]
Chr7:148504782..148504783 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_004456.5(EZH2):c.914A>C (p.His305Pro) single nucleotide variant not provided [RCV002293885] Chr7:148819681 [GRCh38]
Chr7:148516773 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1070G>A (p.Gly357Asp) single nucleotide variant not provided [RCV003237148] Chr7:148818047 [GRCh38]
Chr7:148515139 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1136A>G (p.Glu379Gly) single nucleotide variant not provided [RCV002290906] Chr7:148817981 [GRCh38]
Chr7:148515073 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.32G>T (p.Gly11Val) single nucleotide variant not provided [RCV003230047] Chr7:148847267 [GRCh38]
Chr7:148544359 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2199C>G (p.Tyr733Ter) single nucleotide variant Weaver syndrome [RCV002274861] Chr7:148807703 [GRCh38]
Chr7:148504795 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_004456.5(EZH2):c.920C>T (p.Thr307Ile) single nucleotide variant not provided [RCV002273609] Chr7:148819675 [GRCh38]
Chr7:148516767 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1549G>A (p.Gly517Ser) single nucleotide variant not provided [RCV002474058] Chr7:148815037 [GRCh38]
Chr7:148512129 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.532C>G (p.Leu178Val) single nucleotide variant Weaver syndrome [RCV002470466] Chr7:148828833 [GRCh38]
Chr7:148525925 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.395C>T (p.Pro132Leu) single nucleotide variant Weaver syndrome [RCV002472351] Chr7:148829817 [GRCh38]
Chr7:148526909 [GRCh37]
Chr7:7q36.1		 not provided
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
NM_004456.5(EZH2):c.1682G>A (p.Arg561His) single nucleotide variant not provided [RCV002308770] Chr7:148814128 [GRCh38]
Chr7:148511220 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.963C>G (p.Asp321Glu) single nucleotide variant Weaver syndrome [RCV002994025] Chr7:148819632 [GRCh38]
Chr7:148516724 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1947G>C (p.Glu649Asp) single nucleotide variant Weaver syndrome [RCV002993664] Chr7:148811625 [GRCh38]
Chr7:148508717 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1506-16_1506-13del deletion Weaver syndrome [RCV003075421] Chr7:148815559..148815562 [GRCh38]
Chr7:148512651..148512654 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.742A>G (p.Thr248Ala) single nucleotide variant Weaver syndrome [RCV002996260] Chr7:148826619 [GRCh38]
Chr7:148523711 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.946A>G (p.Thr316Ala) single nucleotide variant Weaver syndrome [RCV003075995] Chr7:148819649 [GRCh38]
Chr7:148516741 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.118-17del deletion Weaver syndrome [RCV003098969] Chr7:148846615 [GRCh38]
Chr7:148543707 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1560C>T (p.Asn520=) single nucleotide variant Weaver syndrome [RCV003077017] Chr7:148815026 [GRCh38]
Chr7:148512118 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.952A>G (p.Thr318Ala) single nucleotide variant Weaver syndrome [RCV002908171] Chr7:148819643 [GRCh38]
Chr7:148516735 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1288G>C (p.Glu430Gln) single nucleotide variant not provided [RCV002461724] Chr7:148817344 [GRCh38]
Chr7:148514436 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.484+7C>A single nucleotide variant Weaver syndrome [RCV002614985] Chr7:148829721 [GRCh38]
Chr7:148526813 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.907+4C>T single nucleotide variant Weaver syndrome [RCV002903692] Chr7:148826450 [GRCh38]
Chr7:148523542 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1032C>T (p.Thr344=) single nucleotide variant Weaver syndrome [RCV002616155] Chr7:148818085 [GRCh38]
Chr7:148515177 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1260A>T (p.Gln420His) single nucleotide variant Weaver syndrome [RCV003014100] Chr7:148817372 [GRCh38]
Chr7:148514464 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1306G>A (p.Glu436Lys) single nucleotide variant Weaver syndrome [RCV002685534] Chr7:148817326 [GRCh38]
Chr7:148514418 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1771C>G (p.Leu591Val) single nucleotide variant Weaver syndrome [RCV003016469] Chr7:148814039 [GRCh38]
Chr7:148511131 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1851+11A>G single nucleotide variant Weaver syndrome [RCV003076214] Chr7:148813948 [GRCh38]
Chr7:148511040 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1899C>A (p.Ile633=) single nucleotide variant Weaver syndrome [RCV002619915] Chr7:148811673 [GRCh38]
Chr7:148508765 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.729-12G>A single nucleotide variant Weaver syndrome [RCV002889593] Chr7:148826644 [GRCh38]
Chr7:148523736 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1240+14A>G single nucleotide variant Weaver syndrome [RCV002640444] Chr7:148817863 [GRCh38]
Chr7:148514955 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1698C>T (p.Arg566=) single nucleotide variant Weaver syndrome [RCV002867787] Chr7:148814112 [GRCh38]
Chr7:148511204 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2029+18G>C single nucleotide variant Weaver syndrome [RCV002637592] Chr7:148810315 [GRCh38]
Chr7:148507407 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.540A>G (p.Gln180=) single nucleotide variant Weaver syndrome [RCV002640198] Chr7:148828825 [GRCh38]
Chr7:148525917 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1879G>T (p.Ala627Ser) single nucleotide variant Weaver syndrome [RCV003080362] Chr7:148811693 [GRCh38]
Chr7:148508785 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2051G>A (p.Arg684His) single nucleotide variant Weaver syndrome [RCV003037266] Chr7:148809369 [GRCh38]
Chr7:148506461 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1852-4C>G single nucleotide variant Weaver syndrome [RCV003037149] Chr7:148811724 [GRCh38]
Chr7:148508816 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.625+7C>T single nucleotide variant Weaver syndrome [RCV002867358] Chr7:148828733 [GRCh38]
Chr7:148525825 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.364-7C>A single nucleotide variant Weaver syndrome [RCV002913015] Chr7:148829855 [GRCh38]
Chr7:148526947 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1240+7C>T single nucleotide variant Weaver syndrome [RCV002636523] Chr7:148817870 [GRCh38]
Chr7:148514962 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.-1_2del (p.Met1del) deletion Inborn genetic diseases [RCV002868174]|Weaver syndrome [RCV003502687] Chr7:148847297..148847299 [GRCh38]
Chr7:148544389..148544391 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2026A>G (p.Asn676Asp) single nucleotide variant Weaver syndrome [RCV002781448] Chr7:148810336 [GRCh38]
Chr7:148507428 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2030-19C>T single nucleotide variant Weaver syndrome [RCV002927441] Chr7:148809409 [GRCh38]
Chr7:148506501 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2130T>C (p.Asp710=) single nucleotide variant Weaver syndrome [RCV003077913] Chr7:148809136 [GRCh38]
Chr7:148506228 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.582A>G (p.Glu194=) single nucleotide variant Weaver syndrome [RCV002867765] Chr7:148828783 [GRCh38]
Chr7:148525875 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.515T>C (p.Val172Ala) single nucleotide variant Weaver syndrome [RCV003001890] Chr7:148828850 [GRCh38]
Chr7:148525942 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.364-16T>C single nucleotide variant Weaver syndrome [RCV002927517] Chr7:148829864 [GRCh38]
Chr7:148526956 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.647G>A (p.Arg216Gln) single nucleotide variant Inborn genetic diseases [RCV002932866]|Weaver syndrome [RCV002932865] Chr7:148827245 [GRCh38]
Chr7:148524337 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_004456.5(EZH2):c.763G>A (p.Ala255Thr) single nucleotide variant Weaver syndrome [RCV002895002] Chr7:148826598 [GRCh38]
Chr7:148523690 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.78G>A (p.Leu26=) single nucleotide variant Weaver syndrome [RCV003056960] Chr7:148847221 [GRCh38]
Chr7:148544313 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2110+16G>A single nucleotide variant Weaver syndrome [RCV002594172] Chr7:148809294 [GRCh38]
Chr7:148506386 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.118-4dup duplication Weaver syndrome [RCV002624059] Chr7:148846601..148846602 [GRCh38]
Chr7:148543693..148543694 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.626-17C>T single nucleotide variant Weaver syndrome [RCV002765444] Chr7:148827283 [GRCh38]
Chr7:148524375 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1574A>G (p.Tyr525Cys) single nucleotide variant Weaver syndrome [RCV003025639]|not provided [RCV003238910] Chr7:148815012 [GRCh38]
Chr7:148512104 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.437T>C (p.Ile146Thr) single nucleotide variant Weaver syndrome [RCV002931950] Chr7:148829775 [GRCh38]
Chr7:148526867 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.764C>T (p.Ala255Val) single nucleotide variant EZH2-related disorder [RCV004536452]|Weaver syndrome [RCV002932246] Chr7:148826597 [GRCh38]
Chr7:148523689 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1948-10_1948-9del deletion Weaver syndrome [RCV003085694] Chr7:148810423..148810424 [GRCh38]
Chr7:148507515..148507516 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1779T>C (p.Cys593=) single nucleotide variant Weaver syndrome [RCV002932389] Chr7:148814031 [GRCh38]
Chr7:148511123 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1689G>T (p.Pro563=) single nucleotide variant Weaver syndrome [RCV002958114] Chr7:148814121 [GRCh38]
Chr7:148511213 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1411-20G>C single nucleotide variant Weaver syndrome [RCV002667097] Chr7:148816798 [GRCh38]
Chr7:148513890 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.188G>A (p.Arg63Gln) single nucleotide variant Weaver syndrome [RCV002918073] Chr7:148846528 [GRCh38]
Chr7:148543620 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2029+14del deletion Weaver syndrome [RCV003039895] Chr7:148810319 [GRCh38]
Chr7:148507411 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1506-16C>A single nucleotide variant Weaver syndrome [RCV002575918] Chr7:148815562 [GRCh38]
Chr7:148512654 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.265T>A (p.Leu89Met) single nucleotide variant Weaver syndrome [RCV003087813] Chr7:148832732 [GRCh38]
