DNMT3A (DNA methyltransferase 3 alpha) - Rat Genome Database

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Gene: DNMT3A (DNA methyltransferase 3 alpha) Homo sapiens
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Symbol: DNMT3A
Name: DNA methyltransferase 3 alpha
RGD ID: 1606038
HGNC Page HGNC:2978
Description: Enables several functions, including DNA (cytosine-5-)-methyltransferase activity; identical protein binding activity; and sequence-specific DNA binding activity. Involved in DNA methylation-dependent heterochromatin formation; negative regulation of gene expression via chromosomal CpG island methylation; and negative regulation of transcription by RNA polymerase II. Located in catalytic complex; cytoplasm; and nuclear lumen. Part of euchromatin. Implicated in Tatton-Brown-Rahman syndrome; hematologic cancer (multiple); and stomach cancer. Biomarker of autoimmune thrombocytopenic purpura; endometriosis (multiple); hepatocellular carcinoma; lung cancer; and myeloid leukemia (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cysteine methyltransferase DNMT3A; DNA (cytosine-5)-methyltransferase 3A; DNA (cytosine-5-)-methyltransferase 3 alpha; DNA cytosine methyltransferase 3A2; DNA methyltransferase HsaIIIA; DNA MTase HsaIIIA; DNMT3A2; HESJAS; M.HsaIIIA; TBRS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: DNMT3AP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38225,227,874 - 25,342,590 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl225,227,855 - 25,342,590 (-)EnsemblGRCh38hg38GRCh38
GRCh37225,450,743 - 25,565,459 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36225,309,349 - 25,418,963 (-)NCBINCBI36Build 36hg18NCBI36
Celera225,296,144 - 25,405,816 (-)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef225,193,733 - 25,302,862 (-)NCBIHuRef
CHM1_1225,385,740 - 25,495,369 (-)NCBICHM1_1
T2T-CHM13v2.0225,263,222 - 25,377,928 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute lymphoblastic leukemia  (IAGP)
acute monocytic leukemia  (EXP)
acute myeloid leukemia  (EXP,IAGP,IDA,IEP)
acute promyelocytic leukemia  (EXP)
amyotrophic lateral sclerosis  (ISO)
autism spectrum disorder  (EXP,IAGP)
autoimmune thrombocytopenic purpura  (IEP)
bone marrow disease  (ISO)
Brain Hypoxia-Ischemia  (ISO)
Breast Neoplasms  (EXP)
Carcinogenesis  (ISO)
chronic myeloid leukemia  (IEP)
clear cell renal cell carcinoma  (EXP)
congenital heart disease  (ISO)
Craniofacial Abnormalities  (EXP)
Crohn's disease  (EXP)
depressive disorder  (ISO)
diffuse large B-cell lymphoma  (IAGP)
Dwarfism  (EXP)
endometriosis  (IEP)
endometriosis of uterus  (IEP)
Facies  (EXP)
genetic disease  (IAGP)
glioblastoma  (IAGP)
Growth Disorders  (EXP)
hepatocellular carcinoma  (IEP,ISO)
Heyn-Sproul-Jackson Syndrome  (IAGP)
Immunoblastic Lymphadenopathy  (EXP)
intellectual disability  (EXP,IAGP)
juvenile myelomonocytic leukemia  (EXP)
lung adenocarcinoma  (IAGP)
lung cancer  (IEP)
lung carcinoma  (ISO)
Lung Neoplasms  (EXP)
melanoma  (IAGP)
microcephaly  (EXP)
middle cerebral artery infarction  (ISO)
multiple myeloma  (IAGP)
Muscle Hypotonia  (IAGP)
myelodysplastic syndrome  (EXP,IAGP)
myeloid neoplasm  (IAGP)
Neoplasm Recurrence, Local  (EXP)
Nervous System Malformations  (IAGP)
Neurodevelopmental Disorders  (IAGP)
obesity  (IAGP)
peripheral T-cell lymphoma  (EXP)
primary cutaneous T-cell non-Hodgkin lymphoma  (EXP)
prostate adenocarcinoma  (ISO)
prostatitis  (ISO)
sciatic neuropathy  (ISO)
Sezary's disease  (EXP)
stomach cancer  (IAGP)
T-cell acute lymphoblastic leukemia  (IAGP)
Tatton-Brown-Rahman syndrome  (EXP,IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(1->4)-beta-D-glucan  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nonylphenol  (EXP)
4-tert-Octylphenol  (EXP)
5-(hydroxymethyl)cytosine  (EXP)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-azacytidine  (EXP)
9-cis-retinoic acid  (EXP)
acetamide  (ISO)
acetylsalicylic acid  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
allethrin  (ISO)
amphetamine  (ISO)
androgen antagonist  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
aripiprazole  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP,ISO)
asiatic acid  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bexarotene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Brodifacoum  (EXP)
buta-1,3-diene  (ISO)
Butylparaben  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP,ISO)
cannabidiol  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
citalopram  (ISO)
clofibrate  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
coumarin  (EXP)
Cuprizon  (ISO)
curcumin  (EXP,ISO)
cycloheximide  (ISO)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
D-penicillamine  (ISO)
daidzein  (ISO)
daidzein 7-O-beta-D-glucoside  (ISO)
DDE  (ISO)
DDT  (ISO)
decabromodiphenyl ether  (EXP)
deoxynivalenol  (ISO)
desferrioxamine B  (EXP)
dexamethasone  (ISO)
Diallyltetrasulfane  (ISO)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
Difenacoum  (EXP)
disodium selenite  (EXP,ISO)
doxorubicin  (EXP)
endosulfan  (EXP,ISO)
enzacamene  (ISO)
ethanol  (EXP,ISO)
fenvalerate  (ISO)
Flocoumafen  (EXP)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP,ISO)
fumonisin B1  (EXP)
genistein  (EXP,ISO)
genistein 7-O-beta-D-glucoside  (ISO)
gentamycin  (ISO)
gibberellin A3  (ISO)
glycitein  (ISO)
glycitin  (ISO)
glyphosate  (EXP,ISO)
guggulsterone  (EXP)
hexane  (ISO)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
ibuprofen  (EXP)
isoprenaline  (ISO)
ketoconazole  (ISO)
L-methionine  (EXP,ISO)
lead diacetate  (ISO)
lead nitrate  (EXP)
lead(0)  (EXP,ISO)
malathion  (ISO)
mancozeb  (ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
microcystin-LR  (EXP)
mitomycin C  (ISO)
Monobutylphthalate  (ISO)
morphine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methylformamide  (ISO)
N-nitrosodiethylamine  (ISO)
ozone  (EXP,ISO)
p-tert-Amylphenol  (EXP)
paracetamol  (ISO)
paraquat  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
poly(I:C)  (EXP)
potassium dichromate  (ISO)
procyanidin B2  (EXP)
pterostilbene  (EXP)
pyrethrins  (ISO)
quartz  (EXP)
quinoline  (ISO)
resveratrol  (EXP)
S-adenosyl-L-methioninate  (EXP,ISO)
S-adenosyl-L-methionine  (EXP,ISO)
Salinomycin  (EXP)
SB 431542  (EXP)
sinefungin  (ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
T-2 toxin  (ISO)
tamoxifen  (ISO)
tangeretin  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
tyrphostin AG 1478  (EXP)
uranium atom  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)
vinyl carbamate  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)
withaferin A  (EXP)
wortmannin  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
catalytic complex  (IPI)
chromosome  (IEA)
chromosome, centromeric region  (IEA)
cytoplasm  (IBA,IDA,IEA)
euchromatin  (IDA)
heterochromatin  (IEA)
nuclear matrix  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA,ISO,NAS)
XY body  (IEA)

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

Human Phenotype
11 pairs of ribs  (IAGP)
Abnormal leukocyte count  (IAGP)
Abnormality of the nervous system  (IAGP)
Acute myeloid leukemia  (IAGP)
Adrenal pheochromocytoma  (IAGP)
Aggressive behavior  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Aortic root aneurysm  (IAGP)
Atrial septal defect  (IAGP)
Atypical behavior  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bipolar affective disorder  (IAGP)
Blepharophimosis  (IAGP)
Broad forehead  (IAGP)
Broad metacarpals  (IAGP)
Broad phalanx  (IAGP)
Cerebral hemorrhage  (IAGP)
Chest pain  (IAGP)
Chiari malformation  (IAGP)
Chiari type I malformation  (IAGP)
Coarse facial features  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Cranial nerve compression  (IAGP)
Cryptorchidism  (IAGP)
Decreased body weight  (IAGP)
Deep philtrum  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Dysphonia  (IAGP)
Elevated urinary dopamine level  (IAGP)
Elevated urinary epinephrine level  (IAGP)
Elevated urinary norepinephrine level  (IAGP)
Encephalomalacia  (IAGP)
Epicanthus  (IAGP)
Episodic abdominal pain  (IAGP)
Episodic hyperhidrosis  (IAGP)
Episodic paroxysmal anxiety  (IAGP)
Everted upper lip vermilion  (IAGP)
Exaggerated cupid's bow  (IAGP)
Extraadrenal pheochromocytoma  (IAGP)
Fatigue  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Fetal distress  (IAGP)
Flushing  (IAGP)
Glioblastoma multiforme  (IAGP)
Global developmental delay  (IAGP)
Glomerular sclerosis  (IAGP)
Hematuria  (IAGP)
Hemihypertrophy  (IAGP)
Horizontal eyebrow  (IAGP)
Hypercalcemia  (IAGP)
Hypertelorism  (IAGP)
Hypertension associated with pheochromocytoma  (IAGP)
Hypertensive retinopathy  (IAGP)
Hypotonia  (IAGP)
Infantile muscular hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint hypermobility  (IAGP)
Kyphoscoliosis  (IAGP)
Large for gestational age  (IAGP)
Leukocytosis  (IAGP)
Lung adenocarcinoma  (IAGP)
Macrocephaly  (IAGP)
Mandibular prognathia  (IAGP)
Melanoma  (IAGP)
Microcephaly  (IAGP)
Mitral regurgitation  (IAGP)
Multiple myeloma  (IAGP)
Myelodysplasia  (IAGP)
Myeloid leukemia  (IAGP)
Myeloproliferative disorder  (IAGP)
Narrow palpebral fissure  (IAGP)
Nausea  (IAGP)
Neonatal hypotonia  (IAGP)
Neuroendocrine neoplasm  (IAGP)
Obesity  (IAGP)
Optic disc pallor  (IAGP)
Optic nerve hypoplasia  (IAGP)
Overgrowth  (IAGP)
Pallor  (IAGP)
Palpitations  (IAGP)
Panic attack  (IAGP)
Paraganglioma  (IAGP)
Paraganglioma of head and neck  (IAGP)
Paroxysmal vertigo  (IAGP)
Patellar subluxation  (IAGP)
Patent ductus arteriosus  (IAGP)
Positive regitine blocking test  (IAGP)
Proportionate short stature  (IAGP)
Proportionate tall stature  (IAGP)
Proteinuria  (IAGP)
Pulsatile tinnitus  (IAGP)
Recurrent paroxysmal headache  (IAGP)
Round face  (IAGP)
Sagittal craniosynostosis  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe short stature  (IAGP)
Short columella  (IAGP)
Short metacarpal  (IAGP)
Short phalanx of finger  (IAGP)
Short toe  (IAGP)
Sinus tachycardia  (IAGP)
Sparse hair  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Supraventricular tachycardia with an accessory connection mediated pathway  (IAGP)
Talipes valgus  (IAGP)
Tall stature  (IAGP)
Thick eyebrow  (IAGP)
Thin vermilion border  (IAGP)
Tremor  (IAGP)
Tricuspid regurgitation  (IAGP)
Typified by somatic mosaicism  (IAGP)
Umbilical hernia  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Vesicoureteral reflux  (IAGP)
Vocal cord paralysis  (IAGP)
Weight loss  (IAGP)
Widely spaced toes  (IAGP)
Widely-spaced maxillary central incisors  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. A review of methionine dependency and the role of methionine restriction in cancer growth control and life-span extension. Cavuoto P and Fenech MF, Cancer Treat Rev. 2012 Oct;38(6):726-36. doi: 10.1016/j.ctrv.2012.01.004. Epub 2012 Feb 17.
2. Vinclozolin exposure in utero induces postpubertal prostatitis and reduces sperm production via a reversible hormone-regulated mechanism. Cowin PA, etal., Endocrinology. 2010 Feb;151(2):783-92. doi: 10.1210/en.2009-0982. Epub 2010 Jan 7.
3. Cancer epigenetics: from mechanism to therapy. Dawson MA and Kouzarides T, Cell. 2012 Jul 6;150(1):12-27. doi: 10.1016/j.cell.2012.06.013.
4. Playing TETris with DNA modifications. Delatte B, etal., EMBO J. 2014 Jun 2;33(11):1198-211. doi: 10.15252/embj.201488290. Epub 2014 May 13.
5. DNMT3A R882 mutations in patients with cytogenetically normal acute myeloid leukemia and myelodysplastic syndrome. El Ghannam D, etal., Blood Cells Mol Dis. 2014 Jun-Aug;53(1-2):61-6. doi: 10.1016/j.bcmd.2014.01.004. Epub 2014 Feb 8.
6. A functional polymorphism in the DNA methyltransferase-3A promoter modifies the susceptibility in gastric cancer but not in esophageal carcinoma. Fan H, etal., BMC Med. 2010 Feb 3;8:12. doi: 10.1186/1741-7015-8-12.
7. Alteration in methylation pattern of GATA-4 promoter region in vitamin A-deficient offspring's heart. Feng Y, etal., J Nutr Biochem. 2013 Jul;24(7):1373-80. doi: 10.1016/j.jnutbio.2012.11.005. Epub 2013 Jan 17.
8. [Expression and significance of DNA methyltransferase in sera of patients with lung cancer]. Feng YJ, etal., Zhonghua Yi Xue Za Zhi. 2013 Dec 24;93(48):3822-5.
9. The molecular profile of adult T-cell acute lymphoblastic leukemia: mutations in RUNX1 and DNMT3A are associated with poor prognosis in T-ALL. Grossmann V, etal., Genes Chromosomes Cancer. 2013 Apr;52(4):410-22. doi: 10.1002/gcc.22039. Epub 2013 Jan 23.
10. Change in microRNAs associated with neuronal adaptive responses in the nucleus accumbens under neuropathic pain. Imai S, etal., J Neurosci. 2011 Oct 26;31(43):15294-9. doi: 10.1523/JNEUROSCI.0921-11.2011.
11. Phenotypic switching induced by damaged matrix is associated with DNA methyltransferase 3A (DNMT3A) activity and nuclear localization in smooth muscle cells (SMC). Jiang JX, etal., PLoS One. 2013 Aug 7;8(8):e69089. doi: 10.1371/journal.pone.0069089. eCollection 2013.
12. Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens. LaPlant Q, etal., Nat Neurosci. 2010 Sep;13(9):1137-43. doi: 10.1038/nn.2619. Epub 2010 Aug 22.
13. DNMT3A mutations and prognostic significance in childhood acute lymphoblastic leukemia. Li W, etal., Leuk Lymphoma. 2015 Apr;56(4):1066-71. doi: 10.3109/10428194.2014.947607. Epub 2014 Nov 10.
14. Recurrent DNMT3A R882 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome. Lin J, etal., PLoS One. 2011;6(10):e26906. doi: 10.1371/journal.pone.0026906. Epub 2011 Oct 31.
15. Aberrant methylation accounts for cell adhesion-related gene silencing during 3-methylcholanthrene and diethylnitrosamine induced multistep rat lung carcinogenesis associated with overexpression of DNA methyltransferases 1 and 3a. Liu WB, etal., Toxicol Appl Pharmacol. 2011 Feb 15;251(1):70-8. doi: 10.1016/j.taap.2010.12.002. Epub 2010 Dec 14.
16. Aberrant immunoreactivity of deoxyribonucleic acid methyltransferases in adenomyosis. Liu X and Guo SW, Gynecol Obstet Invest. 2012;74(2):100-8. Epub 2012 May 4.
17. DNMT3A mutation analysis in adult patients with acute lymphoblastic leukemia. Liu YN, etal., J Huazhong Univ Sci Technolog Med Sci. 2015 Jun;35(3):337-42. doi: 10.1007/s11596-015-1434-1. Epub 2015 Jun 14.
18. Role of de novo DNA methyltransferases and methyl CpG-binding proteins in gene silencing in a rat hepatoma. Majumder S, etal., J Biol Chem. 2002 May 3;277(18):16048-58. Epub 2002 Feb 13.
19. Age-related prognostic impact of different types of DNMT3A mutations in adults with primary cytogenetically normal acute myeloid leukemia. Marcucci G, etal., J Clin Oncol. 2012 Mar 1;30(7):742-50. doi: 10.1200/JCO.2011.39.2092. Epub 2012 Jan 30.
20. Dnmt3a loss predisposes murine hematopoietic stem cells to malignant transformation. Mayle A, etal., Blood. 2015 Jan 22;125(4):629-38.
21. Expression of DNA methyltransferases DNMT1, 3A, and 3B in normal hematopoiesis and in acute and chronic myelogenous leukemia. Mizuno S, etal., Blood. 2001 Mar 1;97(5):1172-9.
22. DNA methylation pathway alterations in an autochthonous murine model of prostate cancer. Morey SR, etal., Cancer Res. 2006 Dec 15;66(24):11659-67.
23. MicroRNA miR-29c down-regulation leading to de-repression of its target DNA methyltransferase 3a promotes ischemic brain damage. Pandi G, etal., PLoS One. 2013;8(3):e58039. doi: 10.1371/journal.pone.0058039. Epub 2013 Mar 13.
24. DNA methyltransferase expression and DNA hypermethylation in human hepatocellular carcinoma. Park HJ, etal., Cancer Lett. 2006 Feb 28;233(2):271-8.
25. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
26. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
27. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
28. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
29. DNMT3A Mutational Status Affects the Results of Dose-Escalated Induction Therapy in Acute Myelogenous Leukemia. Sehgal AR, etal., Clin Cancer Res. 2015 Apr 1;21(7):1614-20. doi: 10.1158/1078-0432.CCR-14-0327. Epub 2015 Jan 21.
30. Decreased DNA methyltransferase 3A and 3B mRNA expression in peripheral blood mononuclear cells and increased plasma SAH concentration in adult patients with idiopathic thrombocytopenic purpura. Tao J, etal., J Clin Immunol. 2008 Sep;28(5):432-9. doi: 10.1007/s10875-008-9223-2. Epub 2008 Aug 6.
31. Recurrent DNMT3A mutations in patients with myelodysplastic syndromes. Walter MJ, etal., Leukemia. 2011 Jul;25(7):1153-8. doi: 10.1038/leu.2011.44. Epub 2011 Mar 18.
32. Mitochondrial DNMT3A and DNA methylation in skeletal muscle and CNS of transgenic mouse models of ALS. Wong M, etal., Front Cell Neurosci. 2013 Dec 25;7:279. doi: 10.3389/fncel.2013.00279. eCollection 2013.
33. Chronic cerebrovascular hypoperfusion affects global DNA methylation and histone acetylation in rat brain. Wu X, etal., Neurosci Bull. 2013 Dec;29(6):685-92. doi: 10.1007/s12264-013-1345-8. Epub 2013 May 28.
34. Aberrant expression of deoxyribonucleic acid methyltransferases DNMT1, DNMT3A, and DNMT3B in women with endometriosis. Wu Y, etal., Fertil Steril. 2007 Jan;87(1):24-32. Epub 2006 Nov 1.
35. DNMT3A intragenic hypomethylation is associated with adverse prognosis in acute myeloid leukemia. Zhang YY, etal., Leuk Res. 2015 Oct;39(10):1041-7. doi: 10.1016/j.leukres.2015.06.015. Epub 2015 Jul 6.
