SMAD2 (SMAD family member 2) - Rat Genome Database

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Gene: SMAD2 (SMAD family member 2) Homo sapiens
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Symbol: SMAD2
Name: SMAD family member 2
RGD ID: 1347299
HGNC Page HGNC:6768
Description: Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; SMAD binding activity; and enzyme binding activity. Contributes to DNA binding activity and DNA-binding transcription factor activity. Involved in several processes, including regulation of DNA-templated transcription; regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and transforming growth factor beta receptor superfamily signaling pathway. Acts upstream of or within SMAD protein signal transduction. Located in homomeric SMAD protein complex and nucleus. Part of activin responsive factor complex; chromatin; and heteromeric SMAD protein complex. Implicated in Loeys-Dietz syndrome; Lynch syndrome; cervical cancer; and ovarian cancer. Biomarker of breast carcinoma; female reproductive organ cancer (multiple); idiopathic pulmonary fibrosis; pancreatic cancer (multiple); and renal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CHTD8; hMAD-2; hSMAD2; JV18; JV18-1; LDS6; MAD homolog 2; Mad protein homolog; MAD, mothers against decapentaplegic homolog 2; Mad-related protein 2; MADH2; MADR2; MGC22139; MGC34440; mother against DPP homolog 2; mothers against decapentaplegic homolog 2; mothers against DPP homolog 2; Sma- and Mad-related protein 2; SMAD 2; SMAD, mothers against DPP homolog 2; smad, mothers against dpp homolog 2 (drosophila)
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
GRCh381847,808,957 - 47,930,872 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1847,808,957 - 47,931,146 (-)EnsemblGRCh38hg38GRCh38
GRCh371845,335,328 - 45,457,243 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361843,613,464 - 43,711,510 (-)NCBINCBI36Build 36hg18NCBI36
Build 341843,618,434 - 43,710,924NCBI
Celera1842,208,816 - 42,306,655 (-)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1842,208,822 - 42,306,925 (-)NCBIHuRef
CHM1_11845,354,416 - 45,452,506 (-)NCBICHM1_1
T2T-CHM13v2.01847,999,960 - 48,121,861 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(20S)-ginsenoside Rg3  (EXP)
(R)-lipoic acid  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
2-acetamidofluorene  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-hydroxypropanoic acid  (EXP)
2-methoxy-17beta-estradiol  (ISO)
2-methoxyethanol  (ISO)
3,4-dihydroxybenzaldehyde  (EXP)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-phenylprop-2-enal  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-nitrophenol  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (EXP)
aconitic acid  (EXP,ISO)
acteoside  (EXP)
aldehydo-D-glucosamine  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
amlodipine  (EXP)
ammonium chloride  (ISO)
Ammothamnine  (ISO)
andrographolide  (ISO)
anthocyanin  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
asbestos  (EXP)
atrazine  (EXP)
bellidifolin  (ISO)
benazepril  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
beta-aminopropionitrile  (ISO)
beta-D-glucosamine  (EXP)
bisphenol A  (EXP,ISO)
bleomycin A2  (EXP,ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
caffeine  (ISO)
camostat  (ISO)
carbofuran  (ISO)
carnosine  (ISO)
ceruletide  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (EXP)
chromium atom  (ISO)
chrysin  (ISO)
cisplatin  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (ISO)
corticosterone  (ISO)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
crocin-1  (ISO)
curcumin  (ISO)
cyclosporin A  (ISO)
cytochalasin D  (EXP)
D-glucose  (EXP,ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dibenziodolium  (ISO)
diethylstilbestrol  (ISO)
dimethyl sulfoxide  (EXP)
diminazene diaceturate  (EXP)
dioxygen  (EXP,ISO)
disodium selenite  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
enalapril  (ISO)
endosulfan  (EXP)
Enterolactone  (EXP)
entinostat  (EXP)
ethanol  (ISO)
etoposide  (EXP)
farrerol  (ISO)
folic acid  (ISO)
FR900359  (EXP)
galangin  (EXP)
genistein  (ISO)
gentamycin  (ISO)
glucose  (EXP,ISO)
heptachlor  (EXP)
hispidin  (ISO)
Honokiol  (EXP,ISO)
hyaluronic acid  (EXP)
hydrogen peroxide  (EXP)
irbesartan  (ISO)
Isoangustone A  (EXP)
isoprenaline  (ISO)
isorhamnetin  (EXP)
ivermectin  (EXP)
leptomycin B  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
LY-2157299  (ISO)
LY294002  (EXP)
melphalan  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
methyl beta-cyclodextrin  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
microcystin-LR  (EXP)
mitoxantrone  (EXP)
N(gamma)-nitro-L-arginine methyl ester  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (ISO)
nickel dichloride  (ISO)
niclosamide  (EXP)
nicotine  (ISO)
nitrofen  (ISO)
ochratoxin A  (EXP,ISO)
oridonin  (EXP)
osthole  (EXP)
ozone  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (EXP,ISO)
paricalcitol  (ISO)
patulin  (ISO)
phenobarbital  (EXP)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
phloroglucinol  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
Phyllanthin  (ISO)
platycodin D  (EXP)
procymidone  (ISO)
progesterone  (EXP,ISO)
propiconazole  (EXP)
propofol  (EXP)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
raloxifene  (EXP)
ramipril  (ISO)
resveratrol  (EXP,ISO)
rutin  (ISO)
salubrinal  (ISO)
SB 203580  (ISO)
SB 431542  (EXP,ISO)
serpentine asbestos  (EXP)
sevoflurane  (EXP)
silver(1+) nitrate  (EXP)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sodium nitrite  (ISO)
Soman  (ISO)
sorafenib  (ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tamibarotene  (EXP)
tamoxifen  (EXP)
testosterone enanthate  (ISO)
tetrachloromethane  (ISO)
tetramethylpyrazine  (ISO)
theobromine  (ISO)
theophylline  (EXP)
thioacetamide  (ISO)
Thrombin  (EXP)
tolfenamic acid  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
troglitazone  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
verapamil  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
vorinostat  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activin receptor signaling pathway  (IBA,IMP,NAS)
adrenal gland development  (IEA,ISO)
anatomical structure morphogenesis  (IBA)
anterior/posterior pattern specification  (IEA,ISO,ISS)
aortic valve morphogenesis  (IEA,ISS)
cell differentiation  (IBA)
cell fate commitment  (IEA,ISO,ISS)
cell population proliferation  (IEA,ISO)
cellular response to glucose stimulus  (IEA,ISO)
cellular response to transforming growth factor beta stimulus  (IEA,ISO)
determination of left/right asymmetry in lateral mesoderm  (IMP)
developmental growth  (IEA,ISO)
DNA-templated transcription  (NAS)
embryonic cranial skeleton morphogenesis  (IEA,ISO)
embryonic foregut morphogenesis  (IEA,ISO)
embryonic pattern specification  (IEA,ISO)
endocardial cushion morphogenesis  (IEA,ISS)
endoderm development  (IEA,ISO)
endoderm formation  (IEA,ISO)
gastrulation  (IEA,ISO,TAS)
heart development  (IEA,ISO)
in utero embryonic development  (IEA,ISO)
insulin secretion  (IEA,ISO)
intracellular signal transduction  (IEA,ISO,ISS)
lung development  (IEA,ISO)
mesoderm formation  (IEA,ISO,ISS)
negative regulation of cell population proliferation  (IEA,ISO)
negative regulation of DNA-templated transcription  (IMP)
negative regulation of gene expression  (IEA,ISO)
nodal signaling pathway  (IMP)
odontoblast differentiation  (IEA,ISS)
organ growth  (IEA,ISO)
pancreas development  (IEA,ISO)
paraxial mesoderm morphogenesis  (IEA,ISO,ISS)
pattern specification process  (IEA,ISO)
pericardium development  (IEA,ISO)
