DNMT3B (DNA methyltransferase 3 beta) - Rat Genome Database

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Gene: DNMT3B (DNA methyltransferase 3 beta) Homo sapiens
Analyze
Symbol: DNMT3B
Name: DNA methyltransferase 3 beta
RGD ID: 1606037
HGNC Page HGNC:2979
Description: Enables DNA (cytosine-5-)-methyltransferase activity and transcription corepressor activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of gene expression. Located in nucleoplasm. Part of catalytic complex. Implicated in several diseases, including autoimmune disease (multiple); carcinoma (multiple); facioscapulohumeral muscular dystrophy 4; immunodeficiency-centromeric instability-facial anomalies syndrome 1; and thymoma. Biomarker of several diseases, including autoimmune disease (multiple); endometriosis (multiple); gastrointestinal system cancer (multiple); myeloid leukemia (multiple); and pancreatic ductal carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DNA (cytosine-5)-methyltransferase 3B; DNA (cytosine-5-)-methyltransferase 3 beta; DNA cytosine-5--methyltransferase 3 beta; DNA methyltransferase HsaIIIB; DNA MTase HsaIIIB; FSHD4; ICF; ICF1; M.HsaIIIB
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382032,762,385 - 32,809,356 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2032,762,385 - 32,809,359 (+)EnsemblGRCh38hg38GRCh38
GRCh372031,350,191 - 31,397,162 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362030,813,852 - 30,860,823 (+)NCBINCBI36Build 36hg18NCBI36
Celera2028,104,119 - 28,151,087 (+)NCBICelera
Cytogenetic Map20q11.21NCBI
HuRef2028,137,312 - 28,184,284 (+)NCBIHuRef
CHM1_12031,253,633 - 31,300,607 (+)NCBICHM1_1
T2T-CHM13v2.02034,489,113 - 34,536,082 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute myeloid leukemia  (IAGP,IEP)
anxiety disorder  (ISO)
autism spectrum disorder  (EXP)
autoimmune thrombocytopenic purpura  (IAGP,IEP)
B-Cell Chronic Lymphocytic Leukemia  (IEP)
Breast Neoplasms  (EXP)
carcinoma  (EXP)
chronic myeloid leukemia  (IEP)
colorectal adenocarcinoma  (IAGP)
Colorectal Neoplasms  (IAGP)
congenital heart disease  (ISO)
Craniofacial Abnormalities  (EXP)
Dysmenorrhea  (IEP)
Endometrial Neoplasms  (IEP)
Endometrioid Carcinomas  (IEP)
endometriosis  (IEP)
endometriosis of uterus  (IEP)
esophagus squamous cell carcinoma  (IEP)
Experimental Mammary Neoplasms  (ISO)
facioscapulohumeral muscular dystrophy 4  (IAGP)
Familial Prostate Cancer  (EXP)
Female Infertility  (EXP)
fetal alcohol spectrum disorder  (ISO)
Fetal Growth Retardation  (ISO)
gastric body carcinoma  (IEP)
genetic disease  (IAGP)
glutathione synthetase deficiency  (IAGP)
glutatione synthetase deficiency with 5-oxoprolinuria  (IAGP)
head and neck squamous cell carcinoma  (IAGP)
hepatocellular carcinoma  (IEP,ISO)
immunodeficiency-centromeric instability-facial anomalies syndrome  (IAGP)
immunodeficiency-centromeric instability-facial anomalies syndrome 1  (IAGP,ISS)
Kabuki Syndrome 1  (IAGP)
lung adenocarcinoma  (IAGP)
lung cancer  (IEP)
lung small cell carcinoma  (IAGP)
Lymphatic Metastasis  (IEP)
Multiple Primary Neoplasms  (IAGP)
myelodysplastic syndrome  (EXP)
Neoplasm Metastasis  (IMP)
Oral Lichen Planus  (IAGP,IEP)
oral squamous cell carcinoma  (IEP,IMP)
pancreatic ductal carcinoma  (IEP)
primary immunodeficiency disease  (EXP)
prostate adenocarcinoma  (ISO)
Prostatic Neoplasms  (EXP)
prostatitis  (ISO)
rheumatoid arthritis  (IAGP)
schizophrenia  (IAGP)
skin melanoma  (IEP)
Stomach Neoplasms  (EXP)
thymoma  (IAGP)
type 1 diabetes mellitus  (IEP)
Uterine Cervical Neoplasms  (IAGP,IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3'-diindolylmethane  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-phenylprop-2-enal  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-nitro-m-cresol  (ISO)
4-nonylphenol  (EXP)
4-tert-Octylphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-azacytidine  (EXP)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (ISO)
8-hydroxy-2'-deoxyguanosine  (EXP)
acetic acid  (ISO)
acetylsalicylic acid  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
allethrin  (ISO)
amphetamine  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP,ISO)
asiatic acid  (ISO)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzophenanthridine  (EXP)
berberine  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
bisphenol F  (ISO)
bromobenzene  (ISO)
bromochloroacetic acid  (ISO)
buta-1,3-diene  (ISO)
Butylparaben  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP,ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
cisplatin  (EXP,ISO)
cocaine  (ISO)
copper(II) sulfate  (EXP)
curcumin  (EXP,ISO)
cyclophosphamide  (EXP)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
D-penicillamine  (ISO)
DDT  (ISO)
desferrioxamine B  (EXP)
dexamethasone  (ISO)
Diallyltetrasulfane  (ISO)
diarsenic trioxide  (EXP,ISO)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
diphenylcyclopropenone  (EXP)
disodium selenite  (ISO)
dorsomorphin  (EXP)
endosulfan  (EXP,ISO)
entinostat  (EXP,ISO)
ethanol  (EXP,ISO)
etoposide  (EXP)
fenvalerate  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP,ISO)
fumonisin B1  (EXP)
gemcitabine  (EXP)
genistein  (EXP)
gentamycin  (ISO)
gibberellin A3  (ISO)
glycine betaine  (ISO)
glyphosate  (ISO)
guggulsterone  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
indole-3-methanol  (ISO)
isoprenaline  (ISO)
isorhapontigenin  (EXP)
ketamine  (ISO)
ketoconazole  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
leflunomide  (EXP)
LY294002  (EXP)
malathion  (ISO)
menadione  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP,ISO)
microcystin-LR  (EXP)
Monobutylphthalate  (ISO)
morphine  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
ozone  (EXP,ISO)
p-tert-Amylphenol  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
PCB138  (ISO)
pelargonidin  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (ISO)
procyanidin B2  (EXP)
pterostilbene  (EXP)
pyrethrins  (ISO)
quartz  (EXP)
resveratrol  (EXP,ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (EXP)
streptozocin  (ISO)
sulforaphane  (EXP)
tamoxifen  (EXP,ISO)
tangeretin  (ISO)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
uranium atom  (ISO)
valproic acid  (EXP,ISO)
vanillin  (EXP)
vinclozolin  (ISO)
vinyl carbamate  (ISO)
withaferin A  (EXP)
wortmannin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
catalytic complex  (IPI)
chromosome, centromeric region  (ISO)
heterochromatin  (ISO)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA,NAS,TAS)

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

Human Phenotype
Abdominal wall muscle weakness  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormality of chromosome stability  (IAGP)
Abnormality of neutrophils  (IAGP)
Adult onset  (IAGP)
Anemia  (IAGP)
Anteverted nares  (IAGP)
Autosomal recessive inheritance  (IAGP)
Beevor's sign  (IAGP)
Bronchiectasis  (IAGP)
Camptocormia  (IAGP)
Cellular immunodeficiency  (IAGP)
Chronic bronchitis  (IAGP)
Chronic pain  (IAGP)
Communicating hydrocephalus  (IAGP)
Conjunctivitis  (IAGP)
Decreased circulating antibody concentration  (IAGP)
Decreased circulating IgA concentration  (IAGP)
Decreased facial expression  (IAGP)
Depressed nasal bridge  (IAGP)
Diarrhea  (IAGP)
Digenic inheritance  (IAGP)
Distal upper limb muscle weakness  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Epicanthus  (IAGP)
Exudative retinopathy  (IAGP)
Failure to thrive  (IAGP)
Flat face  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frequent falls  (IAGP)
Gait disturbance  (IAGP)
Global developmental delay  (IAGP)
Hyperlordosis  (IAGP)
Hypertelorism  (IAGP)
Immunodeficiency  (IAGP)
Increased circulating IgM level  (IAGP)
Intellectual disability  (IAGP)
Keratitis  (IAGP)
Limb-girdle muscle weakness  (IAGP)
Low-set ears  (IAGP)
Lymphopenia  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Malabsorption  (IAGP)
Malar flattening  (IAGP)
Mask-like facies  (IAGP)
Micrognathia  (IAGP)
Nocturnal lagophthalmos  (IAGP)
Pectoralis amyotrophy  (IAGP)
Pectus excavatum  (IAGP)
Pneumonia  (IAGP)
Progressive muscle weakness  (IAGP)
Protruding tongue  (IAGP)
Protuberant abdomen  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduced glutathione synthetase level  (IAGP)
Reduced natural killer cell count  (IAGP)
Respiratory insufficiency  (IAGP)
Restrictive ventilatory defect  (IAGP)
Retinal detachment  (IAGP)
Right bundle branch block  (IAGP)
Scapular winging  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Sinusitis  (IAGP)
Skeletal muscle atrophy  (IAGP)
Steppage gait  (IAGP)
Straight clavicles  (IAGP)
Supraventricular arrhythmia  (IAGP)
T lymphocytopenia  (IAGP)
Umbilical hernia  (IAGP)
Upper limb muscle weakness  (IAGP)
Visual loss  (IAGP)
Weakness of facial musculature  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Genetic sequence variants and the development of secondary primary cancers in patients with head and neck cancers. Azad AK, etal., Cancer. 2012 Mar 15;118(6):1554-65. doi: 10.1002/cncr.26446. Epub 2011 Aug 25.
2. 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.
3. The role of DNA methyltransferase 3b in esophageal squamous cell carcinoma. Chen MF, etal., Cancer. 2012 Aug 15;118(16):4074-89. doi: 10.1002/cncr.26736. Epub 2011 Dec 27.
4. Significance of DNMT3b in oral cancer. Chen WC, etal., PLoS One. 2014 Mar 13;9(3):e89956. doi: 10.1371/journal.pone.0089956. eCollection 2014.
5. Association of the DNMT3B -579G>T polymorphism with risk of thymomas in patients with myasthenia gravis. Coppede F, etal., PLoS One. 2013 Nov 19;8(11):e80846. doi: 10.1371/journal.pone.0080846. eCollection 2013.
6. 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.
7. 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.
8. Genetic variants of methyl metabolizing enzymes and epigenetic regulators: associations with promoter CpG island hypermethylation in colorectal cancer. de Vogel S, etal., Cancer Epidemiol Biomarkers Prev. 2009 Nov;18(11):3086-96. doi: 10.1158/1055-9965.EPI-09-0289. Epub 2009 Oct 20.
9. 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.
10. Promoter polymorphisms of DNMT3B and the risk of colorectal cancer in Chinese: a case-control study. Fan H, etal., J Exp Clin Cancer Res. 2008 Jul 28;27:24. doi: 10.1186/1756-9966-27-24.
11. 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.
12. [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.
13. DNMT3B (C46359T) polymorphisms and immunoexpression of DNMT3b and DNMT1 proteins in oral lichen planus. Fonseca-Silva T, etal., Pathobiology. 2012;79(1):18-23. doi: 10.1159/000330171. Epub 2012 Jan 12.
14. Fetal Alcohol Exposure Reduces Dopamine Receptor D2 and Increases Pituitary Weight and Prolactin Production via Epigenetic Mechanisms. Gangisetty O, etal., PLoS One. 2015 Oct 28;10(10):e0140699. doi: 10.1371/journal.pone.0140699. eCollection 2015.
15. Association of the DNMT3B polymorphism with colorectal adenomatous polyps and adenocarcinoma. Guo X, etal., Mol Biol Rep. 2010 Jan;37(1):219-25. doi: 10.1007/s11033-009-9626-z. Epub 2009 Jul 22.
16. High DNA methyltransferase DNMT3B levels: a poor prognostic marker in acute myeloid leukemia. Hayette S, etal., PLoS One. 2012;7(12):e51527. doi: 10.1371/journal.pone.0051527. Epub 2012 Dec 10.
17. The 46359CT polymorphism of DNMT3B is associated with the risk of cervical cancer. Hernandez-Sotelo D, etal., Mol Biol Rep. 2013 Jul;40(7):4275-80. doi: 10.1007/s11033-013-2511-9. Epub 2013 May 16.
18. DNA methyltransferase 3B (DNMT3B -579G>T) promotor polymorphism and the susceptibility to pediatric immune thrombocytopenic purpura in Egypt. Khorshied MM and El-Ghamrawy MK, Gene. 2012 Dec 10;511(1):34-7. doi: 10.1016/j.gene.2012.09.024. Epub 2012 Sep 18.
19. Expression analysis of the epigenetic methyltransferases and methyl-CpG binding protein families in the normal B-cell and B-cell chronic lymphocytic leukemia (CLL). Kn H, etal., Cancer Biol Ther. 2004 Oct;3(10):989-94. Epub 2004 Oct 2.
20. DNMT3B polymorphisms and risk of primary lung cancer. Lee SJ, etal., Carcinogenesis. 2005 Feb;26(2):403-9. Epub 2004 Nov 4.
21. Abnormal DNA methylation in CD4+ T cells from people with latent autoimmune diabetes in adults. Li Y, etal., Diabetes Res Clin Pract. 2011 Nov;94(2):242-8. doi: 10.1016/j.diabres.2011.07.027. Epub 2011 Aug 23.
22. [The C46359T polymorphism of DNMT3B promoter gene and pathogenesis of acute leukemia]. Li Y, etal., Zhonghua Nei Ke Za Zhi. 2005 Aug;44(8):588-91.
23. 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.