Additional References at PubMed
PMID:7566098   PMID:8772199   PMID:8889548   PMID:9662389   PMID:10325416   PMID:10433969   PMID:11350943   PMID:11834837   PMID:11934864   PMID:12138111   PMID:12145218   PMID:12359337  
PMID:12383256   PMID:12406579   PMID:12477932   PMID:12481029   PMID:12496760   PMID:12711675   PMID:12738984   PMID:12777184   PMID:12867029   PMID:14752048   PMID:15105426   PMID:15616584  
PMID:15688037   PMID:15721400   PMID:15799776   PMID:15854647   PMID:15861382   PMID:16173030   PMID:16331260   PMID:16357870   PMID:16682412   PMID:16769694   PMID:16983096   PMID:16998846  
PMID:17081983   PMID:17175537   PMID:17439403   PMID:17470536   PMID:17538945   PMID:17548962   PMID:17687327   PMID:17688412   PMID:17713477   PMID:17890317   PMID:17972916   PMID:17998942  
PMID:18029348   PMID:18253830   PMID:18381459   PMID:18391951   PMID:18829110   PMID:19064572   PMID:19070387   PMID:19124506   PMID:19139273   PMID:19161160   PMID:19211935   PMID:19234465  
PMID:19246518   PMID:19394279   PMID:19451595   PMID:19468253   PMID:19620278   PMID:19625655   PMID:19638978   PMID:19680556   PMID:19763880   PMID:19786833   PMID:19798101   PMID:19834512  
PMID:19921333   PMID:20147412   PMID:20223770   PMID:20227382   PMID:20228804   PMID:20381114   PMID:20381446   PMID:20426865   PMID:20467490   PMID:20473858   PMID:20560050   PMID:20570913  
PMID:20593030   PMID:20620135   PMID:20630873   PMID:20838592   PMID:20923784   PMID:20951977   PMID:20963938   PMID:20966256   PMID:20970125   PMID:20980350   PMID:21044950   PMID:21067377  
PMID:21102463   PMID:21304883   PMID:21399634   PMID:21406692   PMID:21504050   PMID:21518476   PMID:21519343   PMID:21537334   PMID:21670448   PMID:21674242   PMID:21685466   PMID:21745816  
PMID:21826395   PMID:21828135   PMID:21859430   PMID:21873635   PMID:21880635   PMID:21880636   PMID:21887463   PMID:21967546   PMID:21976679   PMID:21979949   PMID:21980299   PMID:21981547  
PMID:21993668   PMID:22021454   PMID:22048249   PMID:22055183   PMID:22064703   PMID:22077061   PMID:22081665   PMID:22086334   PMID:22124213   PMID:22138693   PMID:22162396   PMID:22216861  
PMID:22219193   PMID:22251315   PMID:22289988   PMID:22301400   PMID:22321265   PMID:22349384   PMID:22490330   PMID:22520950   PMID:22645246   PMID:22722750   PMID:22722925   PMID:22730298  
PMID:22733537   PMID:22744846   PMID:22749068   PMID:22768205   PMID:22860916   PMID:22875620   PMID:22898819   PMID:22905207   PMID:22942708   PMID:22957049   PMID:23018098   PMID:23031157  
PMID:23039890   PMID:23042785   PMID:23053986   PMID:23100393   PMID:23135354   PMID:23187294   PMID:23280764   PMID:23365461   PMID:23393137   PMID:23408834   PMID:23519389   PMID:23603912  
PMID:23632886   PMID:23684163   PMID:23704090   PMID:23741974   PMID:23959088   PMID:23962568   PMID:24074865   PMID:24115220   PMID:24127215   PMID:24218337   PMID:24280869   PMID:24283755  
PMID:24289567   PMID:24292684   PMID:24324066   PMID:24374650   PMID:24459426   PMID:24464625   PMID:24606448   PMID:24614070   PMID:24626955   PMID:24656771   PMID:24667323   PMID:24699305  
PMID:24716599   PMID:24723457   PMID:24817692   PMID:24866170   PMID:24887488   PMID:24895580   PMID:24914952   PMID:24936645   PMID:24952347   PMID:25009393   PMID:25064007   PMID:25066127  
PMID:25082530   PMID:25126948   PMID:25172541   PMID:25210796   PMID:25281355   PMID:25281560   PMID:25282336   PMID:25349213   PMID:25371149   PMID:25383530   PMID:25416956   PMID:25429064  
PMID:25452147   PMID:25550796   PMID:25592687   PMID:25681155   PMID:25687841   PMID:25693834   PMID:25705251   PMID:25721756   PMID:25727291   PMID:25743254   PMID:25748685   PMID:25822089  
PMID:25858894   PMID:25874772   PMID:25899090   PMID:25964253   PMID:25966133   PMID:26059451   PMID:26098813   PMID:26111027   PMID:26191165   PMID:26203494   PMID:26223865   PMID:26234722  
PMID:26250577   PMID:26290145   PMID:26350239   PMID:26371346   PMID:26375248   PMID:26416384   PMID:26482067   PMID:26496610   PMID:26573388   PMID:26573490   PMID:26598069   PMID:26703962  
PMID:26711182   PMID:26760575   PMID:26823816   PMID:26825711   PMID:26850336   PMID:26850594   PMID:26866722   PMID:26912663   PMID:26927545   PMID:26966018   PMID:26969735   PMID:26975503  
PMID:26986232   PMID:26993463   PMID:27010239   PMID:27016502   PMID:27092400   PMID:27149454   PMID:27165229   PMID:27208809   PMID:27237591   PMID:27240832   PMID:27292127   PMID:27300438  
PMID:27335278   PMID:27344947   PMID:27359055   PMID:27364355   PMID:27396912   PMID:27405758   PMID:27435003   PMID:27468168   PMID:27476855   PMID:27476967   PMID:27498672   PMID:27515006  
PMID:27528035   PMID:27543768   PMID:27626217   PMID:27636548   PMID:27658717   PMID:27666771   PMID:27701732   PMID:27720955   PMID:27724883   PMID:27733013   PMID:27740732   PMID:27748882  
PMID:27761930   PMID:27771989   PMID:27789275   PMID:27817038   PMID:27826836   PMID:27832631   PMID:27841873   PMID:27859003   PMID:27871469   PMID:27881874   PMID:27986572   PMID:27991732  
PMID:27999265   PMID:28003281   PMID:28036257   PMID:28049695   PMID:28074931   PMID:28100593   PMID:28215704   PMID:28242625   PMID:28252641   PMID:28286768   PMID:28303350   PMID:28343076  
PMID:28345813   PMID:28349196   PMID:28386848   PMID:28393842   PMID:28408400   PMID:28418922   PMID:28423585   PMID:28459195   PMID:28514442   PMID:28560437   PMID:28616699   PMID:28643785  
PMID:28655780   PMID:28667884   PMID:28718369   PMID:28767575   PMID:28781076   PMID:28829505   PMID:28872462   PMID:28901428   PMID:28905428   PMID:28935992   PMID:28941052   PMID:28945286  
PMID:28972040   PMID:28978469   PMID:28992762   PMID:29024628   PMID:29079128   PMID:29091029   PMID:29117863   PMID:29165010   PMID:29227812   PMID:29278853   PMID:29321554   PMID:29335621  
PMID:29411884   PMID:29414941   PMID:29417611   PMID:29518238   PMID:29618788   PMID:29619119   PMID:29674125   PMID:29691401   PMID:29717263   PMID:29719581   PMID:29724530   PMID:29735542  
PMID:29740169   PMID:29764839   PMID:29786546   PMID:29802960   PMID:29850805   PMID:29877252   PMID:29907613   PMID:29956566   PMID:29993160   PMID:30002361   PMID:30102379   PMID:30111769  
PMID:30122013   PMID:30185810   PMID:30245403   PMID:30252567   PMID:30324719   PMID:30359738   PMID:30478443   PMID:30530780   PMID:30566180   PMID:30614867   PMID:30655366   PMID:30705090  
PMID:30786140   PMID:30852420   PMID:30926392   PMID:31076518   PMID:31149783   PMID:31151028   PMID:31160375   PMID:31164355   PMID:31171909   PMID:31190353   PMID:31209279   PMID:31229457  
PMID:31280122   PMID:31291961   PMID:31426844   PMID:31436356   PMID:31482762   PMID:31515224   PMID:31515488   PMID:31522815   PMID:31527248   PMID:31537639   PMID:31582562   PMID:31614132  
PMID:31620784   PMID:31624251   PMID:31640986   PMID:31661141   PMID:31685998   PMID:31726062   PMID:31739141   PMID:31755366   PMID:31758527   PMID:31815535   PMID:31861499   PMID:31862523  
PMID:31956100   PMID:31961069   PMID:31996479   PMID:32004382   PMID:32018205   PMID:32020216   PMID:32051553   PMID:32112088   PMID:32123902   PMID:32127624   PMID:32179410   PMID:32296183  
PMID:32312426   PMID:32338148   PMID:32363688   PMID:32393056   PMID:32468273   PMID:32514123   PMID:32521454   PMID:32543182   PMID:32620778   PMID:32728112   PMID:32794622   PMID:32814053  
PMID:32856987   PMID:32876528   PMID:32912818   PMID:32954426   PMID:32957806   PMID:32968275   PMID:32994141   PMID:33004909   PMID:33066747   PMID:33079978   PMID:33082307   PMID:33090550  
PMID:33123904   PMID:33155517   PMID:33226740   PMID:33241418   PMID:33247696   PMID:33299888   PMID:33536335   PMID:33589600   PMID:33661592   PMID:33798630   PMID:33803981   PMID:33803994  
PMID:33832602   PMID:33838631   PMID:33931579   PMID:33945391   PMID:33961781   PMID:33970190   PMID:33986537   PMID:34039392   PMID:34051063   PMID:34067359   PMID:34079125   PMID:34093541  
PMID:34099923   PMID:34100902   PMID:34137843   PMID:34148029   PMID:34192561   PMID:34198843   PMID:34204856   PMID:34215536   PMID:34215619   PMID:34267355   PMID:34289056   PMID:34315901  
PMID:34325283   PMID:34376373   PMID:34416176   PMID:34429321   PMID:34516636   PMID:34576030   PMID:34651440   PMID:34654019   PMID:34686499   PMID:34687205   PMID:34698806   PMID:34716195  
PMID:34723452   PMID:34773997   PMID:34788385   PMID:34831178   PMID:35066499   PMID:35077478   PMID:35131259   PMID:35173353   PMID:35182466   PMID:35271311   PMID:35339897   PMID:35396004  
PMID:35414793   PMID:35485701   PMID:35558161   PMID:35770296   PMID:35771960   PMID:35901322   PMID:35931086   PMID:35943291   PMID:35944360   PMID:35961487   PMID:35998875   PMID:36089195  
PMID:36138229   PMID:36175738   PMID:36271073   PMID:36303144   PMID:36376550   PMID:36410635   PMID:36453648   PMID:36482819   PMID:36528185   PMID:36543142   PMID:36580013   PMID:36610002  
PMID:36774339   PMID:36807865   PMID:36907530   PMID:36912186   PMID:36934225   PMID:36976647   PMID:37024683   PMID:37085288   PMID:37140166   PMID:37464424   PMID:37519024   PMID:37689310  
PMID:37736838   PMID:37807334   PMID:37853686   PMID:38077422   PMID:38183507   PMID:38231881   PMID:38242884   PMID:38438051  


Genomics

Comparative Map Data
DNMT3A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38225,227,874 - 25,342,590 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl225,227,855 - 25,342,590 (-)EnsemblGRCh38hg38GRCh38
GRCh37225,450,743 - 25,565,459 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36225,309,349 - 25,418,963 (-)NCBINCBI36Build 36hg18NCBI36
Celera225,296,144 - 25,405,816 (-)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef225,193,733 - 25,302,862 (-)NCBIHuRef
CHM1_1225,385,740 - 25,495,369 (-)NCBICHM1_1
T2T-CHM13v2.0225,263,222 - 25,377,928 (-)NCBIT2T-CHM13v2.0
Dnmt3a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39123,851,559 - 3,964,442 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl123,856,007 - 3,964,443 (+)EnsemblGRCm39 Ensembl
GRCm38123,801,559 - 3,914,443 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl123,806,007 - 3,914,443 (+)EnsemblGRCm38mm10GRCm38
MGSCv37123,806,980 - 3,914,443 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36123,835,027 - 3,914,455 (+)NCBIMGSCv36mm8
Celera123,763,156 - 3,842,112 (+)NCBICelera
Cytogenetic Map12A1.1NCBI
cM Map121.99NCBI
Dnmt3a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8632,507,316 - 32,621,678 (+)NCBIGRCr8
mRatBN7.2626,791,517 - 26,902,161 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl626,822,609 - 26,896,687 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx627,114,932 - 27,188,991 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0627,430,833 - 27,504,894 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0626,909,402 - 26,983,738 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0628,205,375 - 28,346,052 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl628,235,695 - 28,340,577 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0638,044,960 - 38,082,583 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0638,132,683 - 38,149,613 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4626,802,612 - 26,878,878 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1626,805,564 - 26,881,831 (+)NCBI
Celera626,297,300 - 26,371,904 (+)NCBICelera
Cytogenetic Map6q14NCBI
Dnmt3a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554697,269,952 - 7,367,059 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554697,264,431 - 7,367,059 (-)NCBIChiLan1.0ChiLan1.0
DNMT3A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v212101,173,664 - 101,289,206 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A101,177,630 - 101,288,083 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A25,229,593 - 25,344,733 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A25,331,095 - 25,441,785 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A25,331,095 - 25,412,605 (-)Ensemblpanpan1.1panPan2
DNMT3A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11719,489,524 - 19,563,074 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1719,492,193 - 19,563,902 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1719,382,990 - 19,486,679 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01719,761,597 - 19,865,311 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1719,767,351 - 19,865,307 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11719,495,608 - 19,599,241 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01719,505,342 - 19,609,205 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01719,551,811 - 19,655,519 (-)NCBIUU_Cfam_GSD_1.0
Dnmt3a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629263,826,309 - 63,930,744 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364936,935,386 - 7,007,610 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364936,963,406 - 7,013,256 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNMT3A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3113,528,926 - 113,603,087 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13113,501,972 - 113,609,148 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23120,579,692 - 120,663,698 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DNMT3A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11482,313,414 - 82,427,170 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1482,402,826 - 82,420,819 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604529,732,050 - 29,846,532 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dnmt3a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247387,485,842 - 7,581,056 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247387,481,084 - 7,581,332 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DNMT3A
591 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022552.5(DNMT3A):c.2736_2737del (p.Ter913ArgextTer?) microsatellite not provided [RCV001766295] Chr2:25234281..25234282 [GRCh38]
Chr2:25457150..25457151 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2478+1G>T single nucleotide variant not provided [RCV000519319] Chr2:25236935 [GRCh38]
Chr2:25459804 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.1140G>A (p.Ala380=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000547935]|not provided [RCV001536904] Chr2:25246759 [GRCh38]
Chr2:25469628 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.2151C>T (p.Asn717=) single nucleotide variant DNMT3A-related condition [RCV003935531]|Tatton-Brown-Rahman overgrowth syndrome [RCV000551582]|not provided [RCV001672862]|not specified [RCV001821633] Chr2:25240662 [GRCh38]
Chr2:25463531 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_022552.5(DNMT3A):c.735del (p.Ala246fs) deletion Tatton-Brown-Rahman overgrowth syndrome [RCV000549667] Chr2:25248157 [GRCh38]
Chr2:25471026 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1063C>T (p.His355Tyr) single nucleotide variant not provided [RCV000522668] Chr2:25247110 [GRCh38]
Chr2:25469979 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_175629.2(DNMT3A):c.72+4863A>C single nucleotide variant Lung cancer [RCV000091983] Chr2:25309050 [GRCh38]
Chr2:25531919 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_175629.2(DNMT3A):c.-178+8586G>A single nucleotide variant Lung cancer [RCV000091984] Chr2:25333844 [GRCh38]
Chr2:25556713 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala) single nucleotide variant DNMT3A-related condition [RCV003935147]|Tatton-Brown-Rahman overgrowth syndrome [RCV000986598]|not provided [RCV000513872]|not specified [RCV000120651] Chr2:25300227 [GRCh38]
Chr2:25523096 [GRCh37]
Chr2:2p23.3		 benign|likely benign|not provided
NM_022552.5(DNMT3A):c.131C>T (p.Thr44Met) single nucleotide variant DNMT3A-related condition [RCV003407510]|Tatton-Brown-Rahman overgrowth syndrome [RCV000700793]|not specified [RCV000120652] Chr2:25300185 [GRCh38]
Chr2:25523054 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance|not provided
NM_022552.5(DNMT3A):c.802G>A (p.Asp268Asn) single nucleotide variant not specified [RCV000120653] Chr2:25248090 [GRCh38]
Chr2:25470959 [GRCh37]
Chr2:2p23.3		 not provided
NM_022552.5(DNMT3A):c.645G>C (p.Glu215Asp) single nucleotide variant not specified [RCV000120654] Chr2:25248247 [GRCh38]
Chr2:25471116 [GRCh37]
Chr2:2p23.3		 not provided
NM_022552.5(DNMT3A):c.1502A>G (p.Asn501Ser) single nucleotide variant DNMT3A-related condition [RCV003925179]|Tatton-Brown-Rahman overgrowth syndrome [RCV000558524]|not provided [RCV001566672]|not specified [RCV000120655] Chr2:25245305 [GRCh38]
Chr2:25468174 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance|not provided
NM_022552.5(DNMT3A):c.1555-1G>T single nucleotide variant not provided [RCV002293009] Chr2:25244653 [GRCh38]
Chr2:25467522 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.892G>T (p.Gly298Trp) single nucleotide variant Inborn genetic diseases [RCV000190731] Chr2:25247713 [GRCh38]
Chr2:25470582 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.895A>C (p.Lys299Gln) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000256441] Chr2:25247710 [GRCh38]
Chr2:25470579 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.889_891del (p.Trp297del) deletion Tatton-Brown-Rahman overgrowth syndrome [RCV000128558] Chr2:25247714..25247716 [GRCh38]
Chr2:25470583..25470585 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1943T>C (p.Leu648Pro) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000128559] Chr2:25241701 [GRCh38]
Chr2:25464570 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.929T>A (p.Ile310Asn) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000128560] Chr2:25247676 [GRCh38]
Chr2:25470545 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1643T>A (p.Met548Lys) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000128561] Chr2:25244564 [GRCh38]
Chr2:25467433 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.2705T>C (p.Phe902Ser) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000128562] Chr2:25234313 [GRCh38]
Chr2:25457182 [GRCh37]
Chr2:2p23.3		 pathogenic
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2		 pathogenic
GRCh38/hg38 2p23.3(chr2:25215598-25306343)x3 copy number gain See cases [RCV000135276] Chr2:25215598..25306343 [GRCh38]
Chr2:25438467..25529212 [GRCh37]
Chr2:25291971..25382716 [NCBI36]
Chr2:2p23.3		 likely benign
GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1 copy number loss See cases [RCV000137065] Chr2:25064306..27154398 [GRCh38]
Chr2:25287175..27377266 [GRCh37]
Chr2:25140679..27230770 [NCBI36]
Chr2:2p23.3		 uncertain significance
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1 copy number loss See cases [RCV000142071] Chr2:22579652..28525186 [GRCh38]
Chr2:22802524..28748053 [GRCh37]
Chr2:22656029..28601557 [NCBI36]
Chr2:2p24.1-23.2		 pathogenic
GRCh38/hg38 2p23.3(chr2:25113266-25618499)x3 copy number gain See cases [RCV000142991] Chr2:25113266..25618499 [GRCh38]
Chr2:25336135..25841368 [GRCh37]
Chr2:25189639..25694872 [NCBI36]
Chr2:2p23.3		 uncertain significance
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
NM_022552.5(DNMT3A):c.1204C>T (p.Gln402Ter) single nucleotide variant Early T cell progenitor acute lymphoblastic leukemia [RCV000190418] Chr2:25246695 [GRCh38]
Chr2:25469564 [GRCh37]
Chr2:2p23.3		 pathogenic
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_022552.5(DNMT3A):c.2312G>T (p.Arg771Leu) single nucleotide variant Inborn genetic diseases [RCV000622849] Chr2:25240312 [GRCh38]
Chr2:25463181 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2141C>G (p.Ser714Cys) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001251185]|not provided [RCV000658860] Chr2:25240672 [GRCh38]
Chr2:25463541 [GRCh37]
Chr2:2p23.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022552.5(DNMT3A):c.1634A>G (p.Glu545Gly) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000677682] Chr2:25244573 [GRCh38]
Chr2:25467442 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.1608C>G (p.Tyr536Ter) single nucleotide variant not provided [RCV000304967] Chr2:25244599 [GRCh38]
Chr2:25467468 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) single nucleotide variant Acute myeloid leukemia [RCV003883148]|Autism spectrum disorder [RCV003313065]|Tatton-Brown-Rahman overgrowth syndrome [RCV000367312]|not provided [RCV000433567] Chr2:25243931 [GRCh38]
Chr2:25466800 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_022552.5(DNMT3A):c.1374del (p.Lys459fs) deletion not provided [RCV000295479] Chr2:25246215 [GRCh38]
Chr2:25469084 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.2729C>T (p.Ala910Val) single nucleotide variant not provided [RCV002284895] Chr2:25234289 [GRCh38]
Chr2:25457158 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=) single nucleotide variant DNMT3A-related condition [RCV003927918]|Tatton-Brown-Rahman overgrowth syndrome [RCV001088447]|not provided [RCV000596005] Chr2:25234342 [GRCh38]
Chr2:25457211 [GRCh37]
Chr2:2p23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022552.5(DNMT3A):c.2536C>T (p.Gln846Ter) single nucleotide variant Inborn genetic diseases [RCV000624328] Chr2:25235768 [GRCh38]
Chr2:25458637 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1867dup (p.Tyr623fs) duplication not provided [RCV000599228] Chr2:25243966..25243967 [GRCh38]
Chr2:25466835..25466836 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.2175G>A (p.Glu725=) single nucleotide variant not provided [RCV000593348] Chr2:25240449 [GRCh38]
Chr2:25463318 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1015-3_1015-1delinsAA indel not provided [RCV000599335] Chr2:25247159..25247161 [GRCh38]
Chr2:25470028..25470030 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.2409-172C>T single nucleotide variant not provided [RCV001572022] Chr2:25237177 [GRCh38]
Chr2:25460046 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.447G>A (p.Ala149=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000534914] Chr2:25282442 [GRCh38]
Chr2:25505311 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.328C>G (p.Gln110Glu) single nucleotide variant not provided [RCV000731871] Chr2:25282561 [GRCh38]
Chr2:25505430 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2711C>T (p.Pro904Leu) single nucleotide variant Autism spectrum disorder [RCV003233631]|not provided [RCV000413992] Chr2:25234307 [GRCh38]
Chr2:25457176 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic|not provided
NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln) single nucleotide variant Inborn genetic diseases [RCV000624769]|Tatton-Brown-Rahman overgrowth syndrome [RCV000505187] Chr2:25240312 [GRCh38]
Chr2:25463181 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic
NM_022552.5(DNMT3A):c.2644C>G (p.Arg882Gly) single nucleotide variant Acute myeloid leukemia [RCV000427931] Chr2:25234374 [GRCh38]
Chr2:25457243 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.2644C>A (p.Arg882Ser) single nucleotide variant Acute myeloid leukemia [RCV000438614]|Tatton-Brown-Rahman overgrowth syndrome [RCV003766178]|not provided [RCV001782899] Chr2:25234374 [GRCh38]
Chr2:25457243 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic|uncertain significance
NM_022552.5(DNMT3A):c.2645G>T (p.Arg882Leu) single nucleotide variant Acute myeloid leukemia [RCV000445240] Chr2:25234373 [GRCh38]
Chr2:25457242 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.2213T>G (p.Leu738Arg) single nucleotide variant not provided [RCV000422670] Chr2:25240411 [GRCh38]
Chr2:25463280 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) single nucleotide variant Acute myeloid leukemia [RCV000429128]|Inborn genetic diseases [RCV001267371]|Lung adenocarcinoma [RCV000439787]|Myelodysplastic syndrome [RCV000422474]|Neurodevelopmental disorder [RCV001374980]|Tatton-Brown-Rahman overgrowth syndrome [RCV000590987]|not provided [RCV001552894] Chr2:25234374 [GRCh38]
Chr2:25457243 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic
NM_022552.5(DNMT3A):c.1743G>T (p.Trp581Cys) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000515481]|not provided [RCV000436598] Chr2:25244263 [GRCh38]