Chr7:148529824 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.246+19T>C single nucleotide variant Weaver syndrome [RCV003089931] Chr7:148846451 [GRCh38]
Chr7:148543543 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2111-5T>C single nucleotide variant Weaver syndrome [RCV002631619] Chr7:148809160 [GRCh38]
Chr7:148506252 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.536G>C (p.Gly179Ala) single nucleotide variant Weaver syndrome [RCV002647306] Chr7:148828829 [GRCh38]
Chr7:148525921 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.246+13_246+17del microsatellite Weaver syndrome [RCV002937692] Chr7:148846453..148846457 [GRCh38]
Chr7:148543545..148543549 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1815C>T (p.Ser605=) single nucleotide variant Weaver syndrome [RCV002963151] Chr7:148813995 [GRCh38]
Chr7:148511087 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.485-14T>A single nucleotide variant Weaver syndrome [RCV003063378] Chr7:148828894 [GRCh38]
Chr7:148525986 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2166G>A (p.Gln722=) single nucleotide variant Weaver syndrome [RCV002580560] Chr7:148809100 [GRCh38]
Chr7:148506192 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1147A>G (p.Thr383Ala) single nucleotide variant Weaver syndrome [RCV002629919] Chr7:148817970 [GRCh38]
Chr7:148515062 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1506-22_1506-19del deletion Weaver syndrome [RCV003028074] Chr7:148815565..148815568 [GRCh38]
Chr7:148512657..148512660 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.233G>A (p.Arg78His) single nucleotide variant Weaver syndrome [RCV002938877] Chr7:148846483 [GRCh38]
Chr7:148543575 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.1070G>C (p.Gly357Ala) single nucleotide variant Weaver syndrome [RCV003008543] Chr7:148818047 [GRCh38]
Chr7:148515139 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1717A>T (p.Thr573Ser) single nucleotide variant Weaver syndrome [RCV003010476] Chr7:148814093 [GRCh38]
Chr7:148511185 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2030-20G>C single nucleotide variant Weaver syndrome [RCV002806668] Chr7:148809410 [GRCh38]
Chr7:148506502 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.720A>T (p.Leu240=) single nucleotide variant Weaver syndrome [RCV002600130] Chr7:148827172 [GRCh38]
Chr7:148524264 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1223A>G (p.Glu408Gly) single nucleotide variant Weaver syndrome [RCV002629435] Chr7:148817894 [GRCh38]
Chr7:148514986 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2111-15T>C single nucleotide variant Weaver syndrome [RCV003047553] Chr7:148809170 [GRCh38]
Chr7:148506262 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.563A>C (p.Asp188Ala) single nucleotide variant Weaver syndrome [RCV003051209] Chr7:148828802 [GRCh38]
Chr7:148525894 [GRCh37]
Chr7:7q36.1		 benign|uncertain significance
NM_004456.5(EZH2):c.364-9_364-8del deletion Weaver syndrome [RCV002633399] Chr7:148829856..148829857 [GRCh38]
Chr7:148526948..148526949 [GRCh37]
Chr7:7q36.1		 benign
NM_004456.5(EZH2):c.1335T>C (p.Phe445=) single nucleotide variant Weaver syndrome [RCV003068487] Chr7:148817297 [GRCh38]
Chr7:148514389 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.284T>G (p.Val95Gly) single nucleotide variant Weaver syndrome [RCV002653558] Chr7:148832713 [GRCh38]
Chr7:148529805 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1364A>G (p.Asn455Ser) single nucleotide variant Inborn genetic diseases [RCV004065872]|Weaver syndrome [RCV002605273] Chr7:148817268 [GRCh38]
Chr7:148514360 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.714A>G (p.Glu238=) single nucleotide variant Weaver syndrome [RCV002633504] Chr7:148827178 [GRCh38]
Chr7:148524270 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.899G>A (p.Cys300Tyr) single nucleotide variant Weaver syndrome [RCV002586589] Chr7:148826462 [GRCh38]
Chr7:148523554 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.603A>G (p.Lys201=) single nucleotide variant Weaver syndrome [RCV003067034] Chr7:148828762 [GRCh38]
Chr7:148525854 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.891T>C (p.His297=) single nucleotide variant Weaver syndrome [RCV003050980] Chr7:148826470 [GRCh38]
Chr7:148523562 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.118-15del deletion Weaver syndrome [RCV003071627] Chr7:148846613 [GRCh38]
Chr7:148543705 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.118-17T>C single nucleotide variant Weaver syndrome [RCV003071629] Chr7:148846615 [GRCh38]
Chr7:148543707 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.239C>T (p.Thr80Ile) single nucleotide variant Weaver syndrome [RCV002607782] Chr7:148846477 [GRCh38]
Chr7:148543569 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1672+15C>G single nucleotide variant Weaver syndrome [RCV002607796] Chr7:148814899 [GRCh38]
Chr7:148511991 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2173G>A (p.Glu725Lys) single nucleotide variant Weaver syndrome [RCV003068152] Chr7:148809093 [GRCh38]
Chr7:148506185 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.709G>A (p.Ala237Thr) single nucleotide variant Weaver syndrome [RCV003072303] Chr7:148827183 [GRCh38]
Chr7:148524275 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2029+18G>A single nucleotide variant Weaver syndrome [RCV002634793] Chr7:148810315 [GRCh38]
Chr7:148507407 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1852-19A>G single nucleotide variant Weaver syndrome [RCV003072117] Chr7:148811739 [GRCh38]
Chr7:148508831 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1176_1177del (p.Glu392fs) deletion not provided [RCV003225451] Chr7:148817940..148817941 [GRCh38]
Chr7:148515032..148515033 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1675C>A (p.Gln559Lys) single nucleotide variant not provided [RCV003223840] Chr7:148814135 [GRCh38]
Chr7:148511227 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1129G>A (p.Val377Met) single nucleotide variant Inborn genetic diseases [RCV003175304] Chr7:148817988 [GRCh38]
Chr7:148515080 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1835A>G (p.Gln612Arg) single nucleotide variant not provided [RCV003228475] Chr7:148813975 [GRCh38]
Chr7:148511067 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1097A>G (p.Asn366Ser) single nucleotide variant Weaver syndrome [RCV003147143] Chr7:148818020 [GRCh38]
Chr7:148515112 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.397T>G (p.Tyr133Asp) single nucleotide variant Weaver syndrome [RCV003147144] Chr7:148829815 [GRCh38]
Chr7:148526907 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2105C>T (p.Ala702Val) single nucleotide variant Weaver syndrome [RCV003147145] Chr7:148809315 [GRCh38]
Chr7:148506407 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2048C>T (p.Thr683Ile) single nucleotide variant Weaver syndrome [RCV003147146] Chr7:148809372 [GRCh38]
Chr7:148506464 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.679A>G (p.Ile227Val) single nucleotide variant Weaver syndrome [RCV003147147] Chr7:148827213 [GRCh38]
Chr7:148524305 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1918A>G (p.Asn640Asp) single nucleotide variant not provided [RCV003322116] Chr7:148811654 [GRCh38]
Chr7:148508746 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
NM_004456.5(EZH2):c.1182_1184del (p.Gly395del) deletion not provided [RCV003318792] Chr7:148817933..148817935 [GRCh38]
Chr7:148515025..148515027 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.237del (p.Thr80fs) deletion not provided [RCV003328762] Chr7:148846479 [GRCh38]
Chr7:148543571 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1891del (p.Ile631fs) deletion Hereditary cancer-predisposing syndrome [RCV003326286] Chr7:148811681 [GRCh38]
Chr7:148508773 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.722A>C (p.Lys241Thr) single nucleotide variant not provided [RCV003328776] Chr7:148827170 [GRCh38]
Chr7:148524262 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.812C>T (p.Ser271Phe) single nucleotide variant not provided [RCV003423820] Chr7:148826549 [GRCh38]
Chr7:148523641 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1 copy number loss not provided [RCV003334300] Chr7:140154317..152551638 [GRCh37]
Chr7:7q34-36.1		 pathogenic
NM_004456.5(EZH2):c.835C>T (p.His279Tyr) single nucleotide variant EZH2-related disorder [RCV004534416] Chr7:148826526 [GRCh38]
Chr7:148523618 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.1927A>C (p.Ile643Leu) single nucleotide variant Weaver syndrome [RCV003503261] Chr7:148811645 [GRCh38]
Chr7:148508737 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1841G>C (p.Gly614Ala) single nucleotide variant Weaver syndrome [RCV003503376] Chr7:148813969 [GRCh38]
Chr7:148511061 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1707A>T (p.Ala569=) single nucleotide variant Weaver syndrome [RCV003503371] Chr7:148814103 [GRCh38]
Chr7:148511195 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.485-9G>A single nucleotide variant Weaver syndrome [RCV003873140] Chr7:148828889 [GRCh38]
Chr7:148525981 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1215G>C (p.Lys405Asn) single nucleotide variant Weaver syndrome [RCV003503490] Chr7:148817902 [GRCh38]
Chr7:148514994 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.824A>C (p.Glu275Ala) single nucleotide variant Weaver syndrome [RCV003503505] Chr7:148826537 [GRCh38]
Chr7:148523629 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2030-20G>A single nucleotide variant Weaver syndrome [RCV003504247] Chr7:148809410 [GRCh38]
Chr7:148506502 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.364-9T>G single nucleotide variant Weaver syndrome [RCV003503823] Chr7:148829857 [GRCh38]
Chr7:148526949 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1410+11C>T single nucleotide variant Weaver syndrome [RCV003504189] Chr7:148817211 [GRCh38]
Chr7:148514303 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.182A>G (p.Lys61Arg) single nucleotide variant not provided [RCV003457524] Chr7:148846534 [GRCh38]
Chr7:148543626 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.117+16T>C single nucleotide variant Weaver syndrome [RCV003503915] Chr7:148847166 [GRCh38]
Chr7:148544258 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.625+4T>C single nucleotide variant Weaver syndrome [RCV003504186] Chr7:148828736 [GRCh38]