positive regulation of BMP signaling pathway  (IMP)
positive regulation of DNA-templated transcription  (IDA,IEA,IMP,ISO,ISS)
positive regulation of epithelial to mesenchymal transition  (IEA,ISS)
positive regulation of gene expression  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IBA,IDA,IEA,ISO,ISS)
post-embryonic development  (IEA,ISO)
primary miRNA processing  (TAS)
protein phosphorylation  (ISO)
pulmonary valve morphogenesis  (IEA,ISS)
regulation of DNA-templated transcription  (IEA,NAS)
regulation of gene expression  (IEA)
regulation of transforming growth factor beta receptor signaling pathway  (IMP)
response to cholesterol  (IDA)
response to glucose  (IEA,ISO)
response to transforming growth factor beta  (IEA,ISO)
secondary palate development  (IEA,ISS)
signal transduction involved in regulation of gene expression  (IEA)
SMAD protein signal transduction  (IBA,IDA,IEA,IMP)
transforming growth factor beta receptor signaling pathway  (IBA,IDA,IEA,IMP,ISO,ISS,NAS)
ureteric bud development  (IEA)
zygotic specification of dorsal/ventral axis  (IMP)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal aortic aneurysm  (IAGP)
Abnormal bleeding  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormality iris morphology  (IAGP)
Abnormality of connective tissue  (IAGP)
Adult onset  (IAGP)
Allergy  (IAGP)
Anomalous pulmonary venous return  (IAGP)
Aortic aneurysm  (IAGP)
Aortic dissection  (IAGP)
Aortic regurgitation  (IAGP)
Aortic root aneurysm  (IAGP)
Aortic tortuosity  (IAGP)
Arachnodactyly  (IAGP)
Arterial dissection  (IAGP)
Arterial tortuosity  (IAGP)
Arthralgia  (IAGP)
Ascending aortic dissection  (IAGP)
Asplenia  (IAGP)
Atrial septal defect  (IAGP)
Atypical scarring of skin  (IAGP)
Autoimmunity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Bifid uvula  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Blue sclerae  (IAGP)
Broad forehead  (IAGP)
Broad uvula  (IAGP)
Bruising susceptibility  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Cardiac arrest  (IAGP)
Cardiomegaly  (IAGP)
Carotid artery dilatation  (IAGP)
Carotid artery dissection  (IAGP)
Carotid artery tortuosity  (IAGP)
Chest pain  (IAGP)
Childhood onset  (IAGP)
Chronic fatigue  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital onset  (IAGP)
Coronary artery atherosclerosis  (IAGP)
Craniosynostosis  (IAGP)
Cutis marmorata  (IAGP)
Dermal translucency  (IAGP)
Descending aortic dissection  (IAGP)
Descending thoracic aorta aneurysm  (IAGP)
Dextrocardia  (IAGP)
Dextrotransposition of the great arteries  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Disproportionate tall stature  (IAGP)
Dolichocephaly  (IAGP)
Double outlet right ventricle  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dural ectasia  (IAGP)
Exertional dyspnea  (IAGP)
Global developmental delay  (IAGP)
Hemoptysis  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hip osteoarthritis  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypovolemia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intervertebral disk degeneration  (IAGP)
Intestinal malrotation  (IAGP)
Ischemic stroke  (IAGP)
Isomerism  (IAGP)
Joint dislocation  (IAGP)
Joint hypermobility  (IAGP)
Knee osteoarthritis  (IAGP)
Laryngomalacia  (IAGP)
Late onset  (IAGP)
Left superior vena cava draining directly to the left atrium  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Malar flattening  (IAGP)
Micrognathia  (IAGP)
Middle age onset  (IAGP)
Midface retrusion  (IAGP)
Migraine  (IAGP)
Mucoid extracellular matrix accumulation  (IAGP)
Orofacial cleft  (IAGP)
Osteoarthritis  (IAGP)
Osteochondritis dissecans  (IAGP)
Paroxysmal dyspnea  (IAGP)
Partial anomalous pulmonary venous return  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Peripheral arterial stenosis  (IAGP)
Pes planus  (IAGP)
Pneumothorax  (IAGP)
Posteriorly rotated ears  (IAGP)
Pregnancy history  (IAGP)
Pulmonic stenosis  (IAGP)
Retrognathia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Soft skin  (IAGP)
Solitary median maxillary central incisor  (IAGP)
Spontaneous pneumothorax  (IAGP)
Striae distensae  (IAGP)
Stroke  (IAGP)
Subarachnoid hemorrhage  (IAGP)
Subglottic stenosis  (IAGP)
Tall stature  (IAGP)
Thin skin  (IAGP)
Thoracic aortic aneurysm  (IAGP)
Toe syndactyly  (IAGP)
Transient ischemic attack  (IAGP)
Umbilical hernia  (IAGP)
Unbalanced atrioventricular canal defect  (IAGP)
Uterine rupture  (IAGP)
Varicose veins  (IAGP)
Vascular dilatation  (IAGP)
Ventricular hypertrophy  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral artery aneurysm  (IAGP)
Vertebral artery tortuosity  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Molecular mechanisms of TGF beta receptor-triggered signaling cascades rapidly induced by the calcineurin inhibitors cyclosporin A and FK506. Akool el-S, etal., J Immunol. 2008 Aug 15;181(4):2831-45.
2. Gene expression correlating with response to paclitaxel in ovarian carcinoma xenografts. Bani MR, etal., Mol Cancer Ther. 2004 Feb;3(2):111-21.
3. Cardioprotective role of growth/differentiation factor 1 in post-infarction left ventricular remodelling and dysfunction. Bao MW, etal., J Pathol. 2015 Jul;236(3):360-72. doi: 10.1002/path.4523. Epub 2015 Mar 30.
4. The development of a mouse model of ovarian endosalpingiosis. Bristol-Gould SK, etal., Endocrinology. 2005 Dec;146(12):5228-36. Epub 2005 Sep 1.
5. Transforming growth factor-beta pathway in human renal cell carcinoma and surrounding normal-appearing renal parenchyma. Cardillo MR, etal., Anal Quant Cytol Histol. 2001 Apr;23(2):109-17.
6. Ovarian follicle populations of the rat express TGF-beta signalling pathways. Drummond AE, etal., Mol Cell Endocrinol. 2003 Apr 28;202(1-2):53-7.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Interaction between angiotensin II and Smad proteins in fibroblasts in failing heart and in vitro. Hao J, etal., Am J Physiol Heart Circ Physiol. 2000 Dec;279(6):H3020-30.
9. [Changes in TGF-beta1/Smads signaling pathway in rats with chemical hepatocarcinogenesis]. Hua YP, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2008 Oct;28(10):1848-52.
10. Overexpression of Smad2 and colocalization with TGF-beta1 in human pancreatic cancer. Kleeff J, etal., Dig Dis Sci. 1999 Sep;44(9):1793-802.
11. Lefty1 Ameliorates Post-infarction Fibrosis by Suppressing p-Smad2 and p-ERK1/2 Signaling Pathways. Li CY, etal., J Cardiovasc Transl Res. 2021 Aug;14(4):636-646. doi: 10.1007/s12265-020-10089-2. Epub 2021 Jan 6.
12. cAMP inhibits transforming growth factor-beta-stimulated collagen synthesis via inhibition of extracellular signal-regulated kinase 1/2 and Smad signaling in cardiac fibroblasts. Liu X, etal., Mol Pharmacol. 2006 Dec;70(6):1992-2003. Epub 2006 Sep 7.
13. Loss of expression, and mutations of Smad 2 and Smad 4 in human cervical cancer. Maliekal TT, etal., Oncogene. 2003 Jul 31;22(31):4889-97.
14. TGFbeta in Cancer. Massagué J, Cell. 2008 Jul 25;134(2):215-30. doi: 10.1016/j.cell.2008.07.001.
15. Altered expression of Smad family members in injured motor neurons of rat. Okuyama N, etal., Brain Res. 2007 Feb 9;1132(1):36-41. Epub 2006 Dec 12.
16. Expression and intracellular localization of Smad proteins in human endometrial cancer. Piestrzeniewicz-Ulanska D, etal., Oncol Rep. 2003 Sep-Oct;10(5):1539-44.
17. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
18. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
19. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
21. Mutation analysis of SMAD2, SMAD3, and SMAD4 genes in hereditary non-polyposis colorectal. Roth S, etal., J Med Genet. 2000 Apr;37(4):298-300.