Chr2:25467132 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) single nucleotide variant Abnormality of the nervous system [RCV001814155]|Acute myeloid leukemia [RCV000430182]|Clonal Cytopenia of Undetermined Significance [RCV003153242]|DNMT3A-Related Disorder [RCV002464194]|Inborn genetic diseases [RCV000623601]|Lung adenocarcinoma [RCV000418424]|Myelodysplastic syndrome [RCV000437399]|Tatton-Brown-Rahman overgrowth syndrome [RCV000524775]|not provided [RCV000485343]|not specified [RCV002248654] Chr2:25234373 [GRCh38]
Chr2:25457242 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro) single nucleotide variant Acute myeloid leukemia [RCV000436723]|Lung adenocarcinoma [RCV000419470]|Myelodysplastic syndrome [RCV000427788] Chr2:25234373 [GRCh38]
Chr2:25457242 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic
NM_022552.5(DNMT3A):c.1684T>C (p.Cys562Arg) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000536842]|not provided [RCV000439792] Chr2:25244322 [GRCh38]
Chr2:25467191 [GRCh37]
Chr2:2p23.3		 likely pathogenic|uncertain significance
NM_022552.5(DNMT3A):c.1015-2A>G single nucleotide variant not provided [RCV000481026] Chr2:25247160 [GRCh38]
Chr2:25470029 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.340dup (p.Ala114fs) duplication not provided [RCV000481109] Chr2:25282548..25282549 [GRCh38]
Chr2:25505417..25505418 [GRCh37]
Chr2:2p23.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_022552.5(DNMT3A):c.1748G>A (p.Cys583Tyr) single nucleotide variant not provided [RCV000483070] Chr2:25244258 [GRCh38]
Chr2:25467127 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic
NM_022552.5(DNMT3A):c.700_709del (p.Gly234fs) deletion not provided [RCV000485726] Chr2:25248183..25248192 [GRCh38]
Chr2:25471052..25471061 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter) single nucleotide variant Acute myeloid leukemia [RCV003338604]|Tatton-Brown-Rahman overgrowth syndrome [RCV001237885]|not provided [RCV000486209] Chr2:25240313 [GRCh38]
Chr2:25463182 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1628G>A (p.Gly543Asp) single nucleotide variant not provided [RCV000486870] Chr2:25244579 [GRCh38]
Chr2:25467448 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.130_131dup (p.Ala45fs) duplication not provided [RCV000486884] Chr2:25300184..25300185 [GRCh38]
Chr2:25523053..25523054 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.759C>T (p.Pro253=) single nucleotide variant DNMT3A-related condition [RCV003915372]|Tatton-Brown-Rahman overgrowth syndrome [RCV000652290]|not provided [RCV001584213]|not specified [RCV000501387] Chr2:25248133 [GRCh38]
Chr2:25471002 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_022552.5(DNMT3A):c.1155G>A (p.Pro385=) single nucleotide variant DNMT3A-related condition [RCV003960160]|Tatton-Brown-Rahman overgrowth syndrome [RCV000945500]|not provided [RCV001534819]|not specified [RCV000503622] Chr2:25246744 [GRCh38]
Chr2:25469613 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_022552.5(DNMT3A):c.1491T>C (p.Cys497=) single nucleotide variant DNMT3A-related condition [RCV003915371]|Tatton-Brown-Rahman overgrowth syndrome [RCV002527240]|not specified [RCV000501518] Chr2:25245316 [GRCh38]
Chr2:25468185 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_022552.5(DNMT3A):c.72+9C>T single nucleotide variant DNMT3A-related condition [RCV003935283]|Tatton-Brown-Rahman overgrowth syndrome [RCV000964665]|not specified [RCV000503737] Chr2:25313904 [GRCh38]
Chr2:25536773 [GRCh37]
Chr2:2p23.3		 likely benign
GRCh37/hg19 2p23.3(chr2:24235780-25700427)x1 copy number loss not provided [RCV000509286] Chr2:24235780..25700427 [GRCh37]
Chr2:2p23.3		 not provided
NM_022552.5(DNMT3A):c.2598-3C>T single nucleotide variant DNMT3A-related condition [RCV003900041]|Tatton-Brown-Rahman overgrowth syndrome [RCV002527239]|not specified [RCV000499457] Chr2:25234423 [GRCh38]
Chr2:25457292 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_022552.5(DNMT3A):c.1015-4C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746529]|not specified [RCV000500562] Chr2:25247162 [GRCh38]
Chr2:25470031 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_022552.5(DNMT3A):c.901C>T (p.Arg301Trp) single nucleotide variant Inborn genetic diseases [RCV000624203]|not provided [RCV000498296] Chr2:25247704 [GRCh38]
Chr2:25470573 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic|uncertain significance
NM_022552.5(DNMT3A):c.1135C>T (p.Arg379Cys) single nucleotide variant DNMT3A-related condition [RCV003403163]|not provided [RCV002275043]|not specified [RCV000500674] Chr2:25246764 [GRCh38]
Chr2:25469633 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2652G>A (p.Ala884=) single nucleotide variant DNMT3A-related condition [RCV003962378]|Tatton-Brown-Rahman overgrowth syndrome [RCV002060109]|not provided [RCV000920263]|not specified [RCV000503184] Chr2:25234366 [GRCh38]
Chr2:25457235 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_022552.5(DNMT3A):c.1450_1451dup (p.Gln485fs) duplication not provided [RCV000493919] Chr2:25246042..25246043 [GRCh38]
Chr2:25468911..25468912 [GRCh37]
Chr2:2p23.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_175629.2:c.2645G>A single nucleotide variant Acute myeloid leukemia [RCV000590984]|Tatton-Brown-rahman syndrome [RCV000590989] Chr2:2p23.3 pathogenic
DNMT3A, ARG822CYS variation Acute myeloid leukemia [RCV000590990]|Tatton-Brown-rahman syndrome [RCV000590987] Chr2:2p23.3 pathogenic
NM_022552.5(DNMT3A):c.2114T>C (p.Ile705Thr) single nucleotide variant not provided [RCV003328057] Chr2:25240699 [GRCh38]
Chr2:25463568 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1759G>T (p.Gly587Trp) single nucleotide variant not provided [RCV003313518] Chr2:25244247 [GRCh38]
Chr2:25467116 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1123-2A>G single nucleotide variant not provided [RCV003318277] Chr2:25246778 [GRCh38]
Chr2:25469647 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1510del (p.Leu504fs) deletion Tatton-Brown-Rahman overgrowth syndrome [RCV000652288] Chr2:25245297 [GRCh38]
Chr2:25468166 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.2688A>G (p.Pro896=) single nucleotide variant DNMT3A-related condition [RCV003928130]|Tatton-Brown-Rahman overgrowth syndrome [RCV000652289]|not provided [RCV001653973] Chr2:25234330 [GRCh38]
Chr2:25457199 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_022552.5(DNMT3A):c.801C>T (p.Ser267=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000652291]|not provided [RCV001683624] Chr2:25248091 [GRCh38]
Chr2:25470960 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.72+10G>A single nucleotide variant DNMT3A-related condition [RCV003928131]|Tatton-Brown-Rahman overgrowth syndrome [RCV000652292]|not specified [RCV001816636] Chr2:25313903 [GRCh38]
Chr2:25536772 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_022552.5(DNMT3A):c.1554+1G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003832391] Chr2:25245252 [GRCh38]
Chr2:25468121 [GRCh37]
Chr2:2p23.3		 likely pathogenic
GRCh37/hg19 2p23.3(chr2:24315204-26384655)x3 copy number gain not provided [RCV000682143] Chr2:24315204..26384655 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2086C>T (p.Gln696Ter) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000677427] Chr2:25240727 [GRCh38]
Chr2:25463596 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.1628dup (p.Arg544fs) duplication Tatton-Brown-Rahman overgrowth syndrome [RCV000677140] Chr2:25244578..25244579 [GRCh38]
Chr2:25467447..25467448 [GRCh37]
Chr2:2p23.3		 pathogenic
GRCh37/hg19 2p23.3(chr2:24807000-25700000)x3 copy number gain Seizure [RCV000677197] Chr2:24807000..25700000 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1060_1069del (p.Phe354fs) deletion Tatton-Brown-Rahman overgrowth syndrome [RCV000690485] Chr2:25247104..25247113 [GRCh38]
Chr2:25469973..25469982 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.2540_2541del (p.His847fs) deletion Tatton-Brown-Rahman overgrowth syndrome [RCV000700133] Chr2:25235763..25235764 [GRCh38]
Chr2:25458632..25458633 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NC_000002.12:g.(?_25234259)_(25345952_?)del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV000708407] Chr2:25234259..25345952 [GRCh38]
Chr2:25457128..25568821 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1913C>G (p.Ser638Cys) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000709939] Chr2:25243921 [GRCh38]
Chr2:25466790 [GRCh37]
Chr2:2p23.3		 not provided
NM_022552.5(DNMT3A):c.1243del (p.Gln415fs) deletion Tatton-Brown-Rahman overgrowth syndrome [RCV000696106] Chr2:25246656 [GRCh38]
Chr2:25469525 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1648G>A (p.Gly550Arg) single nucleotide variant not provided [RCV001548066] Chr2:25244559 [GRCh38]
Chr2:25467428 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:25563558-25565365)x1 copy number loss not provided [RCV000752883] Chr2:25563558..25565365 [GRCh37]
Chr2:2p23.3		 benign
GRCh37/hg19 2p23.3(chr2:25563088-25565365)x1 copy number loss not provided [RCV000752881] Chr2:25563088..25565365 [GRCh37]
Chr2:2p23.3		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3		 pathogenic
GRCh37/hg19 2p23.3(chr2:25563088-25585084)x0 copy number loss not provided [RCV000752882] Chr2:25563088..25585084 [GRCh37]
Chr2:2p23.3		 benign
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 copy number gain not provided [RCV001532444] Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21		 likely pathogenic
NM_022552.5(DNMT3A):c.1074G>A (p.Thr358=) single nucleotide variant DNMT3A-related condition [RCV003895584]|Tatton-Brown-Rahman overgrowth syndrome [RCV002540947]|not provided [RCV000918917] Chr2:25247099 [GRCh38]
Chr2:25469968 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.855+1G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001706950] Chr2:25248036 [GRCh38]
Chr2:25470905 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.1430-13C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002073238]|not provided [RCV001693350] Chr2:25246077 [GRCh38]
Chr2:25468946 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.2083-272G>A single nucleotide variant not provided [RCV001541706] Chr2:25241002 [GRCh38]
Chr2:25463871 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.448+118G>C single nucleotide variant not provided [RCV001708121] Chr2:25282323 [GRCh38]
Chr2:25505192 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.2479-159T>C single nucleotide variant not provided [RCV001693017] Chr2:25235984 [GRCh38]
Chr2:25458853 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.558G>A (p.Pro186=) single nucleotide variant DNMT3A-related condition [RCV003931216]|Tatton-Brown-Rahman overgrowth syndrome [RCV002568483]|not provided [RCV001575199] Chr2:25275022 [GRCh38]
Chr2:25497891 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.893G>A (p.Gly298Glu) single nucleotide variant not provided [RCV001766110] Chr2:25247712 [GRCh38]
Chr2:25470581 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.928A>G (p.Ile310Val) single nucleotide variant not provided [RCV001547645] Chr2:25247677 [GRCh38]
Chr2:25470546 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys) single nucleotide variant Malignant lymphoma, large B-cell, diffuse [RCV003448984]|Myeloproliferative disorder [RCV001003798]|Tatton-Brown-Rahman overgrowth syndrome [RCV002471010]|not provided [RCV001776076]|not specified [RCV002249617] Chr2:25240420 [GRCh38]
Chr2:25463289 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic|uncertain significance
NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg) single nucleotide variant Acute myeloid leukemia [RCV000760250] Chr2:25235779 [GRCh38]
Chr2:25458648 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.920C>T (p.Pro307Leu) single nucleotide variant Acute myeloid leukemia [RCV000760251] Chr2:25247685 [GRCh38]
Chr2:25470554 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.617G>A (p.Trp206Ter) single nucleotide variant not provided [RCV000760611] Chr2:25274963 [GRCh38]
Chr2:25497832 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.547C>T (p.Arg183Trp) single nucleotide variant not provided [RCV003315046] Chr2:25275033 [GRCh38]
Chr2:25497902 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1667+5G>A single nucleotide variant not provided [RCV003314936] Chr2:25244535 [GRCh38]
Chr2:25467404 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1344C>T (p.Tyr448=) single nucleotide variant DNMT3A-related condition [RCV003956232]|Tatton-Brown-Rahman overgrowth syndrome [RCV002568961]|not provided [RCV001545941] Chr2:25246245 [GRCh38]
Chr2:25469114 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.76G>A (p.Gly26Arg) single nucleotide variant DNMT3A-related condition [RCV003900789]|Tatton-Brown-Rahman overgrowth syndrome [RCV003584975]|not provided [RCV001548200] Chr2:25300240 [GRCh38]
Chr2:25523109 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_022552.5(DNMT3A):c.2712G>A (p.Pro904=) single nucleotide variant DNMT3A-related condition [RCV003942885]|Tatton-Brown-Rahman overgrowth syndrome [RCV000928451]|not provided [RCV001593131] Chr2:25234306 [GRCh38]
Chr2:25457175 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1677C>T (p.Cys559=) single nucleotide variant DNMT3A-related condition [RCV003915786]|Tatton-Brown-Rahman overgrowth syndrome [RCV000951468]|not provided [RCV001683696] Chr2:25244329 [GRCh38]
Chr2:25467198 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_022552.5(DNMT3A):c.774G>C (p.Val258=) single nucleotide variant DNMT3A-related condition [RCV003895607]|not provided [RCV000921921] Chr2:25248118 [GRCh38]
Chr2:25470987 [GRCh37]
Chr2:2p23.3		 likely benign
NM_175629.2(DNMT3A):c.-786T>C single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001521676] Chr2:25343038 [GRCh38]
Chr2:25565907 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.1164C>T (p.His388=) single nucleotide variant DNMT3A-related condition [RCV003942988]|Tatton-Brown-Rahman overgrowth syndrome [RCV002546000] Chr2:25246735 [GRCh38]
Chr2:25469604 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1575G>A (p.Ala525=) single nucleotide variant DNMT3A-related condition [RCV003895484]|Tatton-Brown-Rahman overgrowth syndrome [RCV002540185] Chr2:25244632 [GRCh38]
Chr2:25467501 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1170C>T (p.Ser390=) single nucleotide variant DNMT3A-related condition [RCV003925853]|Tatton-Brown-Rahman overgrowth syndrome [RCV000945513]|not provided [RCV001696224] Chr2:25246729 [GRCh38]
Chr2:25469598 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.1432C>A (p.Arg478=) single nucleotide variant DNMT3A-related condition [RCV003895640]|not provided [RCV000927746] Chr2:25246062 [GRCh38]
Chr2:25468931 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1038G>A (p.Pro346=) single nucleotide variant DNMT3A-related condition [RCV003930450]|Tatton-Brown-Rahman overgrowth syndrome [RCV000877785] Chr2:25247135 [GRCh38]
Chr2:25470004 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2658G>A (p.Gln886=) single nucleotide variant DNMT3A-related condition [RCV003970714]|Tatton-Brown-Rahman overgrowth syndrome [RCV002066271]|not provided [RCV000950906] Chr2:25234360 [GRCh38]
Chr2:25457229 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2331T>C (p.Pro777=) single nucleotide variant DNMT3A-related condition [RCV003970427]|Tatton-Brown-Rahman overgrowth syndrome [RCV001434533] Chr2:25239207 [GRCh38]
Chr2:25462076 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.16T>G (p.Ser6Ala) single nucleotide variant DNMT3A-related condition [RCV003970695]|Tatton-Brown-Rahman overgrowth syndrome [RCV000949244]|not provided [RCV001545677] Chr2:25313969 [GRCh38]
Chr2:25536838 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.120G>A (p.Glu40=) single nucleotide variant Acute myeloid leukemia [RCV002495331]|DNMT3A-related condition [RCV003920472]|Tatton-Brown-Rahman overgrowth syndrome [RCV000878472]|not provided [RCV001585853] Chr2:25300196 [GRCh38]
Chr2:25523065 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_022552.5(DNMT3A):c.1122+3G>A single nucleotide variant DNMT3A-related condition [RCV003898044]|Tatton-Brown-Rahman overgrowth syndrome [RCV001038011] Chr2:25247048 [GRCh38]
Chr2:25469917 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_022552.5(DNMT3A):c.1867del (p.Tyr623fs) deletion Tatton-Brown-Rahman overgrowth syndrome [RCV000778096] Chr2:25243967 [GRCh38]
Chr2:25466836 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.2697C>T (p.Arg899=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000902842]|not provided [RCV001759667] Chr2:25234321 [GRCh38]
Chr2:25457190 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.852C>T (p.Tyr284=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000942648] Chr2:25248040 [GRCh38]
Chr2:25470909 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.792C>T (p.Pro264=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001502320] Chr2:25248100 [GRCh38]
Chr2:25470969 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2628C>T (p.Asp876=) single nucleotide variant DNMT3A-related condition [RCV003970470]|Tatton-Brown-Rahman overgrowth syndrome [RCV000918918] Chr2:25234390 [GRCh38]
Chr2:25457259 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.639+6G>C single nucleotide variant DNMT3A-related condition [RCV003928284]|Tatton-Brown-Rahman overgrowth syndrome [RCV000819867]|not provided [RCV001776038] Chr2:25274935 [GRCh38]
Chr2:25497804 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_022552.5(DNMT3A):c.2495C>T (p.Thr832Ile) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000803514] Chr2:25235809 [GRCh38]
Chr2:25458678 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.2710C>T (p.Pro904Ser) single nucleotide variant Glioblastoma [RCV000785978] Chr2:25234308 [GRCh38]
Chr2:25457177 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.855G>A (p.Glu285=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000792086]|not provided [RCV002305538] Chr2:25248037 [GRCh38]
Chr2:25470906 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:24710112-25987357)x1 copy number loss not provided [RCV001005236] Chr2:24710112..25987357 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2309C>T (p.Ser770Leu) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000798433]|not provided [RCV001585724] Chr2:25240315 [GRCh38]
Chr2:25463184 [GRCh37]
Chr2:2p23.3		 pathogenic|uncertain significance
NM_022552.5(DNMT3A):c.2385G>A (p.Trp795Ter) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000812887] Chr2:25239153 [GRCh38]
Chr2:25462022 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.2063G>A (p.Arg688His) single nucleotide variant Inborn genetic diseases [RCV001267190]|Tatton-Brown-Rahman overgrowth syndrome [RCV000805932]|not provided [RCV001567102] Chr2:25241581 [GRCh38]
Chr2:25464450 [GRCh37]
Chr2:2p23.3		 pathogenic|uncertain significance
NC_000002.12:g.(?_25300139)_(25300243_?)del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV000797482] Chr2:25300139..25300243 [GRCh38]
Chr2:25523008..25523112 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1490G>C (p.Cys497Ser) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000816045] Chr2:25245317 [GRCh38]
Chr2:25468186 [GRCh37]
Chr2:2p23.3		 uncertain significance
Single allele deletion Tatton-Brown-Rahman overgrowth syndrome [RCV000844899] Chr2:25464105..25581265 [GRCh37]
Chr2:2p23.3		 not provided
NM_022552.5(DNMT3A):c.1300G>C (p.Glu434Gln) single nucleotide variant not provided [RCV003239040] Chr2:25246289 [GRCh38]
Chr2:25469158 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.58G>A (p.Glu20Lys) single nucleotide variant not provided [RCV000997084] Chr2:25313927 [GRCh38]
Chr2:25536796 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.137G>A (p.Arg46Gln) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001028019] Chr2:25300179 [GRCh38]
Chr2:25523048 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2162_2168del (p.Lys721fs) deletion not provided [RCV001008212] Chr2:25240645..25240651 [GRCh38]
Chr2:25463514..25463520 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.2469dup (p.Ile824fs) duplication not provided [RCV001009039] Chr2:25236944..25236945 [GRCh38]
Chr2:25459813..25459814 [GRCh37]
Chr2:2p23.3		 pathogenic
GRCh37/hg19 2p23.3(chr2:25464105-25581265)x1 copy number loss not provided [RCV000846829] Chr2:25464105..25581265 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1840G>A (p.Asp614Asn) single nucleotide variant not provided [RCV000997083] Chr2:25244166 [GRCh38]
Chr2:25467035 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.997G>A (p.Asp333Asn) single nucleotide variant Heyn-Sproul-Jackson syndrome [RCV000986096]|not provided [RCV003314654] Chr2:25247608 [GRCh38]
Chr2:25470477 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic
NM_022552.5(DNMT3A):c.446C>T (p.Ala149Val) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001223254] Chr2:25282443 [GRCh38]
Chr2:25505312 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.988T>C (p.Trp330Arg) single nucleotide variant Heyn-Sproul-Jackson syndrome [RCV000986095] Chr2:25247617 [GRCh38]
Chr2:25470486 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.122C>T (p.Pro41Leu) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001246960] Chr2:25300194 [GRCh38]
Chr2:25523063 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2666T>G (p.Leu889Arg) single nucleotide variant Acute myeloid leukemia [RCV003229793] Chr2:25234352 [GRCh38]
Chr2:25457221 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.745C>T (p.Gln249Ter) single nucleotide variant Autism spectrum disorder [RCV003127441] Chr2:25248147 [GRCh38]
Chr2:25471016 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.237C>A (p.Ala79=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003107071] Chr2:25282652 [GRCh38]
Chr2:25505521 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.448+104G>A single nucleotide variant not provided [RCV001565618] Chr2:25282337 [GRCh38]
Chr2:25505206 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1003A>G (p.Lys335Glu) single nucleotide variant not provided [RCV001578215] Chr2:25247602 [GRCh38]
Chr2:25470471 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2322+183C>T single nucleotide variant not provided [RCV001715520] Chr2:25240119 [GRCh38]
Chr2:25462988 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.177+339C>T single nucleotide variant not provided [RCV001555961] Chr2:25299800 [GRCh38]
Chr2:25522669 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1554+255A>T single nucleotide variant not provided [RCV001615993] Chr2:25244998 [GRCh38]
Chr2:25467867 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.835G>A (p.Asp279Asn) single nucleotide variant Inborn genetic diseases [RCV002570687]|Tatton-Brown-Rahman overgrowth syndrome [RCV002568322]|not provided [RCV001550708] Chr2:25248057 [GRCh38]
Chr2:25470926 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_022552.5(DNMT3A):c.493-181dup duplication not provided [RCV001551100] Chr2:25275261..25275262 [GRCh38]
Chr2:25498130..25498131 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.640-3916G>T single nucleotide variant not provided [RCV001557061] Chr2:25252168 [GRCh38]
Chr2:25475037 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2409-253C>T single nucleotide variant not provided [RCV001557129] Chr2:25237258 [GRCh38]
Chr2:25460127 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2207G>A (p.Arg736His) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003227525]|not provided [RCV001557227] Chr2:25240417 [GRCh38]
Chr2:25463286 [GRCh37]
Chr2:2p23.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022552.5(DNMT3A):c.-177-158G>A single nucleotide variant not provided [RCV001587603] Chr2:25314319 [GRCh38]
Chr2:25537188 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.640-1663G>A single nucleotide variant not provided [RCV001719458] Chr2:25249915 [GRCh38]
Chr2:25472784 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.2323-243G>C single nucleotide variant not provided [RCV001719464] Chr2:25239458 [GRCh38]