Chr7:148525828 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_004456.5(EZH2):c.1763A>G (p.Asp588Gly) single nucleotide variant Weaver syndrome [RCV003503946] Chr7:148814047 [GRCh38]
Chr7:148511139 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1218A>G (p.Lys406=) single nucleotide variant Weaver syndrome [RCV003504520] Chr7:148817899 [GRCh38]
Chr7:148514991 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.118-22_118-18del deletion Weaver syndrome [RCV003504168] Chr7:148846616..148846620 [GRCh38]
Chr7:148543708..148543712 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.364-15del deletion Weaver syndrome [RCV003504319] Chr7:148829863 [GRCh38]
Chr7:148526955 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1 copy number loss not provided [RCV003482989] Chr7:142099013..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_004456.5(EZH2):c.1000-7T>G single nucleotide variant Weaver syndrome [RCV003504295] Chr7:148818124 [GRCh38]
Chr7:148515216 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2029+3_2029+25del deletion Weaver syndrome [RCV003874758] Chr7:148810308..148810330 [GRCh38]
Chr7:148507400..148507422 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2111-16GT[2] microsatellite Weaver syndrome [RCV003503056] Chr7:148809166..148809167 [GRCh38]
Chr7:148506258..148506259 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2110+17T>C single nucleotide variant Weaver syndrome [RCV003503189] Chr7:148809293 [GRCh38]
Chr7:148506385 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1546+19C>G single nucleotide variant Weaver syndrome [RCV003503305] Chr7:148815487 [GRCh38]
Chr7:148512579 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1947+10T>G single nucleotide variant Weaver syndrome [RCV003502956] Chr7:148811615 [GRCh38]
Chr7:148508707 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1 copy number loss not provided [RCV003482991] Chr7:144940098..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1 copy number loss not provided [RCV003482992] Chr7:148538593..150967829 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q35-36.1(chr7:144075624-149323060)x1 copy number loss not provided [RCV003482990] Chr7:144075624..149323060 [GRCh37]
Chr7:7q35-36.1		 uncertain significance
NM_004456.5(EZH2):c.1917A>G (p.Lys639=) single nucleotide variant not provided [RCV003434223] Chr7:148811655 [GRCh38]
Chr7:148508747 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1695C>T (p.Cys565=) single nucleotide variant not provided [RCV003423819] Chr7:148814115 [GRCh38]
Chr7:148511207 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.446T>C (p.Leu149Pro) single nucleotide variant EZH2-related disorder [RCV004534263] Chr7:148829766 [GRCh38]
Chr7:148526858 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2233G>T (p.Glu745Ter) single nucleotide variant not provided [RCV003443376] Chr7:148807669 [GRCh38]
Chr7:148504761 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2015T>G (p.Phe672Cys) single nucleotide variant Weaver syndrome [RCV003444041] Chr7:148810347 [GRCh38]
Chr7:148507439 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.1410+9T>C single nucleotide variant Weaver syndrome [RCV003882573] Chr7:148817213 [GRCh38]
Chr7:148514305 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1054C>T (p.Pro352Ser) single nucleotide variant Weaver syndrome [RCV003828808] Chr7:148818063 [GRCh38]
Chr7:148515155 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1258C>G (p.Gln420Glu) single nucleotide variant Weaver syndrome [RCV003827339] Chr7:148817374 [GRCh38]
Chr7:148514466 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2195+1G>A single nucleotide variant not provided [RCV003883393] Chr7:148809070 [GRCh38]
Chr7:148506162 [GRCh37]
Chr7:7q36.1		 not provided
NM_004456.5(EZH2):c.906T>C (p.Tyr302=) single nucleotide variant Weaver syndrome [RCV003611221] Chr7:148826455 [GRCh38]
Chr7:148523547 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.237G>A (p.Gly79=) single nucleotide variant Weaver syndrome [RCV003611255] Chr7:148846479 [GRCh38]
Chr7:148543571 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.484+15T>C single nucleotide variant Weaver syndrome [RCV003611292] Chr7:148829713 [GRCh38]
Chr7:148526805 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.241A>G (p.Arg81Gly) single nucleotide variant Weaver syndrome [RCV003611361] Chr7:148846475 [GRCh38]
Chr7:148543567 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1033G>A (p.Ala345Thr) single nucleotide variant Weaver syndrome [RCV003611413] Chr7:148818084 [GRCh38]
Chr7:148515176 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1000-14T>G single nucleotide variant Weaver syndrome [RCV003611450] Chr7:148818131 [GRCh38]
Chr7:148515223 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.208A>G (p.Ile70Val) single nucleotide variant Weaver syndrome [RCV003611490] Chr7:148846508 [GRCh38]
Chr7:148543600 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1246A>G (p.Asn416Asp) single nucleotide variant Weaver syndrome [RCV003849538] Chr7:148817386 [GRCh38]
Chr7:148514478 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.907+20C>G single nucleotide variant Weaver syndrome [RCV003613254] Chr7:148826434 [GRCh38]
Chr7:148523526 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1749A>G (p.Arg583=) single nucleotide variant Weaver syndrome [RCV003612139] Chr7:148814061 [GRCh38]
Chr7:148511153 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1014G>A (p.Glu338=) single nucleotide variant Weaver syndrome [RCV003612142] Chr7:148818103 [GRCh38]
Chr7:148515195 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.954A>T (p.Thr318=) single nucleotide variant Weaver syndrome [RCV003613377] Chr7:148819641 [GRCh38]
Chr7:148516733 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1061G>A (p.Arg354His) single nucleotide variant Weaver syndrome [RCV003613398] Chr7:148818056 [GRCh38]
Chr7:148515148 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.363+9A>G single nucleotide variant Weaver syndrome [RCV003612386] Chr7:148832625 [GRCh38]
Chr7:148529717 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.535G>A (p.Gly179Ser) single nucleotide variant Weaver syndrome [RCV003612410] Chr7:148828830 [GRCh38]
Chr7:148525922 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.118-4T>A single nucleotide variant Weaver syndrome [RCV003611200] Chr7:148846602 [GRCh38]
Chr7:148543694 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1413G>T (p.Val471=) single nucleotide variant Weaver syndrome [RCV003612442] Chr7:148816776 [GRCh38]
Chr7:148513868 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.907+11A>G single nucleotide variant Weaver syndrome [RCV003611454] Chr7:148826443 [GRCh38]
Chr7:148523535 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1267A>G (p.Ile423Val) single nucleotide variant Weaver syndrome [RCV003612113] Chr7:148817365 [GRCh38]
Chr7:148514457 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1054C>G (p.Pro352Ala) single nucleotide variant Weaver syndrome [RCV003612135] Chr7:148818063 [GRCh38]
Chr7:148515155 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2029+4T>C single nucleotide variant Weaver syndrome [RCV003612652] Chr7:148810329 [GRCh38]
Chr7:148507421 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1547-8T>C single nucleotide variant Weaver syndrome [RCV003612199] Chr7:148815047 [GRCh38]
Chr7:148512139 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1347T>C (p.Ile449=) single nucleotide variant Weaver syndrome [RCV003613349] Chr7:148817285 [GRCh38]
Chr7:148514377 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1505+12A>T single nucleotide variant Weaver syndrome [RCV003611680] Chr7:148816672 [GRCh38]
Chr7:148513764 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.813T>C (p.Ser271=) single nucleotide variant Weaver syndrome [RCV003612859] Chr7:148826548 [GRCh38]
Chr7:148523640 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.900C>G (p.Cys300Trp) single nucleotide variant Weaver syndrome [RCV003611788] Chr7:148826461 [GRCh38]
Chr7:148523553 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1488A>G (p.Lys496=) single nucleotide variant Weaver syndrome [RCV003612405] Chr7:148816701 [GRCh38]
Chr7:148513793 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1949T>C (p.Ile650Thr) single nucleotide variant Weaver syndrome [RCV003835556] Chr7:148810413 [GRCh38]
Chr7:148507505 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.310G>A (p.Val104Ile) single nucleotide variant Weaver syndrome [RCV003612447] Chr7:148832687 [GRCh38]
Chr7:148529779 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1024G>C (p.Ala342Pro) single nucleotide variant Weaver syndrome [RCV003612483] Chr7:148818093 [GRCh38]
Chr7:148515185 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1659A>G (p.Gln553=) single nucleotide variant Weaver syndrome [RCV003611993] Chr7:148814927 [GRCh38]
Chr7:148512019 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1467T>C (p.Asp489=) single nucleotide variant Weaver syndrome [RCV003611391] Chr7:148816722 [GRCh38]
Chr7:148513814 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.51G>A (p.Lys17=) single nucleotide variant Weaver syndrome [RCV003612035] Chr7:148847248 [GRCh38]
Chr7:148544340 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1240+13T>G single nucleotide variant Weaver syndrome [RCV003613185] Chr7:148817864 [GRCh38]
Chr7:148514956 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2058T>G (p.Gly686=) single nucleotide variant Weaver syndrome [RCV003502108] Chr7:148809362 [GRCh38]
Chr7:148506454 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1948-18C>T single nucleotide variant Weaver syndrome [RCV003502110] Chr7:148810432 [GRCh38]
Chr7:148507524 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.300T>C (p.Thr100=) single nucleotide variant Weaver syndrome [RCV003837569] Chr7:148832697 [GRCh38]
Chr7:148529789 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1672+19G>C single nucleotide variant Weaver syndrome [RCV003502155] Chr7:148814895 [GRCh38]
Chr7:148511987 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.484+8A>G single nucleotide variant Weaver syndrome [RCV003612901] Chr7:148829720 [GRCh38]
Chr7:148526812 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1456C>G (p.Pro486Ala) single nucleotide variant Weaver syndrome [RCV003502190]|not provided [RCV004723379] Chr7:148816733 [GRCh38]
Chr7:148513825 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.285C>A (p.Val95=) single nucleotide variant Weaver syndrome [RCV003612122] Chr7:148832712 [GRCh38]