22. Mechanisms of TGF-beta signaling from cell membrane to the nucleus. Shi Y and Massague J, Cell. 2003 Jun 13;113(6):685-700.
23. Oncopreventive effects of theanine and theobromine on dimethylhydrazine-induced colon cancer model. Shojaei-Zarghani S, etal., Biomed Pharmacother. 2021 Feb;134:111140. doi: 10.1016/j.biopha.2020.111140. Epub 2020 Dec 24.
24. MicroRNA-323-3p inhibits cell invasion and metastasis in pancreatic ductal adenocarcinoma via direct suppression of SMAD2 and SMAD3. Wang C, etal., Oncotarget. 2016 Mar 22;7(12):14912-24. doi: 10.18632/oncotarget.7482.
25. MicroRNA-31/184 is involved in transforming growth factor-β-induced apoptosis in A549 human alveolar adenocarcinoma cells. Wang CJ, etal., Life Sci. 2020 Feb 1;242:117205. doi: 10.1016/j.lfs.2019.117205. Epub 2019 Dec 23.
26. Analysis of specific gene mutations in the transforming growth factor-beta signal transduction pathway in human ovarian cancer. Wang D, etal., Cancer Res. 2000 Aug 15;60(16):4507-12.
27. Alterations of Smad signaling in human breast carcinoma are associated with poor outcome: a tissue microarray study. Xie W, etal., Cancer Res. 2002 Jan 15;62(2):497-505.
28. TGF-beta signaling alterations and susceptibility to colorectal cancer. Xu Y and Pasche B, Hum Mol Genet. 2007 Apr 15;16 Spec No 1:R14-20.
29. Altered gene expression profile in mouse bladder cancers induced by hydroxybutyl(butyl)nitrosamine. Yao R, etal., Neoplasia. 2004 Sep-Oct;6(5):569-77.
Additional References at PubMed
PMID:8617505   PMID:8673135   PMID:8752209   PMID:8774881   PMID:8861901   PMID:8889549   PMID:8893010   PMID:8980228   PMID:9006934   PMID:9092546   PMID:9111321   PMID:9136927  
PMID:9214507   PMID:9256479   PMID:9288972   PMID:9311995   PMID:9346908   PMID:9389648   PMID:9436979   PMID:9503010   PMID:9525694   PMID:9679056   PMID:9702197   PMID:9702198  
PMID:9732876   PMID:9759503   PMID:9820171   PMID:9843199   PMID:9858566   PMID:9865696   PMID:9873005   PMID:9892009   PMID:10085121   PMID:10197981   PMID:10199400   PMID:10220381  
PMID:10400677   PMID:10420150   PMID:10485843   PMID:10497242   PMID:10531062   PMID:10531362   PMID:10549282   PMID:10575014   PMID:10615055   PMID:10647776   PMID:10678166   PMID:10708948  
PMID:10708949   PMID:10757800   PMID:10781087   PMID:10823886   PMID:10825365   PMID:10863401   PMID:10878024   PMID:10887155   PMID:10890911   PMID:10938097   PMID:11016919   PMID:11027280  
PMID:11042172   PMID:11043574   PMID:11058129   PMID:11094085   PMID:11100470   PMID:11102446   PMID:11114293   PMID:11118211   PMID:11158580   PMID:11160896   PMID:11163184   PMID:11226163  
PMID:11229886   PMID:11264182   PMID:11274206   PMID:11278302   PMID:11278756   PMID:11359933   PMID:11371641   PMID:11387212   PMID:11387330   PMID:11389444   PMID:11438668   PMID:11555647  
PMID:11691834   PMID:11779503   PMID:11804592   PMID:11879191   PMID:11927552   PMID:12000714   PMID:12023901   PMID:12034730   PMID:12034739   PMID:12097320   PMID:12105419   PMID:12150994  
PMID:12165866   PMID:12167862   PMID:12170265   PMID:12191473   PMID:12191474   PMID:12193595   PMID:12202987   PMID:12237408   PMID:12354674   PMID:12370310   PMID:12393416   PMID:12411310  
PMID:12419246   PMID:12426322   PMID:12477932   PMID:12531695   PMID:12543979   PMID:12615364   PMID:12618756   PMID:12621041   PMID:12650946   PMID:12700238   PMID:12714599   PMID:12732139  
PMID:12732634   PMID:12743038   PMID:12760775   PMID:12764135   PMID:12794086   PMID:12808092   PMID:12815042   PMID:12874272   PMID:12904571   PMID:12917407   PMID:14531804   PMID:14555988  
PMID:14612425   PMID:14612439   PMID:14691252   PMID:14699069   PMID:14701756   PMID:14702039   PMID:14727154   PMID:14728725   PMID:14729983   PMID:15009097   PMID:15066998   PMID:15084259  
PMID:15107821   PMID:15144564   PMID:15150278   PMID:15166010   PMID:15218362   PMID:15221015   PMID:15231748   PMID:15231848   PMID:15241418   PMID:15280432   PMID:15308665   PMID:15326485  
PMID:15350224   PMID:15350225   PMID:15356634   PMID:15359284   PMID:15467747   PMID:15489334   PMID:15489854   PMID:15494412   PMID:15496141   PMID:15520018   PMID:15599395   PMID:15613484  
PMID:15623506   PMID:15647271   PMID:15665291   PMID:15735739   PMID:15750622   PMID:15761148   PMID:15761153   PMID:15799969   PMID:15811425   PMID:15817471   PMID:15849193   PMID:15922743  
PMID:16007227   PMID:16027725   PMID:16055724   PMID:16087734   PMID:16109717   PMID:16146757   PMID:16179804   PMID:16200078   PMID:16224064   PMID:16253118   PMID:16260601   PMID:16322555  
PMID:16344560   PMID:16362038   PMID:16403803   PMID:16437159   PMID:16478646   PMID:16556868   PMID:16619037   PMID:16636667   PMID:16645187   PMID:16751101   PMID:16751102   PMID:16806069  
PMID:16806156   PMID:16916642   PMID:16924420   PMID:16959829   PMID:17035229   PMID:17053951   PMID:17081983   PMID:17099224   PMID:17142261   PMID:17217620   PMID:17239842   PMID:17283070  
PMID:17292623   PMID:17292826   PMID:17295676   PMID:17341133   PMID:17365852   PMID:17427197   PMID:17438144   PMID:17591695   PMID:17591701   PMID:17711623   PMID:17729405   PMID:17875924  
PMID:17878231   PMID:17927854   PMID:18003620   PMID:18082619   PMID:18166170   PMID:18210139   PMID:18215124   PMID:18223258   PMID:18263591   PMID:18268325   PMID:18334480   PMID:18393632  
PMID:18451154   PMID:18482992   PMID:18511908   PMID:18548003   PMID:18568018   PMID:18616749   PMID:18618014   PMID:18648910   PMID:18729074   PMID:18783722   PMID:18826955   PMID:18832382  
PMID:18923419   PMID:18949743   PMID:18955504   PMID:18974875   PMID:18983975   PMID:19018011   PMID:19032343   PMID:19049980   PMID:19066393   PMID:19104148   PMID:19122240   PMID:19135894  
PMID:19139564   PMID:19201832   PMID:19211612   PMID:19274049   PMID:19289081   PMID:19322201   PMID:19345189   PMID:19351817   PMID:19366699   PMID:19397700   PMID:19419955   PMID:19420158  
PMID:19421146   PMID:19429239   PMID:19453261   PMID:19558215   PMID:19580641   PMID:19620243   PMID:19688145   PMID:19751112   PMID:19819941   PMID:19822523   PMID:19827952   PMID:19914168  
PMID:19917253   PMID:19920136   PMID:19937272   PMID:19951945   PMID:20010874   PMID:20011542   PMID:20061380   PMID:20070253   PMID:20086175   PMID:20129061   PMID:20195357   PMID:20207742  
PMID:20211142   PMID:20301299   PMID:20301312   PMID:20346360   PMID:20347004   PMID:20350217   PMID:20403362   PMID:20453000   PMID:20460105   PMID:20462450   PMID:20571128   PMID:20603019  
PMID:20604712   PMID:20607798   PMID:20634891   PMID:20717921   PMID:20734064   PMID:20852387   PMID:20930144   PMID:20937913   PMID:20945383   PMID:20954112   PMID:20959473   PMID:20977504  
PMID:21036908   PMID:21052639   PMID:21068203   PMID:21081648   PMID:21095583   PMID:21106222   PMID:21110833   PMID:21145499   PMID:21149449   PMID:21170261   PMID:21258410   PMID:21297662  
PMID:21377836   PMID:21406405   PMID:21454478   PMID:21490324   PMID:21532621   PMID:21599657   PMID:21613609   PMID:21624123   PMID:21646355   PMID:21732483   PMID:21741598   PMID:21749466  
PMID:21828274   PMID:21873635   PMID:21883378   PMID:21947082   PMID:21960005   PMID:21988832   PMID:21990365   PMID:22045334   PMID:22196728   PMID:22227581   PMID:22228025   PMID:22278155  
PMID:22301403   PMID:22344298   PMID:22385658   PMID:22426647   PMID:22442258   PMID:22461896   PMID:22563507   PMID:22617150   PMID:22705205   PMID:22710166   PMID:22868198   PMID:22898364  
PMID:22935165   PMID:22995475   PMID:22999704   PMID:23077590   PMID:23139211   PMID:23246962   PMID:23259454   PMID:23295196   PMID:23297089   PMID:23414517   PMID:23419524   PMID:23508102  
PMID:23530056   PMID:23591895   PMID:23649632   PMID:23666711   PMID:23738652   PMID:23747729   PMID:23779087   PMID:23781096   PMID:23788427   PMID:23804438   PMID:23814118   PMID:23873106  
PMID:23916701   PMID:23929584   PMID:24008158   PMID:24052079   PMID:24071738   PMID:24098582   PMID:24157709   PMID:24183998   PMID:24269534   PMID:24347165   PMID:24370825   PMID:24394555  