Chr2:25462327 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.73-234G>C single nucleotide variant not provided [RCV001574084] Chr2:25300477 [GRCh38]
Chr2:25523346 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1279+143G>A single nucleotide variant not provided [RCV001583210] Chr2:25246477 [GRCh38]
Chr2:25469346 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.176dup (p.Val60fs) duplication not provided [RCV001541787] Chr2:25300139..25300140 [GRCh38]
Chr2:25523008..25523009 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1280-7C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000951567]|not provided [RCV001683697] Chr2:25246316 [GRCh38]
Chr2:25469185 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.448+7C>T single nucleotide variant DNMT3A-related condition [RCV003950451]|Tatton-Brown-Rahman overgrowth syndrome [RCV003584776] Chr2:25282434 [GRCh38]
Chr2:25505303 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_022552.5(DNMT3A):c.7G>T (p.Ala3Ser) single nucleotide variant Multiple myeloma [RCV000984105] Chr2:25313978 [GRCh38]
Chr2:25536847 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.187G>A (p.Gly63Ser) single nucleotide variant DNMT3A-related condition [RCV003943135]|Tatton-Brown-Rahman overgrowth syndrome [RCV002547289]|not provided [RCV003886459] Chr2:25282702 [GRCh38]
Chr2:25505571 [GRCh37]
Chr2:2p23.3		 benign|likely benign|uncertain significance
NM_022552.5(DNMT3A):c.2232G>A (p.Lys744=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV000981396] Chr2:25240392 [GRCh38]
Chr2:25463261 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.36C>T (p.Thr12=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001488436] Chr2:25313949 [GRCh38]
Chr2:25536818 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.998A>T (p.Asp333Val) single nucleotide variant DNMT3A-Related Disorder [RCV001249421] Chr2:25247607 [GRCh38]
Chr2:25470476 [GRCh37]
Chr2:2p23.3		 not provided
GRCh37/hg19 2p23.3(chr2:25464105-25581265) copy number loss Tatton-Brown-Rahman overgrowth syndrome [RCV001249339] Chr2:25464105..25581265 [GRCh37]
Chr2:2p23.3		 not provided
NM_022552.5(DNMT3A):c.1363A>T (p.Lys455Ter) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001245491] Chr2:25246226 [GRCh38]
Chr2:25469095 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.958C>T (p.Arg320Ter) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001227614]|not provided [RCV003321812] Chr2:25247647 [GRCh38]
Chr2:25470516 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.210G>A (p.Ala70=) single nucleotide variant DNMT3A-related condition [RCV003913042]|Tatton-Brown-Rahman overgrowth syndrome [RCV000913570]|not provided [RCV001563018] Chr2:25282679 [GRCh38]
Chr2:25505548 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2479-258dup duplication not provided [RCV001548000] Chr2:25236067..25236068 [GRCh38]
Chr2:25458936..25458937 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1714G>C (p.Ala572Pro) single nucleotide variant not provided [RCV002464812] Chr2:25244292 [GRCh38]
Chr2:25467161 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.639+125_639+126insG insertion not provided [RCV001669529] Chr2:25274815..25274816 [GRCh38]
Chr2:25497684..25497685 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.1851+3G>C single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001563649] Chr2:25244152 [GRCh38]
Chr2:25467021 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.492+55G>C single nucleotide variant not provided [RCV001552507] Chr2:25275445 [GRCh38]
Chr2:25498314 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2597+197C>T single nucleotide variant not provided [RCV001719431] Chr2:25235510 [GRCh38]
Chr2:25458379 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.2322+118G>A single nucleotide variant not provided [RCV001552622] Chr2:25240184 [GRCh38]
Chr2:25463053 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.640-155T>C single nucleotide variant not provided [RCV001552642] Chr2:25248407 [GRCh38]
Chr2:25471276 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2186G>A (p.Arg729Gln) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002463468] Chr2:25240438 [GRCh38]
Chr2:25463307 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.493-171C>G single nucleotide variant not provided [RCV001559933] Chr2:25275258 [GRCh38]
Chr2:25498127 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2597+78T>C single nucleotide variant not provided [RCV001555488] Chr2:25235629 [GRCh38]
Chr2:25458498 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2598-62G>A single nucleotide variant not provided [RCV001555857] Chr2:25234482 [GRCh38]
Chr2:25457351 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.640-3826_640-3798del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV002472160] Chr2:25252050..25252078 [GRCh38]
Chr2:25474919..25474947 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.736G>A (p.Ala246Thr) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001043837] Chr2:25248156 [GRCh38]
Chr2:25471025 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2597+30G>A single nucleotide variant not provided [RCV001595384] Chr2:25235677 [GRCh38]
Chr2:25458546 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.178-213A>G single nucleotide variant not provided [RCV001620212] Chr2:25282924 [GRCh38]
Chr2:25505793 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.2657del (p.Gln886fs) deletion not provided [RCV001008921] Chr2:25234361 [GRCh38]
Chr2:25457230 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.2409-290T>C single nucleotide variant not provided [RCV001590425] Chr2:25237295 [GRCh38]
Chr2:25460164 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.72+162G>A single nucleotide variant not provided [RCV001590575] Chr2:25313751 [GRCh38]
Chr2:25536620 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.73-84A>G single nucleotide variant not provided [RCV001617668] Chr2:25300327 [GRCh38]
Chr2:25523196 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.640-49del deletion not provided [RCV001614934] Chr2:25248301 [GRCh38]
Chr2:25471170 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.1279+18G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002072362]|not provided [RCV001596442] Chr2:25246602 [GRCh38]
Chr2:25469471 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_022552.5(DNMT3A):c.240G>A (p.Gln80=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001071421] Chr2:25282649 [GRCh38]
Chr2:25505518 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1904G>A (p.Arg635Gln) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001384970]|not provided [RCV001093354] Chr2:25243930 [GRCh38]
Chr2:25466799 [GRCh37]
Chr2:2p23.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022552.5(DNMT3A):c.178-300G>A single nucleotide variant not provided [RCV001564659] Chr2:25283011 [GRCh38]
Chr2:25505880 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1851+1G>C single nucleotide variant not provided [RCV001093355] Chr2:25244154 [GRCh38]
Chr2:25467023 [GRCh37]
Chr2:2p23.3		 pathogenic
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 copy number gain See cases [RCV001581099] Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21		 pathogenic
NM_022552.5(DNMT3A):c.2062C>T (p.Arg688Cys) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001591662] Chr2:25241582 [GRCh38]
Chr2:25464451 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.911_913del (p.Ser304del) deletion Heyn-Sproul-Jackson syndrome [RCV002510586]|Inborn genetic diseases [RCV001266051]|Tatton-Brown-Rahman overgrowth syndrome [RCV002558718]|not provided [RCV001171613] Chr2:25247692..25247694 [GRCh38]
Chr2:25470561..25470563 [GRCh37]
Chr2:2p23.3		 pathogenic|uncertain significance
NM_022552.5(DNMT3A):c.890G>A (p.Trp297Ter) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001706757]|not provided [RCV003222340] Chr2:25247715 [GRCh38]
Chr2:25470584 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic
NM_022552.5(DNMT3A):c.1443C>T (p.Tyr481=) single nucleotide variant DNMT3A-related condition [RCV003968425]|Tatton-Brown-Rahman overgrowth syndrome [RCV002539584]|not provided [RCV001652438] Chr2:25246051 [GRCh38]
Chr2:25468920 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_022552.5(DNMT3A):c.177+213C>T single nucleotide variant not provided [RCV001536340] Chr2:25299926 [GRCh38]
Chr2:25522795 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.2409-127G>C single nucleotide variant not provided [RCV001587004] Chr2:25237132 [GRCh38]
Chr2:25460001 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1852-37C>A single nucleotide variant not provided [RCV001649612] Chr2:25244019 [GRCh38]
Chr2:25466888 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.1194C>T (p.Ala398=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002570760]|not provided [RCV001567167] Chr2:25246705 [GRCh38]
Chr2:25469574 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2546C>A (p.Pro849His) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001034840] Chr2:25235758 [GRCh38]
Chr2:25458627 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1706C>T (p.Pro569Leu) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001060402]|not provided [RCV001776115] Chr2:25244300 [GRCh38]
Chr2:25467169 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.700G>A (p.Gly234Arg) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001042541] Chr2:25248192 [GRCh38]
Chr2:25471061 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1035_1045del (p.Met345fs) deletion Acute myeloid leukemia [RCV001003799] Chr2:25247128..25247138 [GRCh38]
Chr2:25469997..25470007 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.1443C>A (p.Tyr481Ter) single nucleotide variant not provided [RCV001093356] Chr2:25246051 [GRCh38]
Chr2:25468920 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.705del (p.Glu235fs) deletion Intellectual disability [RCV001255352] Chr2:25248187 [GRCh38]
Chr2:25471056 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.2146G>A (p.Val716Ile) single nucleotide variant not provided [RCV001254801] Chr2:25240667 [GRCh38]
Chr2:25463536 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1238dup (p.Phe414fs) duplication Inborn genetic diseases [RCV001266123]|Tatton-Brown-Rahman overgrowth syndrome [RCV003222290] Chr2:25246660..25246661 [GRCh38]
Chr2:25469529..25469530 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.886G>C (p.Val296Leu) single nucleotide variant Inborn genetic diseases [RCV001267236] Chr2:25247719 [GRCh38]
Chr2:25470588 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2206C>T (p.Arg736Cys) single nucleotide variant Intellectual disability [RCV001260610]|Tatton-Brown-Rahman overgrowth syndrome [RCV001340498]|not provided [RCV003319458] Chr2:25240418 [GRCh38]
Chr2:25463287 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic|uncertain significance
NM_022552.5(DNMT3A):c.67C>T (p.Arg23Ter) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001262399] Chr2:25313918 [GRCh38]
Chr2:25536787 [GRCh37]
Chr2:2p23.3		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_022552.5(DNMT3A):c.1668G>C (p.Arg556Ser) single nucleotide variant Rare genetic intellectual disability [RCV001256990] Chr2:25244338 [GRCh38]
Chr2:25467207 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.640-1439G>A single nucleotide variant DNMT3A-related condition [RCV003953611]|not provided [RCV001254995] Chr2:25249691 [GRCh38]
Chr2:25472560 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_022552.5(DNMT3A):c.1279G>T (p.Glu427Ter) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003320345] Chr2:25246620 [GRCh38]
Chr2:25469489 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.2012C>T (p.Thr671Met) single nucleotide variant not provided [RCV001311187] Chr2:25241632 [GRCh38]
Chr2:25464501 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2722T>A (p.Tyr908Asn) single nucleotide variant Intellectual disability [RCV001260611] Chr2:25234296 [GRCh38]
Chr2:25457165 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.493-111G>T single nucleotide variant not provided [RCV001540201] Chr2:25275198 [GRCh38]
Chr2:25498067 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.448+1G>A single nucleotide variant not provided [RCV001268146] Chr2:25282440 [GRCh38]
Chr2:25505309 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.1937-2A>G single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001258351]|not provided [RCV001560963] Chr2:25241709 [GRCh38]
Chr2:25464578 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.2037del (p.Lys680fs) deletion Inborn genetic diseases [RCV001267322] Chr2:25241607 [GRCh38]
Chr2:25464476 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1643T>C (p.Met548Thr) single nucleotide variant Inborn genetic diseases [RCV001266174] Chr2:25244564 [GRCh38]
Chr2:25467433 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg) single nucleotide variant Intellectual disability [RCV001260609]|Tatton-Brown-Rahman overgrowth syndrome [RCV001879994] Chr2:25247611 [GRCh38]
Chr2:25470480 [GRCh37]
Chr2:2p23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022552.5(DNMT3A):c.2726T>C (p.Phe909Ser) single nucleotide variant not provided [RCV001280739] Chr2:25234292 [GRCh38]
Chr2:25457161 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.230C>T (p.Ser77Phe) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001330537] Chr2:25282659 [GRCh38]
Chr2:25505528 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1345G>A (p.Ala449Thr) single nucleotide variant Intellectual disability [RCV001281461]|Tatton-Brown-Rahman overgrowth syndrome [RCV003584877] Chr2:25246244 [GRCh38]
Chr2:25469113 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter) single nucleotide variant Intellectual disability [RCV001328488]|Tatton-Brown-Rahman overgrowth syndrome [RCV003584898] Chr2:25282462 [GRCh38]
Chr2:25505331 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic
NM_022552.5(DNMT3A):c.2026C>T (p.Arg676Trp) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001294838] Chr2:25241618 [GRCh38]
Chr2:25464487 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1792C>T (p.Arg598Ter) single nucleotide variant See cases [RCV002252677]|Tatton-Brown-Rahman overgrowth syndrome [RCV001382894]|not provided [RCV002284489] Chr2:25244214 [GRCh38]
Chr2:25467083 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic
NM_022552.5(DNMT3A):c.2408+223T>C single nucleotide variant not provided [RCV001538178] Chr2:25238907 [GRCh38]
Chr2:25461776 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1097G>A (p.Arg366His) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746587]|not provided [RCV001269839] Chr2:25247076 [GRCh38]
Chr2:25469945 [GRCh37]
Chr2:2p23.3		 likely pathogenic|uncertain significance
NM_022552.5(DNMT3A):c.856-10G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001382387] Chr2:25247759 [GRCh38]
Chr2:25470628 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.386C>T (p.Ser129Leu) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001346704] Chr2:25282503 [GRCh38]
Chr2:25505372 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1299del (p.Glu434fs) deletion See cases [RCV001420316] Chr2:25246290 [GRCh38]
Chr2:25469159 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1490G>T (p.Cys497Phe) single nucleotide variant See cases [RCV001420199] Chr2:25245317 [GRCh38]
Chr2:25468186 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.1004A>G (p.Lys335Arg) single nucleotide variant Autism spectrum disorder [RCV001871979]|Neonatal hypotonia [RCV001376132]|not provided [RCV002285481] Chr2:25247601 [GRCh38]
Chr2:25470470 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic|not provided
NM_022552.5(DNMT3A):c.1711dup (p.Ala571fs) duplication Tatton-Brown-Rahman overgrowth syndrome [RCV001384839] Chr2:25244294..25244295 [GRCh38]
Chr2:25467163..25467164 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic
NM_022552.5(DNMT3A):c.1757G>T (p.Cys586Phe) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001527373] Chr2:25244249 [GRCh38]
Chr2:25467118 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.2173+26C>T single nucleotide variant not provided [RCV001619442] Chr2:25240614 [GRCh38]
Chr2:25463483 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.-6G>A single nucleotide variant not provided [RCV001713593] Chr2:25313990 [GRCh38]
Chr2:25536859 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_022552.5(DNMT3A):c.765C>T (p.Ser255=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001452219] Chr2:25248127 [GRCh38]
Chr2:25470996 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1266G>A (p.Leu422=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001511617]|not provided [RCV001534983] Chr2:25246633 [GRCh38]
Chr2:25469502 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.1907T>A (p.Val636Glu) single nucleotide variant not provided [RCV001589717] Chr2:25243927 [GRCh38]
Chr2:25466796 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.2478+1G>A single nucleotide variant not provided [RCV001582987] Chr2:25236935 [GRCh38]
Chr2:25459804 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.639+6G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746595]|not provided [RCV001670740] Chr2:25274935 [GRCh38]
Chr2:25497804 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_022552.5(DNMT3A):c.449-153G>C single nucleotide variant not provided [RCV001716898] Chr2:25275696 [GRCh38]
Chr2:25498565 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.51G>A (p.Ala17=) single nucleotide variant DNMT3A-related condition [RCV003900595]|Tatton-Brown-Rahman overgrowth syndrome [RCV001463094] Chr2:25313934 [GRCh38]
Chr2:25536803 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1122+7G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001521674]|not provided [RCV001725222] Chr2:25247044 [GRCh38]
Chr2:25469913 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.27C>T (p.Pro9=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001521675]|not provided [RCV001724335] Chr2:25313958 [GRCh38]
Chr2:25536827 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.1582_1584del (p.Tyr528del) deletion not provided [RCV001537045] Chr2:25244623..25244625 [GRCh38]
Chr2:25467492..25467494 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1346del (p.Ala449fs) deletion not provided [RCV001727124] Chr2:25246243 [GRCh38]
Chr2:25469112 [GRCh37]
Chr2:2p23.3		 pathogenic
GRCh37/hg19 2p24.1-23.3(chr2:22439520-25608211)x1 copy number loss 2p24.1p23.3 microdeletion syndrome [RCV002247168] Chr2:22439520..25608211 [GRCh37]
Chr2:2p24.1-23.3		 pathogenic|likely pathogenic
NM_022552.5(DNMT3A):c.2027G>A (p.Arg676Gln) single nucleotide variant not provided [RCV001759046] Chr2:25241617 [GRCh38]
Chr2:25464486 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.233T>C (p.Met78Thr) single nucleotide variant not provided [RCV001759173] Chr2:25282656 [GRCh38]
Chr2:25505525 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1976G>A (p.Arg659His) single nucleotide variant not provided [RCV001769699] Chr2:25241668 [GRCh38]
Chr2:25464537 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2693T>C (p.Ile898Thr) single nucleotide variant Neurodevelopmental disorder [RCV001780007] Chr2:25234325 [GRCh38]
Chr2:25457194 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.1280A>T (p.Glu427Val) single nucleotide variant Autism spectrum disorder [RCV003127442] Chr2:25246309 [GRCh38]
Chr2:25469178 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2104G>A (p.Asp702Asn) single nucleotide variant not provided [RCV001776996] Chr2:25240709 [GRCh38]
Chr2:25463578 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2017G>A (p.Gly673Ser) single nucleotide variant not provided [RCV001755578] Chr2:25241627 [GRCh38]
Chr2:25464496 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2622T>A (p.Tyr874Ter) single nucleotide variant not provided [RCV001755340] Chr2:25234396 [GRCh38]
Chr2:25457265 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.656A>G (p.Lys219Arg) single nucleotide variant Acute myeloid leukemia [RCV002482287]|Tatton-Brown-Rahman overgrowth syndrome [RCV003772097]|not provided [RCV001755546] Chr2:25248236 [GRCh38]
Chr2:25471105 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.64G>A (p.Asp22Asn) single nucleotide variant not provided [RCV001768222] Chr2:25313921 [GRCh38]
Chr2:25536790 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2322+1G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001801261] Chr2:25240301 [GRCh38]
Chr2:25463170 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.178-9C>G single nucleotide variant not provided [RCV001759192] Chr2:25282720 [GRCh38]
Chr2:25505589 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.899T>C (p.Leu300Pro) single nucleotide variant not provided [RCV001759285] Chr2:25247706 [GRCh38]
Chr2:25470575 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2173+1G>A single nucleotide variant not provided [RCV001780993] Chr2:25240639 [GRCh38]
Chr2:25463508 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.2398G>A (p.Gly800Ser) single nucleotide variant not provided [RCV001755484] Chr2:25239140 [GRCh38]
Chr2:25462009 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1631G>A (p.Arg544His) single nucleotide variant not provided [RCV001757355] Chr2:25244576 [GRCh38]
Chr2:25467445 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2145C>T (p.Ile715=) single nucleotide variant not specified [RCV001817391] Chr2:25240668 [GRCh38]
Chr2:25463537 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.899T>G (p.Leu300Arg) single nucleotide variant not provided [RCV001753354] Chr2:25247706 [GRCh38]
Chr2:25470575 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.862C>T (p.Arg288Trp) single nucleotide variant not provided [RCV001755373] Chr2:25247743 [GRCh38]
Chr2:25470612 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.12G>C (p.Met4Ile) single nucleotide variant not provided [RCV001755679] Chr2:25313973 [GRCh38]
Chr2:25536842 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1555-1G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001775240] Chr2:25244653 [GRCh38]
Chr2:25467522 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1061T>C (p.Phe354Ser) single nucleotide variant not provided [RCV001776721] Chr2:25247112 [GRCh38]
Chr2:25469981 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2601A>C (p.Val867=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746602]|not provided [RCV001755395] Chr2:25234417 [GRCh38]
Chr2:25457286 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.875T>C (p.Ile292Thr) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002542370]|not provided [RCV001806945] Chr2:25247730 [GRCh38]
Chr2:25470599 [GRCh37]
Chr2:2p23.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022552.5(DNMT3A):c.1668-1G>A single nucleotide variant not provided [RCV001810521] Chr2:25244339 [GRCh38]
Chr2:25467208 [GRCh37]
Chr2:2p23.3		 not provided
NM_022552.5(DNMT3A):c.1385C>T (p.Ala462Val) single nucleotide variant DNMT3A-related condition [RCV003968578]|Tatton-Brown-Rahman overgrowth syndrome [RCV002542576]|not specified [RCV001819492] Chr2:25246204 [GRCh38]
Chr2:25469073 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_022552.5(DNMT3A):c.1647C>A (p.Cys549Ter) single nucleotide variant Obesity [RCV001807541]|Tatton-Brown-Rahman overgrowth syndrome [RCV003772257] Chr2:25244560 [GRCh38]
Chr2:25467429 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.287G>A (p.Arg96Gln) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002022118] Chr2:25282602 [GRCh38]
Chr2:25505471 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1791del (p.Arg598fs) deletion Tatton-Brown-Rahman overgrowth syndrome [RCV001839358] Chr2:25244215 [GRCh38]
Chr2:25467084 [GRCh37]
Chr2:2p23.3		 pathogenic
NC_000002.11:g.(?_24443763)_(27746306_?)dup duplication Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001911738] Chr2:24443763..27746306 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.694G>A (p.Gly232Arg) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001986296] Chr2:25248198 [GRCh38]