24. Polymorphisms of the DNMT3B gene and risk of squamous cell carcinoma of the head and neck: a case-control study. Liu Z, etal., Cancer Lett. 2008 Sep 8;268(1):158-65. doi: 10.1016/j.canlet.2008.03.034. Epub 2008 May 1.
25. 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.
26. 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.
27. DNA methylation pathway alterations in an autochthonous murine model of prostate cancer. Morey SR, etal., Cancer Res. 2006 Dec 15;66(24):11659-67.
28. The -283C/T polymorphism of the DNMT3B gene influences the progression of joint destruction in rheumatoid arthritis. Nam EJ, etal., Rheumatol Int. 2010 Aug;30(10):1299-303. doi: 10.1007/s00296-009-1141-y. Epub 2009 Sep 24.
29. Downregulation of microRNA-29c is associated with hypermethylation of tumor-related genes and disease outcome in cutaneous melanoma. Nguyen T, etal., Epigenetics. 2011 Mar;6(3):388-94. Epub 2011 Mar 1.
30. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
31. DNA methyltransferase expression and DNA hypermethylation in human hepatocellular carcinoma. Park HJ, etal., Cancer Lett. 2006 Feb 28;233(2):271-8.
32. Correlations among PPARgamma, DNMT1, and DNMT3B Expression Levels and Pancreatic Cancer. Pazienza V, etal., PPAR Res. 2012;2012:461784. doi: 10.1155/2012/461784. Epub 2012 Aug 8.
33. Prenatal caffeine ingestion induces aberrant DNA methylation and histone acetylation of steroidogenic factor 1 and inhibits fetal adrenal steroidogenesis. Ping J, etal., Toxicology. 2014 Jul 3;321:53-61. doi: 10.1016/j.tox.2014.03.011. Epub 2014 Apr 6.
34. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
35. Methylation and miRNA effects of resveratrol on mammary tumors vs. normal tissue. Qin W, etal., Nutr Cancer. 2014;66(2):270-7. doi: 10.1080/01635581.2014.868910. Epub 2014 Jan 21.
36. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
37. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
38. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
39. Epigenetic silencing of PTPRR activates MAPK signaling, promotes metastasis and serves as a biomarker of invasive cervical cancer. Su PH, etal., Oncogene. 2013 Jan 3;32(1):15-26. doi: 10.1038/onc.2012.29. Epub 2012 Feb 13.
40. Expression pattern and clinical significance of DNA methyltransferase 3B variants in gastric carcinoma. Su X, etal., Oncol Rep. 2010 Mar;23(3):819-26.
41. 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.
42. Gestational hypoxia induces sex-differential methylation of Crhr1 linked to anxiety-like behavior. Wang X, etal., Mol Neurobiol. 2013 Dec;48(3):544-55. doi: 10.1007/s12035-013-8444-4. Epub 2013 Mar 26.
43. 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.
44. Opposite alterations of DNA methyltransferase gene expression in endometrioid and serous endometrial cancers. Xiong Y, etal., Gynecol Oncol. 2005 Mar;96(3):601-9.
45. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Xu GL, etal., Nature. 1999 Nov 11;402(6758):187-91.
46. DNA methyltransferase 3B gene increases risk of early onset schizophrenia. Zhang C, etal., Neurosci Lett. 2009 Oct 25;462(3):308-11. doi: 10.1016/j.neulet.2009.06.085. Epub 2009 Jul 2.
47. [Association of DNA methyltransferase 3B gene polymorphism with early-onset schizophrenia]. Zhang C, etal., Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Dec;27(6):697-9. doi: 10.3760/cma.j.issn.1003-9406.2010.06.022.
48. Association between DNA methyltransferases 3B gene polymorphisms and the susceptibility to acute myeloid leukemia in Chinese Han population. Zheng Q, etal., PLoS One. 2013 Sep 17;8(9):e74626. doi: 10.1371/journal.pone.0074626. eCollection 2013.
Additional References at PubMed
PMID:9662389   PMID:10325416   PMID:10433969   PMID:10555141   PMID:10588719   PMID:11076863   PMID:11102980   PMID:11350943   PMID:11735126   PMID:11780052   PMID:11932749   PMID:11934864  
PMID:12015329   PMID:12110732   PMID:12145218   PMID:12202768   PMID:12208751   PMID:12239717   PMID:12359337   PMID:12477932   PMID:12601140   PMID:12738984   PMID:12777184   PMID:12867029  
PMID:12879017   PMID:12925568   PMID:14555514   PMID:14559786   PMID:14702039   PMID:14752048   PMID:15105426   PMID:15120635   PMID:15148359   PMID:15217506   PMID:15375549   PMID:15490234  
PMID:15580563   PMID:15688037   PMID:15854647   PMID:15962389   PMID:16004934   PMID:16012746   PMID:16085498   PMID:16211278   PMID:16328059   PMID:16331260   PMID:16357870   PMID:16463117  
PMID:16481298   PMID:16501171   PMID:16501248   PMID:16543361   PMID:16682412   PMID:16773201   PMID:16920385   PMID:16951144   PMID:16951151   PMID:16983096   PMID:17017004   PMID:17067458  
PMID:17149367   PMID:17277043   PMID:17303076   PMID:17318376   PMID:17353906   PMID:17369845   PMID:17470536   PMID:17532557   PMID:17538945   PMID:17687327   PMID:17688412   PMID:17705213  
PMID:17890317   PMID:17967891   PMID:17972916   PMID:17991895   PMID:17998942   PMID:18006804   PMID:18023104   PMID:18029348   PMID:18029387   PMID:18095639   PMID:18097598   PMID:18221536  
PMID:18253830   PMID:18268116   PMID:18336997   PMID:18367714   PMID:18407600   PMID:18413740   PMID:18414412   PMID:18437543   PMID:18452947   PMID:18499700   PMID:18544619   PMID:18563322  
PMID:18567530   PMID:18639864   PMID:18762900   PMID:18829110   PMID:18953337   PMID:19019622   PMID:19024105   PMID:19064572   PMID:19107573   PMID:19124506   PMID:19211935   PMID:19246518  
PMID:19326430   PMID:19399408   PMID:19451595   PMID:19465161   PMID:19465937   PMID:19470733   PMID:19482874   PMID:19502167   PMID:19517237   PMID:19620278   PMID:19680556   PMID:19696477  
PMID:19763880   PMID:19786833   PMID:19789190   PMID:19798101   PMID:19798569   PMID:19825994   PMID:19854132   PMID:19896490   PMID:19932585   PMID:20301616   PMID:20375073   PMID:20381114  
PMID:20381446   PMID:20398054   PMID:20398055   PMID:20426865   PMID:20428781   PMID:20448464   PMID:20453000   PMID:20480259   PMID:20506537   PMID:20514408   PMID:20593030   PMID:20819778  
PMID:20833755   PMID:20838592   PMID:20847044   PMID:20923784   PMID:20952535   PMID:20960050   PMID:20966256   PMID:20970125   PMID:20980350   PMID:21041608   PMID:21106767   PMID:21211326  
PMID:21229291   PMID:21304883   PMID:21406692   PMID:21482616   PMID:21490393   PMID:21519807   PMID:21521786   PMID:21549127   PMID:21559330   PMID:21592522   PMID:21698279   PMID:21712824  
PMID:21757290   PMID:21854760   PMID:21873635   PMID:21887463   PMID:21900206   PMID:21909138   PMID:21938431   PMID:22048249   PMID:22055183   PMID:22056872   PMID:22064703   PMID:22072770  
PMID:22094255   PMID:22207353   PMID:22244828   PMID:22272627   PMID:22301400   PMID:22349384   PMID:22378288   PMID:22394436   PMID:22490141   PMID:22520950   PMID:22547080   PMID:22563479  
PMID:22664488   PMID:22768205   PMID:22810147   PMID:22815530   PMID:22885766   PMID:22898819   PMID:23025623   PMID:23039890   PMID:23049596   PMID:23079992   PMID:23081874   PMID:23100393  
PMID:23128233   PMID:23393137   PMID:23486536   PMID:23527680   PMID:23545144   PMID:23636939   PMID:23658227   PMID:23708667   PMID:23820632   PMID:23894490   PMID:24001151   PMID:24028770  
PMID:24074865   PMID:24094886   PMID:24098518   PMID:24127215   PMID:24178910   PMID:24201117   PMID:24292684   PMID:24316981   PMID:24333507   PMID:24343426   PMID:24362509   PMID:24457336  
PMID:24459426   PMID:24469050   PMID:24577265   PMID:24603304   PMID:24859147   PMID:24952347   PMID:25027325   PMID:25038421   PMID:25083817   PMID:25122426   PMID:25126948   PMID:25204569  
PMID:25219500   PMID:25392095   PMID:25420499   PMID:25433949   PMID:25452147   PMID:25515408   PMID:25530201   PMID:25531315   PMID:25550796   PMID:25607950   PMID:25656965   PMID:25705251  
PMID:25746661   PMID:25749421   PMID:25769449   PMID:25815896   PMID:25822089   PMID:25899090   PMID:26098813   PMID:26239024   PMID:26262893   PMID:26305882   PMID:26406961   PMID:26416384  
PMID:26485042   PMID:26496610   PMID:26497367   PMID:26505438   PMID:26556862   PMID:26573490   PMID:26629529   PMID:26667181   PMID:26729896   PMID:26850594   PMID:26892683   PMID:26912663  
PMID:26966018   PMID:26975503   PMID:26993463   PMID:27003684   PMID:27062459   PMID:27121154   PMID:27133822   PMID:27153398   PMID:27169697   PMID:27181205   PMID:27188425   PMID:27207652  
PMID:27212035   PMID:27223069   PMID:27237591   PMID:27317771   PMID:27356727   PMID:27391030   PMID:27468168   PMID:27476967   PMID:27543768   PMID:27590349   PMID:27604394   PMID:27666771  
PMID:27668319   PMID:27720955   PMID:27728808   PMID:27734333   PMID:27764816   PMID:27789275   PMID:27817038   PMID:27826836   PMID:27832631   PMID:27876061   PMID:28036257   PMID:28041964  
PMID:28093267   PMID:28128455   PMID:28160561   PMID:28220037   PMID:28220295   PMID:28242625   PMID:28263966   PMID:28278502   PMID:28300471   PMID:28334849   PMID:28387346   PMID:28440439  
PMID:28459195   PMID:28514442   PMID:28730333   PMID:28740121   PMID:28751665   PMID:28779971   PMID:28892045   PMID:28945286   PMID:28972577   PMID:28986522   PMID:28990350   PMID:29027179  
PMID:29332452   PMID:29659838   PMID:29691401   PMID:29761417   PMID:29796115   PMID:29893409   PMID:30017965   PMID:30021884   PMID:30071066   PMID:30077875   PMID:30085123   PMID:30103729  
PMID:30341411   PMID:30359738   PMID:30411123   PMID:30535232   PMID:30614867   PMID:30718452   PMID:30851420   PMID:30950914   PMID:30979371   PMID:31148524   PMID:31167695   PMID:31219573  
PMID:31249372   PMID:31364725   PMID:31370354   PMID:31493261   PMID:31515224   PMID:31547729   PMID:31665742   PMID:31726062   PMID:31738163   PMID:31755366   PMID:31771617   PMID:31894272  
PMID:31931367   PMID:31963223   PMID:31971654   PMID:32031713   PMID:32051106   PMID:32065219   PMID:32083663   PMID:32118373   PMID:32159363   PMID:32265226   PMID:32360517   PMID:32468273  
PMID:32513696   PMID:32526811   PMID:32543182   PMID:32552060   PMID:32620778   PMID:32652733   PMID:32710193   PMID:32776659   PMID:32780107   PMID:32863235   PMID:32912818   PMID:32957806  
PMID:32968275   PMID:32990224   PMID:32994141   PMID:33087088   PMID:33105482   PMID:33199829   PMID:33221743   PMID:33247696   PMID:33298433   PMID:33369477   PMID:33418509   PMID:33522955  
PMID:33538241   PMID:33714108   PMID:33793661   PMID:33885332   PMID:33925659   PMID:33961781   PMID:34299205   PMID:34380460   PMID:34416176   PMID:34587932   PMID:34680970   PMID:34697715  
PMID:34783292   PMID:34801563   PMID:34831178   PMID:34997427   PMID:35044719   PMID:35129056   PMID:35182466   PMID:35354120   PMID:35390315   PMID:35507987   PMID:35575683   PMID:35670956  
PMID:35763627   PMID:35857355   PMID:35864964   PMID:35998875   PMID:36043519   PMID:36067529   PMID:36181640   PMID:36242939   PMID:36356335   PMID:36361550   PMID:36413827   PMID:36447056  
PMID:36458887   PMID:36653180   PMID:36739439   PMID:36980848   PMID:37052262   PMID:37290172   PMID:37609425   PMID:37705098   PMID:37807334   PMID:37845283   PMID:37878642   PMID:37902910  
PMID:37941146   PMID:38136588   PMID:38296839   PMID:38376465   PMID:38697112   PMID:38705495   PMID:38809976   PMID:39023272   PMID:39227479   PMID:39290110  


Genomics

Comparative Map Data
DNMT3B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382032,762,385 - 32,809,356 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2032,762,385 - 32,809,359 (+)EnsemblGRCh38hg38GRCh38
GRCh372031,350,191 - 31,397,162 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362030,813,852 - 30,860,823 (+)NCBINCBI36Build 36hg18NCBI36
Celera2028,104,119 - 28,151,087 (+)NCBICelera
Cytogenetic Map20q11.21NCBI
HuRef2028,137,312 - 28,184,284 (+)NCBIHuRef
CHM1_12031,253,633 - 31,300,607 (+)NCBICHM1_1
T2T-CHM13v2.02034,489,113 - 34,536,082 (+)NCBIT2T-CHM13v2.0
Dnmt3b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392153,491,332 - 153,529,650 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2153,491,370 - 153,529,650 (+)EnsemblGRCm39 Ensembl
GRCm382153,649,411 - 153,687,730 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2153,649,450 - 153,687,730 (+)EnsemblGRCm38mm10GRCm38
MGSCv372153,475,190 - 153,513,466 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362153,340,895 - 153,379,168 (+)NCBIMGSCv36mm8
Celera2159,495,468 - 159,534,017 (+)NCBICelera
Cytogenetic Map2H1NCBI
cM Map275.79NCBI
Dnmt3b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83162,590,777 - 162,629,313 (+)NCBIGRCr8
mRatBN7.23142,130,588 - 142,169,128 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3142,130,592 - 142,169,124 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3146,032,579 - 146,071,202 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03154,616,397 - 154,655,021 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03152,356,679 - 152,395,302 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03149,131,541 - 149,170,061 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3149,131,785 - 149,208,786 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03155,510,828 - 155,591,435 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43144,030,737 - 144,069,265 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13143,936,358 - 143,974,887 (+)NCBI
Celera3140,873,202 - 140,910,431 (+)NCBICelera
Cytogenetic Map3q41NCBI
Dnmt3b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542228,380,591 - 28,421,301 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542228,380,595 - 28,427,012 (-)NCBIChiLan1.0ChiLan1.0
DNMT3B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22138,453,003 - 38,499,976 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12038,446,101 - 38,493,074 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02029,049,993 - 29,096,957 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12030,169,081 - 30,215,487 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2030,186,069 - 30,215,487 (+)Ensemblpanpan1.1panPan2
DNMT3B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12422,096,386 - 22,123,378 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2422,096,349 - 22,122,900 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2421,724,710 - 21,769,260 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02422,765,878 - 22,810,458 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2422,782,662 - 22,810,452 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12422,042,034 - 22,086,566 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02422,150,746 - 22,195,021 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02422,581,755 - 22,626,058 (+)NCBIUU_Cfam_GSD_1.0
Dnmt3b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640171,116,001 - 171,139,372 (+)NCBIHiC_Itri_2
SpeTri2.0NW_00493648519,547,836 - 19,570,716 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNMT3B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1736,345,816 - 36,386,072 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11736,345,715 - 36,386,076 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21741,282,731 - 41,322,908 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DNMT3B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1237,128,635 - 37,176,033 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl237,146,538 - 37,174,570 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605089,724,034 - 89,772,846 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dnmt3b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248426,450,852 - 6,475,785 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248426,450,972 - 6,505,929 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DNMT3B
828 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006892.4(DNMT3B):c.565G>A (p.Ala189Thr) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000556975] Chr20:32787362 [GRCh38]
Chr20:31375168 [GRCh37]
Chr20:20q11.21
uncertain significance
DNMT3B, LEU656THR variation Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007129] Chr20:20q11.2 pathogenic
DNMT3B, EX21-22DEL deletion Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007130] Chr20:20q11.2 pathogenic
DNMT3B, 1-BP INS, CODON 53 insertion Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007131] Chr20:20q11.2 pathogenic
NM_006892.4(DNMT3B):c.2421-11G>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003593854]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007133]|not provided [RCV001268751] Chr20:32807751 [GRCh38]
Chr20:31395557 [GRCh37]
Chr20:20q11.21
pathogenic|likely pathogenic
NM_006892.4(DNMT3B):c.423G>A (p.Pro141=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001494963] Chr20:32786618 [GRCh38]
Chr20:31374424 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2292G>T (p.Arg764Ser) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001201371]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000544568] Chr20:32805398 [GRCh38]
Chr20:31393204 [GRCh37]
Chr20:20q11.21
pathogenic|likely pathogenic|uncertain significance
NM_006892.4(DNMT3B):c.167C>T (p.Ser56Phe) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002231639]|not provided [RCV000522310] Chr20:32781377 [GRCh38]
Chr20:31369183 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1454G>A (p.Arg485Gln) single nucleotide variant not provided [RCV000521490] Chr20:32797263 [GRCh38]
Chr20:31385069 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2450A>G (p.Asp817Gly) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007125] Chr20:32807791 [GRCh38]
Chr20:31395597 [GRCh37]
Chr20:20q11.21
pathogenic
NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002512865]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007126] Chr20:32807793 [GRCh38]
Chr20:31395599 [GRCh37]
Chr20:20q11.21
pathogenic|likely pathogenic|uncertain significance
NM_006892.4(DNMT3B):c.2177T>G (p.Val726Gly) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002227999] Chr20:32802416 [GRCh38]
Chr20:31390222 [GRCh37]
Chr20:20q11.21
pathogenic|uncertain significance
NM_006892.4(DNMT3B):c.1987G>A (p.Gly663Ser) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007128] Chr20:32800916 [GRCh38]
Chr20:31388722 [GRCh37]
Chr20:20q11.21
pathogenic
NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002512866]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007132] Chr20:32800200 [GRCh38]
Chr20:31388006 [GRCh37]
Chr20:20q11.21
pathogenic|likely pathogenic
NM_006892.4(DNMT3B):c.2237T>G (p.Val746Gly) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007134] Chr20:32805343 [GRCh38]
Chr20:31393149 [GRCh37]
Chr20:20q11.21
pathogenic
NM_006892.4(DNMT3B):c.88C>T (p.Gln30Ter) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007135] Chr20:32780411 [GRCh38]