PMID:24412244   PMID:24427302   PMID:24477908   PMID:24503541   PMID:24530353   PMID:24584437   PMID:24613014   PMID:24627487   PMID:24664294   PMID:24696849   PMID:24717670   PMID:24739390  
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PMID:25241761   PMID:25304053   PMID:25342595   PMID:25351340   PMID:25373709   PMID:25476248   PMID:25477335   PMID:25514493   PMID:25542272   PMID:25557170   PMID:25586740   PMID:25609649  
PMID:25670079   PMID:25670202   PMID:25701598   PMID:25843708   PMID:25872870   PMID:25882870   PMID:25891879   PMID:25893292   PMID:25921273   PMID:25971746   PMID:25980495   PMID:26045877  
PMID:26057631   PMID:26150340   PMID:26186194   PMID:26247899   PMID:26261569   PMID:26261683   PMID:26265084   PMID:26365350   PMID:26383977   PMID:26384307   PMID:26432290   PMID:26445225  
PMID:26455393   PMID:26496610   PMID:26555259   PMID:26608417   PMID:26647993   PMID:26674378   PMID:26680585   PMID:26708185   PMID:26733179   PMID:26782955   PMID:26802603   PMID:26873485  
PMID:26905010   PMID:26974954   PMID:26977879   PMID:26983401   PMID:26992562   PMID:27014911   PMID:27035110   PMID:27087048   PMID:27089389   PMID:27107692   PMID:27155083   PMID:27184078  
PMID:27292796   PMID:27375111   PMID:27383203   PMID:27525969   PMID:27543459   PMID:27566588   PMID:27604640   PMID:27659524   PMID:27684187   PMID:27703004   PMID:27721022   PMID:27829223  
PMID:27833918   PMID:27845895   PMID:27855376   PMID:27906099   PMID:27959430   PMID:27988204   PMID:28064277   PMID:28108300   PMID:28123053   PMID:28161325   PMID:28205554   PMID:28240243  
PMID:28283438   PMID:28346732   PMID:28349818   PMID:28370334   PMID:28375158   PMID:28415588   PMID:28423499   PMID:28443643   PMID:28465115   PMID:28468752   PMID:28514442   PMID:28557134  
PMID:28649002   PMID:28650473   PMID:28675297   PMID:28778674   PMID:28805484   PMID:28864007   PMID:28867761   PMID:28873461   PMID:28881580   PMID:28943409   PMID:29039572   PMID:29051557  
PMID:29115383   PMID:29146913   PMID:29174331   PMID:29187201   PMID:29187452   PMID:29229876   PMID:29295709   PMID:29309790   PMID:29311025   PMID:29328490   PMID:29339038   PMID:29349903  
PMID:29365054   PMID:29459360   PMID:29472550   PMID:29484419   PMID:29489750   PMID:29490279   PMID:29532880   PMID:29549584   PMID:29569474   PMID:29588413   PMID:29593326   PMID:29749497  
PMID:29924446   PMID:29955894   PMID:29967133   PMID:30001393   PMID:30060237   PMID:30157302   PMID:30201514   PMID:30282636   PMID:30321401   PMID:30365047   PMID:30365141   PMID:30401983  
PMID:30412716   PMID:30423352   PMID:30426494   PMID:30431090   PMID:30621196   PMID:30653987   PMID:30737378   PMID:30768589   PMID:30773093   PMID:30779601   PMID:30802150   PMID:30838724  
PMID:30869194   PMID:30891432   PMID:30920079   PMID:30945288   PMID:31049834   PMID:31091453   PMID:31130994   PMID:31171625   PMID:31174089   PMID:31297660   PMID:31366242   PMID:31399586  
PMID:31441592   PMID:31469179   PMID:31582430   PMID:31591477   PMID:31603255   PMID:31676288   PMID:31695131   PMID:31727370   PMID:31732152   PMID:31746388   PMID:31773690   PMID:31847284  
PMID:31932471   PMID:31953203   PMID:32071084   PMID:32102517   PMID:32127004   PMID:32226309   PMID:32281291   PMID:32296183   PMID:32323728   PMID:32345785   PMID:32371398   PMID:32402252  
PMID:32507921   PMID:32513696   PMID:32627026   PMID:32697292   PMID:32705438   PMID:32709857   PMID:32733385   PMID:32746934   PMID:32802182   PMID:32868636   PMID:32878540   PMID:32928102  
PMID:33060197   PMID:33073700   PMID:33125098   PMID:33202380   PMID:33236530   PMID:33245228   PMID:33323411   PMID:33415691   PMID:33499275   PMID:33508890   PMID:33512728   PMID:33545068  
PMID:33599951   PMID:33649832   PMID:33686420   PMID:33705863   PMID:33753495   PMID:33769459   PMID:33928727   PMID:33961781   PMID:34184075   PMID:34315543   PMID:34323647   PMID:34355836  
PMID:34369625   PMID:34432599   PMID:34463252   PMID:34576109   PMID:34632932   PMID:34655614   PMID:34727877   PMID:34751414   PMID:34773084   PMID:34785655   PMID:34855108   PMID:34969359  
PMID:34986386   PMID:35048477   PMID:35131256   PMID:35256949   PMID:35266323   PMID:35302162   PMID:35359452   PMID:35379779   PMID:35484112   PMID:35509688   PMID:35545535   PMID:35650563  
PMID:35696571   PMID:35721120   PMID:35811497   PMID:35831314   PMID:35905654   PMID:35914814   PMID:36114006   PMID:36213818   PMID:36215168   PMID:36226468   PMID:36335471   PMID:36345938  
PMID:36377587   PMID:36524216   PMID:36631456   PMID:36659830   PMID:36724073   PMID:36889311   PMID:36976175   PMID:37079240   PMID:37106379   PMID:37378449   PMID:37480123   PMID:37559090  
PMID:37739089   PMID:37755664   PMID:37762005   PMID:37772583   PMID:37904135   PMID:38383842   PMID:38411267   PMID:38495810   PMID:38789630   PMID:39037563  


Genomics

Comparative Map Data
SMAD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381847,808,957 - 47,930,872 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1847,808,957 - 47,931,146 (-)EnsemblGRCh38hg38GRCh38
GRCh371845,335,328 - 45,457,243 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361843,613,464 - 43,711,510 (-)NCBINCBI36Build 36hg18NCBI36
Build 341843,618,434 - 43,710,924NCBI
Celera1842,208,816 - 42,306,655 (-)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1842,208,822 - 42,306,925 (-)NCBIHuRef
CHM1_11845,354,416 - 45,452,506 (-)NCBICHM1_1
T2T-CHM13v2.01847,999,960 - 48,121,861 (-)NCBIT2T-CHM13v2.0
Smad2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391876,369,898 - 76,444,819 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1876,374,651 - 76,444,034 (+)EnsemblGRCm39 Ensembl
GRCm381876,241,090 - 76,311,748 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1876,241,580 - 76,310,963 (+)EnsemblGRCm38mm10GRCm38
MGSCv371876,401,579 - 76,465,385 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361876,367,290 - 76,431,096 (+)NCBIMGSCv36mm8
Celera1877,499,761 - 77,546,271 (+)NCBICelera
Cytogenetic Map18E3NCBI
cM Map1851.42NCBI
Smad2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81872,124,792 - 72,193,345 (+)NCBIGRCr8
mRatBN7.21869,849,884 - 69,918,926 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1869,850,377 - 69,912,323 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1871,959,978 - 72,021,908 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01872,629,252 - 72,691,176 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01870,485,797 - 70,547,727 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01872,550,107 - 72,612,078 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1872,550,219 - 72,612,078 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01871,672,879 - 71,735,128 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41873,180,520 - 73,241,707 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11873,253,792 - 73,314,980 (+)NCBI
Celera1868,381,756 - 68,443,610 (+)NCBICelera
Cytogenetic Map18q12.3NCBI
Smad2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540233,136,778 - 33,216,844 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540233,131,760 - 33,217,144 (-)NCBIChiLan1.0ChiLan1.0
SMAD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21765,367,623 - 65,457,402 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11851,053,093 - 51,150,005 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01841,213,001 - 41,309,902 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11844,572,213 - 44,669,008 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1844,580,905 - 44,668,530 (-)Ensemblpanpan1.1panPan2