Chr2:25471067 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:25380572-25524722)x1 copy number loss not provided [RCV001827618] Chr2:25380572..25524722 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.149G>A (p.Arg50Gln) single nucleotide variant not provided [RCV001840896] Chr2:25300167 [GRCh38]
Chr2:25523036 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2059G>A (p.Val687Ile) single nucleotide variant Heyn-Sproul-Jackson syndrome [RCV001823574]|Tatton-Brown-Rahman overgrowth syndrome [RCV002542734] Chr2:25241585 [GRCh38]
Chr2:25464454 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1851+2T>C single nucleotide variant not provided [RCV001844436] Chr2:25244153 [GRCh38]
Chr2:25467022 [GRCh37]
Chr2:2p23.3		 not provided
NM_022552.5(DNMT3A):c.113G>A (p.Arg38His) single nucleotide variant DNMT3A-related condition [RCV003416488]|Tatton-Brown-Rahman overgrowth syndrome [RCV001837416] Chr2:25300203 [GRCh38]
Chr2:25523072 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.576G>A (p.Ala192=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001939981] Chr2:25275004 [GRCh38]
Chr2:25497873 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_022552.5(DNMT3A):c.2597+3A>G single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002030662] Chr2:25235704 [GRCh38]
Chr2:25458573 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2409-1G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002046908] Chr2:25237006 [GRCh38]
Chr2:25459875 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.1057G>A (p.Ala353Thr) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001992342] Chr2:25247116 [GRCh38]
Chr2:25469985 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.343C>G (p.Pro115Ala) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001881268] Chr2:25282546 [GRCh38]
Chr2:25505415 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1274C>T (p.Pro425Leu) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001931346] Chr2:25246625 [GRCh38]
Chr2:25469494 [GRCh37]
Chr2:2p23.3		 uncertain significance
NC_000002.11:g.(?_25458556)_(25458714_?)del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV001958951] Chr2:25458556..25458714 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.98G>A (p.Arg33His) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001939245]|not provided [RCV003329424] Chr2:25300218 [GRCh38]
Chr2:25523087 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2678G>A (p.Trp893Ter) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002030720] Chr2:25234340 [GRCh38]
Chr2:25457209 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic
NM_022552.5(DNMT3A):c.1895A>G (p.Lys632Arg) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV001956676] Chr2:25243939 [GRCh38]
Chr2:25466808 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.270T>C (p.Asn90=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002105253] Chr2:25282619 [GRCh38]
Chr2:25505488 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1555-13C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002087482] Chr2:25244665 [GRCh38]
Chr2:25467534 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1074G>T (p.Thr358=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002089597] Chr2:25247099 [GRCh38]
Chr2:25469968 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2478+13G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002074911] Chr2:25236923 [GRCh38]
Chr2:25459792 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2538G>A (p.Gln846=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002189029] Chr2:25235766 [GRCh38]
Chr2:25458635 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1978T>C (p.Tyr660His) single nucleotide variant Autism spectrum disorder [RCV002226414]|not provided [RCV003238890] Chr2:25241666 [GRCh38]
Chr2:25464535 [GRCh37]
Chr2:2p23.3		 likely pathogenic|not provided
NM_022552.5(DNMT3A):c.1122+17G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002187629] Chr2:25247034 [GRCh38]
Chr2:25469903 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2083-19G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002112970] Chr2:25240749 [GRCh38]
Chr2:25463618 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.73-18C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002133451] Chr2:25300261 [GRCh38]
Chr2:25523130 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.609G>C (p.Arg203=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002196323] Chr2:25274971 [GRCh38]
Chr2:25497840 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2598-7C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002093977] Chr2:25234427 [GRCh38]
Chr2:25457296 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.768C>T (p.Pro256=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002082065] Chr2:25248124 [GRCh38]
Chr2:25470993 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2478+2T>G single nucleotide variant not provided [RCV002221989] Chr2:25236934 [GRCh38]
Chr2:25459803 [GRCh37]
Chr2:2p23.3		 not provided
NM_022552.5(DNMT3A):c.1676G>A (p.Cys559Tyr) single nucleotide variant Acute myeloid leukemia [RCV002249029] Chr2:25244330 [GRCh38]
Chr2:25467199 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_153759.3(DNMT3A):c.1937C>T (p.Thr646Met) single nucleotide variant not provided [RCV002221939]   uncertain significance
NM_022552.5(DNMT3A):c.2659A>C (p.Arg887=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002123748] Chr2:25234359 [GRCh38]
Chr2:25457228 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2083-20C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002083125] Chr2:25240750 [GRCh38]
Chr2:25463619 [GRCh37]
Chr2:2p23.3		 likely benign
NC_000002.11:g.(?_25497790)_(25498432_?)del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV003113868] Chr2:25497790..25498432 [GRCh37]
Chr2:2p23.3		 pathogenic
NC_000002.11:g.(?_24443763)_(26029226_?)del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV003113869] Chr2:24443763..26029226 [GRCh37]
Chr2:2p23.3		 pathogenic
NC_000002.11:g.(?_24443763)_(29022169_?)dup duplication Tatton-Brown-Rahman overgrowth syndrome [RCV003113871]|not provided [RCV003113870] Chr2:24443763..29022169 [GRCh37]
Chr2:2p23.3-23.2		 uncertain significance|no classifications from unflagged records
NC_000002.11:g.(?_24443763)_(30143525_?)dup duplication not provided [RCV003113441] Chr2:24443763..30143525 [GRCh37]
Chr2:2p23.3-23.1		 uncertain significance
NC_000002.11:g.(?_25383950)_(25523132_?)del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV003122365]|not provided [RCV003122366] Chr2:25383950..25523132 [GRCh37]
Chr2:2p23.3		 pathogenic|uncertain significance|no classifications from unflagged records
NM_022552.5(DNMT3A):c.793G>A (p.Val265Met) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003121458] Chr2:25248099 [GRCh38]
Chr2:25470968 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2245C>A (p.Arg749Ser) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003118953] Chr2:25240379 [GRCh38]
Chr2:25463248 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1899C>T (p.Pro633=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003121044] Chr2:25243935 [GRCh38]
Chr2:25466804 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2479-1G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003153226] Chr2:25235826 [GRCh38]
Chr2:25458695 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.1243C>T (p.Gln415Ter) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002273282] Chr2:25246656 [GRCh38]
Chr2:25469525 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1787G>A (p.Arg596Gln) single nucleotide variant Inborn genetic diseases [RCV003096221]|Tatton-Brown-Rahman overgrowth syndrome [RCV003585241]|not provided [RCV002275584] Chr2:25244219 [GRCh38]
Chr2:25467088 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2337G>A (p.Met779Ile) single nucleotide variant not provided [RCV002273698] Chr2:25239201 [GRCh38]
Chr2:25462070 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1929C>T (p.Ile643=) single nucleotide variant not provided [RCV002276071] Chr2:25243905 [GRCh38]
Chr2:25466774 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.626G>A (p.Arg209His) single nucleotide variant not provided [RCV002265368] Chr2:25274954 [GRCh38]
Chr2:25497823 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2311C>G (p.Arg771Gly) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002289228] Chr2:25240313 [GRCh38]
Chr2:25463182 [GRCh37]
Chr2:2p23.3		 likely pathogenic
GRCh37/hg19 2p23.3(chr2:24641638-26473160)x1 copy number loss Tatton-Brown-Rahman overgrowth syndrome [RCV002276513] Chr2:24641638..26473160 [GRCh37]
Chr2:2p23.3		 not provided
NM_022552.5(DNMT3A):c.289A>C (p.Ser97Arg) single nucleotide variant not provided [RCV002274527] Chr2:25282600 [GRCh38]
Chr2:25505469 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:24653863-25574264)x1 copy number loss not provided [RCV002265531] Chr2:24653863..25574264 [GRCh37]
Chr2:2p23.3		 not provided
NM_022552.5(DNMT3A):c.1550G>A (p.Cys517Tyr) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002290149] Chr2:25245257 [GRCh38]
Chr2:25468126 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2411C>A (p.Pro804Gln) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002273343] Chr2:25237003 [GRCh38]
Chr2:25459872 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2185C>T (p.Arg729Trp) single nucleotide variant not provided [RCV002293903] Chr2:25240439 [GRCh38]
Chr2:25463308 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.265C>T (p.Pro89Ser) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746613]|not provided [RCV002279023] Chr2:25282624 [GRCh38]
Chr2:25505493 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1906G>A (p.Val636Met) single nucleotide variant not provided [RCV002263200] Chr2:25243928 [GRCh38]
Chr2:25466797 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.917G>A (p.Trp306Ter) single nucleotide variant Neurodevelopmental disorder [RCV002277693] Chr2:25247688 [GRCh38]
Chr2:25470557 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.2327A>C (p.Asn776Thr) single nucleotide variant not provided [RCV002283008] Chr2:25239211 [GRCh38]
Chr2:25462080 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1585G>A (p.Asp529Asn) single nucleotide variant See cases [RCV002287647] Chr2:25244622 [GRCh38]
Chr2:25467491 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.505C>T (p.Arg169Trp) single nucleotide variant not provided [RCV002283016] Chr2:25275075 [GRCh38]
Chr2:25497944 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.905G>C (p.Gly302Ala) single nucleotide variant Heyn-Sproul-Jackson syndrome [RCV003228061] Chr2:25247700 [GRCh38]
Chr2:25470569 [GRCh37]
Chr2:2p23.3		 likely pathogenic
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
NM_022552.5(DNMT3A):c.460A>G (p.Lys154Glu) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002471605] Chr2:25275532 [GRCh38]
Chr2:25498401 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.148C>T (p.Arg50Trp) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002471932] Chr2:25300168 [GRCh38]
Chr2:25523037 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:25163058-25461523)x3 copy number gain not provided [RCV002473449] Chr2:25163058..25461523 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.374T>C (p.Leu125Pro) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002299267] Chr2:25282515 [GRCh38]
Chr2:25505384 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2009T>C (p.Ile670Thr) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002303937] Chr2:25241635 [GRCh38]
Chr2:25464504 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.206C>T (p.Pro69Leu) single nucleotide variant not provided [RCV002305936] Chr2:25282683 [GRCh38]
Chr2:25505552 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1675T>C (p.Cys559Arg) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002305008] Chr2:25244331 [GRCh38]
Chr2:25467200 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2076G>C (p.Gln692His) single nucleotide variant not provided [RCV002306224] Chr2:25241568 [GRCh38]
Chr2:25464437 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2403G>A (p.Met801Ile) single nucleotide variant not provided [RCV002300825] Chr2:25239135 [GRCh38]
Chr2:25462004 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.625C>G (p.Arg209Gly) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002299024] Chr2:25274955 [GRCh38]
Chr2:25497824 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1342_1343dup (p.Ala449fs) duplication Tatton-Brown-Rahman overgrowth syndrome [RCV002971830] Chr2:25246245..25246246 [GRCh38]
Chr2:25469114..25469115 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1851+20C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002967849] Chr2:25244135 [GRCh38]
Chr2:25467004 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2479-15C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002730777] Chr2:25235840 [GRCh38]
Chr2:25458709 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.232A>G (p.Met78Val) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003034500] Chr2:25282657 [GRCh38]
Chr2:25505526 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2412G>C (p.Pro804=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002618293] Chr2:25237002 [GRCh38]
Chr2:25459871 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1421G>A (p.Arg474His) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002779990] Chr2:25246168 [GRCh38]
Chr2:25469037 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.68G>A (p.Arg23Gln) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002756282] Chr2:25313917 [GRCh38]
Chr2:25536786 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1555-8C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002881768] Chr2:25244660 [GRCh38]
Chr2:25467529 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1114G>A (p.Val372Ile) single nucleotide variant Inborn genetic diseases [RCV002979243]|Tatton-Brown-Rahman overgrowth syndrome [RCV002972277] Chr2:25247059 [GRCh38]
Chr2:25469928 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2287G>A (p.Val763Ile) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003095411] Chr2:25240337 [GRCh38]
Chr2:25463206 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1149G>A (p.Leu383=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002614682] Chr2:25246750 [GRCh38]
Chr2:25469619 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.838G>T (p.Asp280Tyr) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003033872] Chr2:25248054 [GRCh38]
Chr2:25470923 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.448+48C>G single nucleotide variant DNMT3A-related condition [RCV003404171]|Inborn genetic diseases [RCV002861219] Chr2:25282393 [GRCh38]
Chr2:25505262 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.696G>A (p.Gly232=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002615878] Chr2:25248196 [GRCh38]
Chr2:25471065 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1102G>A (p.Ala368Thr) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003017293] Chr2:25247071 [GRCh38]
Chr2:25469940 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1140G>C (p.Ala380=) single nucleotide variant DNMT3A-related condition [RCV003973465]|Tatton-Brown-Rahman overgrowth syndrome [RCV002690262] Chr2:25246759 [GRCh38]
Chr2:25469628 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1123-4C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002971786] Chr2:25246780 [GRCh38]
Chr2:25469649 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2682C>T (p.Ser894=) single nucleotide variant DNMT3A-related condition [RCV003906369]|Tatton-Brown-Rahman overgrowth syndrome [RCV002923587] Chr2:25234336 [GRCh38]
Chr2:25457205 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1116C>T (p.Val372=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003039414] Chr2:25247057 [GRCh38]
Chr2:25469926 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1231C>T (p.Leu411=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002785784] Chr2:25246668 [GRCh38]
Chr2:25469537 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1852-9A>G single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002800393] Chr2:25243991 [GRCh38]
Chr2:25466860 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1833T>A (p.Asn611Lys) single nucleotide variant Inborn genetic diseases [RCV002759529] Chr2:25244173 [GRCh38]
Chr2:25467042 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2373C>T (p.Ala791=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002923170] Chr2:25239165 [GRCh38]
Chr2:25462034 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.669A>T (p.Gly223=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002866811] Chr2:25248223 [GRCh38]
Chr2:25471092 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1310C>T (p.Thr437Met) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003079518] Chr2:25246279 [GRCh38]
Chr2:25469148 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.840C>T (p.Asp280=) single nucleotide variant DNMT3A-related condition [RCV003943718]|Tatton-Brown-Rahman overgrowth syndrome [RCV003019351] Chr2:25248052 [GRCh38]
Chr2:25470921 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.75C>T (p.Asp25=) single nucleotide variant DNMT3A-related condition [RCV003926618]|Tatton-Brown-Rahman overgrowth syndrome [RCV002975743] Chr2:25300241 [GRCh38]
Chr2:25523110 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1270C>T (p.Pro424Ser) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002796938] Chr2:25246629 [GRCh38]
Chr2:25469498 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2412G>A (p.Pro804=) single nucleotide variant DNMT3A-related condition [RCV003973502]|Tatton-Brown-Rahman overgrowth syndrome [RCV002847383] Chr2:25237002 [GRCh38]
Chr2:25459871 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1446G>T (p.Glu482Asp) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002659651] Chr2:25246048 [GRCh38]
Chr2:25468917 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1581G>A (p.Gln527=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002740020] Chr2:25244626 [GRCh38]
Chr2:25467495 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1989G>A (p.Ser663=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002619931] Chr2:25241655 [GRCh38]
Chr2:25464524 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1668-12G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002913050] Chr2:25244350 [GRCh38]
Chr2:25467219 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2082+20C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003080619] Chr2:25241542 [GRCh38]
Chr2:25464411 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1059G>A (p.Ala353=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002619343] Chr2:25247114 [GRCh38]
Chr2:25469983 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1528G>A (p.Val510Ile) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002621039] Chr2:25245279 [GRCh38]
Chr2:25468148 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.855+7G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002886146] Chr2:25248030 [GRCh38]
Chr2:25470899 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2115T>C (p.Ile705=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002866291] Chr2:25240698 [GRCh38]
Chr2:25463567 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1405G>T (p.Glu469Ter) single nucleotide variant Inborn genetic diseases [RCV002763277] Chr2:25246184 [GRCh38]
Chr2:25469053 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1123-10C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002624033] Chr2:25246786 [GRCh38]
Chr2:25469655 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1123-14G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002917236] Chr2:25246790 [GRCh38]
Chr2:25469659 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.55C>T (p.Arg19Trp) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002644415]|not provided [RCV003491262] Chr2:25313930 [GRCh38]
Chr2:25536799 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.337G>A (p.Gly113Arg) single nucleotide variant DNMT3A-related condition [RCV003973718]|Tatton-Brown-Rahman overgrowth syndrome [RCV002624801] Chr2:25282552 [GRCh38]
Chr2:25505421 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.113G>T (p.Arg38Leu) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002957751] Chr2:25300203 [GRCh38]
Chr2:25523072 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1910T>C (p.Leu637Pro) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002701222] Chr2:25243924 [GRCh38]
Chr2:25466793 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.480C>T (p.Ser160=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002957547] Chr2:25275512 [GRCh38]
Chr2:25498381 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2647T>C (p.Leu883=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003005093] Chr2:25234371 [GRCh38]
Chr2:25457240 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1047G>A (p.Ser349=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002917468] Chr2:25247126 [GRCh38]
Chr2:25469995 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1014+19C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003083753] Chr2:25247572 [GRCh38]
Chr2:25470441 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.640-17G>C single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002852512] Chr2:25248269 [GRCh38]
Chr2:25471138 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1242C>T (p.Phe414=) single nucleotide variant DNMT3A-related condition [RCV003898900]|Tatton-Brown-Rahman overgrowth syndrome [RCV002624998] Chr2:25246657 [GRCh38]
Chr2:25469526 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1776C>T (p.Tyr592=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003082609] Chr2:25244230 [GRCh38]
Chr2:25467099 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.269A>G (p.Asn90Ser) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002890795] Chr2:25282620 [GRCh38]
Chr2:25505489 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1127C>A (p.Ala376Asp) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002929167] Chr2:25246772 [GRCh38]
Chr2:25469641 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.309G>A (p.Glu103=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003085642] Chr2:25282580 [GRCh38]
Chr2:25505449 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1935A>T (p.Thr645=) single nucleotide variant not provided [RCV002508991] Chr2:25243899 [GRCh38]
Chr2:25466768 [GRCh37]
Chr2:2p23.3		 not provided
NM_022552.5(DNMT3A):c.1279+13A>C single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002933111] Chr2:25246607 [GRCh38]
Chr2:25469476 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.185G>A (p.Ser62Asn) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002572791] Chr2:25282704 [GRCh38]
Chr2:25505573 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2067C>T (p.Ser689=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002663412] Chr2:25241577 [GRCh38]
Chr2:25464446 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.751A>C (p.Thr251Pro) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002595679] Chr2:25248141 [GRCh38]
Chr2:25471010 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1055G>A (p.Ser352Asn) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002918840] Chr2:25247118 [GRCh38]
Chr2:25469987 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2597+12G>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002894647] Chr2:25235695 [GRCh38]
Chr2:25458564 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2408+14C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003005097] Chr2:25239116 [GRCh38]
Chr2:25461985 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1956C>T (p.Asp652=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002966173] Chr2:25241688 [GRCh38]
Chr2:25464557 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.19A>G (p.Ser7Gly) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002720937] Chr2:25313966 [GRCh38]