Chr7:148529804 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.492G>A (p.Gly164=) single nucleotide variant Weaver syndrome [RCV003612150] Chr7:148828873 [GRCh38]
Chr7:148525965 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1000-13T>C single nucleotide variant Weaver syndrome [RCV003613422] Chr7:148818130 [GRCh38]
Chr7:148515222 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1672+14G>A single nucleotide variant Weaver syndrome [RCV003502443] Chr7:148814900 [GRCh38]
Chr7:148511992 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2030-10T>C single nucleotide variant Weaver syndrome [RCV003611312] Chr7:148809400 [GRCh38]
Chr7:148506492 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2220G>C (p.Lys740Asn) single nucleotide variant Weaver syndrome [RCV003612487] Chr7:148807682 [GRCh38]
Chr7:148504774 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.741C>T (p.Leu247=) single nucleotide variant Weaver syndrome [RCV003611355] Chr7:148826620 [GRCh38]
Chr7:148523712 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2199C>T (p.Tyr733=) single nucleotide variant Weaver syndrome [RCV003612098] Chr7:148807703 [GRCh38]
Chr7:148504795 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2113A>G (p.Met705Val) single nucleotide variant Weaver syndrome [RCV003612067] Chr7:148809153 [GRCh38]
Chr7:148506245 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.787A>G (p.Asn263Asp) single nucleotide variant Weaver syndrome [RCV003612614] Chr7:148826574 [GRCh38]
Chr7:148523666 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2214C>T (p.Ala738=) single nucleotide variant Weaver syndrome [RCV003612164] Chr7:148807688 [GRCh38]
Chr7:148504780 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.485-14T>C single nucleotide variant Weaver syndrome [RCV003613453] Chr7:148828894 [GRCh38]
Chr7:148525986 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1948-16G>C single nucleotide variant Weaver syndrome [RCV003502401] Chr7:148810430 [GRCh38]
Chr7:148507522 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.549T>A (p.Asp183Glu) single nucleotide variant Weaver syndrome [RCV003613098] Chr7:148828816 [GRCh38]
Chr7:148525908 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.626-6G>T single nucleotide variant Weaver syndrome [RCV003611394] Chr7:148827272 [GRCh38]
Chr7:148524364 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.285C>T (p.Val95=) single nucleotide variant Weaver syndrome [RCV003502130] Chr7:148832712 [GRCh38]
Chr7:148529804 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1551C>G (p.Gly517=) single nucleotide variant Weaver syndrome [RCV003611123] Chr7:148815035 [GRCh38]
Chr7:148512127 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.2111-8C>T single nucleotide variant Weaver syndrome [RCV003613518] Chr7:148809163 [GRCh38]
Chr7:148506255 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1672+20A>G single nucleotide variant Weaver syndrome [RCV003613104] Chr7:148814894 [GRCh38]
Chr7:148511986 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1458C>G (p.Pro486=) single nucleotide variant Weaver syndrome [RCV003854128] Chr7:148816731 [GRCh38]
Chr7:148513823 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.968A>T (p.Lys323Ile) single nucleotide variant Weaver syndrome [RCV003866991] Chr7:148819627 [GRCh38]
Chr7:148516719 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_004456.5(EZH2):c.644C>T (p.Pro215Leu) single nucleotide variant Weaver syndrome [RCV003862254] Chr7:148827248 [GRCh38]
Chr7:148524340 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.964A>C (p.Asn322His) single nucleotide variant not provided [RCV003993264] Chr7:148819631 [GRCh38]
Chr7:148516723 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1154G>A (p.Ser385Asn) single nucleotide variant not provided [RCV003993359] Chr7:148817963 [GRCh38]
Chr7:148515055 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2230_2232dup (p.Ile744_Glu745insIle) duplication Weaver syndrome [RCV003991743] Chr7:148807669..148807670 [GRCh38]
Chr7:148504761..148504762 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2111-3_2115dup duplication Weaver syndrome [RCV003985222] Chr7:148809150..148809151 [GRCh38]
Chr7:148506242..148506243 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.2035G>C (p.Val679Leu) single nucleotide variant Weaver syndrome [RCV004017179] Chr7:148809385 [GRCh38]
Chr7:148506477 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_004456.5(EZH2):c.380T>G (p.Val127Gly) single nucleotide variant EZH2-related disorder [RCV004542645] Chr7:148829832 [GRCh38]
Chr7:148526924 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.394C>A (p.Pro132Thr) single nucleotide variant not provided [RCV003887446] Chr7:148829818 [GRCh38]
Chr7:148526910 [GRCh37]
Chr7:7q36.1		 likely pathogenic
GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3 copy number gain See cases [RCV004442845] Chr7:141690279..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_004456.5(EZH2):c.555_563del (p.Asp187_Asp189del) deletion Inborn genetic diseases [RCV004385755] Chr7:148828802..148828810 [GRCh38]
Chr7:148525894..148525902 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1180G>C (p.Gly394Arg) single nucleotide variant Inborn genetic diseases [RCV004385752] Chr7:148817937 [GRCh38]
Chr7:148515029 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1735T>C (p.Tyr579His) single nucleotide variant Inborn genetic diseases [RCV004385754] Chr7:148814075 [GRCh38]
Chr7:148511167 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.977G>T (p.Gly326Val) single nucleotide variant Inborn genetic diseases [RCV004623046] Chr7:148819618 [GRCh38]
Chr7:148516710 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1441A>G (p.Ile481Val) single nucleotide variant Inborn genetic diseases [RCV004623047] Chr7:148816748 [GRCh38]
Chr7:148513840 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.137G>A (p.Arg46His) single nucleotide variant not specified [RCV004586216] Chr7:148846579 [GRCh38]
Chr7:148543671 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_147259210)_(148544390_?)dup duplication Weaver syndrome [RCV004583477] Chr7:147259210..148544390 [GRCh37]
Chr7:7q35-36.1		 uncertain significance
NM_004456.5(EZH2):c.2154G>C (p.Lys718Asn) single nucleotide variant Inborn genetic diseases [RCV004623045] Chr7:148809112 [GRCh38]
Chr7:148506204 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1060C>T (p.Arg354Cys) single nucleotide variant EZH2-related disorder [RCV004726456] Chr7:148818057 [GRCh38]
Chr7:148515149 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1580C>T (p.Pro527Leu) single nucleotide variant not provided [RCV004763036]   uncertain significance
NM_004456.5(EZH2):c.590A>G (p.Glu197Gly) single nucleotide variant not provided [RCV004763819]   uncertain significance
NM_004456.5(EZH2):c.1063C>A (p.Pro355Thr) single nucleotide variant not provided [RCV004776149] Chr7:148818054 [GRCh38]
Chr7:148515146 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_004456.5(EZH2):c.1950T>C (p.Ile650=) single nucleotide variant EZH2-related disorder [RCV004736612] Chr7:148810412 [GRCh38]
Chr7:148507504 [GRCh37]
Chr7:7q36.1		 likely benign
NM_004456.5(EZH2):c.1843T>C (p.Ser615Pro) single nucleotide variant not provided [RCV004768980] Chr7:148813967 [GRCh38]
Chr7:148511059 [GRCh37]
Chr7:7q36.1		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR101-2hsa-miR-101-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19258506
MIR101-2hsa-miR-101-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19008416
MIR101-2hsa-miR-101-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19625769
MIR101-2hsa-miR-101-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19043531
MIR101-2hsa-miR-101-3pMirtarbaseexternal_infoqRT-PCRFunctional MTI (Weak)20712078
MIR101-2hsa-miR-101-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20478051
MIR101-2hsa-miR-101-3pMirtarbaseexternal_infoNorthern blotNon-Functional MTI (Weak)19818710
MIR98hsa-miR-98-5pMirtarbaseexternal_infoNorthern blotNon-Functional MTI (Weak)19818710
MIR98hsa-miR-98-5pOncomiRDBexternal_infoNANA21368858
MIR101-2hsa-miR-101-3pOncomiRDBexternal_infoNANA22977606
MIR101-2hsa-miR-101-3pOncomiRDBexternal_infoNANA21368858
MIR101-2hsa-miR-101-3pOncomiRDBexternal_infoNANA21270667
MIR101-2hsa-miR-101-3pOncomiRDBexternal_infoNANA20478051
MIR101-2hsa-miR-101-3pOncomiRDBexternal_infoNANA20444294
MIR101-2hsa-miR-101-3pOncomiRDBexternal_infoNANA19258506
MIR101-2hsa-miR-101-3pOncomiRDBexternal_infoNANA19008416
MIR25hsa-miR-25-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22399519
MIR25hsa-miR-25-3pOncomiRDBexternal_infoNANA22399519
MIR26A1hsa-miR-26a-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI18713946
MIR26A1hsa-miR-26a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20478051
MIR26A1hsa-miR-26a-5pMirtarbaseexternal_infoImmunohistochemistry//qRT-PCR//Western blotFunctional MTI21199804
MIR26A1hsa-miR-26a-5pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//qFunctional MTI20952513
MIR26A1hsa-miR-26a-5pMirtarbaseexternal_infoReporter assayFunctional MTI18281287
MIR26A1hsa-miR-26a-5pOncomiRDBexternal_infoNANA21368858
MIR26A1hsa-miR-26a-5pOncomiRDBexternal_infoNANA21199804
MIR26A1hsa-miR-26a-5pOncomiRDBexternal_infoNANA18713946
MIRLET7Bhsa-let-7b-5pOncomiRDBexternal_infoNANA22442719
MIR217hsa-miR-217Mirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotNon-Functional MTI19008416
MIRLET7Dhsa-let-7d-5pOncomiRDBexternal_infoNANA22442719
MIRLET7Ehsa-let-7e-5pOncomiRDBexternal_infoNANA22442719
MIRLET7Chsa-let-7c-5pOncomiRDBexternal_infoNANA22442719
MIRLET7A2hsa-let-7a-5pOncomiRDBexternal_infoNANA22442719
MIRLET7F1hsa-let-7f-5pOncomiRDBexternal_infoNANA22442719
MIR26A2hsa-miR-26a-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI18713946
MIR26A2hsa-miR-26a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20478051
MIR26A2hsa-miR-26a-5pMirtarbaseexternal_infoImmunohistochemistry//qRT-PCR//Western blotFunctional MTI21199804
MIR26A2hsa-miR-26a-5pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//qFunctional MTI20952513
MIR26A2hsa-miR-26a-5pMirtarbaseexternal_infoReporter assayFunctional MTI18281287
MIR199A1hsa-miR-199a-5pMirtarbaseexternal_infoLuciferase reporter assay//Northern blotNon-Functional MTI19818710
MIRLET7F2hsa-let-7f-5pOncomiRDBexternal_infoNANA22442719
MIR26A2hsa-miR-26a-5pOncomiRDBexternal_infoNANA21368858
MIR26A2hsa-miR-26a-5pOncomiRDBexternal_infoNANA21199804
MIR26A2hsa-miR-26a-5pOncomiRDBexternal_infoNANA18713946
MIRLET7Ghsa-let-7g-5pOncomiRDBexternal_infoNANA22442719