Chr20:31368217 [GRCh37]
Chr20:20q11.21
pathogenic
NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003593855]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007136] Chr20:32807860 [GRCh38]
Chr20:31395666 [GRCh37]
Chr20:20q11.21
pathogenic|likely pathogenic
NM_006892.4(DNMT3B):c.808T>C (p.Ser270Pro) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007137] Chr20:32789007 [GRCh38]
Chr20:31376813 [GRCh37]
Chr20:20q11.21
pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12
pathogenic
NM_006892.4(DNMT3B):c.1760-6_1760-5delinsTG indel Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001302472] Chr20:32800147..32800148 [GRCh38]
Chr20:31387953..31387954 [GRCh37]
Chr20:20q11.21
uncertain significance
GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3 copy number gain See cases [RCV000135358] Chr20:31254983..33473080 [GRCh38]
Chr20:29842786..32060886 [GRCh37]
Chr20:29306447..31524547 [NCBI36]
Chr20:20q11.21
pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3 copy number gain See cases [RCV000141833] Chr20:32062768..35906606 [GRCh38]
Chr20:30650571..34494528 [GRCh37]
Chr20:30114232..33957942 [NCBI36]
Chr20:20q11.21-11.23
pathogenic
GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3 copy number gain See cases [RCV000240436] Chr20:17705775..31600738 [GRCh37]
Chr20:20p12.1-q11.21
pathogenic
NM_006892.4(DNMT3B):c.1144C>T (p.Arg382Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000529046]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138651]|See cases [RCV002252154]|not provided [RCV000524057] Chr20:32795426 [GRCh38]
Chr20:31383232 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1219G>A (p.Gly407Ser) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001049943]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000282009]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV004725178]|Inborn genetic diseases [RCV002523156]|not provided [RCV004694598] Chr20:32795501 [GRCh38]
Chr20:31383307 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.341G>A (p.Arg114Gln) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000270418] Chr20:32786536 [GRCh38]
Chr20:31374342 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1878C>T (p.Asn626=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000859865]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000261077]|not provided [RCV004717368] Chr20:32800271 [GRCh38]
Chr20:31388077 [GRCh37]
Chr20:20q11.21
benign|likely benign|conflicting interpretations of pathogenicity
NM_006892.4(DNMT3B):c.*1318del deletion Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000269320] Chr20:32809214 [GRCh38]
Chr20:31397020 [GRCh37]
Chr20:20q11.21
benign
NM_006892.4(DNMT3B):c.1572T>C (p.Cys524=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001513226]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000307572]|not provided [RCV001824745]|not specified [RCV000455468] Chr20:32798541 [GRCh38]
Chr20:31386347 [GRCh37]
Chr20:20q11.21
benign|not provided
NM_006892.4(DNMT3B):c.1906-5T>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001513229]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000356980]|not provided [RCV001824747]|not specified [RCV000455509] Chr20:32800830 [GRCh38]
Chr20:31388636 [GRCh37]
Chr20:20q11.21
benign|not provided
NM_006892.4(DNMT3B):c.1674T>C (p.Tyr558=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001513227]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000343834]|not provided [RCV001824746]|not specified [RCV000455984] Chr20:32798643 [GRCh38]
Chr20:31386449 [GRCh37]
Chr20:20q11.21
benign|not provided
NM_006892.4(DNMT3B):c.1760-8C>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000859840]|DNMT3B-related disorder [RCV003922475]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000309459]|not provided [RCV003656633] Chr20:32800145 [GRCh38]
Chr20:31387951 [GRCh37]
Chr20:20q11.21
benign|likely benign|conflicting interpretations of pathogenicity
NM_006892.4(DNMT3B):c.1760-8C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001079114]|DNMT3B-related disorder [RCV003912424]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000359565]|not provided [RCV000658910]|not specified [RCV001702007] Chr20:32800145 [GRCh38]
Chr20:31387951 [GRCh37]
Chr20:20q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006892.4(DNMT3B):c.1760-5C>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001513228]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000394272]|not provided [RCV001534488]|not specified [RCV000454844] Chr20:32800148 [GRCh38]
Chr20:32800148..32800149 [GRCh38]
Chr20:31387954 [GRCh37]
Chr20:31387954..31387955 [GRCh37]
Chr20:20q11.21
benign
NM_006892.4(DNMT3B):c.*942A>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000275326] Chr20:32808845 [GRCh38]
Chr20:31396651 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.*245dup duplication Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000282840] Chr20:32808142..32808143 [GRCh38]
Chr20:31395948..31395949 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*1076C>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000370940] Chr20:32808979 [GRCh38]
Chr20:31396785 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.143-8C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001461705]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000315142]|not provided [RCV000762342] Chr20:32781345 [GRCh38]
Chr20:31369151 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.1881C>T (p.Asp627=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001081826]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000316191]|not provided [RCV004717369] Chr20:32800274 [GRCh38]
Chr20:31388080 [GRCh37]
Chr20:20q11.21
benign|likely benign|conflicting interpretations of pathogenicity
NM_006892.4(DNMT3B):c.895C>A (p.Arg299=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002520010]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000364913] Chr20:32791682 [GRCh38]
Chr20:31379488 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.*827A>G single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000368232]|not provided [RCV004717371] Chr20:32808730 [GRCh38]
Chr20:31396536 [GRCh37]
Chr20:20q11.21
benign
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000859904]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000371781]|Kabuki syndrome 1 [RCV000578148]|not provided [RCV001618596]|not specified [RCV002265745] Chr20:32795493 [GRCh38]
Chr20:31383299 [GRCh37]
Chr20:20q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006892.4(DNMT3B):c.-234G>C single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000279491] Chr20:32762472 [GRCh38]
Chr20:31350278 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.158C>T (p.Ser53Leu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003114498]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000369778] Chr20:32781368 [GRCh38]
Chr20:31369174 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*1332C>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000326746] Chr20:32809235 [GRCh38]
Chr20:31397041 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.922-8C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001080093]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000320803]|not provided [RCV000762343] Chr20:32792618 [GRCh38]
Chr20:31380424 [GRCh37]
Chr20:20q11.21
benign|likely benign|uncertain significance
NM_006892.4(DNMT3B):c.*1405C>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000320744] Chr20:32809308 [GRCh38]
Chr20:31397114 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.-274C>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000378601]|not provided [RCV004717366] Chr20:32762432 [GRCh38]
Chr20:31350238 [GRCh37]
Chr20:20q11.21
benign|uncertain significance
NM_006892.4(DNMT3B):c.1413C>T (p.Asp471=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000859942]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000351765]|not provided [RCV004717367] Chr20:32797222 [GRCh38]
Chr20:31385028 [GRCh37]
Chr20:20q11.21
benign|likely benign|conflicting interpretations of pathogenicity
NM_006892.4(DNMT3B):c.1557G>A (p.Gln519=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000859947]|DNMT3B-related disorder [RCV003922474]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000403124]|not provided [RCV003656632] Chr20:32798526 [GRCh38]
Chr20:31386332 [GRCh37]
Chr20:20q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006892.4(DNMT3B):c.*55G>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000332814] Chr20:32807958 [GRCh38]
Chr20:31395764 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*1336G>A single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000383580] Chr20:32809239 [GRCh38]
Chr20:31397045 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1996+9C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000859938]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000386422] Chr20:32800934 [GRCh38]
Chr20:31388740 [GRCh37]
Chr20:20q11.21
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006892.4(DNMT3B):c.1996+7A>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001448343]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000331788] Chr20:32800932 [GRCh38]
Chr20:31388738 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.1297+10T>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001466287]|DNMT3B-related disorder [RCV003932349]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000386529] Chr20:32795704 [GRCh38]
Chr20:31383510 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.*1350G>C single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000291628] Chr20:32809253 [GRCh38]
Chr20:31397059 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1359G>A (p.Gly453=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000958027]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000292138]|not provided [RCV004703817] Chr20:32796851 [GRCh38]
Chr20:31384657 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_006892.4(DNMT3B):c.1252+13T>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001522268]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000336725]|not provided [RCV001613106]|not specified [RCV000454795] Chr20:32795547 [GRCh38]
Chr20:31383353 [GRCh37]
Chr20:20q11.21
benign
NM_006892.4(DNMT3B):c.143-9C>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001086266]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000395142]|not provided [RCV000788164] Chr20:32781344 [GRCh38]
Chr20:31369150 [GRCh37]
Chr20:20q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006892.4(DNMT3B):c.*747C>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000396812] Chr20:32808650 [GRCh38]
Chr20:31396456 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*560C>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000298192] Chr20:32808463 [GRCh38]
Chr20:31396269 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1996+6C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000859841]|DNMT3B-related disorder [RCV003922476]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000262657]|not provided [RCV003656634] Chr20:32800931 [GRCh38]
Chr20:31388737 [GRCh37]
Chr20:20q11.21
benign|likely benign|conflicting interpretations of pathogenicity
NM_006892.4(DNMT3B):c.*443C>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000402842]|not provided [RCV004717370] Chr20:32808346 [GRCh38]
Chr20:32808346..32808347 [GRCh38]
Chr20:31396152 [GRCh37]
Chr20:31396152..31396153 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_006892.4(DNMT3B):c.904A>G (p.Met302Val) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000265593] Chr20:32791691 [GRCh38]
Chr20:31379497 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*113G>A single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000348099] Chr20:32808016 [GRCh38]
Chr20:31395822 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.115G>C (p.Glu39Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001227553]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000349798]|Inborn genetic diseases [RCV002520009] Chr20:32780438 [GRCh38]
Chr20:31368244 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.-163A>C single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000405442] Chr20:32762543 [GRCh38]
Chr20:31350349 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1035C>T (p.Ile345=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000974776]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000266595]|not provided [RCV003430859] Chr20:32792739 [GRCh38]
Chr20:31380545 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.1804G>A (p.Val602Ile) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001489754]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000305828] Chr20:32800197 [GRCh38]
Chr20:31388003 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.516C>T (p.Asp172=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002523155]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000306852] Chr20:32787313 [GRCh38]
Chr20:31375119 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.1579T>C (p.Cys527Arg) single nucleotide variant Facioscapulohumeral muscular dystrophy 4, digenic [RCV001568341] Chr20:32798548 [GRCh38]
Chr20:31386354 [GRCh37]
Chr20:20q11.21
pathogenic
NM_006892.4(DNMT3B):c.960C>A (p.Ser320Arg) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000380044] Chr20:32792664 [GRCh38]
Chr20:31380470 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*70G>A single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000382754] Chr20:32807973 [GRCh38]
Chr20:31395779 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1084G>T (p.Val362Leu) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000317127] Chr20:32793553 [GRCh38]
Chr20:31381359 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*1064del deletion Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000332672] Chr20:32808965 [GRCh38]
Chr20:31396771 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.-224C>A single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000334519] Chr20:32762482 [GRCh38]
Chr20:31350288 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*183C>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000405844] Chr20:32808086 [GRCh38]
Chr20:31395892 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2311G>A (p.Val771Ile) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000296781] Chr20:32806218 [GRCh38]
Chr20:31394024 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*577C>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000353066] Chr20:32808480 [GRCh38]
Chr20:31396286 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*90T>G single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000288490] Chr20:32807993 [GRCh38]
Chr20:31395799 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*754G>A single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000299477] Chr20:32808657 [GRCh38]
Chr20:31396463 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.-62C>G single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000299529] Chr20:32762644 [GRCh38]
Chr20:31350450 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1760-9C>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000394304] Chr20:32800144 [GRCh38]
Chr20:31387950 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*299del deletion Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000342387] Chr20:32808192 [GRCh38]
Chr20:31395998 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1860G>C (p.Gly620=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000360530] Chr20:32800253 [GRCh38]
Chr20:31388059 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1791G>A (p.Lys597=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138746] Chr20:32800184 [GRCh38]
Chr20:31387990 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*895T>C single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138860] Chr20:32808798 [GRCh38]
Chr20:31396604 [GRCh37]
Chr20:20q11.21
benign
NM_006892.4(DNMT3B):c.921+13G>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003758995]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138649] Chr20:32791721 [GRCh38]
Chr20:31379527 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.1126+15T>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002070629]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138650] Chr20:32793610 [GRCh38]
Chr20:31381416 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_006892.4(DNMT3B):c.677G>A (p.Gly226Glu) single nucleotide variant not provided [RCV000722742] Chr20:32788876 [GRCh38]
Chr20:31376682 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1858G>A (p.Gly620Arg) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001350151]|Inborn genetic diseases [RCV002535422]|not provided [RCV000735196] Chr20:32800251 [GRCh38]
Chr20:31388057 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.732G>A (p.Val244=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000538125] Chr20:32788931 [GRCh38]
Chr20:31376737 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.562dup (p.Tyr188fs) duplication not provided [RCV000413388] Chr20:32787358..32787359 [GRCh38]
Chr20:31375164..31375165 [GRCh37]
Chr20:20q11.21
pathogenic|likely pathogenic
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)x3 copy number gain See cases [RCV000448977] Chr20:24162775..31820857 [GRCh37]
Chr20:20p11.21-q11.21
likely pathogenic
NM_006892.4(DNMT3B):c.1330G>A (p.Val444Met) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001059188]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141227]|Inborn genetic diseases [RCV002525925]|not provided [RCV000479168] Chr20:32796822 [GRCh38]
Chr20:31384628 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.-6-176C>T single nucleotide variant not provided [RCV004717604]|not specified [RCV000456042] Chr20:32780142 [GRCh38]
Chr20:31367948 [GRCh37]
Chr20:20q11.21
benign
NM_006892.4(DNMT3B):c.886G>A (p.Val296Ile) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001088271]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138232]|not provided [RCV000483268] Chr20:32791673 [GRCh38]
Chr20:31379479 [GRCh37]
Chr20:20q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006892.4(DNMT3B):c.1354G>C (p.Gly452Arg) single nucleotide variant not provided [RCV000497771] Chr20:32796846 [GRCh38]
Chr20:31384652 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1957G>A (p.Asp653Asn) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000543048]|not provided [RCV000498054] Chr20:32800886 [GRCh38]
Chr20:31388692 [GRCh37]
Chr20:20q11.21
likely pathogenic|uncertain significance
NM_006892.4(DNMT3B):c.2198G>A (p.Arg733Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001230198]|not provided [RCV000498596] Chr20:32802437 [GRCh38]
Chr20:31390243 [GRCh37]
Chr20:20q11.21
likely pathogenic|uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_006892.4(DNMT3B):c.290G>A (p.Arg97His) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000636687]|Inborn genetic diseases [RCV004025478] Chr20:32784843 [GRCh38]
Chr20:31372649 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000636690]|DNMT3B-related disorder [RCV003928070]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001280986]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV003224358]|not specified [RCV001816578] Chr20:32787405 [GRCh38]
Chr20:31375211 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.580G>T (p.Asp194Tyr) single nucleotide variant Inborn genetic diseases [RCV003256714] Chr20:32787377 [GRCh38]
Chr20:31375183 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000859846]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000541530]|not provided [RCV001573975] Chr20:32795432 [GRCh38]
Chr20:31383238 [GRCh37]
Chr20:20q11.21
benign|likely benign|conflicting interpretations of pathogenicity
NM_006892.4(DNMT3B):c.1834G>T (p.Ala612Ser) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002231718] Chr20:32800227 [GRCh38]
Chr20:31388033 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.182C>T (p.Ser61Phe) single nucleotide variant Inborn genetic diseases [RCV003292143] Chr20:32781392 [GRCh38]
Chr20:31369198 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.73G>A (p.Gly25Arg) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001201367]|DNMT3B-related disorder [RCV004731002]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000636686]|Inborn genetic diseases [RCV002529854]|not provided [RCV000762341]|not specified [RCV004768489] Chr20:32780396 [GRCh38]
Chr20:31368202 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.2346A>C (p.Lys782Asn) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234514] Chr20:32806253 [GRCh38]
Chr20:31394059 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2097T>C (p.Val699=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001417492] Chr20:32801378 [GRCh38]
Chr20:31389184 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.273C>T (p.Phe91=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234000] Chr20:32784826 [GRCh38]
Chr20:31372632 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.42C>T (p.Ala14=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000636692]|DNMT3B-related disorder [RCV003945606]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141113]|not provided [RCV003736867] Chr20:32780365 [GRCh38]
Chr20:31368171 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_006892.4(DNMT3B):c.654+9G>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234001] Chr20:32787460 [GRCh38]
Chr20:31375266 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.159G>A (p.Ser53=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001439911]|DNMT3B-related disorder [RCV003953125] Chr20:32781369 [GRCh38]
Chr20:31369175 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1218C>T (p.Asn406=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000636695] Chr20:32795500 [GRCh38]
Chr20:31383306 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000636696]|DNMT3B-related disorder [RCV003937912]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141327]|not provided [RCV001702700] Chr20:32801423 [GRCh38]
Chr20:31389229 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
Single allele duplication not provided [RCV000677978] Chr20:17705775..31600738 [GRCh37]
Chr20:20p12.1-q11.21
pathogenic
NM_006892.4(DNMT3B):c.1490+8C>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003758924]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000768198]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV003224439] Chr20:32797307 [GRCh38]
Chr20:31385113 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.2301+1G>T single nucleotide variant not provided [RCV001780995] Chr20:32805408 [GRCh38]
Chr20:31393214 [GRCh37]
Chr20:20q11.21
likely pathogenic
NM_006892.4(DNMT3B):c.1208_1209delinsAT (p.Cys403Tyr) indel Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000687250] Chr20:32795490..32795491 [GRCh38]
Chr20:31383296..31383297 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.216C>T (p.Gly72=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000687252] Chr20:32784769 [GRCh38]
Chr20:31372575 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.1846G>A (p.Val616Met) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002233369] Chr20:32800239 [GRCh38]
Chr20:31388045 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.467C>T (p.Thr156Met) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000689842] Chr20:32787264 [GRCh38]
Chr20:31375070 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1538C>T (p.Ala513Val) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000702880]|not provided [RCV001572694] Chr20:32798507 [GRCh38]
Chr20:31386313 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.2281G>C (p.Glu761Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002233258]|Inborn genetic diseases [RCV002531483] Chr20:32805387 [GRCh38]
Chr20:31393193 [GRCh37]
Chr20:20q11.21
likely pathogenic|uncertain significance
NM_006892.4(DNMT3B):c.143G>A (p.Gly48Asp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000697050]|Inborn genetic diseases [RCV004619394] Chr20:32781353 [GRCh38]
Chr20:31369159 [GRCh37]
Chr20:20q11.21
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_006892.4(DNMT3B):c.2358C>T (p.Asn786=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001496279] Chr20:32806265 [GRCh38]
Chr20:31394071 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2095G>C (p.Val699Leu) single nucleotide variant not provided [RCV000762344] Chr20:32801376 [GRCh38]
Chr20:31389182 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002550616]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000990298] Chr20:32807817 [GRCh38]
Chr20:31395623 [GRCh37]
Chr20:20q11.21
pathogenic|likely pathogenic|uncertain significance
NM_006892.4(DNMT3B):c.255A>C (p.Pro85=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001460498] Chr20:32784808 [GRCh38]
Chr20:31372614 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.411C>T (p.Pro137=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000967551]|DNMT3B-related disorder [RCV003960788] Chr20:32786606 [GRCh38]
Chr20:31374412 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1297+9C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000921857]|DNMT3B-related disorder [RCV003970488] Chr20:32795703 [GRCh38]
Chr20:31383509 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.72C>T (p.Asn24=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000926793] Chr20:32780395 [GRCh38]
Chr20:31368201 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.684C>T (p.Leu228=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001422542]|DNMT3B-related disorder [RCV003942886]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138229]|not provided [RCV003432925]|not specified [RCV001818892] Chr20:32788883 [GRCh38]
Chr20:31376689 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.2121G>A (p.Lys707=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000925871] Chr20:32801402 [GRCh38]
Chr20:31389208 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.124C>T (p.Arg42Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001503172]|DNMT3B-related disorder [RCV003957976] Chr20:32780447 [GRCh38]
Chr20:31368253 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1542C>T (p.Ala514=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001869319]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001143070] Chr20:32798511 [GRCh38]
Chr20:31386317 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.162A>G (p.Arg54=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001433685] Chr20:32781372 [GRCh38]
Chr20:31369178 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1737A>G (p.Ser579=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001494390] Chr20:32799306 [GRCh38]
Chr20:31387112 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1947C>T (p.Ser649=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001475531]|DNMT3B-related disorder [RCV003923218] Chr20:32800876 [GRCh38]
Chr20:31388682 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1611G>A (p.Arg537=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002066053] Chr20:32798580 [GRCh38]
Chr20:31386386 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2035C>T (p.Leu679=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003758948] Chr20:32801316 [GRCh38]
Chr20:31389122 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.564C>T (p.Tyr188=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001471551] Chr20:32787361 [GRCh38]
Chr20:31375167 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.798T>C (p.Asp266=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002544959] Chr20:32788997 [GRCh38]
Chr20:31376803 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.655-4C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000920225] Chr20:32788850 [GRCh38]
Chr20:31376656 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2055G>A (p.Lys685=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000923803]|not provided [RCV001796315] Chr20:32801336 [GRCh38]
Chr20:31389142 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_006892.4(DNMT3B):c.132G>A (p.Pro44=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001070771]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141115] Chr20:32780455 [GRCh38]
Chr20:31368261 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.154A>C (p.Ser52Arg) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001052887] Chr20:32781364 [GRCh38]
Chr20:31369170 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.930G>C (p.Arg310Ser) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001058428]|DNMT3B-related disorder [RCV003393825] Chr20:32792634 [GRCh38]
Chr20:31380440 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.128C>T (p.Thr43Ile) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000809418]|Inborn genetic diseases [RCV003166285]|not provided [RCV001356974] Chr20:32780451 [GRCh38]
Chr20:31368257 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.39C>T (p.Asp13=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000884960] Chr20:32780362 [GRCh38]
Chr20:31368168 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.96C>T (p.Ser32=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000897541]|not provided [RCV004704286] Chr20:32780419 [GRCh38]
Chr20:31368225 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1662G>A (p.Thr554=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000931477] Chr20:32798631 [GRCh38]
Chr20:31386437 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.303A>C (p.Pro101=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001447105] Chr20:32784856 [GRCh38]
Chr20:31372662 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.66C>T (p.Leu22=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001395770]|not provided [RCV003456455] Chr20:32780389 [GRCh38]
Chr20:31368195 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1080G>A (p.Ser360=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002065909] Chr20:32793549 [GRCh38]
Chr20:31381355 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1490+9T>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000916953]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001143069] Chr20:32797308 [GRCh38]
Chr20:31385114 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.2235C>T (p.Pro745=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001472888] Chr20:32805341 [GRCh38]
Chr20:31393147 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.922-4G>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002066080] Chr20:32792622 [GRCh38]
Chr20:31380428 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.349C>T (p.His117Tyr) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001513732] Chr20:32786544 [GRCh38]
Chr20:31374350 [GRCh37]
Chr20:20q11.21
benign
NM_006892.4(DNMT3B):c.2073G>A (p.Pro691=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000980778] Chr20:32801354 [GRCh38]
Chr20:31389160 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.131C>T (p.Pro44Leu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001944943] Chr20:32780454 [GRCh38]
Chr20:31368260 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1359G>C (p.Gly453=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000916205]|not provided [RCV003432910] Chr20:32796851 [GRCh38]
Chr20:31384657 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1088G>A (p.Arg363His) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000797553]|not provided [RCV004693274] Chr20:32793557 [GRCh38]
Chr20:31381363 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1016G>T (p.Gly339Val) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000815712] Chr20:32792720 [GRCh38]
Chr20:31380526 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs) deletion Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234880]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000814474] Chr20:32806255..32806256 [GRCh38]
Chr20:31394061..31394062 [GRCh37]
Chr20:20q11.21
pathogenic|likely pathogenic
NM_006892.4(DNMT3B):c.1598A>G (p.His533Arg) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234217] Chr20:32798567 [GRCh38]
Chr20:31386373 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2139C>T (p.Phe713=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001445320] Chr20:32801420 [GRCh38]
Chr20:31389226 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2242G>A (p.Ala748Thr) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234363] Chr20:32805348 [GRCh38]
Chr20:31393154 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001244027]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000985130]|not specified [RCV003489986] Chr20:32796829 [GRCh38]
Chr20:31384635 [GRCh37]
Chr20:20q11.21
likely pathogenic|uncertain significance
NM_006892.4(DNMT3B):c.1882G>A (p.Val628Met) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234821] Chr20:32800275 [GRCh38]
Chr20:31388081 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.584G>A (p.Ser195Asn) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002235787] Chr20:32787381 [GRCh38]
Chr20:31375187 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1378-3C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234721] Chr20:32797184 [GRCh38]
Chr20:31384990 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.331G>A (p.Val111Ile) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234839] Chr20:32786526 [GRCh38]
Chr20:31374332 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1586C>T (p.Pro529Leu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000796983]|Inborn genetic diseases [RCV003258974] Chr20:32798555 [GRCh38]
Chr20:31386361 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1610G>A (p.Arg537Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000797245] Chr20:32798579 [GRCh38]
Chr20:31386385 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.254C>T (p.Pro85Leu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002235410] Chr20:32784807 [GRCh38]
Chr20:31372613 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1591C>T (p.Arg531Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002233822]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000791858]|Inborn genetic diseases [RCV003166084] Chr20:32798560 [GRCh38]
Chr20:31386366 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.476C>A (p.Pro159Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002233836] Chr20:32787273 [GRCh38]
Chr20:31375079 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.810C>T (p.Ser270=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002556944]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138231] Chr20:32789009 [GRCh38]
Chr20:31376815 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.2072C>T (p.Pro691Leu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234225]|Facioscapulohumeral muscular dystrophy 4, digenic [RCV001568342] Chr20:32801353 [GRCh38]
Chr20:31389159 [GRCh37]
Chr20:20q11.21
pathogenic|uncertain significance
NM_006892.4(DNMT3B):c.1421A>G (p.Tyr474Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234835] Chr20:32797230 [GRCh38]
Chr20:31385036 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.592G>C (p.Gly198Arg) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234984] Chr20:32787389 [GRCh38]
Chr20:31375195 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1221C>T (p.Gly407=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002233818] Chr20:32795503 [GRCh38]
Chr20:31383309 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.592G>T (p.Gly198Trp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002235086]|DNMT3B-related disorder [RCV003411801]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000816745] Chr20:32787389 [GRCh38]
Chr20:31375195 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.776G>A (p.Arg259Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234959] Chr20:32788975 [GRCh38]
Chr20:31376781 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2146-6C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000919441] Chr20:32802379 [GRCh38]
Chr20:31390185 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2164G>A (p.Asp722Asn) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234268]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000795642] Chr20:32802403 [GRCh38]
Chr20:31390209 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.445C>T (p.Arg149Trp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001068113] Chr20:32787242 [GRCh38]
Chr20:31375048 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*763A>G single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138857] Chr20:32808666 [GRCh38]
Chr20:31396472 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.*765G>A single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138858] Chr20:32808668 [GRCh38]
Chr20:31396474 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1630G>A (p.Val544Met) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003758994]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138326] Chr20:32798599 [GRCh38]