Chr2:25536835 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.853G>T (p.Glu285Ter) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003031398] Chr2:25248039 [GRCh38]
Chr2:25470908 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1475-4C>G single nucleotide variant DNMT3A-related condition [RCV003918914]|Tatton-Brown-Rahman overgrowth syndrome [RCV002602784] Chr2:25245336 [GRCh38]
Chr2:25468205 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2245C>T (p.Arg749Cys) single nucleotide variant Melanoma [RCV003222461]|Tatton-Brown-Rahman overgrowth syndrome [RCV002651442] Chr2:25240379 [GRCh38]
Chr2:25463248 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.640-1461C>T single nucleotide variant Inborn genetic diseases [RCV002855699] Chr2:25249713 [GRCh38]
Chr2:25472582 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.639G>A (p.Glu213=) single nucleotide variant Inborn genetic diseases [RCV002896482] Chr2:25274941 [GRCh38]
Chr2:25497810 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.128C>T (p.Thr43Ile) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003091713] Chr2:25300188 [GRCh38]
Chr2:25523057 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1611C>T (p.Cys537=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002599291]|not provided [RCV003883882] Chr2:25244596 [GRCh38]
Chr2:25467465 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2013G>A (p.Thr671=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002649640] Chr2:25241631 [GRCh38]
Chr2:25464500 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1758C>T (p.Cys586=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002672260] Chr2:25244248 [GRCh38]
Chr2:25467117 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.660C>A (p.Val220=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002716990] Chr2:25248232 [GRCh38]
Chr2:25471101 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1817A>G (p.Gln606Arg) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002810238] Chr2:25244189 [GRCh38]
Chr2:25467058 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2597+7G>A single nucleotide variant DNMT3A-related condition [RCV003973692]|Tatton-Brown-Rahman overgrowth syndrome [RCV002627882] Chr2:25235700 [GRCh38]
Chr2:25458569 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1429+17T>C single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003061348] Chr2:25246143 [GRCh38]
Chr2:25469012 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1827C>T (p.Phe609=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002899948] Chr2:25244179 [GRCh38]
Chr2:25467048 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2643C>T (p.Ser881=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002937165] Chr2:25234375 [GRCh38]
Chr2:25457244 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.72+10G>C single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003011567] Chr2:25313903 [GRCh38]
Chr2:25536772 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1790G>A (p.Arg597Gln) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003089526] Chr2:25244216 [GRCh38]
Chr2:25467085 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.267C>T (p.Pro89=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003029878] Chr2:25282622 [GRCh38]
Chr2:25505491 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.428G>A (p.Arg143Gln) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002939030] Chr2:25282461 [GRCh38]
Chr2:25505330 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.993C>T (p.Phe331=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002597859] Chr2:25247612 [GRCh38]
Chr2:25470481 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1593C>T (p.Asp531=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002648017] Chr2:25244614 [GRCh38]
Chr2:25467483 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1004_1011del (p.Lys335fs) deletion Tatton-Brown-Rahman overgrowth syndrome [RCV002876950] Chr2:25247594..25247601 [GRCh38]
Chr2:25470463..25470470 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.50C>T (p.Ala17Val) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002598914] Chr2:25313935 [GRCh38]
Chr2:25536804 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.629G>A (p.Trp210Ter) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002898735] Chr2:25274951 [GRCh38]
Chr2:25497820 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1143G>A (p.Gly381=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002856439]|not provided [RCV003491155] Chr2:25246756 [GRCh38]
Chr2:25469625 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_022552.5(DNMT3A):c.2478+12C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003087555] Chr2:25236924 [GRCh38]
Chr2:25459793 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1545A>G (p.Gln515=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002988563] Chr2:25245262 [GRCh38]
Chr2:25468131 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2730G>A (p.Ala910=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003029789] Chr2:25234288 [GRCh38]
Chr2:25457157 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2323-16G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002653739] Chr2:25239231 [GRCh38]
Chr2:25462100 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.7G>A (p.Ala3Thr) single nucleotide variant DNMT3A-related condition [RCV003984337]|Tatton-Brown-Rahman overgrowth syndrome [RCV002633926] Chr2:25313978 [GRCh38]
Chr2:25536847 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.209C>T (p.Ala70Val) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003072568]|not provided [RCV003427560] Chr2:25282680 [GRCh38]
Chr2:25505549 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1110C>T (p.Tyr370=) single nucleotide variant DNMT3A-related condition [RCV003898841]|Tatton-Brown-Rahman overgrowth syndrome [RCV002603182]|not provided [RCV003883884] Chr2:25247063 [GRCh38]
Chr2:25469932 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2181T>C (p.Thr727=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003067000] Chr2:25240443 [GRCh38]
Chr2:25463312 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1165G>A (p.Asp389Asn) single nucleotide variant not provided [RCV003149174] Chr2:25246734 [GRCh38]
Chr2:25469603 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.248G>A (p.Gly83Asp) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002586123] Chr2:25282641 [GRCh38]
Chr2:25505510 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1587C>T (p.Asp529=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003069503] Chr2:25244620 [GRCh38]
Chr2:25467489 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2053G>A (p.Gly685Arg) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003071085] Chr2:25241591 [GRCh38]
Chr2:25464460 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2211C>G (p.Leu737=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002610894] Chr2:25240413 [GRCh38]
Chr2:25463282 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1015-3del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV002611768] Chr2:25247161 [GRCh38]
Chr2:25470030 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.1474+19A>C single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002681075] Chr2:25246001 [GRCh38]
Chr2:25468870 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1305G>A (p.Val435=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003070687] Chr2:25246284 [GRCh38]
Chr2:25469153 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1148T>C (p.Leu383Pro) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002612332] Chr2:25246751 [GRCh38]
Chr2:25469620 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1122+9C>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003073256] Chr2:25247042 [GRCh38]
Chr2:25469911 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.250G>A (p.Ala84Thr) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV002612626] Chr2:25282639 [GRCh38]
Chr2:25505508 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2051_2055del (p.Val684fs) deletion not provided [RCV003144801] Chr2:25241589..25241593 [GRCh38]
Chr2:25464458..25464462 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.1481G>C (p.Cys494Ser) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003227566] Chr2:25245326 [GRCh38]
Chr2:25468195 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1077CAA[1] (p.Asn360del) microsatellite not provided [RCV003146807] Chr2:25247091..25247093 [GRCh38]
Chr2:25469960..25469962 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.767C>T (p.Pro256Leu) single nucleotide variant not provided [RCV003225406] Chr2:25248125 [GRCh38]
Chr2:25470994 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1138G>A (p.Ala380Thr) single nucleotide variant DNMT3A-related condition [RCV003966278]|Tatton-Brown-Rahman overgrowth syndrome [RCV003746659]|not provided [RCV003146809] Chr2:25246761 [GRCh38]
Chr2:25469630 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2597+1G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003227565] Chr2:25235706 [GRCh38]
Chr2:25458575 [GRCh37]
Chr2:2p23.3		 pathogenic
GRCh37/hg19 2p23.3(chr2:24962301-26257604)x1 copy number loss not provided [RCV003223075] Chr2:24962301..26257604 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1627G>A (p.Gly543Ser) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003140539] Chr2:25244580 [GRCh38]
Chr2:25467449 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.334G>A (p.Gly112Ser) single nucleotide variant not provided [RCV003221512] Chr2:25282555 [GRCh38]
Chr2:25505424 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1426A>G (p.Arg476Gly) single nucleotide variant Inborn genetic diseases [RCV003221114] Chr2:25246163 [GRCh38]
Chr2:25469032 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2629G>A (p.Val877Ile) single nucleotide variant not provided [RCV003223014] Chr2:25234389 [GRCh38]
Chr2:25457258 [GRCh37]
Chr2:2p23.3		 likely pathogenic|uncertain significance
NM_022552.5(DNMT3A):c.203A>G (p.Asp68Gly) single nucleotide variant not provided [RCV003223015] Chr2:25282686 [GRCh38]
Chr2:25505555 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2716_2718dup (p.Lys906_Glu907insLys) duplication not provided [RCV003229141] Chr2:25234299..25234300 [GRCh38]
Chr2:25457168..25457169 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1353_1356dup (p.Pro453fs) duplication Tatton-Brown-Rahman overgrowth syndrome [RCV003226068] Chr2:25246232..25246233 [GRCh38]
Chr2:25469101..25469102 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.976C>T (p.Arg326Cys) single nucleotide variant not provided [RCV003225509] Chr2:25247629 [GRCh38]
Chr2:25470498 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.553A>G (p.Met185Val) single nucleotide variant not provided [RCV003146808] Chr2:25275027 [GRCh38]
Chr2:25497896 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1787G>T (p.Arg596Leu) single nucleotide variant not provided [RCV003319769] Chr2:25244219 [GRCh38]
Chr2:25467088 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.413C>A (p.Thr138Asn) single nucleotide variant not provided [RCV003321432] Chr2:25282476 [GRCh38]
Chr2:25505345 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1258A>T (p.Lys420Ter) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003320002] Chr2:25246641 [GRCh38]
Chr2:25469510 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1935A>G (p.Thr645=) single nucleotide variant not provided [RCV003325005] Chr2:25243899 [GRCh38]
Chr2:25466768 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2177G>T (p.Gly726Val) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003330172] Chr2:25240447 [GRCh38]
Chr2:25463316 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1916T>C (p.Leu639Pro) single nucleotide variant not provided [RCV003327022] Chr2:25243918 [GRCh38]
Chr2:25466787 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.1012_1014+3del deletion Heyn-Sproul-Jackson syndrome [RCV003330113] Chr2:25247588..25247593 [GRCh38]
Chr2:25470457..25470462 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.640-3760T>C single nucleotide variant DNMT3A-related condition [RCV003397688] Chr2:25252012 [GRCh38]
Chr2:25474881 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1661G>C (p.Cys554Ser) single nucleotide variant DNMT3A-related disorders [RCV003335961] Chr2:25244546 [GRCh38]
Chr2:25467415 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.322G>A (p.Gly108Arg) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746675]|not provided [RCV003332679] Chr2:25282567 [GRCh38]
Chr2:25505436 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2580G>A (p.Trp860Ter) single nucleotide variant Inborn genetic diseases [RCV003369319] Chr2:25235724 [GRCh38]
Chr2:25458593 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.2174-11C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003873134] Chr2:25240461 [GRCh38]
Chr2:25463330 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.640-3841T>A single nucleotide variant DNMT3A-related condition [RCV003429072] Chr2:25252093 [GRCh38]
Chr2:25474962 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.163C>T (p.Arg55Cys) single nucleotide variant not provided [RCV003443886] Chr2:25300153 [GRCh38]
Chr2:25523022 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.448+48C>A single nucleotide variant not specified [RCV003479808] Chr2:25282393 [GRCh38]
Chr2:25505262 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.164G>A (p.Arg55His) single nucleotide variant DNMT3A-related condition [RCV003399739]|Tatton-Brown-Rahman overgrowth syndrome [RCV003585389] Chr2:25300152 [GRCh38]
Chr2:25523021 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2114T>G (p.Ile705Ser) single nucleotide variant not provided [RCV003442350] Chr2:25240699 [GRCh38]
Chr2:25463568 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2390A>G (p.Asn797Ser) single nucleotide variant Neurodevelopmental disorder [RCV003389182] Chr2:25239148 [GRCh38]
Chr2:25462017 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1152C>T (p.Phe384=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003585393]|not provided [RCV003425531] Chr2:25246747 [GRCh38]
Chr2:25469616 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2626G>A (p.Asp876Asn) single nucleotide variant DNMT3A-related condition [RCV003404572] Chr2:25234392 [GRCh38]
Chr2:25457261 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.71A>C (p.Lys24Thr) single nucleotide variant DNMT3A-related condition [RCV003404624] Chr2:25313914 [GRCh38]
Chr2:25536783 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.640-3749G>A single nucleotide variant DNMT3A-related condition [RCV003399589] Chr2:25252001 [GRCh38]
Chr2:25474870 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.481A>G (p.Met161Val) single nucleotide variant DNMT3A-related condition [RCV003411973] Chr2:25275511 [GRCh38]
Chr2:25498380 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1273C>G (p.Pro425Ala) single nucleotide variant not provided [RCV003407174] Chr2:25246626 [GRCh38]
Chr2:25469495 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.640-3791G>A single nucleotide variant not provided [RCV003407175] Chr2:25252043 [GRCh38]
Chr2:25474912 [GRCh37]
Chr2:2p23.3		 benign
NM_022552.5(DNMT3A):c.95C>T (p.Pro32Leu) single nucleotide variant not provided [RCV003407176] Chr2:25300221 [GRCh38]
Chr2:25523090 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.640-3659G>A single nucleotide variant DNMT3A-related condition [RCV003408466] Chr2:25251911 [GRCh38]
Chr2:25474780 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.640-1408T>A single nucleotide variant DNMT3A-related condition [RCV003412340] Chr2:25249660 [GRCh38]
Chr2:25472529 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1385C>A (p.Ala462Glu) single nucleotide variant not provided [RCV003425530] Chr2:25246204 [GRCh38]
Chr2:25469073 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.448+40C>A single nucleotide variant not provided [RCV003415519] Chr2:25282401 [GRCh38]
Chr2:25505270 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.448+8C>G single nucleotide variant not provided [RCV003415520] Chr2:25282433 [GRCh38]
Chr2:25505302 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1803G>A (p.Trp601Ter) single nucleotide variant DNMT3A-related condition [RCV003410447] Chr2:25244203 [GRCh38]
Chr2:25467072 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.640-3676C>G single nucleotide variant DNMT3A-related condition [RCV003938972]|not provided [RCV003425532] Chr2:25251928 [GRCh38]
Chr2:25474797 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_022552.5(DNMT3A):c.102C>T (p.Gly34=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003458183] Chr2:25300214 [GRCh38]
Chr2:25523083 [GRCh37]
Chr2:2p23.3		 not provided
NM_022552.5(DNMT3A):c.2516C>T (p.Ser839Phe) single nucleotide variant DNMT3A-related condition [RCV003404236] Chr2:25235788 [GRCh38]
Chr2:25458657 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2190CTT[1] (p.Phe732del) microsatellite DNMT3A-related condition [RCV003414084]|Tatton-Brown-Rahman overgrowth syndrome [RCV003585390] Chr2:25240429..25240431 [GRCh38]
Chr2:25463298..25463300 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.353G>C (p.Gly118Ala) single nucleotide variant DNMT3A-related condition [RCV003414129]|Tatton-Brown-Rahman overgrowth syndrome [RCV003746678] Chr2:25282536 [GRCh38]
Chr2:25505405 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1469T>C (p.Ile490Thr) single nucleotide variant DNMT3A-related condition [RCV003393079] Chr2:25246025 [GRCh38]
Chr2:25468894 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1937-18_1937-17delinsTC indel Tatton-Brown-Rahman overgrowth syndrome [RCV003827423] Chr2:25241724..25241725 [GRCh38]
Chr2:25464593..25464594 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.162G>A (p.Lys54=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003879039] Chr2:25300154 [GRCh38]
Chr2:25523023 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1596C>A (p.Gly532=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003878085] Chr2:25244611 [GRCh38]
Chr2:25467480 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.468C>T (p.Thr156=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003834439] Chr2:25275524 [GRCh38]
Chr2:25498393 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1716C>G (p.Ala572=) single nucleotide variant DNMT3A-related condition [RCV003901172]|Tatton-Brown-Rahman overgrowth syndrome [RCV003584058] Chr2:25244290 [GRCh38]
Chr2:25467159 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2323-17C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584145] Chr2:25239232 [GRCh38]
Chr2:25462101 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.96G>A (p.Pro32=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584159] Chr2:25300220 [GRCh38]
Chr2:25523089 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2204A>C (p.Tyr735Ser) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584092] Chr2:25240420 [GRCh38]
Chr2:25463289 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1555-37_1555-18del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV003584360] Chr2:25244670..25244689 [GRCh38]
Chr2:25467539..25467558 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1151del (p.Phe384fs) deletion Tatton-Brown-Rahman overgrowth syndrome [RCV003584227] Chr2:25246748 [GRCh38]
Chr2:25469617 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.867_870del (p.Phe290fs) deletion Tatton-Brown-Rahman overgrowth syndrome [RCV003584327] Chr2:25247735..25247738 [GRCh38]
Chr2:25470604..25470607 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.2707G>C (p.Ala903Pro) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584339] Chr2:25234311 [GRCh38]
Chr2:25457180 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1395C>T (p.Pro465=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584149] Chr2:25246194 [GRCh38]
Chr2:25469063 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2446C>G (p.Gln816Glu) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584359] Chr2:25236968 [GRCh38]
Chr2:25459837 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1006T>C (p.Phe336Leu) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003585491] Chr2:25247599 [GRCh38]
Chr2:25470468 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.177+10A>G single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003852225] Chr2:25300129 [GRCh38]
Chr2:25522998 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1280A>G (p.Glu427Gly) single nucleotide variant DNMT3A-related condition [RCV003980975]|Tatton-Brown-Rahman overgrowth syndrome [RCV003585505] Chr2:25246309 [GRCh38]
Chr2:25469178 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1667+16C>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003585519] Chr2:25244524 [GRCh38]
Chr2:25467393 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1289A>G (p.Asn430Ser) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584212] Chr2:25246300 [GRCh38]
Chr2:25469169 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2416G>A (p.Ala806Thr) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584320] Chr2:25236998 [GRCh38]
Chr2:25459867 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1667+1G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584060] Chr2:25244539 [GRCh38]
Chr2:25467408 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.1757G>A (p.Cys586Tyr) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003585432] Chr2:25244249 [GRCh38]
Chr2:25467118 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.112C>T (p.Arg38Cys) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584095] Chr2:25300204 [GRCh38]
Chr2:25523073 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.371C>T (p.Thr124Ile) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584115] Chr2:25282518 [GRCh38]
Chr2:25505387 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.856-14C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584128] Chr2:25247763 [GRCh38]
Chr2:25470632 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1521C>T (p.Pro507=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584163] Chr2:25245286 [GRCh38]
Chr2:25468155 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2474C>T (p.Ala825Val) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584176] Chr2:25236940 [GRCh38]
Chr2:25459809 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.457C>T (p.Gln153Ter) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584278] Chr2:25275535 [GRCh38]
Chr2:25498404 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.493-14T>G single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003585478] Chr2:25275101 [GRCh38]
Chr2:25497970 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.336C>T (p.Gly112=) single nucleotide variant DNMT3A-related condition [RCV003929210]|Tatton-Brown-Rahman overgrowth syndrome [RCV003585504] Chr2:25282553 [GRCh38]
Chr2:25505422 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.801C>G (p.Ser267=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003585507] Chr2:25248091 [GRCh38]
Chr2:25470960 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2323-19dup duplication Tatton-Brown-Rahman overgrowth syndrome [RCV003585511] Chr2:25239233..25239234 [GRCh38]
Chr2:25462102..25462103 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2174-10G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584158] Chr2:25240460 [GRCh38]
Chr2:25463329 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.73-8G>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003585516] Chr2:25300251 [GRCh38]
Chr2:25523120 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1778G>A (p.Gly593Glu) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584251] Chr2:25244228 [GRCh38]
Chr2:25467097 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1667+3G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584243] Chr2:25244537 [GRCh38]
Chr2:25467406 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1554+12C>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003585535] Chr2:25245241 [GRCh38]
Chr2:25468110 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.120G>T (p.Glu40Asp) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003585552] Chr2:25300196 [GRCh38]
Chr2:25523065 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1792dup (p.Arg598fs) duplication Tatton-Brown-Rahman overgrowth syndrome [RCV003585556] Chr2:25244213..25244214 [GRCh38]
Chr2:25467082..25467083 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.2703C>G (p.Leu901=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584264] Chr2:25234315 [GRCh38]
Chr2:25457184 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1430-14T>C single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003585566] Chr2:25246078 [GRCh38]
Chr2:25468947 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.639+7C>T single nucleotide variant DNMT3A-related condition [RCV003966484]|Tatton-Brown-Rahman overgrowth syndrome [RCV003585577] Chr2:25274934 [GRCh38]
Chr2:25497803 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.706T>C (p.Ser236Pro) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003585582] Chr2:25248186 [GRCh38]
Chr2:25471055 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.364G>A (p.Ala122Thr) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003585596] Chr2:25282525 [GRCh38]
Chr2:25505394 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2037G>C (p.Gly679=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003585621] Chr2:25241607 [GRCh38]
Chr2:25464476 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1015-9T>C single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003585622] Chr2:25247167 [GRCh38]
Chr2:25470036 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1123-15C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003585430] Chr2:25246791 [GRCh38]
Chr2:25469660 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1852-5C>T single nucleotide variant DNMT3A-related condition [RCV003919286]|Tatton-Brown-Rahman overgrowth syndrome [RCV003584036] Chr2:25243987 [GRCh38]
Chr2:25466856 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.474C>T (p.Ile158=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003584051] Chr2:25275518 [GRCh38]
Chr2:25498387 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.228A>G (p.Pro76=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003838976] Chr2:25282661 [GRCh38]
Chr2:25505530 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.806C>G (p.Ala269Gly) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003833980] Chr2:25248086 [GRCh38]
Chr2:25470955 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2695C>T (p.Arg899Cys) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003824427] Chr2:25234323 [GRCh38]
Chr2:25457192 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.373C>G (p.Leu125Val) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746712] Chr2:25282516 [GRCh38]
Chr2:25505385 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2259G>A (p.Trp753Ter) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746731] Chr2:25240365 [GRCh38]
Chr2:25463234 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1860A>G (p.Pro620=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003870709] Chr2:25243974 [GRCh38]
Chr2:25466843 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.662T>C (p.Ile221Thr) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746852] Chr2:25248230 [GRCh38]
Chr2:25471099 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.147G>T (p.Gly49=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746975] Chr2:25300169 [GRCh38]
Chr2:25523038 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.174C>T (p.Pro58=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746202] Chr2:25300142 [GRCh38]
Chr2:25523011 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1851+19G>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003866846] Chr2:25244136 [GRCh38]
Chr2:25467005 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1245G>A (p.Gln415=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746228] Chr2:25246654 [GRCh38]
Chr2:25469523 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.699C>T (p.Pro233=) single nucleotide variant DNMT3A-related condition [RCV003901287]|Tatton-Brown-Rahman overgrowth syndrome [RCV003746290] Chr2:25248193 [GRCh38]
Chr2:25471062 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1137C>T (p.Arg379=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003818274] Chr2:25246762 [GRCh38]
Chr2:25469631 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1383A>G (p.Thr461=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746393] Chr2:25246206 [GRCh38]
Chr2:25469075 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2310G>A (p.Ser770=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746412] Chr2:25240314 [GRCh38]
Chr2:25463183 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1122+15T>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746467] Chr2:25247036 [GRCh38]
Chr2:25469905 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1317G>A (p.Met439Ile) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003863934] Chr2:25246272 [GRCh38]
Chr2:25469141 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.27del (p.Asp11fs) deletion Tatton-Brown-Rahman overgrowth syndrome [RCV003746821] Chr2:25313958 [GRCh38]
Chr2:25536827 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.733C>A (p.Pro245Thr) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747239] Chr2:25248159 [GRCh38]
Chr2:25471028 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.249C>T (p.Gly83=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747243] Chr2:25282640 [GRCh38]
Chr2:25505509 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.324G>A (p.Gly108=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003842589] Chr2:25282565 [GRCh38]
Chr2:25505434 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2438T>C (p.Leu813Pro) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747398] Chr2:25236976 [GRCh38]
Chr2:25459845 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.97C>T (p.Arg33Cys) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747455] Chr2:25300219 [GRCh38]
Chr2:25523088 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2083-19G>C single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747467] Chr2:25240749 [GRCh38]
Chr2:25463618 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1584C>T (p.Tyr528=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747468] Chr2:25244623 [GRCh38]
Chr2:25467492 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1475-19C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747484] Chr2:25245351 [GRCh38]
Chr2:25468220 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1854C>T (p.Asp618=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747486] Chr2:25243980 [GRCh38]
Chr2:25466849 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2622T>C (p.Tyr874=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747643] Chr2:25234396 [GRCh38]
Chr2:25457265 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1627G>C (p.Gly543Arg) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003985952] Chr2:25244580 [GRCh38]
Chr2:25467449 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.158G>A (p.Arg53Lys) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746011] Chr2:25300158 [GRCh38]
Chr2:25523027 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.625C>T (p.Arg209Cys) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746013] Chr2:25274955 [GRCh38]
Chr2:25497824 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.721G>A (p.Glu241Lys) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746034] Chr2:25248171 [GRCh38]
Chr2:25471040 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.2738A>G (p.Ter913=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747641] Chr2:25234280 [GRCh38]
Chr2:25457149 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2609del (p.Phe870fs) deletion Tatton-Brown-Rahman overgrowth syndrome [RCV003746055] Chr2:25234409 [GRCh38]
Chr2:25457278 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1000G>A (p.Gly334Ser) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003872341] Chr2:25247605 [GRCh38]
Chr2:25470474 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.582C>T (p.Asp194=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746369] Chr2:25274998 [GRCh38]
Chr2:25497867 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.855+6C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746376] Chr2:25248031 [GRCh38]
Chr2:25470900 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.493-15G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746436] Chr2:25275102 [GRCh38]
Chr2:25497971 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.475G>A (p.Glu159Lys) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746437] Chr2:25275517 [GRCh38]
Chr2:25498386 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1311G>A (p.Thr437=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003867034] Chr2:25246278 [GRCh38]
Chr2:25469147 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1154C>T (p.Pro385Leu) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746445] Chr2:25246745 [GRCh38]
Chr2:25469614 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1123-12G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746326] Chr2:25246788 [GRCh38]
Chr2:25469657 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.21C>T (p.Ser7=) single nucleotide variant DNMT3A-related condition [RCV003956454]|Tatton-Brown-Rahman overgrowth syndrome [RCV003746892] Chr2:25313964 [GRCh38]
Chr2:25536833 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.640-10G>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746905] Chr2:25248262 [GRCh38]
Chr2:25471131 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.296C>T (p.Pro99Leu) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746922] Chr2:25282593 [GRCh38]
Chr2:25505462 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.445G>A (p.Ala149Thr) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003871021] Chr2:25282444 [GRCh38]
Chr2:25505313 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.640-5C>T single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746990] Chr2:25248257 [GRCh38]
Chr2:25471126 [GRCh37]
Chr2:2p23.3		 likely benign
GRCh37/hg19 2p23.3(chr2:25437125-25487783)x1 copy number loss not specified [RCV003986363] Chr2:25437125..25487783 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1532dup (p.Gly512fs) duplication Tatton-Brown-Rahman overgrowth syndrome [RCV003747155] Chr2:25245274..25245275 [GRCh38]
Chr2:25468143..25468144 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.300G>A (p.Gln100=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747187] Chr2:25282589 [GRCh38]
Chr2:25505458 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.367G>C (p.Glu123Gln) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747506] Chr2:25282522 [GRCh38]
Chr2:25505391 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1632T>G (p.Arg544=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747514] Chr2:25244575 [GRCh38]
Chr2:25467444 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1523T>C (p.Leu508Pro) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747530] Chr2:25245284 [GRCh38]
Chr2:25468153 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_022552.5(DNMT3A):c.186C>T (p.Ser62=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747534] Chr2:25282703 [GRCh38]
Chr2:25505572 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2196dup (p.Glu733Ter) duplication Tatton-Brown-Rahman overgrowth syndrome [RCV003747559] Chr2:25240427..25240428 [GRCh38]
Chr2:25463296..25463297 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.834C>T (p.Gly278=) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747588] Chr2:25248058 [GRCh38]
Chr2:25470927 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1766A>G (p.Lys589Arg) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747596] Chr2:25244240 [GRCh38]
Chr2:25467109 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.13C>T (p.Pro5Ser) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747657] Chr2:25313972 [GRCh38]
Chr2:25536841 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.856-7G>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747313] Chr2:25247756 [GRCh38]
Chr2:25470625 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1015-8C>A single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747320] Chr2:25247166 [GRCh38]
Chr2:25470035 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.482T>A (p.Met161Lys) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747357] Chr2:25275510 [GRCh38]
Chr2:25498379 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.194C>T (p.Thr65Met) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003747415] Chr2:25282695 [GRCh38]
Chr2:25505564 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1934C>T (p.Thr645Ile) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746155] Chr2:25243900 [GRCh38]
Chr2:25466769 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.999C>T (p.Asp333=) single nucleotide variant DNMT3A-related condition [RCV003909092]|Tatton-Brown-Rahman overgrowth syndrome [RCV003746253] Chr2:25247606 [GRCh38]
Chr2:25470475 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.89A>G (p.Glu30Gly) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746254] Chr2:25300227 [GRCh38]
Chr2:25523096 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1810C>T (p.Arg604Trp) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746283] Chr2:25244196 [GRCh38]
Chr2:25467065 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.1123-9A>G single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746301] Chr2:25246785 [GRCh38]
Chr2:25469654 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.838G>A (p.Asp280Asn) single nucleotide variant Tatton-Brown-Rahman overgrowth syndrome [RCV003746303] Chr2:25248054 [GRCh38]
Chr2:25470923 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.640-3830C>G single nucleotide variant DNMT3A-related condition [RCV003976668] Chr2:25252082 [GRCh38]
Chr2:25474951 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.178-9C>T single nucleotide variant DNMT3A-related condition [RCV003899850] Chr2:25282720 [GRCh38]
Chr2:25505589 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2103C>T (p.Phe701=) single nucleotide variant DNMT3A-related condition [RCV003914076] Chr2:25240710 [GRCh38]
Chr2:25463579 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.-4C>T single nucleotide variant DNMT3A-related condition [RCV003974455] Chr2:25313988 [GRCh38]
Chr2:25536857 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.640-1438C>T single nucleotide variant DNMT3A-related condition [RCV003893907] Chr2:25249690 [GRCh38]
Chr2:25472559 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1015-4C>G single nucleotide variant DNMT3A-related condition [RCV003894438] Chr2:25247162 [GRCh38]
Chr2:25470031 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.948G>C (p.Thr316=) single nucleotide variant DNMT3A-related condition [RCV003972299] Chr2:25247657 [GRCh38]
Chr2:25470526 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1014+7T>C single nucleotide variant DNMT3A-related condition [RCV003896352] Chr2:25247584 [GRCh38]
Chr2:25470453 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2479-10C>T single nucleotide variant DNMT3A-related condition [RCV003904702] Chr2:25235835 [GRCh38]
Chr2:25458704 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2173+9C>T single nucleotide variant DNMT3A-related condition [RCV003981696] Chr2:25240631 [GRCh38]
Chr2:25463500 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.640-1471G>A single nucleotide variant DNMT3A-related condition [RCV003964622] Chr2:25249723 [GRCh38]
Chr2:25472592 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1936+8G>A single nucleotide variant DNMT3A-related condition [RCV003976774] Chr2:25243890 [GRCh38]
Chr2:25466759 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2174-4_2174-3del microsatellite DNMT3A-related condition [RCV003899449] Chr2:25240453..25240454 [GRCh38]
Chr2:25463322..25463323 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.640-3717G>A single nucleotide variant DNMT3A-related condition [RCV003921505] Chr2:25251969 [GRCh38]
Chr2:25474838 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1058C>T (p.Ala353Val) single nucleotide variant not provided [RCV003884035] Chr2:25247115 [GRCh38]
Chr2:25469984 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.249C>A (p.Gly83=) single nucleotide variant DNMT3A-related condition [RCV003944193] Chr2:25282640 [GRCh38]
Chr2:25505509 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.640-3764C>A single nucleotide variant DNMT3A-related condition [RCV003983739] Chr2:25252016 [GRCh38]
Chr2:25474885 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.66C>T (p.Asp22=) single nucleotide variant DNMT3A-related condition [RCV003967138] Chr2:25313919 [GRCh38]
Chr2:25536788 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1041G>A (p.Leu347=) single nucleotide variant DNMT3A-related condition [RCV003933941] Chr2:25247132 [GRCh38]
Chr2:25470001 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2479-7C>A single nucleotide variant DNMT3A-related condition [RCV003897178] Chr2:25235832 [GRCh38]
Chr2:25458701 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2625T>C (p.Thr875=) single nucleotide variant DNMT3A-related condition [RCV003897233] Chr2:25234393 [GRCh38]
Chr2:25457262 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.2479-6A>G single nucleotide variant DNMT3A-related condition [RCV003976588] Chr2:25235831 [GRCh38]
Chr2:25458700 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1590C>T (p.Asp530=) single nucleotide variant DNMT3A-related condition [RCV003894344] Chr2:25244617 [GRCh38]
Chr2:25467486 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1802G>A (p.Trp601Ter) single nucleotide variant not provided [RCV003884271] Chr2:25244204 [GRCh38]
Chr2:25467073 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.-9G>A single nucleotide variant DNMT3A-related condition [RCV003901615] Chr2:25313993 [GRCh38]
Chr2:25536862 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.-7C>T single nucleotide variant DNMT3A-related condition [RCV003969429] Chr2:25313991 [GRCh38]
Chr2:25536860 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1044del (p.Ser349fs) deletion not provided [RCV003887188] Chr2:25247129 [GRCh38]
Chr2:25469998 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_022552.5(DNMT3A):c.1936+3G>A single nucleotide variant DNMT3A-related condition [RCV003899687] Chr2:25243895 [GRCh38]
Chr2:25466764 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.795G>T (p.Val265=) single nucleotide variant DNMT3A-related condition [RCV003907045] Chr2:25248097 [GRCh38]
Chr2:25470966 [GRCh37]
Chr2:2p23.3		 likely benign
NM_022552.5(DNMT3A):c.1448T>C (p.Val483Ala) single nucleotide variant DNMT3A-related condition [RCV003921615] Chr2:25246046 [GRCh38]
Chr2:25468915 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_022552.5(DNMT3A):c.429A>T (p.Arg143=) single nucleotide variant DNMT3A-related condition [RCV003976824] Chr2:25282460 [GRCh38]
Chr2:25505329 [GRCh37]
Chr2:2p23.3		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR101-2hsa-miR-101-3pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//qFunctional MTI23124077
MIR29B1hsa-miR-29b-3pMirtarbaseexternal_infoImmunohistochemistry//Microarray//Western blotFunctional MTI20643754
MIR29B1hsa-miR-29b-3pOncomiRDBexternal_infoNANA23100393
MIR29B1hsa-miR-29b-3pOncomiRDBexternal_infoNANA19211935
MIR29B1hsa-miR-29b-3pOncomiRDBexternal_infoNANA17890317
MIR29Ahsa-miR-29a-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blot//qRT-PCR//Functional MTI17890317
MIR29Ahsa-miR-29a-3pMirtarbaseexternal_infoImmunohistochemistry//Microarray//Western blotFunctional MTI20643754
MIR29Chsa-miR-29c-3pMirtarbaseexternal_infoImmunohistochemistry//Microarray//Western blotFunctional MTI20643754
MIR29Chsa-miR-29c-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI23516428
MIR29Ahsa-miR-29a-3pMirecordsexternal_info{changed}{changed}NA17890317
MIR29Chsa-miR-29c-3pMirecordsexternal_info{changed}{changed}NA17890317
MIR29Chsa-miR-29c-3pOncomiRDBexternal_infoNANA17890317
MIR29Ahsa-miR-29a-3pOncomiRDBexternal_infoNANA17890317
MIR143hsa-miR-143-3pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI19638978
MIR143hsa-miR-143-3pOncomiRDBexternal_infoNANA19638978
MIR101-1hsa-miR-101-3pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//qFunctional MTI23124077
MIR29B2hsa-miR-29b-3pMirtarbaseexternal_infoImmunohistochemistry//Microarray//Western blotFunctional MTI20643754
MIR29B2hsa-miR-29b-3pOncomiRDBexternal_infoNANA23100393
MIR29B2hsa-miR-29b-3pOncomiRDBexternal_infoNANA19211935
MIR29B2hsa-miR-29b-3pOncomiRDBexternal_infoNANA17890317

Predicted Target Of
Summary Value
Count of predictions:5653
Count of miRNA genes:1228
Interacting mature miRNAs:1572
Transcripts:ENST00000264709, ENST00000321117, ENST00000380746, ENST00000380756, ENST00000402667, ENST00000406659, ENST00000461228, ENST00000466601, ENST00000470983, ENST00000474807, ENST00000474887, ENST00000482935, ENST00000484184, ENST00000491288, ENST00000496570
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D2S144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,500,833 - 25,501,006UniSTSGRCh37
Build 36225,354,337 - 25,354,510RGDNCBI36
Celera225,341,131 - 25,341,311RGD
Cytogenetic Map2p23UniSTS
HuRef225,238,465 - 25,238,644UniSTS
Marshfield Genetic Map245.3RGD
Marshfield Genetic Map245.3UniSTS
Genethon Genetic Map248.5UniSTS
Whitehead-YAC Contig Map2 UniSTS
D2S2703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,455,861 - 25,456,115UniSTSGRCh37
Build 36225,309,365 - 25,309,619RGDNCBI36
Celera225,296,160 - 25,296,414RGD
Cytogenetic Map2p23UniSTS
HuRef225,193,764 - 25,194,018UniSTS
GeneMap99-GB4 RH Map297.79UniSTS
Whitehead-RH Map2149.4UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map2134.8UniSTS
D2S1959E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,542,535 - 25,542,618UniSTSGRCh37
Build 36225,396,039 - 25,396,122RGDNCBI36
Celera225,382,797 - 25,382,880RGD
Cytogenetic Map2p23UniSTS
HuRef225,280,410 - 25,280,493UniSTS
D2S2119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,455,868 - 25,455,959UniSTSGRCh37
Build 36225,309,372 - 25,309,463RGDNCBI36
Celera225,296,167 - 25,296,258RGD
Cytogenetic Map2p23UniSTS
HuRef225,193,771 - 25,193,862UniSTS
RH45375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,466,754 - 25,466,947UniSTSGRCh37
Build 36225,320,258 - 25,320,451RGDNCBI36
Celera225,307,053 - 25,307,246RGD
Cytogenetic Map2p23UniSTS
HuRef225,204,656 - 25,204,849UniSTS
GeneMap99-GB4 RH Map290.32UniSTS
A007B06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,456,013 - 25,456,143UniSTSGRCh37
Build 36225,309,517 - 25,309,647RGDNCBI36
Celera225,296,312 - 25,296,442RGD
Cytogenetic Map2p23UniSTS
HuRef225,193,916 - 25,194,046UniSTS
GeneMap99-GB4 RH Map289.92UniSTS
MARC_26721-26722:1034781098:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,463,542 - 25,464,474UniSTSGRCh37
Build 36225,317,046 - 25,317,978RGDNCBI36
Celera225,303,841 - 25,304,773RGD
HuRef225,201,444 - 25,202,376UniSTS
RH130466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,457,140 - 25,458,641UniSTSGRCh37
Celera225,297,439 - 25,298,940UniSTS
HuRef225,195,042 - 25,196,543UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 801 125 780 72 822 71 473 325 1119 89 691 716 7 19 197 3
Low 1631 2850 941 549 1112 392 3883 1866 2593 329 761 894 165 1 1185 2591 2
Below cutoff 3 9 3 1 14 2 4 9 1 5 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_175629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_175630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB076659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF067972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF331856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF480163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF503864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI376254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL543971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM470515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB852889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W76111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264709   ⟹   ENSP00000264709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,227,855 - 25,342,590 (-)Ensembl
RefSeq Acc Id: ENST00000321117   ⟹   ENSP00000324375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,227,874 - 25,341,925 (-)Ensembl
RefSeq Acc Id: ENST00000380746   ⟹   ENSP00000370122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,232,976 - 25,252,311 (-)Ensembl
RefSeq Acc Id: ENST00000380756   ⟹   ENSP00000370132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,232,977 - 25,342,489 (-)Ensembl
RefSeq Acc Id: ENST00000402667   ⟹   ENSP00000384237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,234,197 - 25,252,311 (-)Ensembl
RefSeq Acc Id: ENST00000406659   ⟹   ENSP00000384852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,281,452 - 25,342,590 (-)Ensembl
RefSeq Acc Id: ENST00000461228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,239,176 - 25,243,982 (-)Ensembl
RefSeq Acc Id: ENST00000466601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,236,974 - 25,242,015 (-)Ensembl
RefSeq Acc Id: ENST00000470983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,246,757 - 25,249,703 (-)Ensembl
RefSeq Acc Id: ENST00000474807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,245,262 - 25,247,899 (-)Ensembl
RefSeq Acc Id: ENST00000474887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,234,279 - 25,244,324 (-)Ensembl
RefSeq Acc Id: ENST00000482935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,235,785 - 25,243,979 (-)Ensembl
RefSeq Acc Id: ENST00000484184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,246,674 - 25,247,566 (-)Ensembl
RefSeq Acc Id: ENST00000491288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,236,930 - 25,243,970 (-)Ensembl
RefSeq Acc Id: ENST00000496570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,247,050 - 25,252,083 (-)Ensembl
RefSeq Acc Id: ENST00000682842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,273,307 - 25,275,520 (-)Ensembl
RefSeq Acc Id: ENST00000683393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,233,015 - 25,247,710 (-)Ensembl
RefSeq Acc Id: ENST00000683760   ⟹   ENSP00000507765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,233,015 - 25,252,132 (-)Ensembl
RefSeq Acc Id: NM_001320892   ⟹   NP_001307821
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,281,452 - 25,341,925 (-)NCBI
CHM1_1225,434,240 - 25,494,688 (-)NCBI
T2T-CHM13v2.0225,316,814 - 25,377,263 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320893   ⟹   NP_001307822
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,232,961 - 25,252,131 (-)NCBI
CHM1_1225,385,740 - 25,404,908 (-)NCBI
T2T-CHM13v2.0225,268,309 - 25,287,477 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001375819   ⟹   NP_001362748
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,232,976 - 25,252,263 (-)NCBI
T2T-CHM13v2.0225,268,324 - 25,287,609 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022552   ⟹   NP_072046
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,227,874 - 25,341,925 (-)NCBI
GRCh37225,451,421 - 25,565,459 (-)NCBI
Build 36225,309,349 - 25,418,278 (-)NCBI Archive
HuRef225,193,733 - 25,302,862 (-)NCBI
CHM1_1225,385,740 - 25,494,688 (-)NCBI
T2T-CHM13v2.0225,263,222 - 25,377,263 (-)NCBI
Sequence:
RefSeq Acc Id: NM_153759   ⟹   NP_715640
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,232,961 - 25,252,315 (-)NCBI
GRCh37225,451,421 - 25,565,459 (-)NCBI
Build 36225,309,349 - 25,328,684 (-)NCBI Archive
HuRef225,193,733 - 25,302,862 (-)NCBI
CHM1_1225,385,740 - 25,405,092 (-)NCBI
T2T-CHM13v2.0225,268,309 - 25,287,661 (-)NCBI
Sequence:
RefSeq Acc Id: NM_175629   ⟹   NP_783328
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,232,961 - 25,342,590 (-)NCBI
GRCh37225,451,421 - 25,565,459 (-)NCBI
Build 36225,309,349 - 25,418,963 (-)NCBI Archive
HuRef225,193,733 - 25,302,862 (-)NCBI
CHM1_1225,385,740 - 25,495,369 (-)NCBI
T2T-CHM13v2.0225,268,309 - 25,377,928 (-)NCBI
Sequence:
RefSeq Acc Id: NM_175630   ⟹   NP_783329
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,281,452 - 25,342,590 (-)NCBI
GRCh37225,451,421 - 25,565,459 (-)NCBI
Build 36225,357,825 - 25,418,963 (-)NCBI Archive
HuRef225,193,733 - 25,302,862 (-)NCBI
CHM1_1225,434,240 - 25,495,369 (-)NCBI
T2T-CHM13v2.0225,316,814 - 25,377,928 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135490
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,227,874 - 25,342,483 (-)NCBI
CHM1_1225,385,740 - 25,495,369 (-)NCBI
T2T-CHM13v2.0225,263,222 - 25,377,821 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005264175   ⟹   XP_005264232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,227,874 - 25,316,596 (-)NCBI
GRCh37225,451,421 - 25,565,459 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532662   ⟹   XP_011530964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,227,874 - 25,292,195 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532664   ⟹   XP_011530966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,239,227 - 25,341,925 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532666   ⟹   XP_011530968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,227,874 - 25,252,315 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532667   ⟹   XP_011530969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,227,874 - 25,259,614 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003526   ⟹   XP_016859015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,227,874 - 25,314,488 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003527   ⟹   XP_016859016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,227,874 - 25,256,050 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047443592   ⟹   XP_047299548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,227,874 - 25,282,588 (-)NCBI
RefSeq Acc Id: XM_047443593   ⟹   XP_047299549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,235,712 - 25,341,925 (-)NCBI
RefSeq Acc Id: XM_047443594   ⟹   XP_047299550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,227,874 - 25,277,392 (-)NCBI
RefSeq Acc Id: XM_047443596   ⟹   XP_047299552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,227,874 - 25,252,131 (-)NCBI
RefSeq Acc Id: XM_047443597   ⟹   XP_047299553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,227,874 - 25,252,131 (-)NCBI
RefSeq Acc Id: XM_047443598   ⟹   XP_047299554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,227,874 - 25,253,198 (-)NCBI
RefSeq Acc Id: XM_047443599   ⟹   XP_047299555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,239,227 - 25,252,315 (-)NCBI
RefSeq Acc Id: XM_054340900   ⟹   XP_054196875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0225,263,222 - 25,349,830 (-)NCBI
RefSeq Acc Id: XM_054340901   ⟹   XP_054196876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0225,263,222 - 25,351,938 (-)NCBI
RefSeq Acc Id: XM_054340902   ⟹   XP_054196877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0225,263,222 - 25,327,557 (-)NCBI
RefSeq Acc Id: XM_054340903   ⟹   XP_054196878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0225,263,222 - 25,317,950 (-)NCBI
RefSeq Acc Id: XM_054340904   ⟹   XP_054196879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0225,271,059 - 25,377,263 (-)NCBI
RefSeq Acc Id: XM_054340905   ⟹   XP_054196880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0225,274,574 - 25,377,263 (-)NCBI
RefSeq Acc Id: XM_054340906   ⟹   XP_054196881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0225,263,222 - 25,286,892 (-)NCBI
RefSeq Acc Id: XM_054340907   ⟹   XP_054196882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0225,263,222 - 25,286,911 (-)NCBI
RefSeq Acc Id: XM_054340908   ⟹   XP_054196883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0225,263,222 - 25,287,661 (-)NCBI
RefSeq Acc Id: XM_054340909   ⟹   XP_054196884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0225,263,222 - 25,312,744 (-)NCBI
RefSeq Acc Id: XM_054340910   ⟹   XP_054196885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0225,263,222 - 25,294,960 (-)NCBI
RefSeq Acc Id: XM_054340911   ⟹   XP_054196886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0225,263,222 - 25,287,477 (-)NCBI
RefSeq Acc Id: XM_054340912   ⟹   XP_054196887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0225,263,222 - 25,287,477 (-)NCBI
RefSeq Acc Id: XM_054340913   ⟹   XP_054196888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0225,263,222 - 25,291,396 (-)NCBI
RefSeq Acc Id: XM_054340914   ⟹   XP_054196889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0225,274,574 - 25,287,661 (-)NCBI
RefSeq Acc Id: XM_054340915   ⟹   XP_054196890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0225,274,571 - 25,349,398 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001307821 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307822 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362748 (Get FASTA)   NCBI Sequence Viewer  
  NP_072046 (Get FASTA)   NCBI Sequence Viewer  
  NP_715640 (Get FASTA)   NCBI Sequence Viewer  
  NP_783328 (Get FASTA)   NCBI Sequence Viewer  
  NP_783329 (Get FASTA)   NCBI Sequence Viewer  
  XP_005264232 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530964 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530966 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530968 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530969 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859015 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859016 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299548 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299549 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299550 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299552 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299553 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299554 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299555 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196875 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196876 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196877 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196878 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196879 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196880 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196881 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196882 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196883 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196884 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196885 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196886 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196887 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196888 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196889 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196890 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD33084 (Get FASTA)   NCBI Sequence Viewer  
  AAH18214 (Get FASTA)   NCBI Sequence Viewer  
  AAH23612 (Get FASTA)   NCBI Sequence Viewer  
  AAH32392 (Get FASTA)   NCBI Sequence Viewer  
  AAH43617 (Get FASTA)   NCBI Sequence Viewer  
  AAH51864 (Get FASTA)   NCBI Sequence Viewer  
  AAL57039 (Get FASTA)   NCBI Sequence Viewer  
  AAN40037 (Get FASTA)   NCBI Sequence Viewer  
  AAY14761 (Get FASTA)   NCBI Sequence Viewer  
  BAD92070 (Get FASTA)   NCBI Sequence Viewer  
  EAX00727 (Get FASTA)   NCBI Sequence Viewer  
  EAX00728 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264709
  ENSP00000264709.3
  ENSP00000324375
  ENSP00000324375.5
  ENSP00000370122
  ENSP00000370122.4
  ENSP00000370132
  ENSP00000370132.3
  ENSP00000384237
  ENSP00000384237.1
  ENSP00000384852
  ENSP00000384852.3
  ENSP00000507765.1
  ENSP00000508654.1
  ENSP00000508911.1
  ENSP00000508991.1
  ENSP00000509807.1
  ENSP00000510299.1
  ENSP00000510393.1
GenBank Protein Q9Y6K1 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_783328   ⟸   NM_175629
- Peptide Label: isoform a
- UniProtKB: Q8IZV0 (UniProtKB/Swiss-Prot),   Q86XF5 (UniProtKB/Swiss-Prot),   Q86TE8 (UniProtKB/Swiss-Prot),   E9PEB8 (UniProtKB/Swiss-Prot),   Q8WXU9 (UniProtKB/Swiss-Prot),   Q9Y6K1 (UniProtKB/Swiss-Prot),   Q59HC6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_072046   ⟸   NM_022552
- Peptide Label: isoform a
- UniProtKB: Q8IZV0 (UniProtKB/Swiss-Prot),   Q86XF5 (UniProtKB/Swiss-Prot),   Q86TE8 (UniProtKB/Swiss-Prot),   E9PEB8 (UniProtKB/Swiss-Prot),   Q8WXU9 (UniProtKB/Swiss-Prot),   Q9Y6K1 (UniProtKB/Swiss-Prot),   Q59HC6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_715640   ⟸   NM_153759
- Peptide Label: isoform b
- UniProtKB: Q9Y6K1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_783329   ⟸   NM_175630
- Peptide Label: isoform c
- UniProtKB: Q9Y6K1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005264232   ⟸   XM_005264175
- Peptide Label: isoform X1
- UniProtKB: Q8IZV0 (UniProtKB/Swiss-Prot),   Q86XF5 (UniProtKB/Swiss-Prot),   Q86TE8 (UniProtKB/Swiss-Prot),   E9PEB8 (UniProtKB/Swiss-Prot),   Q8WXU9 (UniProtKB/Swiss-Prot),   Q9Y6K1 (UniProtKB/Swiss-Prot),   Q59HC6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530964   ⟸   XM_011532662
- Peptide Label: isoform X2
- UniProtKB: Q59HC6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530969   ⟸   XM_011532667
- Peptide Label: isoform X8
- UniProtKB: A0A0C4DG02 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530968   ⟸   XM_011532666
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011530966   ⟸   XM_011532664
- Peptide Label: isoform X5
- UniProtKB: F8WE91 (UniProtKB/TrEMBL),   Q59HC6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307822   ⟸   NM_001320893
- Peptide Label: isoform d
- UniProtKB: Q9Y6K1 (UniProtKB/Swiss-Prot),   Q59HC6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307821   ⟸   NM_001320892
- Peptide Label: isoform c
- UniProtKB: Q9Y6K1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016859015   ⟸   XM_017003526
- Peptide Label: isoform X1
- UniProtKB: Q8IZV0 (UniProtKB/Swiss-Prot),   Q86XF5 (UniProtKB/Swiss-Prot),   Q86TE8 (UniProtKB/Swiss-Prot),   E9PEB8 (UniProtKB/Swiss-Prot),   Q8WXU9 (UniProtKB/Swiss-Prot),   Q9Y6K1 (UniProtKB/Swiss-Prot),   Q59HC6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016859016   ⟸   XM_017003527
- Peptide Label: isoform X8
- UniProtKB: A0A0C4DG02 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001362748   ⟸   NM_001375819
- Peptide Label: isoform e
- UniProtKB: A0A0C4DG02 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000324375   ⟸   ENST00000321117
RefSeq Acc Id: ENSP00000384237   ⟸   ENST00000402667
RefSeq Acc Id: ENSP00000384852   ⟸   ENST00000406659
RefSeq Acc Id: ENSP00000370122   ⟸   ENST00000380746
RefSeq Acc Id: ENSP00000370132   ⟸   ENST00000380756
RefSeq Acc Id: ENSP00000264709   ⟸   ENST00000264709
RefSeq Acc Id: ENSP00000507765   ⟸   ENST00000683760
RefSeq Acc Id: XP_047299548   ⟸   XM_047443592
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047299550   ⟸   XM_047443594
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047299554   ⟸   XM_047443598
- Peptide Label: isoform X8
- UniProtKB: A0A0C4DG02 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047299552   ⟸   XM_047443596
- Peptide Label: isoform X8
- UniProtKB: A0A0C4DG02 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047299553   ⟸   XM_047443597
- Peptide Label: isoform X8
- UniProtKB: A0A0C4DG02 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047299549   ⟸   XM_047443593
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047299555   ⟸   XM_047443599
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054196876   ⟸   XM_054340901
- Peptide Label: isoform X1
- UniProtKB: Q9Y6K1 (UniProtKB/Swiss-Prot),   Q8IZV0 (UniProtKB/Swiss-Prot),   Q86XF5 (UniProtKB/Swiss-Prot),   Q86TE8 (UniProtKB/Swiss-Prot),   E9PEB8 (UniProtKB/Swiss-Prot),   Q8WXU9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054196875   ⟸   XM_054340900
- Peptide Label: isoform X1
- UniProtKB: Q9Y6K1 (UniProtKB/Swiss-Prot),   Q8IZV0 (UniProtKB/Swiss-Prot),   Q86XF5 (UniProtKB/Swiss-Prot),   Q86TE8 (UniProtKB/Swiss-Prot),   E9PEB8 (UniProtKB/Swiss-Prot),   Q8WXU9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054196877   ⟸   XM_054340902
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054196878   ⟸   XM_054340903
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054196884   ⟸   XM_054340909
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054196885   ⟸   XM_054340910
- Peptide Label: isoform X8
- UniProtKB: A0A0C4DG02 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196888   ⟸   XM_054340913
- Peptide Label: isoform X8
- UniProtKB: A0A0C4DG02 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196883   ⟸   XM_054340908
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054196886   ⟸   XM_054340911
- Peptide Label: isoform X8
- UniProtKB: A0A0C4DG02 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196887   ⟸   XM_054340912
- Peptide Label: isoform X8
- UniProtKB: A0A0C4DG02 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196882   ⟸   XM_054340907
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054196881   ⟸   XM_054340906
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054196879   ⟸   XM_054340904
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054196890   ⟸   XM_054340915
- Peptide Label: isoform X5
- UniProtKB: F8WE91 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196880   ⟸   XM_054340905
- Peptide Label: isoform X5
- UniProtKB: F8WE91 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196889   ⟸   XM_054340914
- Peptide Label: isoform X9
Protein Domains
ADD   DNMT3 ADD   PHD-type   PWWP   SAM-dependent MTase C5-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y6K1-F1-model_v2 AlphaFold Q9Y6K1 1-912 view protein structure

Promoters
RGD ID:6859800
Promoter ID:EPDNEW_H3064
Type:initiation region
Name:DNMT3A_2
Description:DNA methyltransferase 3 alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3065  EPDNEW_H3066  EPDNEW_H3067  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,252,263 - 25,252,323EPDNEW
RGD ID:6797093
Promoter ID:HG_KWN:31808
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000324940,   OTTHUMT00000324941
Position:
Human AssemblyChrPosition (strand)Source
Build 36225,324,336 - 25,324,836 (-)MPROMDB
RGD ID:6797090
Promoter ID:HG_KWN:31809
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000324939
Position:
Human AssemblyChrPosition (strand)Source
Build 36225,326,726 - 25,327,226 (-)MPROMDB
RGD ID:6797224
Promoter ID:HG_KWN:31810
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000380746,   ENST00000402667,   OTTHUMT00000325376
Position:
Human AssemblyChrPosition (strand)Source
Build 36225,328,256 - 25,328,762 (-)MPROMDB
RGD ID:6859802
Promoter ID:EPDNEW_H3065
Type:initiation region
Name:DNMT3A_1
Description:DNA methyltransferase 3 alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3064  EPDNEW_H3066  EPDNEW_H3067  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,341,925 - 25,341,985EPDNEW
RGD ID:6859804
Promoter ID:EPDNEW_H3066
Type:initiation region
Name:DNMT3A_3
Description:DNA methyltransferase 3 alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3064  EPDNEW_H3065  EPDNEW_H3067  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,342,468 - 25,342,528EPDNEW
RGD ID:6859806
Promoter ID:EPDNEW_H3067
Type:initiation region
Name:DNMT3A_4
Description:DNA methyltransferase 3 alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3064  EPDNEW_H3065  EPDNEW_H3066  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,342,631 - 25,342,691EPDNEW
RGD ID:6811862
Promoter ID:HG_ACW:43384
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:DNMT3A.JAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36225,389,881 - 25,390,381 (-)MPROMDB
RGD ID:6797089
Promoter ID:HG_KWN:31811
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_022552,   UC002RGE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36225,418,211 - 25,419,072 (-)MPROMDB
RGD ID:6797091
Promoter ID:HG_KWN:31812
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:NM_175629,   NM_175630,   UC010EYI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36225,418,604 - 25,419,104 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2978 AgrOrtholog
COSMIC DNMT3A COSMIC
Ensembl Genes ENSG00000119772 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264709 ENTREZGENE
  ENST00000264709.7 UniProtKB/Swiss-Prot
  ENST00000321117 ENTREZGENE
  ENST00000321117.10 UniProtKB/Swiss-Prot
  ENST00000380746 ENTREZGENE
  ENST00000380746.8 UniProtKB/Swiss-Prot
  ENST00000380756 ENTREZGENE
  ENST00000380756.7 UniProtKB/TrEMBL
  ENST00000402667 ENTREZGENE
  ENST00000402667.1 UniProtKB/TrEMBL
  ENST00000406659 ENTREZGENE
  ENST00000406659.3 UniProtKB/Swiss-Prot
  ENST00000461228.1 UniProtKB/TrEMBL
  ENST00000470983.5 UniProtKB/TrEMBL
  ENST00000474887.6 UniProtKB/TrEMBL
  ENST00000482935.5 UniProtKB/TrEMBL
  ENST00000491288.5 UniProtKB/TrEMBL
  ENST00000683393.1 UniProtKB/TrEMBL
  ENST00000683760.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.30.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PWWP, helical domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000119772 GTEx
HGNC ID HGNC:2978 ENTREZGENE
Human Proteome Map DNMT3A Human Proteome Map
InterPro ADD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADD_DNMT3A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C5_DNA_meth_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C5_MeTfrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNMT3_ADD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNMT3_ADD_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PWWP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM-dependent_MTases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1788 UniProtKB/Swiss-Prot
NCBI Gene 1788 ENTREZGENE
OMIM 602769 OMIM
PANTHER DNA CYTOSINE-5- -METHYLTRANSFERASE 3-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF3444 DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  METHYL-CPG BINDING PROTEIN, DROSOPHILA UniProtKB/TrEMBL
  PTHR23068:SF10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SIX-BANDED, ISOFORM H UniProtKB/TrEMBL
Pfam ADD_DNMT3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADDz_Dnmt3b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_methylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PWWP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27445 PharmGKB
PROSITE ADD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C5_MTASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PWWP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_MT_C5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PWWP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tudor/PWWP/MBT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DG02 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KNQ0_HUMAN UniProtKB/TrEMBL
  A0A8I5KPS0_HUMAN UniProtKB/TrEMBL
  A0A8I5KTF6_HUMAN UniProtKB/TrEMBL
  A0A8I5KUD4_HUMAN UniProtKB/TrEMBL
  A0A8I5KXG9_HUMAN UniProtKB/TrEMBL
  A0A8I5QKW3_HUMAN UniProtKB/TrEMBL
  DNM3A_HUMAN UniProtKB/Swiss-Prot
  E9PEB8 ENTREZGENE
  F8WE91 ENTREZGENE, UniProtKB/TrEMBL
  Q59HC6 ENTREZGENE, UniProtKB/TrEMBL
  Q6PJ37_HUMAN UniProtKB/TrEMBL
  Q86TE8 ENTREZGENE
  Q86XF5 ENTREZGENE
  Q8IZV0 ENTREZGENE
  Q8WVA9_HUMAN UniProtKB/TrEMBL
  Q8WXU9 ENTREZGENE
  Q9Y6K1 ENTREZGENE
UniProt Secondary E9PEB8 UniProtKB/Swiss-Prot
  Q86TE8 UniProtKB/Swiss-Prot
  Q86XF5 UniProtKB/Swiss-Prot
  Q8IZV0 UniProtKB/Swiss-Prot
  Q8WXU9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 DNMT3A  DNA methyltransferase 3 alpha  DNMT3A  DNA (cytosine-5-)-methyltransferase 3 alpha  Symbol and/or name change 5135510 APPROVED