MIR214hsa-miR-214-3pMirtarbaseexternal_infoLuciferase reporter assay//Northern blotFunctional MTI19818710
MIR214hsa-miR-214-3pOncomiRDBexternal_infoNANA22962603
MIR138-2hsa-miR-138-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI23343715
MIR138-2hsa-miR-138-5pMirtarbaseexternal_infoReporter assay;Western blot;qRT-PCR;OtherFunctional MTI21770894
MIR138-2hsa-miR-138-5pTarbaseexternal_infoOtherNEGATIVE
MIRLET7Ihsa-let-7i-5pOncomiRDBexternal_infoNANA22442719
MIR138-2hsa-miR-138-5pOncomiRDBexternal_infoNANA23343715
MIR214hsa-miR-214-3pOncomiRDBexternal_infoNANA21828058
MIR138-1hsa-miR-138-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI23343715
MIR138-1hsa-miR-138-5pMirtarbaseexternal_infoReporter assay;Western blot;qRT-PCR;OtherFunctional MTI21770894
MIR138-1hsa-miR-138-5pTarbaseexternal_infoOtherNEGATIVE
MIR138-1hsa-miR-138-5pOncomiRDBexternal_infoNANA23343715
MIR101-1hsa-miR-101-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19258506
MIR101-1hsa-miR-101-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19008416
MIR101-1hsa-miR-101-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19625769
MIR101-1hsa-miR-101-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19043531
MIR101-1hsa-miR-101-3pMirtarbaseexternal_infoqRT-PCRFunctional MTI (Weak)20712078
MIR101-1hsa-miR-101-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20478051
MIR101-1hsa-miR-101-3pMirtarbaseexternal_infoNorthern blotNon-Functional MTI (Weak)19818710
MIR101-1hsa-miR-101-3pOncomiRDBexternal_infoNANA22977606
MIR101-1hsa-miR-101-3pOncomiRDBexternal_infoNANA21368858
MIR101-1hsa-miR-101-3pOncomiRDBexternal_infoNANA21270667
MIR101-1hsa-miR-101-3pOncomiRDBexternal_infoNANA20478051
MIR101-1hsa-miR-101-3pOncomiRDBexternal_infoNANA20444294
MIR101-1hsa-miR-101-3pOncomiRDBexternal_infoNANA19258506
MIR101-1hsa-miR-101-3pOncomiRDBexternal_infoNANA19008416
MIR31hsa-miR-31-5pOncomiRDBexternal_infoNANA22948084
MIRLET7A1hsa-let-7a-5pOncomiRDBexternal_infoNANA22442719
MIR30Dhsa-miR-30d-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22399519
MIR30Dhsa-miR-30d-5pOncomiRDBexternal_infoNANA22399519

Predicted Target Of
Summary Value
Count of predictions:2654
Count of miRNA genes:984
Interacting mature miRNAs:1164
Transcripts:ENST00000320356, ENST00000350995, ENST00000460911, ENST00000469631, ENST00000476773, ENST00000478654, ENST00000483012, ENST00000483967, ENST00000492143, ENST00000498186, ENST00000536783, ENST00000541220
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559221SCL67_HSerum cholesterol level QTL 67 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
1578618SCL127_HSerum cholesterol level QTL 127 (human)3.7Lipid leveltriglyceride7141776251159345973Human
407010240GWAS659216_Hchronotype measurement QTL GWAS659216 (human)4e-08chronotype measurement7148867275148867276Human
407038598GWAS687574_Hmean reticulocyte volume QTL GWAS687574 (human)4e-09reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)7148883717148883718Human
1559218SCL69_HSerum cholesterol level QTL 69 (human)3.410.002Lipid leveltriglyceride7141776251159345973Human
407114113GWAS763089_Hmean corpuscular volume QTL GWAS763089 (human)1e-09mean corpuscular volumemean corpuscular volume (CMO:0000038)7148883717148883718Human
1559263SCL72_HSerum cholesterol level QTL 72 (human)3.25Lipid leveltriglyceride7141776251159345973Human
1578610SCL128_HSerum cholesterol level QTL 128 (human)2.2Lipid levelLDL cholesterol7141776251159345973Human
407076425GWAS725401_Hsquamous cell lung carcinoma, family history of lung cancer QTL GWAS725401 (human)0.000002squamous cell lung carcinoma, family history of lung cancer7148869599148869600Human
407343209GWAS992185_Hurate measurement QTL GWAS992185 (human)2e-10urate measurementblood uric acid level (CMO:0000501)7148867046148867047Human
407383847GWAS1032823_Hobsolete_red blood cell distribution width QTL GWAS1032823 (human)2e-09obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)7148857243148857244Human
407336887GWAS985863_Huric acid measurement QTL GWAS985863 (human)1e-08uric acid measurementblood uric acid level (CMO:0000501)7148867046148867047Human
407342902GWAS991878_Hurate measurement QTL GWAS991878 (human)1e-09urate measurementblood uric acid level (CMO:0000501)7148867046148867047Human
1559237SCL70_HSerum cholesterol level QTL 70 (human)3.520.002Lipid leveltriglyceride7141776251159345973Human
1559232SCL66_HSerum cholesterol level QTL 66 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
1559264SCL68_HSerum cholesterol level QTL 68 (human)3.10.002Lipid leveltriglyceride7141776251159345973Human
1559213SCL71_HSerum cholesterol level QTL 71 (human)3.46Lipid leveltriglyceride7141776251159345973Human
406920606GWAS569582_Hsmoking initiation QTL GWAS569582 (human)3e-09smoking initiation7148873188148873189Human

Markers in Region
D7S688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377148,543,898 - 148,544,056UniSTSGRCh37
GRCh377148,543,893 - 148,544,032UniSTSGRCh37
Build 367148,174,826 - 148,174,965RGDNCBI36
Celera7143,214,316 - 143,214,455RGD
Celera7143,214,321 - 143,214,479UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7q35-q36UniSTS
HuRef7142,622,876 - 142,623,017UniSTS
HuRef7142,622,881 - 142,623,041UniSTS
CRA_TCAGchr7v27147,881,857 - 147,882,009UniSTS
CRA_TCAGchr7v27147,881,852 - 147,881,985UniSTS
Marshfield Genetic Map7159.53UniSTS
Marshfield Genetic Map7159.53RGD
Genethon Genetic Map7162.3UniSTS
Stanford-G3 RH Map77589.0UniSTS
GeneMap99-GB4 RH Map7675.32UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map71502.2UniSTS
GeneMap99-G3 RH Map78132.0UniSTS
RH120228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377148,516,139 - 148,516,409UniSTSGRCh37
Build 367148,147,072 - 148,147,342RGDNCBI36
Celera7143,186,562 - 143,186,832RGD
Cytogenetic Map7q35-q36UniSTS
Cytogenetic Map7q36.1UniSTS
HuRef7142,595,135 - 142,595,405UniSTS
CRA_TCAGchr7v27147,854,092 - 147,854,362UniSTS
TNG Radiation Hybrid Map766526.0UniSTS
RH123504  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377148,515,604 - 148,515,936UniSTSGRCh37
Build 367148,146,537 - 148,146,869RGDNCBI36
Celera7143,186,027 - 143,186,359RGD
Cytogenetic Map7q35-q36UniSTS
HuRef7142,594,600 - 142,594,932UniSTS
CRA_TCAGchr7v27147,853,557 - 147,853,889UniSTS
TNG Radiation Hybrid Map766519.0UniSTS
SHGC-132531  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377148,543,838 - 148,544,057UniSTSGRCh37
Build 367148,174,771 - 148,174,990RGDNCBI36
Celera7143,214,261 - 143,214,480RGD
Cytogenetic Map7q35-q36UniSTS
HuRef7142,622,821 - 142,623,042UniSTS
CRA_TCAGchr7v27147,881,797 - 147,882,010UniSTS
TNG Radiation Hybrid Map766479.0UniSTS
EZH2_7791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377148,504,343 - 148,504,743UniSTSGRCh37
Build 367148,135,276 - 148,135,676RGDNCBI36
Celera7143,174,766 - 143,175,166RGD
HuRef7142,583,339 - 142,583,739UniSTS
CRA_TCAGchr7v27147,842,296 - 147,842,696UniSTS
D7S688  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q35-q36UniSTS
Stanford-G3 RH Map77589.0UniSTS
GeneMap99-GB4 RH Map7675.32UniSTS
NCBI RH Map71502.2UniSTS
GeneMap99-G3 RH Map78132.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2250 4973 1726 2351 6 624 1951 465 2270 7302 6468 53 3733 1 851 1742 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001203247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001203248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001203249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A58329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AACC02000041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
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  AY519465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
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Ensembl Acc Id: ENST00000320356   ⟹   ENSP00000320147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,807,383 - 148,884,291 (-)Ensembl
Ensembl Acc Id: ENST00000350995   ⟹   ENSP00000223193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,807,385 - 148,884,248 (-)Ensembl
Ensembl Acc Id: ENST00000460911   ⟹   ENSP00000419711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,807,385 - 148,884,245 (-)Ensembl
Ensembl Acc Id: ENST00000469631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,810,200 - 148,811,823 (-)Ensembl
Ensembl Acc Id: ENST00000476773   ⟹   ENSP00000419050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,807,482 - 148,883,509 (-)Ensembl
Ensembl Acc Id: ENST00000478654   ⟹   ENSP00000417062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,807,384 - 148,884,159 (-)Ensembl
Ensembl Acc Id: ENST00000483012   ⟹   ENSP00000417704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,818,037 - 148,884,321 (-)Ensembl
Ensembl Acc Id: ENST00000483967   ⟹   ENSP00000419856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,807,525 - 148,884,287 (-)Ensembl
Ensembl Acc Id: ENST00000492143   ⟹   ENSP00000417377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,807,383 - 148,884,283 (-)Ensembl
Ensembl Acc Id: ENST00000498186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,817,357 - 148,884,287 (-)Ensembl
Ensembl Acc Id: ENST00000682263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,807,435 - 148,884,304 (-)Ensembl
Ensembl Acc Id: ENST00000682317   ⟹   ENSP00000508286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,807,430 - 148,884,269 (-)Ensembl
Ensembl Acc Id: ENST00000682401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,818,863 - 148,846,551 (-)Ensembl
Ensembl Acc Id: ENST00000683292   ⟹   ENSP00000507503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,807,257 - 148,884,280 (-)Ensembl
Ensembl Acc Id: ENST00000683293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,807,432 - 148,817,528 (-)Ensembl
Ensembl Acc Id: ENST00000683744   ⟹   ENSP00000506949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,807,420 - 148,884,314 (-)Ensembl
Ensembl Acc Id: ENST00000684300   ⟹   ENSP00000508407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,807,462 - 148,871,367 (-)Ensembl
Ensembl Acc Id: ENST00000684400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,807,387 - 148,816,700 (-)Ensembl
Ensembl Acc Id: ENST00000684436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,807,534 - 148,818,504 (-)Ensembl
Ensembl Acc Id: ENST00000684510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,807,420 - 148,820,869 (-)Ensembl
RefSeq Acc Id: NM_001203247   ⟹   NP_001190176
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,291 (-)NCBI
GRCh377148,504,464 - 148,581,441 (-)ENTREZGENE
HuRef7142,583,460 - 142,659,958 (-)ENTREZGENE