SMAD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1743,696,883 - 43,778,063 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl743,700,445 - 43,769,983 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha743,181,631 - 43,262,778 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0743,649,238 - 43,731,066 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl743,649,269 - 43,723,505 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1743,350,952 - 43,432,066 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0743,405,083 - 43,486,241 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0743,688,637 - 43,769,813 (+)NCBIUU_Cfam_GSD_1.0
Smad2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494439,484,164 - 39,562,655 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649714,723,199 - 14,801,697 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649714,723,199 - 14,812,160 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMAD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl197,415,716 - 97,511,357 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1197,415,360 - 97,511,388 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21106,898,131 - 106,991,500 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SMAD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11833,017,138 - 33,105,320 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1833,017,492 - 33,104,606 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660507,285,525 - 7,381,371 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smad2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477811,384,769 - 11,501,078 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477811,380,656 - 11,460,566 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SMAD2
288 total Variants

Clinical Variants
<
Name Type Condition(s) Position(s) Clinical significance
NM_005901.6(SMAD2):c.995T>C (p.Ile332Thr) single nucleotide variant not provided [RCV000523517] Chr18:47848477 [GRCh38]
Chr18:45374848 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.784+1G>A single nucleotide variant Congenital heart defects, multiple types, 8, with or without heterotaxy [RCV001789751] Chr18:47851273 [GRCh38]
Chr18:45377644 [GRCh37]
Chr18:18q21.1		 pathogenic|uncertain significance
SMAD2, TRP244CYS variation CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY [RCV001789752] Chr18:18q21 pathogenic|uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-21.1(chr18:40718750-48354407)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053833]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053833]|See cases [RCV000053833] Chr18:40718750..48354407 [GRCh38]
Chr18:38298714..45880778 [GRCh37]
Chr18:36552712..44134776 [NCBI36]
Chr18:18q12.3-21.1		 pathogenic
NM_005901.6(SMAD2):c.822G>C (p.Trp274Cys) single nucleotide variant Congenital heart defects, multiple types, 8, with or without heterotaxy [RCV002292376]|not provided [RCV000122601] Chr18:47848650 [GRCh38]
Chr18:45375021 [GRCh37]
Chr18:18q21.1		 pathogenic|not provided
NM_005901.6(SMAD2):c.997+1G>A single nucleotide variant not provided [RCV000122602] Chr18:47848474 [GRCh38]
Chr18:45374845 [GRCh37]
Chr18:18q21.1		 not provided
NM_005901.6(SMAD2):c.935G>C (p.Cys312Ser) single nucleotide variant Congenital heart defects, multiple types, 8, with or without heterotaxy [RCV001789764]|Inborn genetic diseases [RCV000190697] Chr18:47848537 [GRCh38]
Chr18:45374908 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_005901.6(SMAD2):c.730+11T>A single nucleotide variant not provided [RCV001545407]|not specified [RCV003331181] Chr18:47865048 [GRCh38]
Chr18:45391419 [GRCh37]
Chr18:18q21.1		 benign|likely benign
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1		 pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1 copy number loss See cases [RCV000142696] Chr18:41722823..49043887 [GRCh38]
Chr18:39302787..46570257 [GRCh37]
Chr18:37556785..44824255 [NCBI36]
Chr18:18q12.3-21.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
Single allele single nucleotide variant Anomalous pulmonary venous return [RCV000754893] Chr18:45422938 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
NM_005901.6(SMAD2):c.544C>T (p.Arg182Ter) single nucleotide variant not provided [RCV001547464] Chr18:47868434 [GRCh38]
Chr18:45394805 [GRCh37]
Chr18:18q21.1		 pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005901.6(SMAD2):c.475G>T (p.Glu159Ter) single nucleotide variant Congenital heart defects, multiple types, 8, with or without heterotaxy [RCV001789776]|not provided [RCV000480930] Chr18:47869288 [GRCh38]
Chr18:45395659 [GRCh37]
Chr18:18q21.1		 pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
NM_005901.6(SMAD2):c.173T>A (p.Leu58Ter) single nucleotide variant not provided [RCV000494088] Chr18:47896584 [GRCh38]
Chr18:45422955 [GRCh37]
Chr18:18q21.1		 pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3 copy number gain See cases [RCV000511124] Chr18:24835114..46917217 [GRCh37]
Chr18:18q11.2-21.1		 likely benign
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
NM_005901.6(SMAD2):c.53G>A (p.Trp18Ter) single nucleotide variant not provided [RCV000578545] Chr18:47896704 [GRCh38]
Chr18:45423075 [GRCh37]
Chr18:18q21.1		 likely pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005901.6(SMAD2):c.1137C>T (p.Gly379=) single nucleotide variant Inborn genetic diseases [RCV003278220] Chr18:47845483 [GRCh38]
Chr18:45371854 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.6G>A (p.Ser2=) single nucleotide variant Inborn genetic diseases [RCV003306777]|not provided [RCV003777236] Chr18:47896751 [GRCh38]
Chr18:45423122 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.531A>G (p.Pro177=) single nucleotide variant Inborn genetic diseases [RCV003306778] Chr18:47868447 [GRCh38]
Chr18:45394818 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.773dup (p.Asn258fs) duplication Inborn genetic diseases [RCV000624525] Chr18:47851284..47851285 [GRCh38]
Chr18:45377655..45377656 [GRCh37]
Chr18:18q21.1		 pathogenic|uncertain significance
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3 copy number gain not provided [RCV000684057] Chr18:35866313..55082983 [GRCh37]
Chr18:18q12.2-21.31		 pathogenic
NM_005901.6(SMAD2):c.587A>G (p.Tyr196Cys) single nucleotide variant not provided [RCV001544637] Chr18:47868391 [GRCh38]
Chr18:45394762 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q21.1(chr18:45285683-45404603)x3 copy number gain not provided [RCV000739816] Chr18:45285683..45404603 [GRCh37]
Chr18:18q21.1		 benign
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2		 pathogenic
NM_005901.6(SMAD2):c.*93A>G single nucleotide variant not provided [RCV001533879] Chr18:47841734 [GRCh38]
Chr18:45368105 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.521-283C>G single nucleotide variant not provided [RCV001610145] Chr18:47868740 [GRCh38]
Chr18:45395111 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.162A>G (p.Lys54=) single nucleotide variant Inborn genetic diseases [RCV002400069]|not provided [RCV000939015] Chr18:47896595 [GRCh38]
Chr18:45422966 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.520+159T>A single nucleotide variant not provided [RCV001648739] Chr18:47869084 [GRCh38]
Chr18:45395455 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.521-91A>G single nucleotide variant not provided [RCV001648859] Chr18:47868548 [GRCh38]
Chr18:45394919 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.358C>T (p.Arg120Ter) single nucleotide variant not provided [RCV003239062] Chr18:47869405 [GRCh38]
Chr18:45395776 [GRCh37]
Chr18:18q21.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.1(chr18:45285683-45404934)x3 copy number gain not provided [RCV000752336] Chr18:45285683..45404934 [GRCh37]
Chr18:18q21.1		 benign
GRCh37/hg19 18q21.1(chr18:45285683-45406749)x3 copy number gain not provided [RCV000752337] Chr18:45285683..45406749 [GRCh37]
Chr18:18q21.1		 benign
GRCh37/hg19 18q21.1(chr18:45319554-45411505)x3 copy number gain not provided [RCV000752338] Chr18:45319554..45411505 [GRCh37]
Chr18:18q21.1		 benign
GRCh37/hg19 18q21.1(chr18:45360991-45404934)x3 copy number gain not provided [RCV000752339] Chr18:45360991..45404934 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.327-39del deletion not provided [RCV001679186] Chr18:47869475 [GRCh38]
Chr18:45395846 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.828G>A (p.Ser276=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003485664]|Loeys-Dietz syndrome 6 [RCV002503062]|not provided [RCV000969700]|not specified [RCV003323770] Chr18:47848644 [GRCh38]
Chr18:45375015 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.549_550insCC (p.Thr184fs) insertion not provided [RCV001009261] Chr18:47868428..47868429 [GRCh38]
Chr18:45394799..45394800 [GRCh37]
Chr18:18q21.1		 pathogenic
GRCh37/hg19 18q21.1(chr18:44619805-46854791)x3 copy number gain not provided [RCV000847739] Chr18:44619805..46854791 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1376C>T (p.Pro459Leu) single nucleotide variant not provided [RCV003313638] Chr18:47841855 [GRCh38]
Chr18:45368226 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.520+5G>A single nucleotide variant not provided [RCV001576702] Chr18:47869238 [GRCh38]
Chr18:45395609 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.785-277A>G single nucleotide variant not provided [RCV001569508] Chr18:47848964 [GRCh38]
Chr18:45375335 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.789A>G (p.Leu263=) single nucleotide variant Inborn genetic diseases [RCV002421207]|not provided [RCV001570842] Chr18:47848683 [GRCh38]
Chr18:45375054 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.-53-147A>G single nucleotide variant not provided [RCV001677331] Chr18:47896956 [GRCh38]
Chr18:45423327 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.655+93T>A single nucleotide variant not provided [RCV001695250] Chr18:47868230 [GRCh38]
Chr18:45394601 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.1281-136G>A single nucleotide variant not provided [RCV001597835] Chr18:47842086 [GRCh38]
Chr18:45368457 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.1281-317G>A single nucleotide variant not provided [RCV001561166] Chr18:47842267 [GRCh38]
Chr18:45368638 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.730+70A>G single nucleotide variant not provided [RCV001561433] Chr18:47864989 [GRCh38]
Chr18:45391360 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1281-248A>T single nucleotide variant not provided [RCV001586337] Chr18:47842198 [GRCh38]
Chr18:45368569 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1280+25A>G single nucleotide variant not provided [RCV001691419] Chr18:47845315 [GRCh38]
Chr18:45371686 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.730+184T>A single nucleotide variant not provided [RCV001565443] Chr18:47864875 [GRCh38]
Chr18:45391246 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.747A>G (p.Leu249=) single nucleotide variant Inborn genetic diseases [RCV002388591]|not provided [RCV001557918] Chr18:47851311 [GRCh38]
Chr18:45377682 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.27G>A (p.Pro9=) single nucleotide variant Inborn genetic diseases [RCV002440798]|not provided [RCV001559356]|not specified [RCV003230682] Chr18:47896730 [GRCh38]
Chr18:45423101 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.579G>A (p.Leu193=) single nucleotide variant Inborn genetic diseases [RCV002359176]|SMAD2-related disorder [RCV004551906]|not provided [RCV001559372] Chr18:47868399 [GRCh38]
Chr18:45394770 [GRCh37]
Chr18:18q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005901.6(SMAD2):c.730+74A>G single nucleotide variant not provided [RCV001585204] Chr18:47864985 [GRCh38]
Chr18:45391356 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1281-11C>A single nucleotide variant not provided [RCV001767067] Chr18:47841961 [GRCh38]
Chr18:45368332 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.327-69C>T single nucleotide variant not provided [RCV001577244] Chr18:47869505 [GRCh38]
Chr18:45395876 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.189del (p.Ala64fs) deletion not provided [RCV001567249] Chr18:47896568 [GRCh38]
Chr18:45422939 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_005901.6(SMAD2):c.997+5G>A single nucleotide variant not provided [RCV001568199] Chr18:47848470 [GRCh38]
Chr18:45374841 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1281-318C>T single nucleotide variant not provided [RCV001595337] Chr18:47842268 [GRCh38]
Chr18:45368639 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.997+18T>G single nucleotide variant not provided [RCV001563563]|not specified [RCV003323904] Chr18:47848457 [GRCh38]
Chr18:45374828 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.326+215T>G single nucleotide variant not provided [RCV001553287] Chr18:47870260 [GRCh38]
Chr18:45396631 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.785-94G>A single nucleotide variant not provided [RCV001575906] Chr18:47848781 [GRCh38]
Chr18:45375152 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.997+88T>G single nucleotide variant not provided [RCV001553449] Chr18:47848387 [GRCh38]
Chr18:45374758 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.748_754del (p.Ser250fs) deletion Loeys-Dietz syndrome 6 [RCV002471528] Chr18:47851304..47851310 [GRCh38]
Chr18:45377675..45377681 [GRCh37]
Chr18:18q21.1		 pathogenic
GRCh37/hg19 18q21.1(chr18:44867535-45445398)x3 copy number gain not provided [RCV001006978] Chr18:44867535..45445398 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 copy number gain not provided [RCV001006980] Chr18:20689919..49455212 [GRCh37]
Chr18:18q11.2-21.2		 pathogenic
NM_005901.6(SMAD2):c.521-16del deletion not provided [RCV001591546]|not specified [RCV003323908] Chr18:47868473 [GRCh38]
Chr18:45394844 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.448G>A (p.Glu150Lys) single nucleotide variant not provided [RCV001652976] Chr18:47869315 [GRCh38]
Chr18:45395686 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.730+107A>G single nucleotide variant not provided [RCV001594052] Chr18:47864952 [GRCh38]
Chr18:45391323 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.656-235A>G single nucleotide variant not provided [RCV001637904] Chr18:47865368 [GRCh38]
Chr18:45391739 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.1280+202G>A single nucleotide variant not provided [RCV001594580] Chr18:47845138 [GRCh38]
Chr18:45371509 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.730+3dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV003485726]|not provided [RCV001707463]|not specified [RCV003323918] Chr18:47865048..47865049 [GRCh38]
Chr18:45391419..45391420 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.327-40_327-39del deletion not provided [RCV001665691] Chr18:47869475..47869476 [GRCh38]
Chr18:45395846..45395847 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.785-9C>A single nucleotide variant SMAD2-related disorder [RCV004551919]|not provided [RCV001568053] Chr18:47848696 [GRCh38]
Chr18:45375067 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.327-56dup duplication not provided [RCV001649767] Chr18:47869474..47869475 [GRCh38]
Chr18:45395845..45395846 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.917C>T (p.Ser306Leu) single nucleotide variant SMAD2-congenital heart disease and multiple congenital anomaly disorder [RCV001253758] Chr18:47848555 [GRCh38]
Chr18:45374926 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.291T>A (p.Asp97Glu) single nucleotide variant Inborn genetic diseases [RCV004683965] Chr18:47870510 [GRCh38]
Chr18:45396881 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.998G>T (p.Gly333Val) single nucleotide variant Inborn genetic diseases [RCV004683966] Chr18:47845800 [GRCh38]
Chr18:45372171 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.992A>G (p.His331Arg) single nucleotide variant Inborn genetic diseases [RCV004683967] Chr18:47848480 [GRCh38]
Chr18:45374851 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1236C>T (p.Cys412=) single nucleotide variant Inborn genetic diseases [RCV004683963] Chr18:47845384 [GRCh38]