Chr20:31386405 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.-264C>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138550] Chr20:32762442 [GRCh38]
Chr20:31350248 [GRCh37]
Chr20:20q11.21
uncertain significance
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3 copy number gain not provided [RCV000849735] Chr20:29833608..35087952 [GRCh37]
Chr20:20q11.21-11.23
pathogenic
NM_006892.4(DNMT3B):c.352A>G (p.Arg118Gly) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001211510] Chr20:32786547 [GRCh38]
Chr20:31374353 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2452G>T (p.Val818Leu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001227327] Chr20:32807793 [GRCh38]
Chr20:31395599 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.289C>G (p.Arg97Gly) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001239958] Chr20:32784842 [GRCh38]
Chr20:31372648 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1837G>C (p.Val613Leu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001237586] Chr20:32800230 [GRCh38]
Chr20:31388036 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1838T>C (p.Val613Ala) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001225027] Chr20:32800231 [GRCh38]
Chr20:31388037 [GRCh37]
Chr20:20q11.21
pathogenic|likely pathogenic
NM_006892.4(DNMT3B):c.1592G>A (p.Arg531His) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001217873]|Inborn genetic diseases [RCV002562439] Chr20:32798561 [GRCh38]
Chr20:31386367 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1136C>T (p.Thr379Ile) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001221218] Chr20:32795418 [GRCh38]
Chr20:31383224 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1087C>T (p.Arg363Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001215056]|not provided [RCV001528537] Chr20:32793556 [GRCh38]
Chr20:31381362 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.145C>T (p.Arg49Ter) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001221994] Chr20:32781355 [GRCh38]
Chr20:31369161 [GRCh37]
Chr20:20q11.21
pathogenic
NM_006892.4(DNMT3B):c.505G>A (p.Asp169Asn) single nucleotide variant Inborn genetic diseases [RCV003251834] Chr20:32787302 [GRCh38]
Chr20:31375108 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.307-15C>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002070719]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001142963] Chr20:32786487 [GRCh38]
Chr20:31374293 [GRCh37]
Chr20:20q11.21
benign|uncertain significance
NM_006892.4(DNMT3B):c.1376G>A (p.Arg459Gln) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001143068]|Inborn genetic diseases [RCV004619524] Chr20:32796868 [GRCh38]
Chr20:31384674 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*312C>G single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001136611] Chr20:32808215 [GRCh38]
Chr20:31396021 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2184T>C (p.Ala728=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141329] Chr20:32802423 [GRCh38]
Chr20:31390229 [GRCh37]
Chr20:20q11.21
uncertain significance
NC_000020.10:g.(?_30795725)_(31395729_?)dup duplication Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001032627] Chr20:30795725..31395729 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1895C>T (p.Thr632Ile) single nucleotide variant Inborn genetic diseases [RCV003291064] Chr20:32800288 [GRCh38]
Chr20:31388094 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1072A>G (p.Asn358Asp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003104266] Chr20:32793541 [GRCh38]
Chr20:31381347 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.973T>C (p.Leu325=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000973809] Chr20:32792677 [GRCh38]
Chr20:31380483 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.142+7G>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002065502] Chr20:32780472 [GRCh38]
Chr20:31368278 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1509C>T (p.Cys503=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000887908] Chr20:32798478 [GRCh38]
Chr20:31386284 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1620G>A (p.Lys540=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002065517]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138325] Chr20:32798589 [GRCh38]
Chr20:31386395 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.459G>A (p.Ser153=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000972189]|not provided [RCV004704385] Chr20:32787256 [GRCh38]
Chr20:31375062 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1155C>T (p.Asp385=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001500562] Chr20:32795437 [GRCh38]
Chr20:31383243 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.813+8C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000888211]|DNMT3B-related disorder [RCV003968082] Chr20:32789020 [GRCh38]
Chr20:31376826 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.408C>T (p.Ser136=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000908100]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001142965] Chr20:32786603 [GRCh38]
Chr20:31374409 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.1182C>T (p.Pro394=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001413604] Chr20:32795464 [GRCh38]
Chr20:31383270 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1377+10_1377+12del microsatellite Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000927159] Chr20:32796875..32796877 [GRCh38]
Chr20:31384681..31384683 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.365G>A (p.Arg122His) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001242745]|Inborn genetic diseases [RCV004034729] Chr20:32786560 [GRCh38]
Chr20:31374366 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1760-6_1760-5inv inversion Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001244816]|Inborn genetic diseases [RCV002568600] Chr20:32800147..32800148 [GRCh38]
Chr20:31387953..31387954 [GRCh37]
Chr20:20q11.21
uncertain significance
GRCh37/hg19 20q11.21(chr20:31282278-31396065)x1 copy number loss not provided [RCV001007090] Chr20:31282278..31396065 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1186C>T (p.Pro396Ser) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001219472]|Inborn genetic diseases [RCV003246770] Chr20:32795468 [GRCh38]
Chr20:31383274 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.-105C>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138552] Chr20:32762601 [GRCh38]
Chr20:31350407 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.433-13C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001476879]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001142966] Chr20:32787217 [GRCh38]
Chr20:31375023 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.437T>C (p.Leu146Pro) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001142967] Chr20:32787234 [GRCh38]
Chr20:31375040 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*75C>G single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001143181] Chr20:32807978 [GRCh38]
Chr20:31395784 [GRCh37]
Chr20:20q11.21
benign
NM_006892.4(DNMT3B):c.*101G>A single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001143182] Chr20:32808004 [GRCh38]
Chr20:31395810 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*112C>A single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001143183] Chr20:32808015 [GRCh38]
Chr20:31395821 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1491-6G>A single nucleotide variant not provided [RCV000889409] Chr20:32798454 [GRCh38]
Chr20:31386260 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.720C>T (p.Pro240=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000912914]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138230] Chr20:32788919 [GRCh38]
Chr20:31376725 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.504C>T (p.Ile168=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001477761] Chr20:32787301 [GRCh38]
Chr20:31375107 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.468G>A (p.Thr156=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000934894] Chr20:32787265 [GRCh38]
Chr20:31375071 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.336C>T (p.Ser112=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000912722]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001142964]|not provided [RCV004808956] Chr20:32786531 [GRCh38]
Chr20:31374337 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_006892.4(DNMT3B):c.2529C>T (p.Phe843=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001460398]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001143180] Chr20:32807870 [GRCh38]
Chr20:31395676 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.*930G>A single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141447] Chr20:32808833 [GRCh38]
Chr20:31396639 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*1132C>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141448] Chr20:32809035 [GRCh38]
Chr20:31396841 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1868A>G (p.Lys623Arg) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001047986] Chr20:32800261 [GRCh38]
Chr20:31388067 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.583A>C (p.Ser195Arg) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001231627] Chr20:32787380 [GRCh38]
Chr20:31375186 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1758A>G (p.Thr586=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001219691] Chr20:32799327 [GRCh38]
Chr20:31387133 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.274C>T (p.Arg92Trp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001056492]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001142962] Chr20:32784827 [GRCh38]
Chr20:31372633 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1183G>A (p.Ala395Thr) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001214821] Chr20:32795465 [GRCh38]
Chr20:31383271 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.-267C>A single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138549] Chr20:32762439 [GRCh38]
Chr20:31350245 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.-212C>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138551] Chr20:32762494 [GRCh38]
Chr20:31350300 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*832T>C single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138859] Chr20:32808735 [GRCh38]
Chr20:31396541 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*654G>A single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001136613] Chr20:32808557 [GRCh38]
Chr20:31396363 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.*602C>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001136612] Chr20:32808505 [GRCh38]
Chr20:31396311 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2421-4C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003758954]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001001318] Chr20:32807758 [GRCh38]
Chr20:31395564 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.596G>A (p.Gly199Asp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001215757] Chr20:32787393 [GRCh38]
Chr20:31375199 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.-303G>A single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138120] Chr20:32762403 [GRCh38]
Chr20:31350209 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.780G>A (p.Trp260Ter) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001232126] Chr20:32788979 [GRCh38]
Chr20:31376785 [GRCh37]
Chr20:20q11.21
pathogenic
NM_006892.4(DNMT3B):c.2236G>A (p.Val746Met) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001236189]|Inborn genetic diseases [RCV002563849] Chr20:32805342 [GRCh38]
Chr20:31393148 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2243C>T (p.Ala748Val) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001058769] Chr20:32805349 [GRCh38]
Chr20:31393155 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.340C>T (p.Arg114Trp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001218211] Chr20:32786535 [GRCh38]
Chr20:31374341 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1906A>G (p.Ile636Val) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001211159]|Inborn genetic diseases [RCV002561753] Chr20:32800835 [GRCh38]
Chr20:31388641 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.364C>T (p.Arg122Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001246720] Chr20:32786559 [GRCh38]
Chr20:31374365 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.529A>G (p.Thr177Ala) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001070337] Chr20:32787326 [GRCh38]
Chr20:31375132 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.-21C>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141112] Chr20:32762685 [GRCh38]
Chr20:31350491 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.102G>A (p.Ser34=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001489726]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141114] Chr20:32780425 [GRCh38]
Chr20:31368231 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.1775A>G (p.Lys592Arg) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001063943] Chr20:32800168 [GRCh38]
Chr20:31387974 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.101C>T (p.Ser34Leu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001064075] Chr20:32780424 [GRCh38]
Chr20:31368230 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1615C>T (p.Arg539Trp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001035404] Chr20:32798584 [GRCh38]
Chr20:31386390 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.955A>T (p.Ser319Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001054118] Chr20:32792659 [GRCh38]
Chr20:31380465 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2172C>G (p.Ile724Met) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141328] Chr20:32802411 [GRCh38]
Chr20:31390217 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1873G>A (p.Val625Met) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001055867] Chr20:32800266 [GRCh38]
Chr20:31388072 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.710C>G (p.Ser237Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001210853] Chr20:32788909 [GRCh38]
Chr20:31376715 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1058C>T (p.Thr353Met) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001052137] Chr20:32792762 [GRCh38]
Chr20:31380568 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1094C>T (p.Ala365Val) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001056374]|Inborn genetic diseases [RCV003259068] Chr20:32793563 [GRCh38]
Chr20:31381369 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.539C>T (p.Thr180Met) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001882417]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138228] Chr20:32787336 [GRCh38]
Chr20:31375142 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.763A>G (p.Met255Val) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001233339] Chr20:32788962 [GRCh38]
Chr20:31376768 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.142+3G>A single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001334613] Chr20:32780468 [GRCh38]
Chr20:31368274 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2221G>A (p.Gly741Arg) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001294295] Chr20:32802460 [GRCh38]
Chr20:31390266 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1040G>T (p.Gly347Val) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001313139] Chr20:32792744 [GRCh38]
Chr20:31380550 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.814G>A (p.Val272Ile) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001332844] Chr20:32791601 [GRCh38]
Chr20:31379407 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2447C>T (p.Thr816Ile) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001889444] Chr20:32807788 [GRCh38]
Chr20:31395594 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.379C>T (p.Arg127Trp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001297381]|Inborn genetic diseases [RCV004619600] Chr20:32786574 [GRCh38]
Chr20:31374380 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.226G>A (p.Gly76Arg) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001325350] Chr20:32784779 [GRCh38]
Chr20:31372585 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.377G>C (p.Gly126Ala) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001315208] Chr20:32786572 [GRCh38]
Chr20:31374378 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1755G>A (p.Ala585=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001422934] Chr20:32799324 [GRCh38]
Chr20:31387130 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.253C>G (p.Pro85Ala) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001372505] Chr20:32784806 [GRCh38]
Chr20:31372612 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2301+3A>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001302853] Chr20:32805410 [GRCh38]
Chr20:31393216 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1446C>T (p.Cys482=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001369934] Chr20:32797255 [GRCh38]
Chr20:31385061 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.1478C>T (p.Thr493Met) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001359232] Chr20:32797287 [GRCh38]
Chr20:31385093 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.996del (p.Met332fs) deletion Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001383314] Chr20:32792700 [GRCh38]
Chr20:31380506 [GRCh37]
Chr20:20q11.21
pathogenic
NM_006892.4(DNMT3B):c.143-3C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001339740] Chr20:32781350 [GRCh38]
Chr20:31369156 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1360C>T (p.Leu454Phe) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001323830] Chr20:32796852 [GRCh38]
Chr20:31384658 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1718G>A (p.Arg573Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001371114] Chr20:32799287 [GRCh38]
Chr20:31387093 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2353A>G (p.Lys785Glu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001345917] Chr20:32806260 [GRCh38]
Chr20:31394066 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.389G>A (p.Arg130His) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001344019] Chr20:32786584 [GRCh38]
Chr20:31374390 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1749C>T (p.Gly583=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001367531] Chr20:32799318 [GRCh38]
Chr20:31387124 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2358C>A (p.Asn786Lys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001347333] Chr20:32806265 [GRCh38]
Chr20:31394071 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.560C>G (p.Pro187Arg) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001369155] Chr20:32787357 [GRCh38]
Chr20:31375163 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2477G>A (p.Arg826His) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001326921]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV004800978] Chr20:32807818 [GRCh38]
Chr20:31395624 [GRCh37]
Chr20:20q11.21
likely pathogenic|uncertain significance
NC_000020.10:g.(?_30795725)_(31395729_?)dup duplication Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001300701] Chr20:30795725..31395729 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.14C>G (p.Thr5Ser) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001347697] Chr20:32780337 [GRCh38]
Chr20:31368143 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.595G>C (p.Gly199Arg) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001318084] Chr20:32787392 [GRCh38]
Chr20:31375198 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1297+6G>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001363607]|DNMT3B-related disorder [RCV003908550]|not specified [RCV003155400] Chr20:32795700 [GRCh38]
Chr20:31383506 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.1633C>T (p.Arg545Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001363736] Chr20:32798602 [GRCh38]
Chr20:31386408 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.488G>A (p.Ser163Asn) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001324591] Chr20:32787285 [GRCh38]
Chr20:31375091 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2293A>G (p.Ile765Val) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001307328] Chr20:32805399 [GRCh38]
Chr20:31393205 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.85G>A (p.Asp29Asn) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001337280] Chr20:32780408 [GRCh38]
Chr20:31368214 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.43G>A (p.Gly15Ser) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001316619]|Inborn genetic diseases [RCV004034400] Chr20:32780366 [GRCh38]
Chr20:31368172 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.1613G>A (p.Arg538His) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001371845] Chr20:32798582 [GRCh38]
Chr20:31386388 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.935G>C (p.Arg312Pro) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001298678] Chr20:32792639 [GRCh38]
Chr20:31380445 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1011C>T (p.His337=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001494853] Chr20:32792715 [GRCh38]
Chr20:31380521 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.443G>A (p.Arg148Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001296767] Chr20:32787240 [GRCh38]
Chr20:31375046 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.307-49C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001522267]|not provided [RCV004717806] Chr20:32786453 [GRCh38]
Chr20:31374259 [GRCh37]
Chr20:20q11.21
benign
NM_006892.4(DNMT3B):c.1674+18G>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001492318] Chr20:32798661 [GRCh38]
Chr20:31386467 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1252+8T>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001492483] Chr20:32795542 [GRCh38]
Chr20:31383348 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1329C>T (p.Pro443=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001506346] Chr20:32796821 [GRCh38]
Chr20:31384627 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.691G>T (p.Gly231Ter) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001380868] Chr20:32788890 [GRCh38]
Chr20:31376696 [GRCh37]
Chr20:20q11.21
pathogenic
NC_000020.11:g.32762102T>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001522265] Chr20:32762102 [GRCh38]
Chr20:31349908 [GRCh37]
Chr20:20q11.21
benign
NM_006892.4(DNMT3B):c.2302-212T>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001522269] Chr20:32805997 [GRCh38]
Chr20:31393803 [GRCh37]
Chr20:20q11.21
benign
NM_006892.4(DNMT3B):c.1059G>A (p.Thr353=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001501388]|DNMT3B-related disorder [RCV003940875] Chr20:32792763 [GRCh38]
Chr20:31380569 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2334G>A (p.Ser778=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001485940] Chr20:32806241 [GRCh38]
Chr20:31394047 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1675-9del deletion Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001481650] Chr20:32799235 [GRCh38]
Chr20:31387041 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.696G>A (p.Lys232=) single nucleotide variant not provided [RCV001531957] Chr20:32788895 [GRCh38]
Chr20:31376701 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.433-10C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001403516] Chr20:32787220 [GRCh38]
Chr20:31375026 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.810C>A (p.Ser270=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001405327] Chr20:32789009 [GRCh38]
Chr20:31376815 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1905+9A>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001432139] Chr20:32800307 [GRCh38]
Chr20:31388113 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2532C>T (p.Ala844=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001465150] Chr20:32807873 [GRCh38]
Chr20:31395679 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2067C>T (p.Asp689=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001473382] Chr20:32801348 [GRCh38]
Chr20:31389154 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1602C>T (p.Gly534=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001502544] Chr20:32798571 [GRCh38]
Chr20:31386377 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1603G>A (p.Val535Ile) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001483775]|not provided [RCV004704611] Chr20:32798572 [GRCh38]
Chr20:31386378 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1920C>T (p.Gly640=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001523303]|not provided [RCV003312006] Chr20:32800849 [GRCh38]
Chr20:31388655 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_006892.4(DNMT3B):c.1923A>G (p.Pro641=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001523304]|not provided [RCV003312007] Chr20:32800852 [GRCh38]
Chr20:31388658 [GRCh37]
Chr20:20q11.21
benign|likely benign
NM_006892.4(DNMT3B):c.2445C>T (p.Tyr815=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001514522] Chr20:32807786 [GRCh38]
Chr20:31395592 [GRCh37]
Chr20:20q11.21
benign
NM_006892.4(DNMT3B):c.1760-17C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001522726]|not provided [RCV004717809] Chr20:32800136 [GRCh38]
Chr20:31387942 [GRCh37]
Chr20:20q11.21
benign
NM_006892.4(DNMT3B):c.2146-7C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001484409] Chr20:32802378 [GRCh38]
Chr20:31390184 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1941C>T (p.Gly647=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001506290] Chr20:32800870 [GRCh38]
Chr20:31388676 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1215C>T (p.Asn405=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001514533] Chr20:32795497 [GRCh38]
Chr20:31383303 [GRCh37]
Chr20:20q11.21
benign
NM_006892.4(DNMT3B):c.402C>T (p.Asp134=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001393134] Chr20:32786597 [GRCh38]
Chr20:31374403 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.222C>T (p.Gly74=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001398066] Chr20:32784775 [GRCh38]
Chr20:31372581 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2301+7C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001463220] Chr20:32805414 [GRCh38]
Chr20:31393220 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1872C>T (p.Tyr624=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001393574] Chr20:32800265 [GRCh38]
Chr20:31388071 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.143-22del deletion Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001522266] Chr20:32781331 [GRCh38]
Chr20:31369137 [GRCh37]
Chr20:20q11.21
benign
NM_006892.4(DNMT3B):c.1524G>A (p.Val508=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001459859] Chr20:32798493 [GRCh38]
Chr20:31386299 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1906-5_1906-4insC insertion Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001505904] Chr20:32800830..32800831 [GRCh38]
Chr20:31388636..31388637 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2506G>A (p.Val836Met) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV003987904]|not provided [RCV001780994] Chr20:32807847 [GRCh38]
Chr20:31395653 [GRCh37]
Chr20:20q11.21
likely pathogenic|uncertain significance
NM_006892.4(DNMT3B):c.1760G>A (p.Gly587Asp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001861095]|not provided [RCV001767251] Chr20:32800153 [GRCh38]
Chr20:31387959 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.814-3T>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001971043] Chr20:32791598 [GRCh38]
Chr20:31379404 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.289C>T (p.Arg97Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002045596] Chr20:32784842 [GRCh38]
Chr20:31372648 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1661C>T (p.Thr554Met) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001896917] Chr20:32798630 [GRCh38]
Chr20:31386436 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2232-3C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001915364] Chr20:32805335 [GRCh38]
Chr20:31393141 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.433-20A>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001929430] Chr20:32787210 [GRCh38]
Chr20:31375016 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.380G>A (p.Arg127Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001929104]|Inborn genetic diseases [RCV003264278] Chr20:32786575 [GRCh38]
Chr20:31374381 [GRCh37]
Chr20:20q11.21
uncertain significance
GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3 copy number gain not provided [RCV001829151] Chr20:18665879..33903216 [GRCh37]
Chr20:20p11.23-q11.22
likely pathogenic
NM_006892.4(DNMT3B):c.457T>A (p.Ser153Thr) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002023162] Chr20:32787254 [GRCh38]
Chr20:31375060 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1634G>A (p.Arg545His) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001910229] Chr20:32798603 [GRCh38]
Chr20:31386409 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2047C>T (p.Arg683Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001889628] Chr20:32801328 [GRCh38]
Chr20:31389134 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.78C>T (p.Ala26=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001947080] Chr20:32780401 [GRCh38]
Chr20:31368207 [GRCh37]
Chr20:20q11.21
likely benign
NC_000020.10:g.(?_31368130)_(31369240_?)dup duplication Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002004721] Chr20:31368130..31369240 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1195C>T (p.Leu399Phe) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001945899] Chr20:32795477 [GRCh38]
Chr20:31383283 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2116G>A (p.Asp706Asn) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002041757] Chr20:32801397 [GRCh38]
Chr20:31389203 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1406A>G (p.Tyr469Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001969448]|Inborn genetic diseases [RCV003264354] Chr20:32797215 [GRCh38]
Chr20:31385021 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.403G>A (p.Glu135Lys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002003673] Chr20:32786598 [GRCh38]
Chr20:31374404 [GRCh37]
Chr20:20q11.21
uncertain significance
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857) copy number gain not specified [RCV002052707] Chr20:24162775..31820857 [GRCh37]
Chr20:20p11.21-q11.21
likely pathogenic
NM_006892.4(DNMT3B):c.1091G>A (p.Arg364His) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001926402] Chr20:32793560 [GRCh38]
Chr20:31381366 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1489C>T (p.Arg497Trp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001928862] Chr20:32797298 [GRCh38]
Chr20:31385104 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2057A>G (p.Glu686Gly) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002007986] Chr20:32801338 [GRCh38]
Chr20:31389144 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2361A>C (p.Gln787His) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001910644] Chr20:32806268 [GRCh38]
Chr20:31394074 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.356C>T (p.Pro119Leu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001912536] Chr20:32786551 [GRCh38]
Chr20:31374357 [GRCh37]
Chr20:20q11.21
uncertain significance
GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550) copy number gain not specified [RCV002052709] Chr20:25442597..33761550 [GRCh37]
Chr20:20p11.21-q11.22
pathogenic
NM_006892.4(DNMT3B):c.2058G>C (p.Glu686Asp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001910918] Chr20:32801339 [GRCh38]
Chr20:31389145 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2263G>A (p.Glu755Lys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002036626] Chr20:32805369 [GRCh38]
Chr20:31393175 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1252+6T>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002020294] Chr20:32795540 [GRCh38]
Chr20:31383346 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1275CAA[2] (p.Asn427del) microsatellite Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001959888] Chr20:32795672..32795674 [GRCh38]
Chr20:31383478..31383480 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.197A>G (p.Tyr66Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001869881] Chr20:32781407 [GRCh38]
Chr20:31369213 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.251C>A (p.Thr84Asn) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001937643] Chr20:32784804 [GRCh38]
Chr20:31372610 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2246C>A (p.Ser749Ter) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002037908] Chr20:32805352 [GRCh38]
Chr20:31393158 [GRCh37]
Chr20:20q11.21
pathogenic
NM_006892.4(DNMT3B):c.1309T>C (p.Ser437Pro) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001921437] Chr20:32796801 [GRCh38]
Chr20:31384607 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2308A>G (p.Lys770Glu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001943612] Chr20:32806215 [GRCh38]
Chr20:31394021 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.320A>G (p.Asn107Ser) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001975503] Chr20:32786515 [GRCh38]
Chr20:31374321 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1016G>A (p.Gly339Asp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001900348]|not provided [RCV004774495] Chr20:32792720 [GRCh38]
Chr20:31380526 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.142+4G>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001919046] Chr20:32780469 [GRCh38]
Chr20:31368275 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.560C>A (p.Pro187His) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001880440] Chr20:32787357 [GRCh38]
Chr20:31375163 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2044T>G (p.Ser682Ala) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001952040] Chr20:32801325 [GRCh38]
Chr20:31389131 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.311G>A (p.Arg104Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001899576] Chr20:32786506 [GRCh38]
Chr20:31374312 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.997T>A (p.Leu333Met) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002026207] Chr20:32792701 [GRCh38]
Chr20:31380507 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1996+6C>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001974750] Chr20:32800931 [GRCh38]
Chr20:31388737 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1328C>T (p.Pro443Leu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001934663] Chr20:32796820 [GRCh38]
Chr20:31384626 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.40G>C (p.Ala14Pro) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001899008] Chr20:32780363 [GRCh38]
Chr20:31368169 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.655G>A (p.Asp219Asn) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001996072] Chr20:32788854 [GRCh38]
Chr20:31376660 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1905+6G>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001899099] Chr20:32800304 [GRCh38]
Chr20:31388110 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.619G>A (p.Ala207Thr) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001878663] Chr20:32787416 [GRCh38]
Chr20:31375222 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1582C>T (p.Leu528Phe) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001934005] Chr20:32798551 [GRCh38]
Chr20:31386357 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1155C>G (p.Asp385Glu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002031080] Chr20:32795437 [GRCh38]
Chr20:31383243 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.724A>C (p.Met242Leu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001922592] Chr20:32788923 [GRCh38]
Chr20:31376729 [GRCh37]
Chr20:20q11.21
uncertain significance
NC_000020.10:g.(?_31189994)_(34287210_?)del deletion not provided [RCV001956104] Chr20:31189994..34287210 [GRCh37]
Chr20:20q11.21-11.22
pathogenic
NM_006892.4(DNMT3B):c.1353G>A (p.Glu451=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001934159]|DNMT3B-related disorder [RCV003948834] Chr20:32796845 [GRCh38]
Chr20:31384651 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.317G>A (p.Arg106Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002019072] Chr20:32786512 [GRCh38]
Chr20:31374318 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1327C>G (p.Pro443Ala) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001989063] Chr20:32796819 [GRCh38]
Chr20:31384625 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.242G>C (p.Gly81Ala) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001991984] Chr20:32784795 [GRCh38]
Chr20:31372601 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1131C>G (p.Asn377Lys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002012766] Chr20:32795413 [GRCh38]
Chr20:31383219 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1996+16T>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001959092] Chr20:32800941 [GRCh38]
Chr20:31388747 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1975C>A (p.Pro659Thr) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001994322] Chr20:32800904 [GRCh38]
Chr20:31388710 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.275G>A (p.Arg92Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001923978] Chr20:32784828 [GRCh38]
Chr20:31372634 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.67G>A (p.Val23Ile) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001925180] Chr20:32780390 [GRCh38]
Chr20:31368196 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1796G>A (p.Gly599Glu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001981152] Chr20:32800189 [GRCh38]
Chr20:31387995 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1753G>A (p.Ala585Thr) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001953938]|not specified [RCV004690201] Chr20:32799322 [GRCh38]
Chr20:31387128 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1079C>T (p.Ser360Leu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002033002] Chr20:32793548 [GRCh38]
Chr20:31381354 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2032CTG[1] (p.Leu679del) microsatellite Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002009890] Chr20:32801313..32801315 [GRCh38]
Chr20:31389119..31389121 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2231+5C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002014699] Chr20:32802475 [GRCh38]
Chr20:31390281 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1491-4C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002111845] Chr20:32798456 [GRCh38]
Chr20:31386262 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2460C>T (p.Asn820=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002084761] Chr20:32807801 [GRCh38]
Chr20:31395607 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.567C>T (p.Ala189=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002145754] Chr20:32787364 [GRCh38]
Chr20:31375170 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.205-9C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002167235] Chr20:32784749 [GRCh38]
Chr20:31372555 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1587G>A (p.Pro529=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002130119] Chr20:32798556 [GRCh38]
Chr20:31386362 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2420+10G>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002148817] Chr20:32806337 [GRCh38]
Chr20:31394143 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.396T>C (p.His132=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002192599] Chr20:32786591 [GRCh38]
Chr20:31374397 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1674+17C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002169836] Chr20:32798660 [GRCh38]
Chr20:31386466 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1167C>T (p.Thr389=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002168032] Chr20:32795449 [GRCh38]
Chr20:31383255 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1067-20_1067-17del deletion Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002104526] Chr20:32793516..32793519 [GRCh38]
Chr20:31381322..31381325 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1164C>G (p.Ala388=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002087620] Chr20:32795446 [GRCh38]
Chr20:31383252 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1297+14C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002110293] Chr20:32795708 [GRCh38]
Chr20:31383514 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.814-4T>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002145700] Chr20:32791597 [GRCh38]
Chr20:31379403 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2451C>T (p.Asp817=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002208960] Chr20:32807792 [GRCh38]
Chr20:31395598 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2467C>G (p.Arg823Gly) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV002244166] Chr20:32807808 [GRCh38]
Chr20:31395614 [GRCh37]
Chr20:20q11.21
likely pathogenic
NM_006892.4(DNMT3B):c.513A>G (p.Thr171=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002129106] Chr20:32787310 [GRCh38]
Chr20:31375116 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2420+10G>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002167438] Chr20:32806337 [GRCh38]
Chr20:31394143 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.225C>T (p.Asp75=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002085099] Chr20:32784778 [GRCh38]
Chr20:31372584 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1416T>C (p.Asp472=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002124343] Chr20:32797225 [GRCh38]
Chr20:31385031 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1854C>T (p.His618=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002111859] Chr20:32800247 [GRCh38]
Chr20:31388053 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1298-20C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002174751] Chr20:32796770 [GRCh38]
Chr20:31384576 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1759+11G>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002096721] Chr20:32799339 [GRCh38]
Chr20:31387145 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.252C>T (p.Thr84=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002150888] Chr20:32784805 [GRCh38]
Chr20:31372611 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1906-11C>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002126193] Chr20:32800824 [GRCh38]
Chr20:31388630 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.609G>A (p.Pro203=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002130681] Chr20:32787406 [GRCh38]
Chr20:31375212 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1350T>C (p.Phe450=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002094676] Chr20:32796842 [GRCh38]
Chr20:31384648 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1997-15C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002216308] Chr20:32801263 [GRCh38]
Chr20:31389069 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1139G>A (p.Arg380Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003089108]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV002210917] Chr20:32795421 [GRCh38]
Chr20:31383227 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.204+13C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002124786] Chr20:32781427 [GRCh38]
Chr20:31369233 [GRCh37]
Chr20:20q11.21
benign
NM_006892.4(DNMT3B):c.433-7T>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002127812] Chr20:32787223 [GRCh38]
Chr20:31375029 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2421-7C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002211771] Chr20:32807755 [GRCh38]
Chr20:31395561 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1906-16T>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002194527] Chr20:32800819 [GRCh38]
Chr20:31388625 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1066+16C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002087496] Chr20:32792786 [GRCh38]
Chr20:31380592 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2313A>G (p.Val771=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002077486] Chr20:32806220 [GRCh38]
Chr20:31394026 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.655-16G>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002220130] Chr20:32788838 [GRCh38]
Chr20:31376644 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.357T>A (p.Pro119=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002104099] Chr20:32786552 [GRCh38]
Chr20:31374358 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1008C>T (p.Ala336=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002136224] Chr20:32792712 [GRCh38]
Chr20:31380518 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.777G>A (p.Arg259=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002120336] Chr20:32788976 [GRCh38]
Chr20:31376782 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.360C>T (p.Ser120=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002101352] Chr20:32786555 [GRCh38]
Chr20:31374361 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2301+10G>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002182874] Chr20:32805417 [GRCh38]
Chr20:31393223 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.57C>T (p.Asp19=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002104232] Chr20:32780380 [GRCh38]
Chr20:31368186 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.84C>T (p.Ser28=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002100174] Chr20:32780407 [GRCh38]
Chr20:31368213 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.432+18C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002217052] Chr20:32786645 [GRCh38]
Chr20:31374451 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.165C>G (p.Leu55=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002183789] Chr20:32781375 [GRCh38]
Chr20:31369181 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.267G>A (p.Lys89=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002155930] Chr20:32784820 [GRCh38]
Chr20:31372626 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.654+16G>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002100656] Chr20:32787467 [GRCh38]
Chr20:31375273 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.477G>A (p.Pro159=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002139753] Chr20:32787274 [GRCh38]
Chr20:31375080 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1066+19G>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002102706] Chr20:32792789 [GRCh38]
Chr20:31380595 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.537G>A (p.Gly179=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002140128] Chr20:32787334 [GRCh38]
Chr20:31375140 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.648G>A (p.Glu216=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002117553] Chr20:32787445 [GRCh38]
Chr20:31375251 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1491-7G>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002100002] Chr20:32798453 [GRCh38]
Chr20:31386259 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2361A>G (p.Gln787=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002218720] Chr20:32806268 [GRCh38]
Chr20:31394074 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1299T>C (p.Asp433=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002177592] Chr20:32796791 [GRCh38]
Chr20:31384597 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1490+9T>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002123744] Chr20:32797308 [GRCh38]
Chr20:31385114 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1752C>T (p.Ile584=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002142046] Chr20:32799321 [GRCh38]
Chr20:31387127 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1759+10G>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003110324] Chr20:32799338 [GRCh38]
Chr20:31387144 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1727G>A (p.Arg576Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003118383] Chr20:32799296 [GRCh38]
Chr20:31387102 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.647A>G (p.Glu216Gly) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003119263]|Inborn genetic diseases [RCV004245944] Chr20:32787444 [GRCh38]
Chr20:31375250 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1174T>C (p.Tyr392His) single nucleotide variant Inborn genetic diseases [RCV003275739] Chr20:32795456 [GRCh38]
Chr20:31383262 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2441A>G (p.His814Arg) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003594182]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV002281886] Chr20:32807782 [GRCh38]
Chr20:31395588 [GRCh37]
Chr20:20q11.21
likely pathogenic
NM_006892.4(DNMT3B):c.2008C>T (p.Arg670Trp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002297714] Chr20:32801289 [GRCh38]
Chr20:31389095 [GRCh37]
Chr20:20q11.21
uncertain significance
GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3 copy number gain not provided [RCV002474532] Chr20:29833535..34815537 [GRCh37]
Chr20:20q11.21-11.23
likely pathogenic
NM_006892.4(DNMT3B):c.1900A>G (p.Lys634Glu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002301477] Chr20:32800293 [GRCh38]
Chr20:31388099 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.591G>C (p.Gln197His) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002303357] Chr20:32787388 [GRCh38]
Chr20:31375194 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1425G>A (p.Gln475=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002863303] Chr20:32797234 [GRCh38]
Chr20:31385040 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.10G>C (p.Asp4His) single nucleotide variant Inborn genetic diseases [RCV002906596] Chr20:32780333 [GRCh38]
Chr20:31368139 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.433-14C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002861900] Chr20:32787216 [GRCh38]
Chr20:31375022 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.282C>G (p.Thr94=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002756343] Chr20:32784835 [GRCh38]
Chr20:31372641 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.446G>A (p.Arg149Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002756461]|Inborn genetic diseases [RCV002756462] Chr20:32787243 [GRCh38]
Chr20:31375049 [GRCh37]
Chr20:20q11.21
uncertain significance
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3 copy number gain not provided [RCV002475651] Chr20:29652122..35603726 [GRCh37]
Chr20:20q11.21-11.23
likely pathogenic
NM_006892.4(DNMT3B):c.1760-6C>G single nucleotide variant Inborn genetic diseases [RCV002840221] Chr20:32800147 [GRCh38]
Chr20:31387953 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1717_1718delinsTT (p.Arg573Leu) indel Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003015935] Chr20:32799286..32799287 [GRCh38]
Chr20:31387092..31387093 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1095A>G (p.Ala365=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002751554] Chr20:32793564 [GRCh38]
Chr20:31381370 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1760-5C>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002816695] Chr20:32800148 [GRCh38]
Chr20:31387954 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.593G>A (p.Gly198Glu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002994343] Chr20:32787390 [GRCh38]
Chr20:31375196 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1252+17T>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002726173] Chr20:32795551 [GRCh38]
Chr20:31383357 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.597C>A (p.Gly199=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002967452] Chr20:32787394 [GRCh38]
Chr20:31375200 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.407C>G (p.Ser136Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003016358] Chr20:32786602 [GRCh38]
Chr20:31374408 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1844C>A (p.Thr615Asn) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002972144] Chr20:32800237 [GRCh38]
Chr20:31388043 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.908A>T (p.Tyr303Phe) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002947695] Chr20:32791695 [GRCh38]
Chr20:31379501 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.189G>T (p.Leu63=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002694952] Chr20:32781399 [GRCh38]
Chr20:31369205 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1274C>T (p.Ala425Val) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003020739] Chr20:32795671 [GRCh38]
Chr20:31383477 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2505C>T (p.Ser835=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002590856] Chr20:32807846 [GRCh38]
Chr20:31395652 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.795C>T (p.Gly265=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002620619] Chr20:32788994 [GRCh38]
Chr20:31376800 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1302C>T (p.Gly434=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003019948] Chr20:32796794 [GRCh38]
Chr20:31384600 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1717C>T (p.Arg573Trp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002636901] Chr20:32799286 [GRCh38]
Chr20:31387092 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1712G>A (p.Arg571Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002690874] Chr20:32799281 [GRCh38]
Chr20:31387087 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1841G>A (p.Gly614Glu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002999892] Chr20:32800234 [GRCh38]
Chr20:31388040 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1297+3A>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002848014] Chr20:32795697 [GRCh38]
Chr20:31383503 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1685A>G (p.Lys562Arg) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002979132] Chr20:32799254 [GRCh38]
Chr20:31387060 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1308G>A (p.Leu436=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003002421] Chr20:32796800 [GRCh38]
Chr20:31384606 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1341C>T (p.His447=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002913093] Chr20:32796833 [GRCh38]
Chr20:31384639 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.57C>G (p.Asp19Glu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002952418] Chr20:32780380 [GRCh38]
Chr20:31368186 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.843G>A (p.Gly281=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002923075] Chr20:32791630 [GRCh38]
Chr20:31379436 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.306+18G>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002621946] Chr20:32784877 [GRCh38]
Chr20:31372683 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.142+17G>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002952639] Chr20:32780482 [GRCh38]
Chr20:31368288 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.906G>A (p.Met302Ile) single nucleotide variant Inborn genetic diseases [RCV002844185] Chr20:32791693 [GRCh38]
Chr20:31379499 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.408C>A (p.Ser136=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002867927] Chr20:32786603 [GRCh38]
Chr20:31374409 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1298-16C>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002913645] Chr20:32796774 [GRCh38]
Chr20:31384580 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1378-17T>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002621931] Chr20:32797170 [GRCh38]
Chr20:31384976 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.130C>T (p.Pro44Ser) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002958996] Chr20:32780453 [GRCh38]
Chr20:31368259 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1694C>G (p.Pro565Arg) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003025569] Chr20:32799263 [GRCh38]
Chr20:31387069 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2466C>T (p.Gly822=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003025570] Chr20:32807807 [GRCh38]
Chr20:31395613 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.134A>C (p.Glu45Ala) single nucleotide variant Inborn genetic diseases [RCV002853670] Chr20:32780457 [GRCh38]
Chr20:31368263 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.785A>G (p.Gln262Arg) single nucleotide variant Inborn genetic diseases [RCV002804785] Chr20:32788984 [GRCh38]
Chr20:31376790 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2490G>T (p.Leu830=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002805496] Chr20:32807831 [GRCh38]
Chr20:31395637 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.644C>T (p.Ser215Leu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002593522] Chr20:32787441 [GRCh38]
Chr20:31375247 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2340G>A (p.Ser780=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002932481] Chr20:32806247 [GRCh38]
Chr20:31394053 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1629C>T (p.Asn543=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002594055] Chr20:32798598 [GRCh38]
Chr20:31386404 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1378-15C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002710226] Chr20:32797172 [GRCh38]
Chr20:31384978 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1047A>G (p.Lys349=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002872747] Chr20:32792751 [GRCh38]
Chr20:31380557 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.758A>G (p.Gln253Arg) single nucleotide variant Inborn genetic diseases [RCV002874785] Chr20:32788957 [GRCh38]
Chr20:31376763 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2163T>A (p.Ile721=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003006044] Chr20:32802402 [GRCh38]
Chr20:31390208 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.739A>G (p.Lys247Glu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002985630] Chr20:32788938 [GRCh38]
Chr20:31376744 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1675-9A>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002624085] Chr20:32799235 [GRCh38]
Chr20:31387041 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1992G>A (p.Leu664=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002932480] Chr20:32800921 [GRCh38]
Chr20:31388727 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.433-9T>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002625944] Chr20:32787221 [GRCh38]
Chr20:31375027 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.655-8T>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002894229] Chr20:32788846 [GRCh38]
Chr20:31376652 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.625A>G (p.Ser209Gly) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003058069] Chr20:32787422 [GRCh38]
Chr20:31375228 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1737A>C (p.Ser579=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003040016] Chr20:32799306 [GRCh38]
Chr20:31387112 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2421-12C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002624672] Chr20:32807750 [GRCh38]
Chr20:31395556 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.432+12A>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002852376] Chr20:32786639 [GRCh38]
Chr20:31374445 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.60G>A (p.Ser20=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002643685] Chr20:32780383 [GRCh38]
Chr20:31368189 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1754C>T (p.Ala585Val) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002651308] Chr20:32799323 [GRCh38]
Chr20:31387129 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1039G>A (p.Gly347Ser) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003048335] Chr20:32792743 [GRCh38]
Chr20:31380549 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2238G>A (p.Val746=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002770114] Chr20:32805344 [GRCh38]
Chr20:31393150 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.921+5C>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002938740] Chr20:32791713 [GRCh38]
Chr20:31379519 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.412G>T (p.Val138Leu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002632070] Chr20:32786607 [GRCh38]
Chr20:31374413 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.568C>T (p.Arg190Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002967313]|DNMT3B-related disorder [RCV003418683]|Inborn genetic diseases [RCV002967314] Chr20:32787365 [GRCh38]
Chr20:31375171 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2340G>T (p.Ser780=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003031559] Chr20:32806247 [GRCh38]
Chr20:31394053 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1537G>T (p.Ala513Ser) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002807290] Chr20:32798506 [GRCh38]
Chr20:31386312 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.30A>G (p.Gly10=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002599123] Chr20:32780353 [GRCh38]
Chr20:31368159 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2459A>G (p.Asn820Ser) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002716025] Chr20:32807800 [GRCh38]
Chr20:31395606 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1700T>C (p.Ile567Thr) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003029411] Chr20:32799269 [GRCh38]
Chr20:31387075 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1166C>A (p.Thr389Asn) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002834939] Chr20:32795448 [GRCh38]
Chr20:31383254 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1377+16_1377+18del microsatellite Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002628829] Chr20:32796880..32796882 [GRCh38]
Chr20:31384686..31384688 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.300C>T (p.Ser100=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003063134] Chr20:32784853 [GRCh38]
Chr20:31372659 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.813+8C>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002791629] Chr20:32789020 [GRCh38]
Chr20:31376826 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.775C>T (p.Arg259Trp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002577225] Chr20:32788974 [GRCh38]
Chr20:31376780 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1109T>C (p.Leu370Ser) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002966348] Chr20:32793578 [GRCh38]
Chr20:31381384 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.534T>C (p.His178=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003008477] Chr20:32787331 [GRCh38]
Chr20:31375137 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.306+20G>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002627493] Chr20:32784879 [GRCh38]
Chr20:31372685 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1489C>G (p.Arg497Gly) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003011578] Chr20:32797298 [GRCh38]
Chr20:31385104 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2420+23_2420+24del microsatellite Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002628510] Chr20:32806347..32806348 [GRCh38]
Chr20:31394153..31394154 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1297+5C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002966136]|DNMT3B-related disorder [RCV003963487] Chr20:32795699 [GRCh38]
Chr20:31383505 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.399G>C (p.Val133=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002810677] Chr20:32786594 [GRCh38]
Chr20:31374400 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1325A>G (p.Asn442Ser) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003047743] Chr20:32796817 [GRCh38]
Chr20:31384623 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1664G>T (p.Gly555Val) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002650332]|Inborn genetic diseases [RCV002650331] Chr20:32798633 [GRCh38]
Chr20:31386439 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.768T>C (p.Ser256=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002962739] Chr20:32788967 [GRCh38]
Chr20:31376773 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.931G>C (p.Val311Leu) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002675592] Chr20:32792635 [GRCh38]
Chr20:31380441 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.442C>T (p.Arg148Trp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003087789]|Inborn genetic diseases [RCV003161755] Chr20:32787239 [GRCh38]
Chr20:31375045 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.205-16A>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003027124] Chr20:32784742 [GRCh38]
Chr20:31372548 [GRCh37]
Chr20:20q11.21
likely benign|uncertain significance
NM_006892.4(DNMT3B):c.873C>G (p.Thr291=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002650562] Chr20:32791660 [GRCh38]
Chr20:31379466 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1014G>A (p.Gly338=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002714862] Chr20:32792718 [GRCh38]
Chr20:31380524 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.294A>G (p.Ser98=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003068333] Chr20:32784847 [GRCh38]
Chr20:31372653 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1490G>A (p.Arg497Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002583842] Chr20:32797299 [GRCh38]
Chr20:31385105 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.374G>A (p.Arg125Gln) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002633512] Chr20:32786569 [GRCh38]
Chr20:31374375 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1626G>C (p.Trp542Cys) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003069282] Chr20:32798595 [GRCh38]
Chr20:31386401 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1479G>A (p.Thr493=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002603127] Chr20:32797288 [GRCh38]
Chr20:31385094 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1609C>T (p.Arg537Trp) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003067515]|Inborn genetic diseases [RCV003274202] Chr20:32798578 [GRCh38]
Chr20:31386384 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.301C>T (p.Pro101Ser) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003052748]|Inborn genetic diseases [RCV004070201] Chr20:32784854 [GRCh38]
Chr20:31372660 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.729G>A (p.Val243=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002634819] Chr20:32788928 [GRCh38]
Chr20:31376734 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.453A>G (p.Thr151=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003093450] Chr20:32787250 [GRCh38]
Chr20:31375056 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1705G>A (p.Ala569Thr) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003111665]|Inborn genetic diseases [RCV002722941] Chr20:32799274 [GRCh38]
Chr20:31387080 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.1817T>C (p.Val606Ala) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003050554] Chr20:32800210 [GRCh38]
Chr20:31388016 [GRCh37]
Chr20:20q11.21
pathogenic
NM_006892.4(DNMT3B):c.412G>A (p.Val138Met) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002606600] Chr20:32786607 [GRCh38]
Chr20:31374413 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2302-21_2302-20delinsGA indel Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003093585] Chr20:32806188..32806189 [GRCh38]
Chr20:31393994..31393995 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.99C>T (p.Asp33=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002612538] Chr20:32780422 [GRCh38]
Chr20:31368228 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1543G>A (p.Glu515Lys) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV003224667] Chr20:32798512 [GRCh38]
Chr20:31386318 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.765G>C (p.Met255Ile) single nucleotide variant Inborn genetic diseases [RCV003186565] Chr20:32788964 [GRCh38]
Chr20:31376770 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2291G>A (p.Arg764Lys) single nucleotide variant not provided [RCV003146811] Chr20:32805397 [GRCh38]
Chr20:31393203 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.2262_2267del (p.Glu755_Leu756del) deletion Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV003140596] Chr20:32805366..32805371 [GRCh38]
Chr20:31393172..31393177 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.178G>A (p.Val60Met) single nucleotide variant not provided [RCV003146812] Chr20:32781388 [GRCh38]
Chr20:31369194 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.407C>T (p.Ser136Phe) single nucleotide variant Inborn genetic diseases [RCV003363887] Chr20:32786602 [GRCh38]
Chr20:31374408 [GRCh37]
Chr20:20q11.21
uncertain significance
NM_006892.4(DNMT3B):c.433-8G>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003875411] Chr20:32787222 [GRCh38]
Chr20:31375028 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.45C>T (p.Gly15=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003873919] Chr20:32780368 [GRCh38]
Chr20:31368174 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.654+11G>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003872725] Chr20:32787462 [GRCh38]
Chr20:31375268 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1767A>C (p.Leu589=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003825855] Chr20:32800160 [GRCh38]
Chr20:31387966 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1674+9C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003881388] Chr20:32798652 [GRCh38]
Chr20:31386458 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.143-5T>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003849031] Chr20:32781348 [GRCh38]
Chr20:31369154 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1845C>T (p.Thr615=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003831736] Chr20:32800238 [GRCh38]
Chr20:31388044 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1067-15T>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003831641] Chr20:32793521 [GRCh38]
Chr20:31381327 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1996+14T>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003879634] Chr20:32800939 [GRCh38]
Chr20:31388745 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2004A>G (p.Thr668=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003877128] Chr20:32801285 [GRCh38]
Chr20:31389091 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1609C>A (p.Arg537=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003877826] Chr20:32798578 [GRCh38]
Chr20:31386384 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.205-6A>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003875851] Chr20:32784752 [GRCh38]
Chr20:31372558 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2214C>T (p.Asn738=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003876347] Chr20:32802453 [GRCh38]
Chr20:31390259 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1759+9G>A single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003876697] Chr20:32799337 [GRCh38]
Chr20:31387143 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.183C>T (p.Ser61=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003878880] Chr20:32781393 [GRCh38]
Chr20:31369199 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.654+1G>C single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003595050] Chr20:32787452 [GRCh38]
Chr20:31375258 [GRCh37]
Chr20:20q11.21
likely pathogenic
NM_006892.4(DNMT3B):c.432+8C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003593514] Chr20:32786635 [GRCh38]
Chr20:31374441 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.838C>T (p.Leu280=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003593679] Chr20:32791625 [GRCh38]
Chr20:31379431 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.433-16G>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003595024] Chr20:32787214 [GRCh38]
Chr20:31375020 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2235C>G (p.Pro745=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003595085] Chr20:32805341 [GRCh38]
Chr20:31393147 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.858C>T (p.His286=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003593812] Chr20:32791645 [GRCh38]
Chr20:31379451 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1297+9C>G single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003593811] Chr20:32795703 [GRCh38]
Chr20:31383509 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1407T>C (p.Tyr469=) single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003593665] Chr20:32797216 [GRCh38]
Chr20:31385022 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.2420+14C>T single nucleotide variant Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003595274] Chr20:32806341 [GRCh38]
Chr20:31394147 [GRCh37]
Chr20:20q11.21
likely benign
NM_006892.4(DNMT3B):c.1803C>T (p.Tyr601=) single nucleoti