CHM1_17148,512,861 - 148,589,845 (-)NCBI
T2T-CHM13v2.07149,989,157 - 150,066,070 (-)NCBI
CRA_TCAGchr7v27147,842,417 - 147,919,393 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001203248   ⟹   NP_001190177
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,291 (-)NCBI
GRCh377148,504,464 - 148,581,441 (-)ENTREZGENE
HuRef7142,583,460 - 142,659,958 (-)ENTREZGENE
CHM1_17148,512,861 - 148,589,845 (-)NCBI
T2T-CHM13v2.07149,989,157 - 150,066,070 (-)NCBI
CRA_TCAGchr7v27147,842,417 - 147,919,393 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001203249   ⟹   NP_001190178
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,883,485 (-)NCBI
GRCh377148,504,464 - 148,581,441 (-)ENTREZGENE
HuRef7142,583,460 - 142,659,958 (-)ENTREZGENE
CHM1_17148,512,861 - 148,589,005 (-)NCBI
T2T-CHM13v2.07149,989,157 - 150,065,264 (-)NCBI
CRA_TCAGchr7v27147,842,417 - 147,919,393 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_004456   ⟹   NP_004447
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,291 (-)NCBI
GRCh377148,504,464 - 148,581,441 (-)ENTREZGENE
Build 367148,135,408 - 148,212,347 (-)NCBI Archive
HuRef7142,583,460 - 142,659,958 (-)ENTREZGENE
CHM1_17148,512,861 - 148,589,845 (-)NCBI
T2T-CHM13v2.07149,989,157 - 150,066,070 (-)NCBI
CRA_TCAGchr7v27147,842,417 - 147,919,393 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_152998   ⟹   NP_694543
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,291 (-)NCBI
GRCh377148,504,464 - 148,581,441 (-)ENTREZGENE
Build 367148,135,408 - 148,212,347 (-)NCBI Archive
HuRef7142,583,460 - 142,659,958 (-)ENTREZGENE
CHM1_17148,512,861 - 148,589,845 (-)NCBI
T2T-CHM13v2.07149,989,157 - 150,066,070 (-)NCBI
CRA_TCAGchr7v27147,842,417 - 147,919,393 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_005249962   ⟹   XP_005250019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,883,485 (-)NCBI
GRCh377148,504,464 - 148,581,441 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005249963   ⟹   XP_005250020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,860,329 (-)NCBI
GRCh377148,504,464 - 148,581,441 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005249964   ⟹   XP_005250021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,860,329 (-)NCBI
GRCh377148,504,464 - 148,581,441 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515883   ⟹   XP_011514185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,148 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515885   ⟹   XP_011514187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,860,329 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515887   ⟹   XP_011514189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,291 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515889   ⟹   XP_011514191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,847,278 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515890   ⟹   XP_011514192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,860,329 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515892   ⟹   XP_011514194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,860,329 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515893   ⟹   XP_011514195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,860,329 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515894   ⟹   XP_011514196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,291 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515895   ⟹   XP_011514197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,860,329 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515896   ⟹   XP_011514198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,860,329 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515899   ⟹   XP_011514201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,815,553 - 148,860,329 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515901   ⟹   XP_011514203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,814,066 - 148,860,329 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011817   ⟹   XP_016867306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,860,329 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011819   ⟹   XP_016867308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,860,329 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011820   ⟹   XP_016867309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,291 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047419989   ⟹   XP_047275945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,883,485 (-)NCBI
RefSeq Acc Id: XM_047419990   ⟹   XP_047275946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,176 (-)NCBI
RefSeq Acc Id: XM_047419991   ⟹   XP_047275947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,868,408 (-)NCBI
RefSeq Acc Id: XM_047419992   ⟹   XP_047275948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,168 (-)NCBI
RefSeq Acc Id: XM_047419993   ⟹   XP_047275949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,161 (-)NCBI
RefSeq Acc Id: XM_047419994   ⟹   XP_047275950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,116 (-)NCBI
RefSeq Acc Id: XM_047419995   ⟹   XP_047275951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,847,278 (-)NCBI
RefSeq Acc Id: XM_047419996   ⟹   XP_047275952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,847,278 (-)NCBI
RefSeq Acc Id: XM_047419997   ⟹   XP_047275953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,170 (-)NCBI
RefSeq Acc Id: XM_047419998   ⟹   XP_047275954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,153 (-)NCBI
RefSeq Acc Id: XM_047419999   ⟹   XP_047275955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,291 (-)NCBI
RefSeq Acc Id: XM_047420000   ⟹   XP_047275956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,860,329 (-)NCBI
RefSeq Acc Id: XM_047420001   ⟹   XP_047275957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,291 (-)NCBI
RefSeq Acc Id: XM_047420002   ⟹   XP_047275958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,291 (-)NCBI
RefSeq Acc Id: XM_047420004   ⟹   XP_047275960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,884,291 (-)NCBI
RefSeq Acc Id: XM_047420005   ⟹   XP_047275961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,846,578 (-)NCBI
RefSeq Acc Id: XM_047420006   ⟹   XP_047275962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,807,383 - 148,846,530 (-)NCBI
RefSeq Acc Id: XM_047420007   ⟹   XP_047275963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,815,553 - 148,884,291 (-)NCBI
RefSeq Acc Id: XM_047420008   ⟹   XP_047275964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,814,931 - 148,860,329 (-)NCBI
RefSeq Acc Id: XM_047420009   ⟹   XP_047275965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,816,699 - 148,860,329 (-)NCBI
RefSeq Acc Id: XM_054357480   ⟹   XP_054213455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,042,890 (-)NCBI
RefSeq Acc Id: XM_054357481   ⟹   XP_054213456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,065,264 (-)NCBI
RefSeq Acc Id: XM_054357482   ⟹   XP_054213457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,065,927 (-)NCBI
RefSeq Acc Id: XM_054357483   ⟹   XP_054213458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,065,264 (-)NCBI
RefSeq Acc Id: XM_054357484   ⟹   XP_054213459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,065,955 (-)NCBI
RefSeq Acc Id: XM_054357485   ⟹   XP_054213460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,042,890 (-)NCBI
RefSeq Acc Id: XM_054357486   ⟹   XP_054213461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,065,947 (-)NCBI
RefSeq Acc Id: XM_054357487   ⟹   XP_054213462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,042,888 (-)NCBI
RefSeq Acc Id: XM_054357488   ⟹   XP_054213463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,065,940 (-)NCBI
RefSeq Acc Id: XM_054357489   ⟹   XP_054213464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,065,895 (-)NCBI
RefSeq Acc Id: XM_054357490   ⟹   XP_054213465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,029,057 (-)NCBI
RefSeq Acc Id: XM_054357491   ⟹   XP_054213466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,066,070 (-)NCBI
RefSeq Acc Id: XM_054357492   ⟹   XP_054213467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,029,057 (-)NCBI
RefSeq Acc Id: XM_054357493   ⟹   XP_054213468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,065,949 (-)NCBI
RefSeq Acc Id: XM_054357494   ⟹   XP_054213469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,029,057 (-)NCBI
RefSeq Acc Id: XM_054357495   ⟹   XP_054213470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,042,890 (-)NCBI
RefSeq Acc Id: XM_054357496   ⟹   XP_054213471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,042,892 (-)NCBI
RefSeq Acc Id: XM_054357497   ⟹   XP_054213472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,042,888 (-)NCBI
RefSeq Acc Id: XM_054357498   ⟹   XP_054213473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,065,932 (-)NCBI
RefSeq Acc Id: XM_054357499   ⟹   XP_054213474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,066,070 (-)NCBI
RefSeq Acc Id: XM_054357500   ⟹   XP_054213475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,042,890 (-)NCBI
RefSeq Acc Id: XM_054357501   ⟹   XP_054213476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,042,890 (-)NCBI
RefSeq Acc Id: XM_054357502   ⟹   XP_054213477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,066,070 (-)NCBI
RefSeq Acc Id: XM_054357503   ⟹   XP_054213478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,042,888 (-)NCBI
RefSeq Acc Id: XM_054357504   ⟹   XP_054213479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,066,070 (-)NCBI
RefSeq Acc Id: XM_054357505   ⟹   XP_054213480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,066,070 (-)NCBI
RefSeq Acc Id: XM_054357506   ⟹   XP_054213481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,042,890 (-)NCBI
RefSeq Acc Id: XM_054357507   ⟹   XP_054213482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,066,070 (-)NCBI
RefSeq Acc Id: XM_054357508   ⟹   XP_054213483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,042,890 (-)NCBI
RefSeq Acc Id: XM_054357509   ⟹   XP_054213484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,066,070 (-)NCBI
RefSeq Acc Id: XM_054357510   ⟹   XP_054213485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,028,359 (-)NCBI
RefSeq Acc Id: XM_054357511   ⟹   XP_054213486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,989,157 - 150,028,311 (-)NCBI