Chr18:45371755 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.785-87T>A single nucleotide variant not provided [RCV001536153] Chr18:47848774 [GRCh38]
Chr18:45375145 [GRCh37]
Chr18:18q21.1		 likely benign
NC_000018.9:g.(?_42281312)_(45423127_?)del deletion not provided [RCV004579861] Chr18:42281312..45423127 [GRCh37]
Chr18:18q12.3-21.1		 pathogenic|uncertain significance
NM_005901.6(SMAD2):c.790C>T (p.Gln264Ter) single nucleotide variant SMAD2-related disorder [RCV001270831] Chr18:47848682 [GRCh38]
Chr18:45375053 [GRCh37]
Chr18:18q21.1		 likely pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
NM_005901.6(SMAD2):c.972G>A (p.Thr324=) single nucleotide variant Inborn genetic diseases [RCV002386441]|SMAD2-related disorder [RCV004550312]|not provided [RCV001538249] Chr18:47848500 [GRCh38]
Chr18:45374871 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.660G>T (p.Thr220=) single nucleotide variant not provided [RCV001581569] Chr18:47865129 [GRCh38]
Chr18:45391500 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.731-184C>G single nucleotide variant not provided [RCV001687245] Chr18:47851511 [GRCh38]
Chr18:45377882 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.1281-266C>T single nucleotide variant not provided [RCV001538425] Chr18:47842216 [GRCh38]
Chr18:45368587 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.323C>G (p.Thr108Ser) single nucleotide variant not provided [RCV001761326] Chr18:47870478 [GRCh38]
Chr18:45396849 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.734C>G (p.Ser245Cys) single nucleotide variant not provided [RCV001763053] Chr18:47851324 [GRCh38]
Chr18:45377695 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.757A>G (p.Thr253Ala) single nucleotide variant not provided [RCV001763194] Chr18:47851301 [GRCh38]
Chr18:45377672 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1378T>A (p.Ser460Thr) single nucleotide variant Inborn genetic diseases [RCV003298987]|not provided [RCV001773160] Chr18:47841853 [GRCh38]
Chr18:45368224 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.237-12A>G single nucleotide variant Congenital heart defects, multiple types, 8, with or without heterotaxy [RCV001789799] Chr18:47870576 [GRCh38]
Chr18:45396947 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_005901.6(SMAD2):c.612dup (p.Asn205Ter) duplication Loeys-Dietz syndrome 6 [RCV001789800]|SMAD2-related disorder [RCV004552023] Chr18:47868365..47868366 [GRCh38]
Chr18:45394736..45394737 [GRCh37]
Chr18:18q21.1		 pathogenic|likely pathogenic
NM_005901.6(SMAD2):c.1385G>A (p.Arg462His) single nucleotide variant not provided [RCV001772887] Chr18:47841846 [GRCh38]
Chr18:45368217 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.594C>T (p.His198=) single nucleotide variant not provided [RCV001754254] Chr18:47868384 [GRCh38]
Chr18:45394755 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.908C>T (p.Thr303Ile) single nucleotide variant not provided [RCV001769393] Chr18:47848564 [GRCh38]
Chr18:45374935 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.727A>G (p.Thr243Ala) single nucleotide variant not provided [RCV001765559] Chr18:47865062 [GRCh38]
Chr18:45391433 [GRCh37]
Chr18:18q21.1		 uncertain significance
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005901.6(SMAD2):c.1346T>C (p.Leu449Ser) single nucleotide variant Loeys-Dietz syndrome 6 [RCV001789795] Chr18:47841885 [GRCh38]
Chr18:45368256 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_005901.6(SMAD2):c.1082A>C (p.Asn361Thr) single nucleotide variant Loeys-Dietz syndrome 6 [RCV001789801] Chr18:47845716 [GRCh38]
Chr18:45372087 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_005901.6(SMAD2):c.1369G>A (p.Gly457Arg) single nucleotide variant Loeys-Dietz syndrome 6 [RCV001789796]|not provided [RCV002544317] Chr18:47841862 [GRCh38]
Chr18:45368233 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_005901.6(SMAD2):c.1163A>G (p.Gln388Arg) single nucleotide variant Loeys-Dietz syndrome 6 [RCV001789797]|not provided [RCV003560848] Chr18:47845457 [GRCh38]
Chr18:45371828 [GRCh37]
Chr18:18q21.1		 pathogenic|uncertain significance
NM_005901.6(SMAD2):c.833C>T (p.Ala278Val) single nucleotide variant Loeys-Dietz syndrome 6 [RCV001789798]|not provided [RCV003136156] Chr18:47848639 [GRCh38]
Chr18:45375010 [GRCh37]
Chr18:18q21.1		 pathogenic|uncertain significance
NM_005901.6(SMAD2):c.941G>A (p.Gly314Asp) single nucleotide variant not provided [RCV001758128] Chr18:47848531 [GRCh38]
Chr18:45374902 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.489C>T (p.Asn163=) single nucleotide variant not provided [RCV001779658] Chr18:47869274 [GRCh38]
Chr18:45395645 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1360_1364del (p.Thr454fs) deletion not provided [RCV001970570] Chr18:47841867..47841871 [GRCh38]
Chr18:45368238..45368242 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.268C>T (p.Pro90Ser) single nucleotide variant not provided [RCV001969323] Chr18:47870533 [GRCh38]
Chr18:45396904 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.730+5A>G single nucleotide variant not provided [RCV001874633] Chr18:47865054 [GRCh38]
Chr18:45391425 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1220A>C (p.Gln407Pro) single nucleotide variant not provided [RCV001894077] Chr18:47845400 [GRCh38]
Chr18:45371771 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005901.6(SMAD2):c.389G>A (p.Arg130Gln) single nucleotide variant not provided [RCV002040989] Chr18:47869374 [GRCh38]
Chr18:45395745 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.985A>G (p.Arg329Gly) single nucleotide variant not provided [RCV001871299] Chr18:47848487 [GRCh38]
Chr18:45374858 [GRCh37]
Chr18:18q21.1		 pathogenic|uncertain significance
NM_005901.6(SMAD2):c.556A>T (p.Ile186Phe) single nucleotide variant not provided [RCV001894490] Chr18:47868422 [GRCh38]
Chr18:45394793 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.242G>T (p.Cys81Phe) single nucleotide variant Inborn genetic diseases [RCV002458902]|not provided [RCV001968695]|not specified [RCV003323964] Chr18:47870559 [GRCh38]
Chr18:45396930 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.784+6T>G single nucleotide variant not provided [RCV001968741] Chr18:47851268 [GRCh38]
Chr18:45377639 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.520+4G>A single nucleotide variant not provided [RCV001984850] Chr18:47869239 [GRCh38]
Chr18:45395610 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.363A>G (p.Lys121=) single nucleotide variant not provided [RCV001927502] Chr18:47869400 [GRCh38]
Chr18:45395771 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.634C>G (p.Pro212Ala) single nucleotide variant not provided [RCV001839127] Chr18:47868344 [GRCh38]
Chr18:45394715 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1387del (p.Cys463fs) deletion not provided [RCV002032301] Chr18:47841844 [GRCh38]
Chr18:45368215 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1384C>T (p.Arg462Cys) single nucleotide variant Loeys-Dietz syndrome 6 [RCV002267644]|not provided [RCV002034173] Chr18:47841847 [GRCh38]
Chr18:45368218 [GRCh37]
Chr18:18q21.1		 uncertain significance
NC_000018.9:g.(?_42281312)_(45423127_?)dup duplication Microcephaly, epilepsy, and diabetes syndrome [RCV001923035]|Vici syndrome [RCV001923036] Chr18:42281312..45423127 [GRCh37]
Chr18:18q12.3-21.1		 uncertain significance
NM_005901.6(SMAD2):c.55A>G (p.Lys19Glu) single nucleotide variant not provided [RCV002029002] Chr18:47896702 [GRCh38]
Chr18:45423073 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.971C>T (p.Thr324Met) single nucleotide variant Inborn genetic diseases [RCV002386673]|not provided [RCV001882065] Chr18:47848501 [GRCh38]
Chr18:45374872 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.23C>T (p.Thr8Met) single nucleotide variant not provided [RCV002027186] Chr18:47896734 [GRCh38]
Chr18:45423105 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1348G>A (p.Asp450Asn) single nucleotide variant not provided [RCV001918775] Chr18:47841883 [GRCh38]
Chr18:45368254 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.236+4A>G single nucleotide variant not provided [RCV001995581] Chr18:47896517 [GRCh38]
Chr18:45422888 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.271A>G (p.Asn91Asp) single nucleotide variant Inborn genetic diseases [RCV004041489]|not provided [RCV001898342] Chr18:47870530 [GRCh38]
Chr18:45396901 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.730+10del deletion SMAD2-related disorder [RCV004553724]|not provided [RCV002107584] Chr18:47865049 [GRCh38]
Chr18:45391420 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.1280+19G>A single nucleotide variant not provided [RCV002084946] Chr18:47845321 [GRCh38]
Chr18:45371692 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1176T>C (p.Ala392=) single nucleotide variant Inborn genetic diseases [RCV002331754]|not provided [RCV002124809] Chr18:47845444 [GRCh38]
Chr18:45371815 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.236+10G>T single nucleotide variant not provided [RCV002186127] Chr18:47896511 [GRCh38]
Chr18:45422882 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.705A>G (p.Gln235=) single nucleotide variant Inborn genetic diseases [RCV002363647]|SMAD2-related disorder [RCV004553789]|not provided [RCV002110135] Chr18:47865084 [GRCh38]
Chr18:45391455 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.327-15C>T single nucleotide variant not provided [RCV002168097] Chr18:47869451 [GRCh38]
Chr18:45395822 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.908C>G (p.Thr303Arg) single nucleotide variant Loeys-Dietz syndrome 6 [RCV002249173] Chr18:47848564 [GRCh38]
Chr18:45374935 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_005901.6(SMAD2):c.785-17A>C single nucleotide variant not provided [RCV002110582] Chr18:47848704 [GRCh38]
Chr18:45375075 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1136-13T>A single nucleotide variant not provided [RCV002126286] Chr18:47845497 [GRCh38]
Chr18:45371868 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1217A>G (p.Tyr406Cys) single nucleotide variant not provided [RCV002226124] Chr18:47845403 [GRCh38]
Chr18:45371774 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_005901.6(SMAD2):c.24G>A (p.Thr8=) single nucleotide variant Inborn genetic diseases [RCV002427561]|not provided [RCV002192381] Chr18:47896733 [GRCh38]
Chr18:45423104 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.785-18dup duplication not provided [RCV002125383]|not specified [RCV003323992] Chr18:47848704..47848705 [GRCh38]
Chr18:45375075..45375076 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.1245A>G (p.Arg415=) single nucleotide variant Inborn genetic diseases [RCV002391238]|not provided [RCV002096711] Chr18:47845375 [GRCh38]
Chr18:45371746 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1050A>G (p.Leu350=) single nucleotide variant not provided [RCV002170960] Chr18:47845748 [GRCh38]
Chr18:45372119 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.730+10A>G single nucleotide variant not provided [RCV002079128] Chr18:47865049 [GRCh38]
Chr18:45391420 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.544C>A (p.Arg182=) single nucleotide variant Inborn genetic diseases [RCV002346504]|not provided [RCV002153285] Chr18:47868434 [GRCh38]
Chr18:45394805 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.903C>T (p.Gly301=) single nucleotide variant not provided [RCV002207185] Chr18:47848569 [GRCh38]
Chr18:45374940 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.43C>T (p.Leu15=) single nucleotide variant not provided [RCV002189214] Chr18:47896714 [GRCh38]
Chr18:45423085 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.785-10dup duplication not provided [RCV002151745] Chr18:47848696..47848697 [GRCh38]
Chr18:45375067..45375068 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.1280+16T>C single nucleotide variant not provided [RCV002134314]|not specified [RCV003323998] Chr18:47845324 [GRCh38]
Chr18:45371695 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.1281-14A>G single nucleotide variant not provided [RCV002129669] Chr18:47841964 [GRCh38]
Chr18:45368335 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.784+7T>A single nucleotide variant not provided [RCV002114106]|not specified [RCV003331311] Chr18:47851267 [GRCh38]
Chr18:45377638 [GRCh37]
Chr18:18q21.1		 likely benign|uncertain significance
NM_005901.6(SMAD2):c.1136-10T>C single nucleotide variant not provided [RCV002173767] Chr18:47845494 [GRCh38]
Chr18:45371865 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.785-8T>G single nucleotide variant SMAD2-related disorder [RCV004553797]|not provided [RCV002116512] Chr18:47848695 [GRCh38]
Chr18:45375066 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.327-20T>C single nucleotide variant not provided [RCV002151337] Chr18:47869456 [GRCh38]
Chr18:45395827 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.655+14C>T single nucleotide variant not provided [RCV002179846] Chr18:47868309 [GRCh38]
Chr18:45394680 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.585C>T (p.Asp195=) single nucleotide variant not provided [RCV002155623] Chr18:47868393 [GRCh38]
Chr18:45394764 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.997+19G>A single nucleotide variant not provided [RCV002143063] Chr18:47848456 [GRCh38]
Chr18:45374827 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.785-8T>C single nucleotide variant not provided [RCV002163557] Chr18:47848695 [GRCh38]
Chr18:45375066 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.237-6G>A single nucleotide variant not provided [RCV002180556] Chr18:47870570 [GRCh38]
Chr18:45396941 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.327-11C>G single nucleotide variant not provided [RCV002100201] Chr18:47869447 [GRCh38]
Chr18:45395818 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.997+11T>C single nucleotide variant not provided [RCV002163281] Chr18:47848464 [GRCh38]
Chr18:45374835 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.6G>T (p.Ser2=) single nucleotide variant not provided [RCV002082400] Chr18:47896751 [GRCh38]
Chr18:45423122 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.997+13T>C single nucleotide variant not provided [RCV002121438] Chr18:47848462 [GRCh38]
Chr18:45374833 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.520+16G>A single nucleotide variant not provided [RCV002197809] Chr18:47869227 [GRCh38]
Chr18:45395598 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.998-18A>G single nucleotide variant not provided [RCV002139123]|not specified [RCV003331322] Chr18:47845818 [GRCh38]
Chr18:45372189 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.1032A>G (p.Glu344=) single nucleotide variant Inborn genetic diseases [RCV002391267]|not provided [RCV002141851] Chr18:47845766 [GRCh38]
Chr18:45372137 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.834A>G (p.Ala278=) single nucleotide variant not provided [RCV002163113] Chr18:47848638 [GRCh38]
Chr18:45375009 [GRCh37]
Chr18:18q21.1		 likely benign
NC_000018.9:g.(?_45368198)_(45423127_?)del deletion not provided [RCV003116450] Chr18:45368198..45423127 [GRCh37]
Chr18:18q21.1		 uncertain significance
NC_000018.9:g.(?_45368198)_(45375078_?)del deletion not provided [RCV003116451] Chr18:45368198..45375078 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1110T>C (p.Pro370=) single nucleotide variant Inborn genetic diseases [RCV004244648]|not provided [RCV003118595] Chr18:47845688 [GRCh38]
Chr18:45372059 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.356A>G (p.His119Arg) single nucleotide variant Inborn genetic diseases [RCV004683964] Chr18:47869407 [GRCh38]
Chr18:45395778 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1297A>G (p.Ser433Gly) single nucleotide variant not provided [RCV003235842] Chr18:47841934 [GRCh38]
Chr18:45368305 [GRCh37]
Chr18:18q21.1