RefSeq Acc Id: XM_054357512   ⟹   XP_054213487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,997,327 - 150,042,894 (-)NCBI
RefSeq Acc Id: XM_054357513   ⟹   XP_054213488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,997,327 - 150,066,070 (-)NCBI
RefSeq Acc Id: XM_054357514   ⟹   XP_054213489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,996,705 - 150,042,894 (-)NCBI
RefSeq Acc Id: XM_054357515   ⟹   XP_054213490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,995,840 - 150,042,894 (-)NCBI
RefSeq Acc Id: XM_054357516   ⟹   XP_054213491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07149,998,473 - 150,042,894 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001190176 (Get FASTA)   NCBI Sequence Viewer  
  NP_001190177 (Get FASTA)   NCBI Sequence Viewer  
  NP_001190178 (Get FASTA)   NCBI Sequence Viewer  
  NP_004447 (Get FASTA)   NCBI Sequence Viewer  
  NP_694543 (Get FASTA)   NCBI Sequence Viewer  
  XP_005250019 (Get FASTA)   NCBI Sequence Viewer  
  XP_005250020 (Get FASTA)   NCBI Sequence Viewer  
  XP_005250021 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514185 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514187 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514189 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514191 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514192 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514194 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514195 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514196 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514197 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514198 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514201 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514203 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867306 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867308 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867309 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275945 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275946 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275947 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275948 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275949 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275950 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275951 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275952 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275953 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275954 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275955 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275956 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275957 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275958 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275960 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275961 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275962 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275963 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275964 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275965 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213455 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213456 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213457 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213458 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213459 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213460 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213461 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213462 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213463 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213464 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213465 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213466 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213467 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213468 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213469 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213470 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213471 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213472 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213473 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213474 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213475 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213476 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213477 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213478 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213479 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213480 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213481 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213482 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213483 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213484 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213485 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213486 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213487 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213488 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213489 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213490 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213491 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC50591 (Get FASTA)   NCBI Sequence Viewer  
  AAC51520 (Get FASTA)   NCBI Sequence Viewer  
  AAH10858 (Get FASTA)   NCBI Sequence Viewer  
  AAS02035 (Get FASTA)   NCBI Sequence Viewer  
  AAS02036 (Get FASTA)   NCBI Sequence Viewer  
  AAS07448 (Get FASTA)   NCBI Sequence Viewer  
  AAS09975 (Get FASTA)   NCBI Sequence Viewer  
  AEA07595 (Get FASTA)   NCBI Sequence Viewer  
  AEN79481 (Get FASTA)   NCBI Sequence Viewer  
  BAD92132 (Get FASTA)   NCBI Sequence Viewer  
  BAG36948 (Get FASTA)   NCBI Sequence Viewer  
  BAG52592 (Get FASTA)   NCBI Sequence Viewer  
  BAH11472 (Get FASTA)   NCBI Sequence Viewer  
  BAH13652 (Get FASTA)   NCBI Sequence Viewer  
  BAH13991 (Get FASTA)   NCBI Sequence Viewer  
  BAH14002 (Get FASTA)   NCBI Sequence Viewer  
  CAA03482 (Get FASTA)   NCBI Sequence Viewer  
  CAA64955 (Get FASTA)   NCBI Sequence Viewer  
  CCO13726 (Get FASTA)   NCBI Sequence Viewer  
  EAL24423 (Get FASTA)   NCBI Sequence Viewer  
  EAL24424 (Get FASTA)   NCBI Sequence Viewer  
  EAW80067 (Get FASTA)   NCBI Sequence Viewer  
  EAW80068 (Get FASTA)   NCBI Sequence Viewer  
  EAW80069 (Get FASTA)   NCBI Sequence Viewer  
  EAW80070 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000223193
  ENSP00000223193.2
  ENSP00000320147
  ENSP00000320147.2
  ENSP00000417062.1
  ENSP00000417377.1
  ENSP00000417704.1
  ENSP00000419050
  ENSP00000419050.1
  ENSP00000419711
  ENSP00000419711.1
  ENSP00000419856
  ENSP00000419856.1
  ENSP00000506949.1
  ENSP00000507503.1
  ENSP00000508286.1
  ENSP00000508407.1
GenBank Protein Q15910 (Get FASTA)   NCBI Sequence Viewer  
  WHP70863 (Get FASTA)   NCBI Sequence Viewer  
  WHP70864 (Get FASTA)   NCBI Sequence Viewer  
  WHP70865 (Get FASTA)   NCBI Sequence Viewer  
  WHP70866 (Get FASTA)   NCBI Sequence Viewer  
  WHP70867 (Get FASTA)   NCBI Sequence Viewer  
  WHP70868 (Get FASTA)   NCBI Sequence Viewer  
  WHP70869 (Get FASTA)   NCBI Sequence Viewer  
  WHP70870 (Get FASTA)   NCBI Sequence Viewer  
  WHP70871 (Get FASTA)   NCBI Sequence Viewer  
  WHP70872 (Get FASTA)   NCBI Sequence Viewer  
  WHP70873 (Get FASTA)   NCBI Sequence Viewer  
  WHP70874 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001190177   ⟸   NM_001203248
- Peptide Label: isoform d
- UniProtKB: Q75MP9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_694543   ⟸   NM_152998
- Peptide Label: isoform b
- UniProtKB: S4S3R8 (UniProtKB/TrEMBL),   Q75MP9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001190176   ⟸   NM_001203247
- Peptide Label: isoform c
- UniProtKB: Q92857 (UniProtKB/Swiss-Prot),   Q75MG3 (UniProtKB/Swiss-Prot),   Q15755 (UniProtKB/Swiss-Prot),   B7Z7L6 (UniProtKB/Swiss-Prot),   B7Z1D6 (UniProtKB/Swiss-Prot),   B3KS30 (UniProtKB/Swiss-Prot),   B2RAQ1 (UniProtKB/Swiss-Prot),   Q96FI6 (UniProtKB/Swiss-Prot),   Q15910 (UniProtKB/Swiss-Prot),   Q75MP9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004447   ⟸   NM_004456
- Peptide Label: isoform a
- UniProtKB: A0A090N8E9 (UniProtKB/TrEMBL),   Q75MQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001190178   ⟸   NM_001203249
- Peptide Label: isoform e
- UniProtKB: Q75MP9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005250019   ⟸   XM_005249962
- Peptide Label: isoform X2
- UniProtKB: Q75MP9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005250021   ⟸   XM_005249964
- Peptide Label: isoform X21
- UniProtKB: Q75MP9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005250020   ⟸   XM_005249963
- Peptide Label: isoform X5
- UniProtKB: Q75MP9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514189   ⟸   XM_011515887
- Peptide Label: isoform X7
- UniProtKB: Q75MQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514196   ⟸   XM_011515894
- Peptide Label: isoform X14
- UniProtKB: Q75MQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514185   ⟸   XM_011515883
- Peptide Label: isoform X1
- UniProtKB: Q75MQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514197   ⟸   XM_011515895
- Peptide Label: isoform X16
- UniProtKB: Q75MQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514187   ⟸   XM_011515885
- Peptide Label: isoform X3
- UniProtKB: Q75MQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514198   ⟸   XM_011515896
- Peptide Label: isoform X23
- UniProtKB: Q75MP9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514195   ⟸   XM_011515893
- Peptide Label: isoform X13
- UniProtKB: Q75MP9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514192   ⟸   XM_011515890
- Peptide Label: isoform X11
- UniProtKB: Q75MQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514194   ⟸   XM_011515892
- Peptide Label: isoform X12
- UniProtKB: Q75MQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514191   ⟸   XM_011515889
- Peptide Label: isoform X10
- UniProtKB: Q75MQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514203   ⟸   XM_011515901
- Peptide Label: isoform X28
- UniProtKB: B7Z8K5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514201   ⟸   XM_011515899
- Peptide Label: isoform X26
- Sequence:
RefSeq Acc Id: XP_016867308   ⟸   XM_017011819
- Peptide Label: isoform X15
- UniProtKB: Q75MP9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867309   ⟸   XM_017011820
- Peptide Label: isoform X20
- UniProtKB: Q75MQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867306   ⟸   XM_017011817
- Peptide Label: isoform X1
- UniProtKB: Q75MQ0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000417062   ⟸   ENST00000478654
Ensembl Acc Id: ENSP00000320147   ⟸   ENST00000320356
Ensembl Acc Id: ENSP00000417377   ⟸   ENST00000492143
Ensembl Acc Id: ENSP00000223193   ⟸   ENST00000350995
Ensembl Acc Id: ENSP00000419856   ⟸   ENST00000483967
Ensembl Acc Id: ENSP00000417704   ⟸   ENST00000483012
Ensembl Acc Id: ENSP00000419711   ⟸   ENST00000460911
Ensembl Acc Id: ENSP00000419050   ⟸   ENST00000476773
Ensembl Acc Id: ENSP00000507503   ⟸   ENST00000683292
Ensembl Acc Id: ENSP00000506949   ⟸   ENST00000683744
Ensembl Acc Id: ENSP00000508286   ⟸   ENST00000682317
Ensembl Acc Id: ENSP00000508407   ⟸   ENST00000684300
RefSeq Acc Id: XP_047275958   ⟸   XM_047420002
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047275960   ⟸   XM_047420004
- Peptide Label: isoform X24
- UniProtKB: F2YMM1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275957   ⟸   XM_047420001
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047275955   ⟸   XM_047419999
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047275946   ⟸   XM_047419990
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047275953   ⟸   XM_047419997
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047275948   ⟸   XM_047419992
- Peptide Label: isoform X4
- UniProtKB: Q92857 (UniProtKB/Swiss-Prot),   Q75MG3 (UniProtKB/Swiss-Prot),   Q15910 (UniProtKB/Swiss-Prot),   Q15755 (UniProtKB/Swiss-Prot),   B7Z7L6 (UniProtKB/Swiss-Prot),   B7Z1D6 (UniProtKB/Swiss-Prot),   B3KS30 (UniProtKB/Swiss-Prot),   B2RAQ1 (UniProtKB/Swiss-Prot),   Q96FI6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047275949   ⟸   XM_047419993
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047275954   ⟸   XM_047419998
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047275950   ⟸   XM_047419994
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047275945   ⟸   XM_047419989
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047275947   ⟸   XM_047419991
- Peptide Label: isoform X30
- UniProtKB: A0A090N8E9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275956   ⟸   XM_047420000
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047275952   ⟸   XM_047419996
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047275951   ⟸   XM_047419995
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047275961   ⟸   XM_047420005
- Peptide Label: isoform X25
RefSeq Acc Id: XP_047275962   ⟸   XM_047420006
- Peptide Label: isoform X25
RefSeq Acc Id: XP_047275964   ⟸   XM_047420008
- Peptide Label: isoform X28
RefSeq Acc Id: XP_047275963   ⟸   XM_047420007
- Peptide Label: isoform X27
RefSeq Acc Id: XP_047275965   ⟸   XM_047420009
- Peptide Label: isoform X29
RefSeq Acc Id: XP_054213482   ⟸   XM_054357507
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054213480   ⟸   XM_054357505
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054213466   ⟸   XM_054357491
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054213484   ⟸   XM_054357509
- Peptide Label: isoform X24
- UniProtKB: F2YMM1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213474   ⟸   XM_054357499
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054213479   ⟸   XM_054357504
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054213477   ⟸   XM_054357502
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054213459   ⟸   XM_054357484
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213468   ⟸   XM_054357493
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054213461   ⟸   XM_054357486
- Peptide Label: isoform X4
- UniProtKB: Q92857 (UniProtKB/Swiss-Prot),   Q75MG3 (UniProtKB/Swiss-Prot),   Q15910 (UniProtKB/Swiss-Prot),   Q15755 (UniProtKB/Swiss-Prot),   B7Z7L6 (UniProtKB/Swiss-Prot),   B7Z1D6 (UniProtKB/Swiss-Prot),   B3KS30 (UniProtKB/Swiss-Prot),   B2RAQ1 (UniProtKB/Swiss-Prot),   Q96FI6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054213463   ⟸   XM_054357488
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054213473   ⟸   XM_054357498
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054213457   ⟸   XM_054357482
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213464   ⟸   XM_054357489
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054213458   ⟸   XM_054357483
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213456   ⟸   XM_054357481
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213471   ⟸   XM_054357496
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054213476   ⟸   XM_054357501
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054213481   ⟸   XM_054357506
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054213460   ⟸   XM_054357485
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054213483   ⟸   XM_054357508
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054213470   ⟸   XM_054357495
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054213475   ⟸   XM_054357500
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054213455   ⟸   XM_054357480
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213478   ⟸   XM_054357503
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054213462   ⟸   XM_054357487
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054213472   ⟸   XM_054357497
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054213469   ⟸   XM_054357494
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054213467   ⟸   XM_054357492
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054213465   ⟸   XM_054357490
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054213485   ⟸   XM_054357510
- Peptide Label: isoform X25
RefSeq Acc Id: XP_054213486   ⟸   XM_054357511
- Peptide Label: isoform X25
RefSeq Acc Id: XP_054213490   ⟸   XM_054357515
- Peptide Label: isoform X28
RefSeq Acc Id: XP_054213489   ⟸   XM_054357514
- Peptide Label: isoform X28
RefSeq Acc Id: XP_054213488   ⟸   XM_054357513
- Peptide Label: isoform X27
RefSeq Acc Id: XP_054213487   ⟸   XM_054357512
- Peptide Label: isoform X26
RefSeq Acc Id: XP_054213491   ⟸   XM_054357516
- Peptide Label: isoform X29
Protein Domains
CXC   Myb-like   SET

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15910-F1-model_v2 AlphaFold Q15910 1-746 view protein structure

Promoters
RGD ID:6813170
Promoter ID:HG_ACW:74925
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:EZH2.NAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 367148,211,254 - 148,211,754 (-)MPROMDB
RGD ID:6805646
Promoter ID:HG_KWN:60192
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:NM_004456,   NM_152998,   UC003WFD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367148,211,866 - 148,213,067 (-)MPROMDB
RGD ID:7212211
Promoter ID:EPDNEW_H11851
Type:initiation region
Name:EZH2_1
Description:enhancer of zeste 2 polycomb repressive complex 2 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11852  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,884,248 - 148,884,308EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3527 AgrOrtholog
COSMIC EZH2 COSMIC
Ensembl Genes ENSG00000106462 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000320356 ENTREZGENE
  ENST00000320356.7 UniProtKB/Swiss-Prot
  ENST00000350995 ENTREZGENE
  ENST00000350995.6 UniProtKB/Swiss-Prot
  ENST00000460911 ENTREZGENE
  ENST00000460911.5 UniProtKB/Swiss-Prot
  ENST00000476773 ENTREZGENE
  ENST00000476773.5 UniProtKB/Swiss-Prot
  ENST00000478654.5 UniProtKB/Swiss-Prot
  ENST00000483012.1 UniProtKB/TrEMBL
  ENST00000483967 ENTREZGENE
  ENST00000483967.5 UniProtKB/Swiss-Prot
  ENST00000492143.5 UniProtKB/TrEMBL
  ENST00000682317.1 UniProtKB/TrEMBL
  ENST00000683292.1 UniProtKB/TrEMBL
  ENST00000683744.1 UniProtKB/TrEMBL
  ENST00000684300.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.1880 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.170.270.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106462 GTEx
HGNC ID HGNC:3527 ENTREZGENE
Human Proteome Map EZH2 Human Proteome Map
InterPro CXC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EZH1/2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EZH1/2_MCSS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EZH1/EZH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EZH2_SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRC2_HTH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pre-SET_CXC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SANT/Myb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tesmin/TSO1-like_CXC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2146 UniProtKB/Swiss-Prot
NCBI Gene 2146 ENTREZGENE
OMIM 601573 OMIM
PANTHER HISTONE-LYSINE N-METHYLTRANSFERASE EZH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45747 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ezh2_MCSS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EZH2_WD-Binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRC2_HTH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  preSET_CXC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27939 PharmGKB
PROSITE CXC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CXC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SANT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF82199 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A090N8E9 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJH1_HUMAN UniProtKB/TrEMBL
  A0A804HLB8_HUMAN UniProtKB/TrEMBL
  B2RAQ1 ENTREZGENE
  B3KS30 ENTREZGENE
  B7Z1D6 ENTREZGENE
  B7Z7L6 ENTREZGENE
  B7Z8K5 ENTREZGENE, UniProtKB/TrEMBL
  E9PDH6_HUMAN UniProtKB/TrEMBL
  EZH2_HUMAN UniProtKB/Swiss-Prot
  F2YMM1 ENTREZGENE, UniProtKB/TrEMBL
  G3XAL2_HUMAN UniProtKB/TrEMBL
  L0R855_HUMAN UniProtKB/TrEMBL
  Q15755 ENTREZGENE
  Q15910 ENTREZGENE
  Q6R125_HUMAN UniProtKB/TrEMBL
  Q75MG3 ENTREZGENE
  Q75MP9 ENTREZGENE, UniProtKB/TrEMBL
  Q75MQ0 ENTREZGENE, UniProtKB/TrEMBL
  Q92857 ENTREZGENE
  Q96FI6 ENTREZGENE
  S4S3R8 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2RAQ1 UniProtKB/Swiss-Prot
  B3KS30 UniProtKB/Swiss-Prot
  B7Z1D6 UniProtKB/Swiss-Prot
  B7Z7L6 UniProtKB/Swiss-Prot
  Q15755 UniProtKB/Swiss-Prot
  Q75MG3 UniProtKB/Swiss-Prot
  Q92857 UniProtKB/Swiss-Prot
  Q96FI6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-06-04 EZH2  enhancer of zeste 2 polycomb repressive complex 2 subunit    enhancer of zeste homolog 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED