NKX2-5 (NK2 homeobox 5) - Rat Genome Database

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Gene: NKX2-5 (NK2 homeobox 5) Homo sapiens
Analyze
Symbol: NKX2-5
Name: NK2 homeobox 5
RGD ID: 1606841
HGNC Page HGNC:2488
Description: Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Contributes to DNA-binding transcription factor activity. Involved in several processes, including adult heart development; cardiac chamber development; and regulation of transcription by RNA polymerase II. Acts upstream of or within cardiac conduction system development. Located in Nkx-2.5 complex. Part of RNA polymerase II transcription regulator complex and protein-DNA complex. Implicated in aortic valve disease 2; atrioventricular block; congenital heart disease (multiple); and congenital nongoitrous hypothyroidism 5.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cardiac-specific homeobox 1; CHNG5; CSX; CSX1; FLJ52202; FLJ97166; FLJ97195; FLJ97197; FLJ99536; HLHS2; homeobox protein CSX; homeobox protein NK-2 homolog E; homeobox protein NKX 2-5; homeobox protein Nkx-2.5; NK2 transcription factor related locus 5; NK2 transcription factor related, locus 5; NKX 2-5; NKX2.5; NKX2E; NKX4-1; tinman (Drosophila) homolog; tinman homolog; tinman paralog; VSD3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385173,232,109 - 173,235,206 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5173,232,109 - 173,235,311 (-)EnsemblGRCh38hg38GRCh38
GRCh375172,659,112 - 172,662,209 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365172,591,744 - 172,594,868 (-)NCBINCBI36Build 36hg18NCBI36
Celera5168,692,473 - 168,695,681 (-)NCBICelera
Cytogenetic Map5q35.1NCBI
HuRef5167,754,405 - 167,757,613 (-)NCBIHuRef
CHM1_15172,091,589 - 172,094,797 (-)NCBICHM1_1
T2T-CHM13v2.05173,772,181 - 173,775,278 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult heart development  (IEA,IMP,ISO)
aortic valve morphogenesis  (TAS)
apoptotic process  (IEA,ISO)
apoptotic process involved in heart morphogenesis  (IEA,ISO)
atrial cardiac muscle cell development  (ISS)
atrial cardiac muscle tissue development  (IEA,ISS)
atrial septum morphogenesis  (IMP)
atrioventricular node cell development  (IEA,ISO)
atrioventricular node cell fate commitment  (IEA,ISO)
atrioventricular node development  (IEA,ISS)
bundle of His development  (IEA,ISS)
cardiac conduction system development  (IEA,IMP)
cardiac muscle cell development  (IEA,ISS)
cardiac muscle cell differentiation  (IEA,ISO)
cardiac muscle cell proliferation  (IEA,ISO)
cardiac muscle contraction  (IEA,ISO)
cardiac muscle tissue development  (IEA,ISO)
cardiac muscle tissue morphogenesis  (IEA,IMP,ISS)
cardiac septum morphogenesis  (IEA,ISO)
cardiac ventricle formation  (IEA,ISO)
cardiac ventricle morphogenesis  (IEA,ISO)
cell differentiation  (IBA,IEA,ISS)
cell population proliferation  (IEA,ISO)
cellular response to growth factor stimulus  (ISO)
cellular response to hydrogen peroxide  (ISO)
embryonic heart tube development  (IEA,ISO,ISS)
embryonic heart tube left/right pattern formation  (IEA,ISO)
epithelial cell apoptotic process  (IEA,ISO)
epithelial cell differentiation  (IEA,ISO)
epithelial cell proliferation  (IEA,ISO)
heart contraction  (IEA,ISO)
heart development  (IEA,ISO)
heart looping  (IEA,ISO,ISS)
heart morphogenesis  (IEA,ISO,ISS)
heart trabecula formation  (IEA,ISO)
hemopoiesis  (IEA,ISO,ISS)
negative regulation of apoptotic process  (ISS)
negative regulation of canonical Wnt signaling pathway  (IEA,ISS)
negative regulation of cardiac muscle cell apoptotic process  (IEA,IMP)
negative regulation of DNA-templated transcription  (ISS)
negative regulation of epithelial cell apoptotic process  (IEA,ISO)
negative regulation of myotube differentiation  (IMP)
negative regulation of transcription by RNA polymerase II  (IEA,IMP,ISO,ISS)
outflow tract morphogenesis  (IEA,ISO)
outflow tract septum morphogenesis  (IMP)
pharyngeal system development  (IEA,ISO,ISS)
positive regulation of cardioblast differentiation  (IEA,ISS)
positive regulation of cell population proliferation  (ISS)
positive regulation of DNA-templated transcription  (IDA,IEA,ISO,ISS)
positive regulation of epithelial cell proliferation  (IEA,ISO)
positive regulation of gene expression  (IEA)
positive regulation of heart contraction  (IEA,ISS)
positive regulation of neuron differentiation  (IMP)
positive regulation of sodium ion transport  (IEA,ISS)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,IGI,IMP,ISS)
positive regulation of transcription initiation by RNA polymerase II  (IEA,ISS)
proepicardium development  (IEA,ISO)
pulmonary myocardium development  (IEA,ISO)
Purkinje myocyte differentiation  (IEA,ISO)
regulation of cardiac conduction  (IEA,ISS)
regulation of cardiac muscle cell proliferation  (IEA,ISO)
regulation of cardiac muscle contraction  (IEA,ISS)
regulation of DNA-templated transcription  (IDA,IEA)
regulation of transcription by RNA polymerase II  (IBA,IEA,ISO)
response to estradiol  (ISO)
right ventricular cardiac muscle tissue morphogenesis  (IMP)
septum secundum development  (IMP)
spleen development  (IEA,IMP,ISO,ISS)
thyroid gland development  (IEA,IMP)
transcription by RNA polymerase II  (IEA,ISO)
vasculogenesis  (IEA,ISO,ISS)
ventricular cardiac muscle cell development  (ISS)
ventricular cardiac myofibril assembly  (IEA,ISO)
ventricular septum morphogenesis  (IMP)
ventricular trabecula myocardium morphogenesis  (IEA,ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abdominal pain  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal left ventricular outflow tract morphology  (IAGP)
Abnormal mitral valve morphology  (IAGP)
Abnormal nasal morphology  (IAGP)
Abnormal pulmonary valve morphology  (IAGP)
Abnormality of chromosome segregation  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of the face  (IAGP)
Abnormality of the thyroid gland  (IAGP)
Airway obstruction  (IAGP)
Aortic arch aneurysm  (IAGP)
Aortic regurgitation  (IAGP)
Aortic valve atresia  (IAGP)
Aortic valve calcification  (IAGP)
Aortic valve stenosis  (IAGP)
Arrhythmia  (IAGP)
Ascending aortic dissection  (IAGP)
Atrial fibrillation  (IAGP)
Atrial flutter  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Brachydactyly  (IAGP)
Breathing dysregulation  (IAGP)
Broad forehead  (IAGP)
Broad hallux  (IAGP)
Bundle branch block  (IAGP)
Chest pain  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarctation of aorta  (IAGP)
Coarse facial features  (IAGP)
Complete atrioventricular canal defect  (IAGP)
Congenital hypothyroidism  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Cryptorchidism  (IAGP)
Cyanosis  (IAGP)
Decreased circulating free T3  (IAGP)
Decreased circulating free T4 concentration  (IAGP)
Dolichocephaly  (IAGP)
Double outlet right ventricle  (IAGP)
Dry skin  (IAGP)
Dysphagia  (IAGP)
Dysphonia  (IAGP)
Dyspnea  (IAGP)
Ectopic thyroid  (IAGP)
Elevated circulating thyroid-stimulating hormone concentration  (IAGP)
Exercise intolerance  (IAGP)
Exertional dyspnea  (IAGP)
Fatigue  (IAGP)
Feeding difficulties  (IAGP)
First degree atrioventricular block  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Heart block  (IAGP)
Heart murmur  (IAGP)
Hoarse voice  (IAGP)
Hypersomnia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoplastic aortic arch  (IAGP)
Hypoplastic left heart  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Increased pulmonary vascular resistance  (IAGP)
Intellectual disability, progressive  (IAGP)
Intellectual disability, severe  (IAGP)
Interrupted aortic arch  (IAGP)
Intrauterine growth retardation  (IAGP)
Jaundice  (IAGP)
Large fontanelles  (IAGP)
Left ventricular hypertrophy  (IAGP)
Left-to-right shunt  (IAGP)
Lingual thyroid  (IAGP)
Macroglossia  (IAGP)
Maternal diabetes  (IAGP)
Mitral atresia  (IAGP)
Mitral regurgitation  (IAGP)
Mitral stenosis  (IAGP)
Muscle weakness  (IAGP)
Myocardial infarction  (IAGP)
Noncompaction cardiomyopathy  (IAGP)
Orthopnea  (IAGP)
Palpitations  (IAGP)
Patent ductus arteriosus  (IAGP)
Patent foramen ovale  (IAGP)
Pedal edema  (IAGP)
Pneumonia  (IAGP)
Postaxial polydactyly  (IAGP)
Preauricular pit  (IAGP)
Prolonged PR interval  (IAGP)
Prolonged QT interval  (IAGP)
Proptosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary artery atresia  (IAGP)
Pulmonary artery stenosis  (IAGP)
Recurrent bacterial infections  (IAGP)
Right aortic arch  (IAGP)
Right atrial enlargement  (IAGP)
Right ventricular dilatation  (IAGP)
Right ventricular failure  (IAGP)
Right ventricular hypertrophy  (IAGP)
Secundum atrial septal defect  (IAGP)
Short stature  (IAGP)
Single ventricle  (IAGP)
ST segment depression  (IAGP)
Stroke  (IAGP)
Subvalvular aortic stenosis  (IAGP)
Supraventricular arrhythmia  (IAGP)
Supraventricular tachycardia  (IAGP)
Syncope  (IAGP)
Systolic heart murmur  (IAGP)
Tetralogy of Fallot  (IAGP)
Thin vermilion border  (IAGP)
Thoracic aorta calcification  (IAGP)
Thromboembolic stroke  (IAGP)
Thromboembolism  (IAGP)
Thyroid agenesis  (IAGP)
Thyroid hypoplasia  (IAGP)
Transient ischemic attack  (IAGP)
Transposition of the great arteries  (IAGP)
Tricuspid regurgitation  (IAGP)
Truncus arteriosus  (IAGP)
Umbilical hernia  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Ventricular fibrillation  (IAGP)
Ventricular septal defect  (IAGP)
Vertigo  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity. Abou Hassan OK, etal., Sci Rep. 2015 Mar 6;5:8848. doi: 10.1038/srep08848.
2. A mouse model of human congenital heart disease: high incidence of diverse cardiac anomalies and ventricular noncompaction produced by heterozygous Nkx2-5 homeodomain missense mutation. Ashraf H, etal., Circ Cardiovasc Genet. 2014 Aug;7(4):423-33. doi: 10.1161/CIRCGENETICS.113.000281. Epub 2014 Jul 15.
3. Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5. Biben C, etal., Circ Res. 2000 Nov 10;87(10):888-95.
4. Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature. Ellesøe SG, etal., Congenit Heart Dis. 2016 May;11(3):283-90. doi: 10.1111/chd.12317. Epub 2015 Dec 18.
5. Imaging of the colon. Gelfand DW, Curr Opin Radiol. 1992 Jun;4(3):39-43.
6. NKX2.5 mutations in patients with tetralogy of fallot. Goldmuntz E, etal., Circulation. 2001 Nov 20;104(21):2565-8.
7. A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? Gutierrez-Roelens I, etal., Eur J Hum Genet. 2006 Dec;14(12):1313-6. Epub 2006 Aug 9.
8. Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene. Gutierrez-Roelens I, etal., Hum Mutat. 2002 Jul;20(1):75-6.
9. Nkx2.5/Csx represses myofibroblast differentiation. Hu B, etal., Am J Respir Cell Mol Biol. 2010 Feb;42(2):218-26. Epub 2009 Apr 24.
10. Progressive atrioventricular conduction defects and heart failure in mice expressing a mutant Csx/Nkx2.5 homeoprotein. Kasahara H, etal., J Clin Invest. 2001 Jul;108(2):189-201.
11. Novel NKX2-5 mutations in patients with familial atrial septal defects. Liu XY, etal., Pediatr Cardiol. 2011 Feb;32(2):193-201. doi: 10.1007/s00246-010-9859-6. Epub 2010 Dec 25.
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease. Pabst S, etal., Clin Res Cardiol. 2008 Jan;97(1):39-42. Epub 2007 Sep 25.
14. Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular arrhythmia. Perera JL, etal., Pediatr Cardiol. 2014 Oct;35(7):1206-12. doi: 10.1007/s00246-014-0917-3. Epub 2014 Jun 1.
15. A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve. Qu XK, etal., Am J Cardiol. 2014 Dec 15;114(12):1891-5. doi: 10.1016/j.amjcard.2014.09.028. Epub 2014 Sep 28.
16. Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. Reamon-Buettner SM and Borlak J, J Med Genet. 2004 Sep;41(9):684-90.
17. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
19. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
20. Epistatic rescue of Nkx2.5 adult cardiac conduction disease phenotypes by prospero-related homeobox protein 1 and HDAC3. Risebro CA, etal., Circ Res. 2012 Jul 6;111(2):e19-31. doi: 10.1161/CIRCRESAHA.111.260695. Epub 2012 May 29.
21. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Schott JJ, etal., Science. 1998 Jul 3;281(5373):108-11.
22. The ambiguous role of NKX2-5 mutations in thyroid dysgenesis. van Engelen K, etal., PLoS One. 2012;7(12):e52685. doi: 10.1371/journal.pone.0052685. Epub 2012 Dec 28.
23. Novel NKX2-5 mutations responsible for congenital heart disease. Wang J, etal., Genet Mol Res. 2011 Nov 29;10(4):2905-15. doi: 10.4238/2011.November.29.1.
24. A novel NKX2-5 mutation in familial ventricular septal defect. Wang J, etal., Int J Mol Med. 2011 Mar;27(3):369-75. doi: 10.3892/ijmm.2010.585. Epub 2010 Dec 16.
Additional References at PubMed
PMID:7665173   PMID:8887666   PMID:8900537   PMID:9312027   PMID:9748262   PMID:9858576   PMID:10075728   PMID:10206974   PMID:10587520   PMID:10903346   PMID:10948187   PMID:11431700  
PMID:11889119   PMID:12023302   PMID:12074273   PMID:12122109   PMID:12414819   PMID:12477932   PMID:12499378   PMID:12775767   PMID:12798584   PMID:12845333   PMID:12858530   PMID:12858532  
PMID:14500364   PMID:14607454   PMID:14757752   PMID:15109497   PMID:15161646   PMID:15340050   PMID:15363409   PMID:15489334   PMID:15542826   PMID:15649947   PMID:15653675   PMID:15917268  
PMID:16137232   PMID:16138909   PMID:16344560   PMID:16418214   PMID:16556596   PMID:16678093   PMID:17308084   PMID:17584735   PMID:17891434   PMID:18076106   PMID:18079734   PMID:18084293  
PMID:18219441   PMID:18492690   PMID:18547965   PMID:18579533   PMID:18689573   PMID:18851995   PMID:18939937   PMID:18976153   PMID:18983250   PMID:18997347   PMID:19049681   PMID:19073351  
PMID:19181906   PMID:19217179   PMID:19274049   PMID:19302747   PMID:19371212   PMID:19464101   PMID:19479054   PMID:19533775   PMID:19564151   PMID:19578358   PMID:19595143   PMID:19797053  
PMID:19913121   PMID:19948535   PMID:20021795   PMID:20022124   PMID:20062060   PMID:20137692   PMID:20157192   PMID:20211142   PMID:20456451   PMID:20487506   PMID:20561859   PMID:20606036  
PMID:20628086   PMID:20725931   PMID:20807224   PMID:20932824   PMID:21091212   PMID:21110066   PMID:21152044   PMID:21262546   PMID:21276881   PMID:21464046   PMID:21519287   PMID:21561848  
PMID:21815254   PMID:21873635   PMID:21931855   PMID:22011241   PMID:22043484   PMID:22192413   PMID:22306654   PMID:22560297   PMID:22576768   PMID:22666732   PMID:22824467   PMID:22849347  
PMID:22920929   PMID:22959235   PMID:22964646   PMID:23525379   PMID:23583979   PMID:23644027   PMID:23661673   PMID:23751912   PMID:23778487   PMID:23936479   PMID:24041700   PMID:24182332  
PMID:24376681   PMID:24571118   PMID:24681789   PMID:24743694   PMID:24782644   PMID:24817716   PMID:24987805   PMID:24999758   PMID:25017055   PMID:25050861   PMID:25118008   PMID:25168381  
PMID:25187301   PMID:25203927   PMID:25503402   PMID:25524324   PMID:25524439   PMID:25609649   PMID:25677450   PMID:25725482   PMID:25881702   PMID:26180509   PMID:26273787   PMID:26297999  
PMID:26418945   PMID:26421664   PMID:26823822   PMID:26871637   PMID:26898431   PMID:26926761   PMID:26931254   PMID:27033241   PMID:27052314   PMID:27152669   PMID:27154817   PMID:27207958  
PMID:27401138   PMID:27426723   PMID:27752029   PMID:27819261   PMID:27855642   PMID:27884258   PMID:28139119   PMID:28259982   PMID:28406175   PMID:28473536   PMID:28514442   PMID:28606231  
PMID:28690296   PMID:28749785   PMID:29325903   PMID:29342503   PMID:29636455   PMID:29716526   PMID:29844126   PMID:29899023   PMID:29972125   PMID:30021884   PMID:30121862   PMID:30344277  
PMID:30354339   PMID:30834692   PMID:30982828   PMID:31147515   PMID:31171573   PMID:31402282   PMID:31570892   PMID:32003456   PMID:32213161   PMID:32296183   PMID:32369864   PMID:32631953  
PMID:32681840   PMID:33035436   PMID:33060197   PMID:33062711   PMID:33346701   PMID:33961781   PMID:34214246   PMID:35044719   PMID:35140242   PMID:35328834   PMID:35778654   PMID:36011517  
PMID:36373674   PMID:36690178   PMID:37097539   PMID:37686171   PMID:37689310   PMID:37863045   PMID:37926287  


Genomics

Comparative Map Data
NKX2-5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385173,232,109 - 173,235,206 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5173,232,109 - 173,235,311 (-)EnsemblGRCh38hg38GRCh38
GRCh375172,659,112 - 172,662,209 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365172,591,744 - 172,594,868 (-)NCBINCBI36Build 36hg18NCBI36
Celera5168,692,473 - 168,695,681 (-)NCBICelera
Cytogenetic Map5q35.1NCBI
HuRef5167,754,405 - 167,757,613 (-)NCBIHuRef
CHM1_15172,091,589 - 172,094,797 (-)NCBICHM1_1
T2T-CHM13v2.05173,772,181 - 173,775,278 (-)NCBIT2T-CHM13v2.0
Nkx2-5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391727,057,638 - 27,063,962 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1727,057,638 - 27,063,983 (-)EnsemblGRCm39 Ensembl
GRCm381726,838,664 - 26,844,988 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1726,838,664 - 26,845,009 (-)EnsemblGRCm38mm10GRCm38
MGSCv371726,975,610 - 26,978,510 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361726,566,254 - 26,569,154 (-)NCBIMGSCv36mm8
Celera1727,375,289 - 27,378,187 (-)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1713.6NCBI
Nkx2-5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81016,844,888 - 16,851,458 (+)NCBIGRCr8
mRatBN7.21016,340,428 - 16,347,004 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1016,344,159 - 16,346,934 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1021,093,028 - 21,095,888 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01020,581,977 - 20,584,837 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01016,071,642 - 16,074,502 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01016,635,989 - 16,638,758 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1016,635,989 - 16,638,764 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01016,520,570 - 16,527,836 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41016,606,183 - 16,608,952 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11016,607,231 - 16,610,001 (+)NCBI
Celera1016,004,548 - 16,007,317 (+)NCBICelera
Cytogenetic Map10q12NCBI
Nkx2-5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540825,832,683 - 25,836,840 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540825,833,649 - 25,836,673 (-)NCBIChiLan1.0ChiLan1.0
NKX2-5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24168,367,607 - 168,372,490 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15166,507,149 - 166,512,032 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05168,584,197 - 168,589,406 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15175,492,288 - 175,495,514 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5175,492,288 - 175,495,514 (-)Ensemblpanpan1.1panPan2
NKX2-5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1439,240,755 - 39,254,585 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl439,244,286 - 39,247,592 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha439,189,667 - 39,192,973 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0439,612,560 - 39,618,296 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl439,614,913 - 39,618,296 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1439,432,539 - 39,435,856 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0439,621,539 - 39,624,869 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0440,130,495 - 40,133,809 (+)NCBIUU_Cfam_GSD_1.0
Nkx2-5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721393,683,325 - 93,686,308 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366092,406,004 - 2,409,046 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366092,406,004 - 2,408,980 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NKX2-5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1651,086,011 - 51,089,162 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11651,086,014 - 51,089,165 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21655,400,567 - 55,403,626 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NKX2-5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12375,391,833 - 75,399,003 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2375,391,847 - 75,395,205 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660343,212,995 - 3,216,184 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nkx2-5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473316,881,191 - 16,884,210 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473316,881,189 - 16,884,245 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NKX2-5
500 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004387.4(NKX2-5):c.889G>T (p.Val297Phe) single nucleotide variant Atrial septal defect 7 [RCV000532333]|Cardiovascular phenotype [RCV000617437] Chr5:173232655 [GRCh38]
Chr5:172659658 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.590G>A (p.Arg197Gln) single nucleotide variant not provided [RCV000519325] Chr5:173232954 [GRCh38]
Chr5:172659957 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.461A>G (p.Glu154Gly) single nucleotide variant Atrial septal defect 7 [RCV000144176] Chr5:173233083 [GRCh38]
Chr5:172660086 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.618del (p.Leu207fs) deletion Atrial septal defect 7 [RCV000144177] Chr5:173232926 [GRCh38]
Chr5:172659929 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.721_728del (p.Tyr241fs) deletion Atrial septal defect 7 [RCV000144178] Chr5:173232816..173232823 [GRCh38]
Chr5:172659819..172659826 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr) single nucleotide variant Atrial septal defect 7 [RCV000644453]|Cardiovascular phenotype [RCV000617639]|Long QT syndrome [RCV003318350]|Single ventricle [RCV000144179]|not provided [RCV003430707] Chr5:173232735 [GRCh38]
Chr5:172659738 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_004387.4(NKX2-5):c.707C>A (p.Pro236His) single nucleotide variant Familial isolated congenital asplenia [RCV000032628]|not provided [RCV001577986] Chr5:173232837 [GRCh38]
Chr5:172659840 [GRCh37]
Chr5:5q35.1		 likely pathogenic|uncertain significance
NM_004387.4(NKX2-5):c.44A>T (p.Lys15Ile) single nucleotide variant Atrial septal defect 7 [RCV000023020] Chr5:173235040 [GRCh38]
Chr5:172662043 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.380C>A (p.Ala127Glu) single nucleotide variant Atrial septal defect 7 [RCV000023021]|NKX2-5-related condition [RCV003415729]|not provided [RCV002509168] Chr5:173233164 [GRCh38]
Chr5:172660167 [GRCh37]
Chr5:5q35.1		 pathogenic|uncertain significance
NKX2-5, 3-BP DEL, 871AAC deletion Double outlet right ventricle [RCV000023022] Chr5:5q34 pathogenic
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln) single nucleotide variant Atrial septal defect 7 [RCV000539285]|Atrial septal defect 7 [RCV002490404]|Cardiovascular phenotype [RCV002408478]|Ventricular septal defect 3 [RCV000023023]|not provided [RCV000421219] Chr5:173232696 [GRCh38]
Chr5:172659699 [GRCh37]
Chr5:5q35.1		 pathogenic|uncertain significance
NM_004387.4(NKX2-5):c.175C>G (p.Pro59Ala) single nucleotide variant Ventricular septal defect 3 [RCV000023024] Chr5:173234909 [GRCh38]
Chr5:172661912 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.769C>G (p.Pro257Ala) single nucleotide variant Ventricular septal defect 3 [RCV000023025] Chr5:173232775 [GRCh38]
Chr5:172659778 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.237G>A (p.Pro79=) single nucleotide variant Atrial septal defect 7 [RCV000030335] Chr5:173234847 [GRCh38]
Chr5:172661850 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.237G>C (p.Pro79=) single nucleotide variant Atrial septal defect 7 [RCV000030336]|Cardiovascular phenotype [RCV000617707]|not provided [RCV003389673]|not specified [RCV000301072] Chr5:173234847 [GRCh38]
Chr5:172661850 [GRCh37]
Chr5:5q35.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) single nucleotide variant Atrial septal defect 7 [RCV000227846]|Atrial septal defect [RCV000030337]|Cardiovascular phenotype [RCV000618622]|Lissencephaly due to TUBA1A mutation [RCV001258246]|not provided [RCV001703427]|not specified [RCV000146753] Chr5:173233001 [GRCh38]
Chr5:172660004 [GRCh37]
Chr5:5q35.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004387.4(NKX2-5):c.543G>C (p.Gln181His) single nucleotide variant Atrial septal defect 7 [RCV000588165] Chr5:173233001 [GRCh38]
Chr5:172660004 [GRCh37]
Chr5:5q35.1		 pathogenic|likely pathogenic
NKX2-5, IVS1DS, G-T, +1 single nucleotide variant Atrioventricular block, idiopathic second-degree [RCV000009571] Chr5:5q34 uncertain significance
NM_004387.4(NKX2-5):c.533C>T (p.Thr178Met) single nucleotide variant Atrial septal defect 7 [RCV000009568] Chr5:173233011 [GRCh38]
Chr5:172660014 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.508C>T (p.Gln170Ter) single nucleotide variant Atrial septal defect 7 [RCV000009569] Chr5:173233036 [GRCh38]
Chr5:172660039 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.592C>T (p.Gln198Ter) single nucleotide variant Atrial septal defect 7 [RCV000009570] Chr5:173232952 [GRCh38]
Chr5:172659955 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) single nucleotide variant Aortic arch interruption [RCV000023017]|Atrial septal defect 7 [RCV000987632]|Cardiovascular phenotype [RCV000619696]|Congenital heart disease [RCV000030339]|Hypoplastic left heart syndrome 2 [RCV000023019]|Hypothyroidism, congenital, nongoitrous, 5 [RCV000009573]|Tetralogy of Fallot [RCV000009572]|Truncus arteriosus [RCV000023018]|not provided [RCV003311655]|not specified [RCV000037968] Chr5:173235011 [GRCh38]
Chr5:172662014 [GRCh37]
Chr5:5q35.1		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) single nucleotide variant Atrial septal defect 7 [RCV000987633]|Cardiovascular phenotype [RCV000618034]|Congenital heart disease [RCV000030618]|Tetralogy of Fallot [RCV000009574]|not provided [RCV000514277]|not specified [RCV000171013] Chr5:173235023 [GRCh38]
Chr5:172662026 [GRCh37]
Chr5:5q35.1		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) single nucleotide variant Atrial septal defect 7 [RCV002482846]|Tetralogy of Fallot [RCV000009575]|not provided [RCV001588805] Chr5:173232898 [GRCh38]
Chr5:172659901 [GRCh37]
Chr5:5q35.1		 pathogenic|uncertain significance
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) single nucleotide variant Atrial septal defect 7 [RCV000525369]|Atrial septal defect 7 [RCV002482847]|Cardiovascular phenotype [RCV002362574]|Tetralogy of Fallot [RCV000009576] Chr5:173232888 [GRCh38]
Chr5:172659891 [GRCh37]
Chr5:5q35.1		 pathogenic|uncertain significance
NM_004387.4(NKX2-5):c.215_221del (p.Glu72fs) deletion Atrial septal defect 7 [RCV000009577] Chr5:173234863..173234869 [GRCh38]
Chr5:172661866..172661872 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.228_229del (p.Pro77fs) microsatellite Atrial septal defect 7 [RCV000009578] Chr5:173234855..173234856 [GRCh38]
Chr5:172661858..172661859 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.896A>G (p.Asp299Gly) single nucleotide variant Atrial septal defect 7 [RCV000009579]|Atrioventricular septal defect, somatic [RCV000009580] Chr5:173232648 [GRCh38]
Chr5:172659651 [GRCh37]
Chr5:5q35.1		 pathogenic|other
NM_004387.4(NKX2-5):c.262del (p.Ala88fs) deletion Atrial septal defect 7 [RCV000009581] Chr5:173234822 [GRCh38]
Chr5:172661825 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.568C>T (p.Arg190Cys) single nucleotide variant Atrial septal defect 7 [RCV000009582] Chr5:173232976 [GRCh38]
Chr5:172659979 [GRCh37]
Chr5:5q35.1		 pathogenic|uncertain significance
NM_004387.4(NKX2-5):c.768T>A (p.Tyr256Ter) single nucleotide variant Atrial septal defect 7 [RCV000009583] Chr5:173232776 [GRCh38]
Chr5:172659779 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser) single nucleotide variant Atrial septal defect 7 [RCV000230156]|Cardiovascular phenotype [RCV000620259]|Hypothyroidism, congenital, nongoitrous, 5 [RCV000009584]|NKX2-5-related condition [RCV003904824]|not provided [RCV001529235]|not specified [RCV000171007] Chr5:173233189 [GRCh38]
Chr5:172660192 [GRCh37]
Chr5:5q35.1		 pathogenic|likely pathogenic|benign|likely benign
NM_004387.4(NKX2-5):c.482G>C (p.Arg161Pro) single nucleotide variant Hypothyroidism, congenital, nongoitrous, 5 [RCV000009585]|not provided [RCV003441712] Chr5:173233062 [GRCh38]
Chr5:172660065 [GRCh37]
Chr5:5q35.1		 pathogenic|uncertain significance
NM_004387.4(NKX2-5):c.547A>G (p.Lys183Glu) single nucleotide variant Atrioventricular septal defect, somatic [RCV000009586] Chr5:173232997 [GRCh38]
Chr5:172660000 [GRCh37]
Chr5:5q35.1		 pathogenic|other
NM_004387.4(NKX2-5):c.839C>T (p.Pro280Leu) single nucleotide variant Atrial septal defect 7 [RCV000526273]|Cardiovascular phenotype [RCV000620094]|NKX2-5-related condition [RCV003424119]|not provided [RCV003424118] Chr5:173232705 [GRCh38]
Chr5:172659708 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.280C>T (p.Pro94Ser) single nucleotide variant Atrial septal defect 7 [RCV000549035] Chr5:173234804 [GRCh38]
Chr5:172661807 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.247G>A (p.Ala83Thr) single nucleotide variant not provided [RCV000520166] Chr5:173234837 [GRCh38]
Chr5:172661840 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001166175.2(NKX2-5):c.*353_*355delinsAT indel Heart, malformation of [RCV000037965] Chr5:173233142..173233144 [GRCh38]
Chr5:172660145..172660147 [GRCh37]
Chr5:5q35.1		 likely pathogenic
NM_004387.4(NKX2-5):c.437C>G (p.Ser146Trp) single nucleotide variant not specified [RCV000037966] Chr5:173233107 [GRCh38]
Chr5:172660110 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.63A>G (p.Glu21=) single nucleotide variant Atrial septal defect 7 [RCV001519748]|Cardiovascular phenotype [RCV000621997]|not specified [RCV000037967] Chr5:173235021 [GRCh38]
Chr5:172662024 [GRCh37]
Chr5:5q35.1		 benign
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3		 pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3		 pathogenic
GRCh38/hg38 5q35.1-35.2(chr5:172776798-174342969)x1 copy number loss See cases [RCV000052149] Chr5:172776798..174342969 [GRCh38]
Chr5:172203801..173769972 [GRCh37]
Chr5:172136407..173702578 [NCBI36]
Chr5:5q35.1-35.2		 pathogenic
GRCh38/hg38 5q35.1-35.2(chr5:172961091-175054665)x1 copy number loss See cases [RCV000052150] Chr5:172961091..175054665 [GRCh38]
Chr5:172388094..174481668 [GRCh37]
Chr5:172320700..174414274 [NCBI36]
Chr5:5q35.1-35.2		 pathogenic
NM_004387.4(NKX2-5):c.335-311A>T single nucleotide variant not specified [RCV000127210] Chr5:173233520 [GRCh38]
Chr5:172660523 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.335-307T>A single nucleotide variant not specified [RCV000127211] Chr5:173233516 [GRCh38]
Chr5:172660519 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=) single nucleotide variant Atrial septal defect 7 [RCV000229498]|Cardiovascular phenotype [RCV000618273]|not provided [RCV003736598]|not specified [RCV000127213] Chr5:173232683 [GRCh38]
Chr5:172659686 [GRCh37]
Chr5:5q35.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004387.4(NKX2-5):c.335-162G>A single nucleotide variant Atrial septal defect 7 [RCV000556878]|Atrial septal defect 7 [RCV002492706]|NKX2-5-related condition [RCV003937530]|not provided [RCV001704243] Chr5:173233371 [GRCh38]
Chr5:172660374 [GRCh37]
Chr5:5q35.1		 benign|likely benign|uncertain significance
NM_004387.4(NKX2-5):c.566G>C (p.Arg189Pro) single nucleotide variant Atrial septal defect 7 [RCV000702426]|not provided [RCV000171010] Chr5:173232978 [GRCh38]
Chr5:172659981 [GRCh37]
Chr5:5q35.1		 pathogenic|uncertain significance
NM_004387.4(NKX2-5):c.632C>T (p.Pro211Leu) single nucleotide variant Atrial septal defect 7 [RCV000470087]|Cardiovascular phenotype [RCV002354421]|not provided [RCV001704244] Chr5:173232912 [GRCh38]
Chr5:172659915 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_004387.4(NKX2-5):c.124G>C (p.Ala42Pro) single nucleotide variant Atrial septal defect 7 [RCV000470357]|Cardiovascular phenotype [RCV002408739]|not provided [RCV001573768] Chr5:173234960 [GRCh38]
Chr5:172661963 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_004387.4(NKX2-5):c.508_516del (p.Gln170_Ala172del) deletion not provided [RCV000171015] Chr5:173233028..173233036 [GRCh38]
Chr5:172660031..172660039 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.554_555insC (p.Trp185fs) insertion not provided [RCV000171016] Chr5:173232989..173232990 [GRCh38]
Chr5:172659992..172659993 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) single nucleotide variant Abnormal cardiovascular system morphology [RCV000193266]|Atrial septal defect 7 [RCV000477570]|Cardiovascular phenotype [RCV000618509]|not provided [RCV000727462]|not specified [RCV002298499] Chr5:173235019 [GRCh38]
Chr5:172662022 [GRCh37]
Chr5:5q35.1		 likely pathogenic|uncertain significance|no classifications from unflagged records
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) single nucleotide variant Atrial septal defect 7 [RCV001852050]|Atrial septal defect 7 [RCV002492707]|Cardiovascular phenotype [RCV002354420]|not provided [RCV000171011] Chr5:173232954 [GRCh38]
Chr5:172659957 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.335-311_335-310del deletion not provided [RCV000514236] Chr5:173233519..173233520 [GRCh38]
Chr5:172660522..172660523 [GRCh37]
Chr5:5q35.1		 likely benign
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
NM_004387.4(NKX2-5):c.471_472del (p.Phe157fs) deletion Malformation of the heart and great vessels [RCV000146752] Chr5:173233072..173233073 [GRCh38]
Chr5:172660075..172660076 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.606G>C (p.Leu202=) single nucleotide variant Atrial septal defect 7 [RCV000471215]|Cardiovascular phenotype [RCV000617386]|not specified [RCV000146754] Chr5:173232938 [GRCh38]
Chr5:172659941 [GRCh37]
Chr5:5q35.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) deletion Atrial septal defect 7 [RCV000550275]|Atrial septal defect 7 [RCV002483283]|Malformation of the heart and great vessels [RCV000146756]|NKX2-5-related condition [RCV003965106]|not provided [RCV001582613] Chr5:173232761 [GRCh38]
Chr5:172659764 [GRCh37]
Chr5:5q35.1		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3		 pathogenic
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3		 pathogenic
NM_004387.4(NKX2-5):c.335-310dup duplication not specified [RCV000203109] Chr5:173233505..173233506 [GRCh38]
Chr5:172660508..172660509 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.685_686dup (p.Cys230fs) duplication not provided [RCV000175778] Chr5:173232857..173232858 [GRCh38]
Chr5:172659860..172659861 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.114G>A (p.Glu38=) single nucleotide variant Atrial septal defect 7 [RCV000560213]|Cardiovascular phenotype [RCV000617700]|not specified [RCV000193903] Chr5:173234970 [GRCh38]
Chr5:172661973 [GRCh37]
Chr5:5q35.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004387.4(NKX2-5):c.512T>G (p.Leu171Arg) single nucleotide variant Abnormal cardiovascular system morphology [RCV000192960] Chr5:173233032 [GRCh38]
Chr5:172660035 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.554G>T (p.Trp185Leu) single nucleotide variant Abnormal cardiovascular system morphology [RCV000193839] Chr5:173232990 [GRCh38]
Chr5:172659993 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.635C>A (p.Pro212Gln) single nucleotide variant not specified [RCV000195044] Chr5:173232909 [GRCh38]
Chr5:172659912 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.478_480delinsGTACCGTT (p.Gln160fs) indel Abnormal cardiovascular system morphology [RCV000195107]|not provided [RCV000484660] Chr5:173233064..173233066 [GRCh38]
Chr5:172660067..172660069 [GRCh37]
Chr5:5q35.1		 pathogenic|likely pathogenic
NM_004387.4(NKX2-5):c.*61G>T single nucleotide variant not provided [RCV001689727]|not specified [RCV000192692] Chr5:173232508 [GRCh38]
Chr5:172659511 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro) single nucleotide variant Atrial septal defect 7 [RCV000542359]|Atrial septal defect 7 [RCV002483450]|Cardiovascular phenotype [RCV002377106]|not provided [RCV000786392] Chr5:173235019 [GRCh38]
Chr5:172662022 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.391G>A (p.Glu131Lys) single nucleotide variant Congenital heart disease [RCV000203502] Chr5:173233153 [GRCh38]
Chr5:172660156 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.335-12G>A single nucleotide variant Congenital heart disease [RCV000203520] Chr5:173233221 [GRCh38]
Chr5:172660224 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.443C>A (p.Ala148Glu) single nucleotide variant Congenital heart disease [RCV000203525] Chr5:173233101 [GRCh38]
Chr5:172660104 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.182C>G (p.Ala61Gly) single nucleotide variant Congenital heart disease [RCV000203543] Chr5:173234902 [GRCh38]
Chr5:172661905 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.335-20G>A single nucleotide variant Congenital heart disease [RCV000203544] Chr5:173233229 [GRCh38]
Chr5:172660232 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.335-1G>T single nucleotide variant Congenital heart disease [RCV000203558] Chr5:173233210 [GRCh38]
Chr5:172660213 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.938C>T (p.Ser313Leu) single nucleotide variant not provided [RCV000213088] Chr5:173232606 [GRCh38]
Chr5:172659609 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.752del (p.Asn251fs) deletion Atrial septal defect 7 [RCV000234875] Chr5:173232792 [GRCh38]
Chr5:172659795 [GRCh37]
Chr5:5q35.1		 pathogenic|likely pathogenic
NM_004387.4(NKX2-5):c.335-3C>G single nucleotide variant Heart, malformation of [RCV000219333] Chr5:173233212 [GRCh38]
Chr5:172660215 [GRCh37]
Chr5:5q35.1		 likely pathogenic|uncertain significance
NM_004387.3(NKX2-5):c.-229_*465del deletion Atrial septal defect 7 [RCV000229712] Chr5:173232104..173235312 [GRCh38]
Chr5:172659107..172662315 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.298C>G (p.Pro100Ala) single nucleotide variant Atrial septal defect 7 [RCV000226256] Chr5:173234786 [GRCh38]
Chr5:172661789 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.514G>A (p.Ala172Thr) single nucleotide variant Atrial septal defect 7 [RCV000232942] Chr5:173233030 [GRCh38]
Chr5:172660033 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.443del (p.Ala148fs) deletion not provided [RCV000223727] Chr5:173233101 [GRCh38]
Chr5:172660104 [GRCh37]
Chr5:5q35.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004387.4(NKX2-5):c.334+1G>T single nucleotide variant Atrioventricular block, idiopathic second-degree [RCV000009571]|not provided [RCV000223896] Chr5:173234749 [GRCh38]
Chr5:172661752 [GRCh37]
Chr5:5q35.1		 pathogenic|uncertain significance
NM_004387.4(NKX2-5):c.173G>T (p.Gly58Val) single nucleotide variant Atrial septal defect 7 [RCV001038484]|Cardiovascular phenotype [RCV000621821] Chr5:173234911 [GRCh38]
Chr5:172661914 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_004387.4(NKX2-5):c.450C>T (p.Val150=) single nucleotide variant Atrial septal defect 7 [RCV000868349]|Cardiovascular phenotype [RCV000620978] Chr5:173233094 [GRCh38]
Chr5:172660097 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.906G>C (p.Ala302=) single nucleotide variant Atrial septal defect 7 [RCV001422864]|Cardiovascular phenotype [RCV000620989] Chr5:173232638 [GRCh38]
Chr5:172659641 [GRCh37]
Chr5:5q35.1		 likely benign
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
NM_004387.4(NKX2-5):c.594G>A (p.Gln198=) single nucleotide variant Atrial septal defect 7 [RCV000463430]|Cardiovascular phenotype [RCV000619732]|not provided [RCV001668503]|not specified [RCV000242763] Chr5:173232950 [GRCh38]
Chr5:172659953 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.768T>G (p.Tyr256Ter) single nucleotide variant Atrial septal defect 7 [RCV000240621] Chr5:173232776 [GRCh38]
Chr5:172659779 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr) single nucleotide variant Atrial septal defect 7 [RCV001061626]|Atrial septal defect 7 [RCV002503988]|Cardiovascular phenotype [RCV003165731]|not provided [RCV000294434] Chr5:173232775 [GRCh38]
Chr5:172659778 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.886G>A (p.Gly296Ser) single nucleotide variant Atrial septal defect 7 [RCV002525255]|not provided [RCV000519820] Chr5:173232658 [GRCh38]
Chr5:172659661 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.35T>C (p.Phe12Ser) single nucleotide variant not provided [RCV000489523] Chr5:173235049 [GRCh38]
Chr5:172662052 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.469T>G (p.Phe157Val) single nucleotide variant Tetralogy of Fallot [RCV003315207] Chr5:173233075 [GRCh38]
Chr5:172660078 [GRCh37]
Chr5:5q35.1		 likely pathogenic
NM_004387.4(NKX2-5):c.662C>T (p.Pro221Leu) single nucleotide variant Atrial septal defect 7 [RCV002530931]|not provided [RCV000587249] Chr5:173232882 [GRCh38]
Chr5:172659885 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile) single nucleotide variant Atrial septal defect 7 [RCV001227312]|Atrial septal defect 7 [RCV002491307]|Cardiovascular phenotype [RCV000622055]|not provided [RCV002223229] Chr5:173233096 [GRCh38]
Chr5:172660099 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp) single nucleotide variant Atrial septal defect 7 [RCV002528814]|Cardiovascular phenotype [RCV000617599]|not provided [RCV003129941] Chr5:173233202 [GRCh38]
Chr5:172660205 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.447G>C (p.Gln149His) single nucleotide variant Atrial septal defect 7 [RCV000549940] Chr5:173233097 [GRCh38]
Chr5:172660100 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.402_407dup (p.Ala135_Arg136dup) duplication not provided [RCV000521992] Chr5:173233136..173233137 [GRCh38]
Chr5:172660139..172660140 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.608A>G (p.Glu203Gly) single nucleotide variant Atrial septal defect 7 [RCV001240727]|Cardiovascular phenotype [RCV000621713] Chr5:173232936 [GRCh38]
Chr5:172659939 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu) single nucleotide variant Atrial septal defect 7 [RCV001321327]|Atrial septal defect 7 [RCV002488852]|Cardiovascular phenotype [RCV002450952]|not provided [RCV002223836]|not specified [RCV000414455] Chr5:173233188 [GRCh38]
Chr5:172660191 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.474G>T (p.Lys158Asn) single nucleotide variant not specified [RCV000413858] Chr5:173233070 [GRCh38]
Chr5:172660073 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.734T>G (p.Leu245Arg) single nucleotide variant not provided [RCV003221569] Chr5:173232810 [GRCh38]
Chr5:172659813 [GRCh37]
Chr5:5q35.1		 uncertain significance
GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)x1 copy number loss See cases [RCV000447112] Chr5:164207156..172799124 [GRCh37]
Chr5:5q34-35.1		 pathogenic
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly) single nucleotide variant Atrial septal defect 7 [RCV000644446]|Atrial septal defect 7 [RCV003224281]|Cardiovascular phenotype [RCV002429460]|not provided [RCV000434919] Chr5:173232717 [GRCh38]
Chr5:172659720 [GRCh37]
Chr5:5q35.1		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_004387.4(NKX2-5):c.852C>G (p.Ala284=) single nucleotide variant Atrial septal defect 7 [RCV000464580]|Atrial septal defect 7 [RCV002488885]|Cardiovascular phenotype [RCV000621009]|not provided [RCV001703473] Chr5:173232692 [GRCh38]
Chr5:172659695 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.701C>A (p.Ser234Ter) single nucleotide variant Atrial septal defect 7 [RCV003619678]|not provided [RCV000428074] Chr5:173232843 [GRCh38]
Chr5:172659846 [GRCh37]
Chr5:5q35.1		 pathogenic|likely pathogenic
NM_004387.4(NKX2-5):c.147C>G (p.Ala49=) single nucleotide variant Atrial septal defect 7 [RCV001396582]|Cardiovascular phenotype [RCV002393038]|not provided [RCV000870347] Chr5:173234937 [GRCh38]
Chr5:172661940 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.777C>G (p.Tyr259Ter) single nucleotide variant not provided [RCV000432384] Chr5:173232767 [GRCh38]
Chr5:172659770 [GRCh37]
Chr5:5q35.1		 pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 copy number gain See cases [RCV000448458] Chr5:171396359..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del) microsatellite Atrial septal defect 7 [RCV000462724]|Atrial septal defect 7 [RCV002489071]|Cardiovascular phenotype [RCV002374804]|Double outlet right ventricle [RCV000023022] Chr5:173232671..173232673 [GRCh38]
Chr5:172659674..172659676 [GRCh37]
Chr5:5q35.1		 pathogenic|uncertain significance
NM_004387.4(NKX2-5):c.627GCC[6] (p.Pro214dup) microsatellite Atrial septal defect 7 [RCV000462970]|Cardiovascular phenotype [RCV000617268]|Tetralogy of Fallot [RCV003988845]|not provided [RCV000786394] Chr5:173232902..173232903 [GRCh38]
Chr5:172659905..172659906 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_004387.4(NKX2-5):c.627GCC[4] (p.Pro214del) microsatellite Atrial septal defect 7 [RCV000456338]|Cardiovascular phenotype [RCV002367610]|Primary dilated cardiomyopathy [RCV001293212] Chr5:173232903..173232905 [GRCh38]
Chr5:172659906..172659908 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_004387.4(NKX2-5):c.706C>A (p.Pro236Thr) single nucleotide variant Atrial septal defect 7 [RCV000471990]|Inborn genetic diseases [RCV002526435] Chr5:173232838 [GRCh38]
Chr5:172659841 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.897C>T (p.Asp299=) single nucleotide variant Atrial septal defect 7 [RCV001432277] Chr5:173232647 [GRCh38]
Chr5:172659650 [GRCh37]
Chr5:5q35.1		 likely benign
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 copy number gain See cases [RCV000512068] Chr5:172031248..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
NM_004387.4(NKX2-5):c.824C>T (p.Pro275Leu) single nucleotide variant Atrial septal defect 7 [RCV000477547]|Atrial septal defect 7 [RCV000660565] Chr5:173232720 [GRCh38]
Chr5:172659723 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.335-289G>T single nucleotide variant not provided [RCV000498218] Chr5:173233498 [GRCh38]
Chr5:172660501 [GRCh37]
Chr5:5q35.1		 uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
NM_004387.4(NKX2-5):c.743A>G (p.Tyr248Cys) single nucleotide variant Atrial septal defect 7 [RCV001851351]|not provided [RCV000494374] Chr5:173232801 [GRCh38]
Chr5:172659804 [GRCh37]
Chr5:5q35.1		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_004387.4(NKX2-5):c.395G>C (p.Arg132Pro) single nucleotide variant Atrial septal defect 7 [RCV000808237]|Cardiovascular phenotype [RCV000617877] Chr5:173233149 [GRCh38]
Chr5:172660152 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.249G>T (p.Ala83=) single nucleotide variant Atrial septal defect 7 [RCV002528410] Chr5:173234835 [GRCh38]
Chr5:172661838 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu) single nucleotide variant Atrial septal defect 7 [RCV000540219]|not provided [RCV000998493]|not specified [RCV001727746] Chr5:173232601 [GRCh38]
Chr5:172659604 [GRCh37]
Chr5:5q35.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004387.4(NKX2-5):c.377A>C (p.Glu126Ala) single nucleotide variant Atrial septal defect 7 [RCV000644448]|not provided [RCV000786393] Chr5:173233167 [GRCh38]
Chr5:172660170 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.430C>T (p.Leu144Phe) single nucleotide variant Atrial septal defect 7 [RCV000644450] Chr5:173233114 [GRCh38]
Chr5:172660117 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.655G>A (p.Ala219Thr) single nucleotide variant Atrial septal defect 7 [RCV000644451]|Cardiovascular phenotype [RCV002360590] Chr5:173232889 [GRCh38]
Chr5:172659892 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.300C>A (p.Pro100=) single nucleotide variant Atrial septal defect 7 [RCV000644452]|Cardiovascular phenotype [RCV002440306] Chr5:173234784 [GRCh38]
Chr5:172661787 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_004387.4(NKX2-5):c.334+9G>A single nucleotide variant Atrial septal defect 7 [RCV000644455] Chr5:173234741 [GRCh38]
Chr5:172661744 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.270C>T (p.Pro90=) single nucleotide variant Cardiovascular phenotype [RCV003293684] Chr5:173234814 [GRCh38]
Chr5:172661817 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.675C>T (p.Arg225=) single nucleotide variant Cardiovascular phenotype [RCV003293686] Chr5:173232869 [GRCh38]
Chr5:172659872 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.969C>T (p.Ala323=) single nucleotide variant Atrial septal defect 7 [RCV001502209]|Cardiovascular phenotype [RCV002377314]|not provided [RCV000867595] Chr5:173232575 [GRCh38]
Chr5:172659578 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.956A>G (p.His319Arg) single nucleotide variant Atrial septal defect 7 [RCV003619713]|Cardiovascular phenotype [RCV000620703]|not provided [RCV001756005] Chr5:173232588 [GRCh38]
Chr5:172659591 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.59T>C (p.Leu20Pro) single nucleotide variant Atrial septal defect 7 [RCV003619711]|Cardiovascular phenotype [RCV000621382] Chr5:173235025 [GRCh38]
Chr5:172662028 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.887G>A (p.Gly296Asp) single nucleotide variant Atrial septal defect 7 [RCV003619712]|Cardiovascular phenotype [RCV000617167] Chr5:173232657 [GRCh38]
Chr5:172659660 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.491C>A (p.Ser164Ter) single nucleotide variant Atrial septal defect 7 [RCV003767784]|Cardiovascular phenotype [RCV000621937] Chr5:173233053 [GRCh38]
Chr5:172660056 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.335-7C>G single nucleotide variant Atrial septal defect 7 [RCV000537452]|not provided [RCV000786391] Chr5:173233216 [GRCh38]
Chr5:172660219 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.334+9G>T single nucleotide variant Atrial septal defect 7 [RCV001478150]|not specified [RCV000607490] Chr5:173234741 [GRCh38]
Chr5:172661744 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.882C>T (p.Asn294=) single nucleotide variant Atrial septal defect 7 [RCV000556272]|Cardiovascular phenotype [RCV002448723] Chr5:173232662 [GRCh38]
Chr5:172659665 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=) single nucleotide variant Atrial septal defect 7 [RCV002498893]|Atrial septal defect 7 [RCV002529342]|Cardiovascular phenotype [RCV002438547]|not specified [RCV000607896] Chr5:173234973 [GRCh38]
Chr5:172661976 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_004387.4(NKX2-5):c.771G>T (p.Pro257=) single nucleotide variant Atrial septal defect 7 [RCV001468339]|Cardiovascular phenotype [RCV002404651]|not specified [RCV000610574] Chr5:173232773 [GRCh38]
Chr5:172659776 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.583C>A (p.Arg195=) single nucleotide variant not specified [RCV000613361] Chr5:173232961 [GRCh38]
Chr5:172659964 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.217C>T (p.Leu73=) single nucleotide variant not specified [RCV000613785] Chr5:173234867 [GRCh38]
Chr5:172661870 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.492G>C (p.Ser164=) single nucleotide variant Atrial septal defect 7 [RCV001434015]|Atrial septal defect 7 [RCV002476373]|Cardiovascular phenotype [RCV002334023]|NKX2-5-related condition [RCV003953095]|not specified [RCV000616906] Chr5:173233052 [GRCh38]
Chr5:172660055 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.357G>T (p.Ala119=) single nucleotide variant Atrial septal defect 7 [RCV001464450]|Cardiovascular phenotype [RCV002456344]|not specified [RCV000614035] Chr5:173233187 [GRCh38]
Chr5:172660190 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.350A>C (p.Gln117Pro) single nucleotide variant Cardiovascular phenotype [RCV003293682] Chr5:173233194 [GRCh38]
Chr5:172660197 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.423G>A (p.Pro141=) single nucleotide variant Atrial septal defect 7 [RCV003509801]|Cardiovascular phenotype [RCV003293683] Chr5:173233121 [GRCh38]
Chr5:172660124 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.825C>T (p.Pro275=) single nucleotide variant Cardiovascular phenotype [RCV003293687] Chr5:173232719 [GRCh38]
Chr5:172659722 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.753C>G (p.Asn251Lys) single nucleotide variant Atrial septal defect 7 [RCV001056527]|Atrial septal defect 7 [RCV002483718]|Cardiovascular phenotype [RCV000620204] Chr5:173232791 [GRCh38]
Chr5:172659794 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.724G>C (p.Gly242Arg) single nucleotide variant Atrial septal defect 7 [RCV000644444] Chr5:173232820 [GRCh38]
Chr5:172659823 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.206T>G (p.Leu69Arg) single nucleotide variant Atrial septal defect 7 [RCV000644445] Chr5:173234878 [GRCh38]
Chr5:172661881 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.241A>G (p.Lys81Glu) single nucleotide variant Atrial septal defect 7 [RCV000644447] Chr5:173234843 [GRCh38]
Chr5:172661846 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.605_606del (p.Leu202fs) deletion Atrial septal defect 7 [RCV000644449]|Inborn genetic diseases [RCV001265720]|not provided [RCV000786390] Chr5:173232938..173232939 [GRCh38]
Chr5:172659941..172659942 [GRCh37]
Chr5:5q35.1		 pathogenic|likely pathogenic
NM_004387.4(NKX2-5):c.309C>T (p.Ala103=) single nucleotide variant Atrial septal defect 7 [RCV000644454]|Cardiovascular phenotype [RCV002325267] Chr5:173234775 [GRCh38]
Chr5:172661778 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter) single nucleotide variant Atrial septal defect 7 [RCV001049571]|Primary dilated cardiomyopathy [RCV000626863] Chr5:173232833 [GRCh38]
Chr5:172659836 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs) duplication Atrial septal defect 7 [RCV001038060]|Atrial septal defect 7 [RCV002483744]|Inborn genetic diseases [RCV000623364]|not specified [RCV001193907] Chr5:173232652..173232653 [GRCh38]
Chr5:172659655..172659656 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.85G>A (p.Ala29Thr) single nucleotide variant Cardiovascular phenotype [RCV000617626] Chr5:173234999 [GRCh38]
Chr5:172662002 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.298C>A (p.Pro100Thr) single nucleotide variant Atrial septal defect 7 [RCV000701268]|Cardiovascular phenotype [RCV002440511] Chr5:173234786 [GRCh38]
Chr5:172661789 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.147_163delinsGCCTCCT (p.Ala50fs) indel Atrial septal defect 7 [RCV000690794] Chr5:173234921..173234937 [GRCh38]
Chr5:172661924..172661940 [GRCh37]
Chr5:5q35.1		 pathogenic
NC_000005.9:g.(?_172659552)_(172672303_?)dup duplication Atrial septal defect 7 [RCV000708133] Chr5:173232549..173245300 [GRCh38]
Chr5:172659552..172672303 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.566G>A (p.Arg189Gln) single nucleotide variant Atrial septal defect 7 [RCV000700821] Chr5:173232978 [GRCh38]
Chr5:172659981 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.82G>A (p.Ala28Thr) single nucleotide variant Atrial septal defect 7 [RCV000703980]|Cardiovascular phenotype [RCV003165900] Chr5:173235002 [GRCh38]
Chr5:172662005 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.13C>T (p.Pro5Ser) single nucleotide variant Atrial septal defect 7 [RCV000702042]|Cardiovascular phenotype [RCV002388316] Chr5:173235071 [GRCh38]
Chr5:172662074 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr) single nucleotide variant Atrial septal defect 7 [RCV001470939]|Atrial septal defect 7 [RCV002477624]|Cardiovascular phenotype [RCV002424703]|not provided [RCV000704559] Chr5:173232721 [GRCh38]
Chr5:172659724 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_004387.4(NKX2-5):c.375dup (p.Glu126fs) duplication Atrial septal defect 7 [RCV000707466] Chr5:173233168..173233169 [GRCh38]
Chr5:172660171..172660172 [GRCh37]
Chr5:5q35.1		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3		 pathogenic
NM_004387.4(NKX2-5):c.755C>T (p.Ala252Val) single nucleotide variant Atrial septal defect 7 [RCV001327140]|Cardiovascular phenotype [RCV002390732]|Hypertrophic cardiomyopathy [RCV000852563]|not provided [RCV001593059] Chr5:173232789 [GRCh38]
Chr5:172659792 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_004387.4(NKX2-5):c.334+209_334+212dup duplication not provided [RCV001534517] Chr5:173234537..173234538 [GRCh38]
Chr5:172661540..172661541 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.486C>A (p.Tyr162Ter) single nucleotide variant Atrial septal defect 7 [RCV001052873] Chr5:173233058 [GRCh38]
Chr5:172660061 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.310A>T (p.Lys104Ter) single nucleotide variant Atrial septal defect 7 [RCV001058874] Chr5:173234774 [GRCh38]
Chr5:172661777 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.88G>A (p.Ala30Thr) single nucleotide variant Atrial septal defect 7 [RCV001858880] Chr5:173234996 [GRCh38]
Chr5:172661999 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.159A>T (p.Pro53=) single nucleotide variant Atrial septal defect 7 [RCV001463565] Chr5:173234925 [GRCh38]
Chr5:172661928 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.357G>C (p.Ala119=) single nucleotide variant Atrial septal defect 7 [RCV000925947] Chr5:173233187 [GRCh38]
Chr5:172660190 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.192G>A (p.Pro64=) single nucleotide variant Atrial septal defect 7 [RCV001428745] Chr5:173234892 [GRCh38]
Chr5:172661895 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.408A>G (p.Arg136=) single nucleotide variant Atrial septal defect 7 [RCV000943499]|Cardiovascular phenotype [RCV002320152] Chr5:173233136 [GRCh38]
Chr5:172660139 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.676G>A (p.Asp226Asn) single nucleotide variant Atrial septal defect 7 [RCV001064439] Chr5:173232868 [GRCh38]
Chr5:172659871 [GRCh37]
Chr5:5q35.1		 uncertain significance
NC_000005.10:g.(?_173232273)_(173245300_?)del deletion Atrial septal defect 7 [RCV001031990] Chr5:172659276..172672303 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.499G>A (p.Glu167Lys) single nucleotide variant Atrial septal defect 7 [RCV001035517] Chr5:173233045 [GRCh38]
Chr5:172660048 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.898T>C (p.Leu300=) single nucleotide variant Atrial septal defect 7 [RCV001435469] Chr5:173232646 [GRCh38]
Chr5:172659649 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.89C>A (p.Ala30Asp) single nucleotide variant Atrial septal defect 7 [RCV000820710] Chr5:173234995 [GRCh38]
Chr5:172661998 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.668del (p.Leu223fs) deletion Atrial septal defect 7 [RCV000818694] Chr5:173232876 [GRCh38]
Chr5:172659879 [GRCh37]
Chr5:5q35.1		 likely pathogenic
NM_004387.3(NKX2-5):c.-229_334del deletion Atrial septal defect 7 [RCV000818509] Chr5:173234749..173235311 [GRCh38]
Chr5:172661752..172662314 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.952_953delinsGC (p.Leu318Ala) indel Atrial septal defect 7 [RCV000824256] Chr5:173232591..173232592 [GRCh38]
Chr5:172659594..172659595 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.287C>T (p.Ala96Val) single nucleotide variant Atrial septal defect 7 [RCV000798171] Chr5:173234797 [GRCh38]
Chr5:172661800 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.96G>C (p.Glu32Asp) single nucleotide variant Atrial septal defect 7 [RCV001061180]|Atrial septal defect 7 [RCV002489668] Chr5:173234988 [GRCh38]
Chr5:172661991 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.323C>T (p.Ala108Val) single nucleotide variant Atrial septal defect 7 [RCV000794200] Chr5:173234761 [GRCh38]
Chr5:172661764 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.869A>G (p.Asn290Ser) single nucleotide variant Atrial septal defect 7 [RCV000794908]|Cardiovascular phenotype [RCV002370079]|not provided [RCV001772050] Chr5:173232675 [GRCh38]
Chr5:172659678 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.609G>A (p.Glu203=) single nucleotide variant Atrial septal defect 7 [RCV001463535]|Atrial septal defect 7 [RCV002495203]|Cardiovascular phenotype [RCV002352489]|not provided [RCV000841633] Chr5:173232935 [GRCh38]
Chr5:172659938 [GRCh37]
Chr5:5q35.1		 likely benign
GRCh37/hg19 5q35.1(chr5:172657979-172782386)x3 copy number gain not provided [RCV000846493] Chr5:172657979..172782386 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.317C>T (p.Pro106Leu) single nucleotide variant not provided [RCV000998495] Chr5:173234767 [GRCh38]
Chr5:172661770 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.705G>C (p.Ala235=) single nucleotide variant Atrial septal defect 7 [RCV000936287]|Cardiovascular phenotype [RCV002363412] Chr5:173232839 [GRCh38]
Chr5:172659842 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.637C>G (p.Pro213Ala) single nucleotide variant Atrial septal defect 7 [RCV001052178] Chr5:173232907 [GRCh38]
Chr5:172659910 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.605T>C (p.Leu202Pro) single nucleotide variant Atrial septal defect 7 [RCV001208765]|not provided [RCV002224022] Chr5:173232939 [GRCh38]
Chr5:172659942 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.116C>G (p.Ala39Gly) single nucleotide variant Atrial septal defect 7 [RCV001203285] Chr5:173234968 [GRCh38]
Chr5:172661971 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.160_161insCTGGCCCG (p.Glu54fs) insertion Atrial septal defect 7 [RCV001216063] Chr5:173234923..173234924 [GRCh38]
Chr5:172661926..172661927 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.673C>T (p.Arg225Cys) single nucleotide variant Atrial septal defect 7 [RCV001210640]|Cardiovascular phenotype [RCV002365948] Chr5:173232871 [GRCh38]
Chr5:172659874 [GRCh37]
Chr5:5q35.1		 uncertain significance
GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1 copy number loss Atrial septal defect 7 [RCV000853560] Chr5:166421173..173324843 [GRCh37]
Chr5:5q34-35.2		 pathogenic
NM_004387.4(NKX2-5):c.*197G>C single nucleotide variant not provided [RCV001566432] Chr5:173232372 [GRCh38]
Chr5:172659375 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.334+63G>A single nucleotide variant not provided [RCV001583465] Chr5:173234687 [GRCh38]
Chr5:172661690 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.60G>C (p.Leu20=) single nucleotide variant Atrial septal defect 7 [RCV002573205]|not provided [RCV001568549] Chr5:173235024 [GRCh38]
Chr5:172662027 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.335-297del deletion not specified [RCV001698936] Chr5:173233506 [GRCh38]
Chr5:172660509 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.462G>A (p.Glu154=) single nucleotide variant Atrial septal defect 7 [RCV002569115]|not provided [RCV001589429] Chr5:173233082 [GRCh38]
Chr5:172660085 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_004387.4(NKX2-5):c.335-331A>T single nucleotide variant not provided [RCV001569862] Chr5:173233540 [GRCh38]
Chr5:172660543 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.168C>T (p.Tyr56=) single nucleotide variant Atrial septal defect 7 [RCV001499158]|Cardiovascular phenotype [RCV002399922] Chr5:173234916 [GRCh38]
Chr5:172661919 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.246dup (p.Ala83fs) duplication Atrial septal defect 7 [RCV001222867] Chr5:173234837..173234838 [GRCh38]
Chr5:172661840..172661841 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.91G>A (p.Gly31Arg) single nucleotide variant Atrial septal defect 7 [RCV001208962] Chr5:173234993 [GRCh38]
Chr5:172661996 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys) single nucleotide variant Atrial septal defect 7 [RCV001208971]|Atrial septal defect 7 [RCV002491634] Chr5:173233157 [GRCh38]
Chr5:172660160 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val) single nucleotide variant Atrial septal defect 7 [RCV001055047]|Atrial septal defect 7 [RCV002481996]|Cardiovascular phenotype [RCV002409458]|NKX2-5-related condition [RCV003396683]|not provided [RCV002255174] Chr5:173234896 [GRCh38]
Chr5:172661899 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_004387.4(NKX2-5):c.431T>C (p.Leu144Pro) single nucleotide variant Atrial septal defect 7 [RCV001212171] Chr5:173233113 [GRCh38]
Chr5:172660116 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.398C>A (p.Pro133His) single nucleotide variant not provided [RCV000998494] Chr5:173233146 [GRCh38]
Chr5:172660149 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.444G>A (p.Ala148=) single nucleotide variant Atrial septal defect 7 [RCV001467117] Chr5:173233100 [GRCh38]
Chr5:172660103 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.87C>G (p.Ala29=) single nucleotide variant not provided [RCV000933920] Chr5:173234997 [GRCh38]
Chr5:172662000 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.639G>C (p.Pro213=) single nucleotide variant Atrial septal defect 7 [RCV000935538] Chr5:173232905 [GRCh38]
Chr5:172659908 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.261del (p.Ala88fs) deletion Atrial septal defect 7 [RCV001730133] Chr5:173234823 [GRCh38]
Chr5:172661826 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.736A>G (p.Asn246Asp) single nucleotide variant not provided [RCV003234415] Chr5:173232808 [GRCh38]
Chr5:172659811 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.445dup (p.Gln149fs) duplication not provided [RCV001555580] Chr5:173233098..173233099 [GRCh38]
Chr5:172660101..172660102 [GRCh37]
Chr5:5q35.1		 likely pathogenic
NM_004387.4(NKX2-5):c.695G>C (p.Gly232Ala) single nucleotide variant Cardiovascular phenotype [RCV002368590]|not provided [RCV001569194] Chr5:173232849 [GRCh38]
Chr5:172659852 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.556_560del (p.Phe186fs) deletion not provided [RCV001008425] Chr5:173232984..173232988 [GRCh38]
Chr5:172659987..172659991 [GRCh37]
Chr5:5q35.1		 likely pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 copy number gain 5q35 microduplication syndrome [RCV001263227] Chr5:170805664..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
NM_004387.4(NKX2-5):c.335-323A>T single nucleotide variant not provided [RCV001716505] Chr5:173233532 [GRCh38]
Chr5:172660535 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.335-682G>C single nucleotide variant not provided [RCV001657633] Chr5:173233891 [GRCh38]
Chr5:172660894 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.335-315_335-311del deletion not provided [RCV001593967] Chr5:173233520..173233524 [GRCh38]
Chr5:172660523..172660527 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.885C>G (p.Phe295Leu) single nucleotide variant Atrial septal defect 7 [RCV001066168]|Atrial septal defect 7 [RCV002482097]|Cardiovascular phenotype [RCV002374974] Chr5:173232659 [GRCh38]
Chr5:172659662 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.709T>C (p.Tyr237His) single nucleotide variant Atrial septal defect 7 [RCV001065033]|Cardiovascular phenotype [RCV003160536] Chr5:173232835 [GRCh38]
Chr5:172659838 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.335-311_335-303del deletion not provided [RCV001567937]|not specified [RCV001699817] Chr5:173233512..173233520 [GRCh38]
Chr5:172660515..172660523 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NC_000005.10:g.173235574C>A single nucleotide variant not provided [RCV001684598] Chr5:173235574 [GRCh38]
Chr5:172662577 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.335-82C>G single nucleotide variant not provided [RCV001566041] Chr5:173233291 [GRCh38]
Chr5:172660294 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.724G>A (p.Gly242Ser) single nucleotide variant Atrial septal defect 7 [RCV001049998]|Cardiovascular phenotype [RCV003283903] Chr5:173232820 [GRCh38]
Chr5:172659823 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.837C>T (p.Ser279=) single nucleotide variant Atrial septal defect 7 [RCV001443779] Chr5:173232707 [GRCh38]
Chr5:172659710 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.524T>C (p.Leu175Pro) single nucleotide variant Atrial septal defect 7 [RCV001235147]|not provided [RCV002504322] Chr5:173233020 [GRCh38]
Chr5:172660023 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.799G>A (p.Gly267Ser) single nucleotide variant Atrial septal defect 7 [RCV001202387] Chr5:173232745 [GRCh38]
Chr5:172659748 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.635C>G (p.Pro212Arg) single nucleotide variant Atrial septal defect 7 [RCV001068644]|Atrial septal defect 7 [RCV002482121]|not provided [RCV001593249] Chr5:173232909 [GRCh38]
Chr5:172659912 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.851C>T (p.Ala284Val) single nucleotide variant Atrial septal defect 7 [RCV001037090] Chr5:173232693 [GRCh38]
Chr5:172659696 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu) single nucleotide variant Atrial septal defect 7 [RCV001038821]|Atrial septal defect 7 [RCV002489557]|Cardiovascular phenotype [RCV002409381] Chr5:173232702 [GRCh38]
Chr5:172659705 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.706C>T (p.Pro236Ser) single nucleotide variant Atrial septal defect 7 [RCV001210751] Chr5:173232838 [GRCh38]
Chr5:172659841 [GRCh37]
Chr5:5q35.1		 uncertain significance
NC_000005.10:g.(?_173232549)_(173245300_?)del deletion Atrial septal defect 7 [RCV001032939] Chr5:172659552..172672303 [GRCh37]
Chr5:5q35.1		 pathogenic
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3		 pathogenic
NM_004387.4(NKX2-5):c.335-258C>G single nucleotide variant not provided [RCV001310885] Chr5:173233467 [GRCh38]
Chr5:172660470 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.439del (p.Gln147fs) deletion Tetralogy of Fallot [RCV001261993] Chr5:173233105 [GRCh38]
Chr5:172660108 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.804C>G (p.Tyr268Ter) single nucleotide variant Atrial septal defect 7 [RCV001313496] Chr5:173232740 [GRCh38]
Chr5:172659743 [GRCh37]
Chr5:5q35.1		 likely pathogenic|uncertain significance
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln) single nucleotide variant Atrial septal defect 7 [RCV001318738]|Atrial septal defect 7 [RCV002493668]|Cardiovascular phenotype [RCV002412026]|not provided [RCV001595076] Chr5:173234906 [GRCh38]
Chr5:172661909 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.521T>G (p.Val174Gly) single nucleotide variant Atrial septal defect 7 [RCV001320731]|Atrial septal defect 7 [RCV002499622] Chr5:173233023 [GRCh38]
Chr5:172660026 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.624_632del (p.Pro212_Pro214del) deletion Atrial septal defect 7 [RCV001305735] Chr5:173232912..173232920 [GRCh38]
Chr5:172659915..172659923 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.907G>T (p.Val303Phe) single nucleotide variant Atrial septal defect 7 [RCV001343963]|not provided [RCV001762579] Chr5:173232637 [GRCh38]
Chr5:172659640 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys) single nucleotide variant Atrial septal defect 7 [RCV001315155]|Atrial septal defect 7 [RCV002504484] Chr5:173232894 [GRCh38]
Chr5:172659897 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly) single nucleotide variant Atrial septal defect 7 [RCV001322934]|Atrial septal defect 7 [RCV002476516]|Cardiovascular phenotype [RCV002431920] Chr5:173234836 [GRCh38]
Chr5:172661839 [GRCh37]
Chr5:5q35.1		 uncertain significance
NC_000005.9:g.(?_172659552)_(172672303_?)dup duplication Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001323160] Chr5:172659552..172672303 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.462del (p.Glu154fs) deletion Atrial septal defect 7 [RCV001383345] Chr5:173233082 [GRCh38]
Chr5:172660085 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.723C>T (p.Tyr241=) single nucleotide variant Atrial septal defect 7 [RCV001396873] Chr5:173232821 [GRCh38]
Chr5:172659824 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.421C>G (p.Pro141Ala) single nucleotide variant Atrial septal defect 7 [RCV001362881] Chr5:173233123 [GRCh38]
Chr5:172660126 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.627GCC[7] (p.Pro213_Pro214dup) microsatellite Atrial septal defect 7 [RCV001371641]|Atrial septal defect 7 [RCV002493890] Chr5:173232902..173232903 [GRCh38]
Chr5:172659905..172659906 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.553T>C (p.Trp185Arg) single nucleotide variant Atrial septal defect 7 [RCV001344953]|Cardiovascular phenotype [RCV003284235] Chr5:173232991 [GRCh38]
Chr5:172659994 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.265G>C (p.Ala89Pro) single nucleotide variant Atrial septal defect 7 [RCV001344340] Chr5:173234819 [GRCh38]
Chr5:172661822 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.826G>A (p.Ala276Thr) single nucleotide variant Atrial septal defect 7 [RCV001361988] Chr5:173232718 [GRCh38]
Chr5:172659721 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.752A>G (p.Asn251Ser) single nucleotide variant Atrial septal defect 7 [RCV001343024]|not provided [RCV001762576] Chr5:173232792 [GRCh38]
Chr5:172659795 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.284G>T (p.Arg95Leu) single nucleotide variant Atrial septal defect 7 [RCV001302062]|Cardiovascular phenotype [RCV002437025] Chr5:173234800 [GRCh38]
Chr5:172661803 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.169G>T (p.Ala57Ser) single nucleotide variant Atrial septal defect 7 [RCV001321197]|Atrial septal defect 7 [RCV002476505]|not provided [RCV001773641] Chr5:173234915 [GRCh38]
Chr5:172661918 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.635C>T (p.Pro212Leu) single nucleotide variant Atrial septal defect 7 [RCV001363790]|Cardiovascular phenotype [RCV003298580] Chr5:173232909 [GRCh38]
Chr5:172659912 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_004387.4(NKX2-5):c.885C>A (p.Phe295Leu) single nucleotide variant Atrial septal defect 7 [RCV001352385] Chr5:173232659 [GRCh38]
Chr5:172659662 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.387C>T (p.Asn129=) single nucleotide variant Atrial septal defect 7 [RCV001394832]|Cardiovascular phenotype [RCV003298645] Chr5:173233157 [GRCh38]
Chr5:172660160 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.236C>G (p.Pro79Arg) single nucleotide variant Atrial septal defect 7 [RCV001371618] Chr5:173234848 [GRCh38]
Chr5:172661851 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.819T>A (p.Ala273=) single nucleotide variant Atrial septal defect 7 [RCV001494357] Chr5:173232725 [GRCh38]
Chr5:172659728 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.657G>C (p.Ala219=) single nucleotide variant Atrial septal defect 7 [RCV001504938] Chr5:173232887 [GRCh38]
Chr5:172659890 [GRCh37]
Chr5:5q35.1		 likely benign
NC_000005.10:g.173235491T>C single nucleotide variant Atrial septal defect 7 [RCV001515923] Chr5:173235491 [GRCh38]
Chr5:172662494 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.180G>A (p.Glu60=) single nucleotide variant Atrial septal defect 7 [RCV001522207]|Cardiovascular phenotype [RCV002414242] Chr5:173234904 [GRCh38]
Chr5:172661907 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_004387.4(NKX2-5):c.381G>A (p.Ala127=) single nucleotide variant Atrial septal defect 7 [RCV001483982]|Cardiovascular phenotype [RCV002368484] Chr5:173233163 [GRCh38]
Chr5:172660166 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.432C>T (p.Leu144=) single nucleotide variant Atrial septal defect 7 [RCV001472095] Chr5:173233112 [GRCh38]
Chr5:172660115 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.237G>T (p.Pro79=) single nucleotide variant Atrial septal defect 7 [RCV001443514] Chr5:173234847 [GRCh38]
Chr5:172661850 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.281del (p.Pro94fs) deletion Atrial septal defect 7 [RCV001381274] Chr5:173234803 [GRCh38]
Chr5:172661806 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.645C>T (p.Ala215=) single nucleotide variant Atrial septal defect 7 [RCV001407557] Chr5:173232899 [GRCh38]
Chr5:172659902 [GRCh37]
Chr5:5q35.1		 likely benign
NC_000005.9:g.(?_172662074)_172662527del deletion Atrial septal defect 7 [RCV001380928]   pathogenic
NM_004387.4(NKX2-5):c.939G>A (p.Ser313=) single nucleotide variant Atrial septal defect 7 [RCV001439165]|Cardiovascular phenotype [RCV002377713] Chr5:173232605 [GRCh38]
Chr5:172659608 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.894G>A (p.Gly298=) single nucleotide variant Atrial septal defect 7 [RCV001505691] Chr5:173232650 [GRCh38]
Chr5:172659653 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.561G>A (p.Gln187=) single nucleotide variant Atrial septal defect 7 [RCV001499135]|Cardiovascular phenotype [RCV002343679]|not provided [RCV001725219] Chr5:173232983 [GRCh38]
Chr5:172659986 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.96G>A (p.Glu32=) single nucleotide variant Atrial septal defect 7 [RCV001465434] Chr5:173234988 [GRCh38]
Chr5:172661991 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.234A>T (p.Ser78=) single nucleotide variant Atrial septal defect 7 [RCV001473674] Chr5:173234850 [GRCh38]
Chr5:172661853 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.-106A>G single nucleotide variant not provided [RCV001654844] Chr5:173235189 [GRCh38]
Chr5:172662192 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.957T>C (p.His319=) single nucleotide variant Atrial septal defect 7 [RCV001491120]|Cardiovascular phenotype [RCV002384809] Chr5:173232587 [GRCh38]
Chr5:172659590 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.335-315A>T single nucleotide variant not provided [RCV001671720] Chr5:173233524 [GRCh38]
Chr5:172660527 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.78C>T (p.Ser26=) single nucleotide variant Atrial septal defect 7 [RCV001487839] Chr5:173235006 [GRCh38]
Chr5:172662009 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.282A>G (p.Pro94=) single nucleotide variant Atrial septal defect 7 [RCV001485259]|Cardiovascular phenotype [RCV002439163] Chr5:173234802 [GRCh38]
Chr5:172661805 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.534G>A (p.Thr178=) single nucleotide variant Atrial septal defect 7 [RCV001470062]|Cardiovascular phenotype [RCV002350960] Chr5:173233010 [GRCh38]
Chr5:172660013 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.591G>A (p.Arg197=) single nucleotide variant Atrial septal defect 7 [RCV001405767]|Cardiovascular phenotype [RCV002358903] Chr5:173232953 [GRCh38]
Chr5:172659956 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.117G>A (p.Ala39=) single nucleotide variant Atrial septal defect 7 [RCV001469394] Chr5:173234967 [GRCh38]
Chr5:172661970 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.270del (p.Ala91fs) deletion Atrial septal defect 7 [RCV001380091] Chr5:173234814 [GRCh38]
Chr5:172661817 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.458T>C (p.Leu153Pro) single nucleotide variant Atrial septal defect 7 [RCV001376992] Chr5:173233086 [GRCh38]
Chr5:172660089 [GRCh37]
Chr5:5q35.1		 likely pathogenic
NM_004387.4(NKX2-5):c.598_599del (p.Gln200fs) deletion Atrial septal defect 7 [RCV001385601] Chr5:173232945..173232946 [GRCh38]
Chr5:172659948..172659949 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.64C>A (p.Gln22Lys) single nucleotide variant not specified [RCV002248048] Chr5:173235020 [GRCh38]
Chr5:172662023 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.683A>C (p.Lys228Thr) single nucleotide variant not provided [RCV002259535] Chr5:173232861 [GRCh38]
Chr5:172659864 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.410G>C (p.Arg137Pro) single nucleotide variant not provided [RCV001756421] Chr5:173233134 [GRCh38]
Chr5:172660137 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.380C>T (p.Ala127Val) single nucleotide variant not provided [RCV001769259] Chr5:173233164 [GRCh38]
Chr5:172660167 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.223C>T (p.Arg75Cys) single nucleotide variant not provided [RCV001754501] Chr5:173234861 [GRCh38]
Chr5:172661864 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.335-204del deletion Hypothyroidism, congenital, nongoitrous, 5 [RCV001775361] Chr5:173233413 [GRCh38]
Chr5:172660416 [GRCh37]
Chr5:5q35.1		 likely pathogenic
NM_004387.4(NKX2-5):c.677A>G (p.Asp226Gly) single nucleotide variant not provided [RCV001765081] Chr5:173232867 [GRCh38]
Chr5:172659870 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.854C>T (p.Thr285Ile) single nucleotide variant not provided [RCV001773341] Chr5:173232690 [GRCh38]
Chr5:172659693 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.685C>G (p.Pro229Ala) single nucleotide variant Atrial septal defect 7 [RCV003509687]|Cardiovascular phenotype [RCV003355536]|not provided [RCV001752796] Chr5:173232859 [GRCh38]
Chr5:172659862 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.893G>A (p.Gly298Glu) single nucleotide variant Atrial septal defect 7 [RCV002488564]|not provided [RCV001763418] Chr5:173232651 [GRCh38]
Chr5:172659654 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.419A>G (p.Lys140Arg) single nucleotide variant not provided [RCV001753932] Chr5:173233125 [GRCh38]
Chr5:172660128 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.530_536del (p.Leu177fs) deletion not provided [RCV001784749] Chr5:173233008..173233014 [GRCh38]
Chr5:172660011..172660017 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.523C>G (p.Leu175Val) single nucleotide variant not provided [RCV001757840] Chr5:173233021 [GRCh38]
Chr5:172660024 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.950C>T (p.Thr317Met) single nucleotide variant Atrial septal defect 7 [RCV002005961]|Cardiovascular phenotype [RCV003170377] Chr5:173232594 [GRCh38]
Chr5:172659597 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.833C>T (p.Pro278Leu) single nucleotide variant Atrial septal defect 7 [RCV001873054] Chr5:173232711 [GRCh38]
Chr5:172659714 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.847C>G (p.Pro283Ala) single nucleotide variant Atrial septal defect 7 [RCV001915402] Chr5:173232697 [GRCh38]
Chr5:172659700 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.510G>C (p.Gln170His) single nucleotide variant Atrial septal defect 7 [RCV001914466]|Atrial septal defect 7 [RCV002503460] Chr5:173233034 [GRCh38]
Chr5:172660037 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.494C>A (p.Ala165Asp) single nucleotide variant Atrial septal defect 7 [RCV001908679] Chr5:173233050 [GRCh38]
Chr5:172660053 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.563A>C (p.Asn188Thr) single nucleotide variant Atrial septal defect 7 [RCV002040894] Chr5:173232981 [GRCh38]
Chr5:172659984 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.467G>A (p.Arg156His) single nucleotide variant Atrial septal defect 7 [RCV001928696] Chr5:173233077 [GRCh38]
Chr5:172660080 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.344C>T (p.Ala115Val) single nucleotide variant Atrial septal defect 7 [RCV001892780] Chr5:173233200 [GRCh38]
Chr5:172660203 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.125C>T (p.Ala42Val) single nucleotide variant Atrial septal defect 7 [RCV001928843] Chr5:173234959 [GRCh38]
Chr5:172661962 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.627GCC[3] (p.Pro213_Pro214del) microsatellite Atrial septal defect 7 [RCV001947121]|Cardiovascular phenotype [RCV003164178] Chr5:173232903..173232908 [GRCh38]
Chr5:172659906..172659911 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_004387.4(NKX2-5):c.548A>G (p.Lys183Arg) single nucleotide variant Atrial septal defect 7 [RCV002003961] Chr5:173232996 [GRCh38]
Chr5:172659999 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.608_616dup (p.Glu203_Val205dup) duplication Atrial septal defect 7 [RCV001891385] Chr5:173232927..173232928 [GRCh38]
Chr5:172659930..172659931 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.829G>T (p.Gly277Trp) single nucleotide variant Atrial septal defect 7 [RCV001984845] Chr5:173232715 [GRCh38]
Chr5:172659718 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.464G>C (p.Arg155Pro) single nucleotide variant Atrial septal defect 7 [RCV001871087] Chr5:173233080 [GRCh38]
Chr5:172660083 [GRCh37]
Chr5:5q35.1		 uncertain significance
GRCh37/hg19 5q34-35.1(chr5:164207156-172799124) copy number loss not specified [RCV002053537] Chr5:164207156..172799124 [GRCh37]
Chr5:5q34-35.1		 pathogenic
NM_004387.4(NKX2-5):c.772G>A (p.Gly258Ser) single nucleotide variant Atrial septal defect 7 [RCV001926938] Chr5:173232772 [GRCh38]
Chr5:172659775 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.434dup (p.Ser146fs) duplication Atrial septal defect 7 [RCV001895301] Chr5:173233109..173233110 [GRCh38]
Chr5:172660112..172660113 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.512T>C (p.Leu171Pro) single nucleotide variant Atrial septal defect 7 [RCV002007293] Chr5:173233032 [GRCh38]
Chr5:172660035 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.847_849dup (p.Pro283dup) duplication Atrial septal defect 7 [RCV001873051] Chr5:173232694..173232695 [GRCh38]
Chr5:172659697..172659698 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.46G>A (p.Asp16Asn) single nucleotide variant Atrial septal defect 7 [RCV001967393] Chr5:173235038 [GRCh38]
Chr5:172662041 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.224G>T (p.Arg75Leu) single nucleotide variant Atrial septal defect 7 [RCV001872366] Chr5:173234860 [GRCh38]
Chr5:172661863 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.167_186dup (p.Ala63fs) duplication Atrial septal defect 7 [RCV001967917]|Cardiovascular phenotype [RCV002397979]|not provided [RCV003134277] Chr5:173234897..173234898 [GRCh38]
Chr5:172661900..172661901 [GRCh37]
Chr5:5q35.1		 pathogenic|likely pathogenic
NM_004387.4(NKX2-5):c.744C>A (p.Tyr248Ter) single nucleotide variant Atrial septal defect 7 [RCV001913579] Chr5:173232800 [GRCh38]
Chr5:172659803 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.585del (p.Gln196fs) deletion Atrial septal defect 7 [RCV001911633] Chr5:173232959 [GRCh38]
Chr5:172659962 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.223C>G (p.Arg75Gly) single nucleotide variant Atrial septal defect 7 [RCV001907978] Chr5:173234861 [GRCh38]
Chr5:172661864 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.922A>G (p.Ile308Val) single nucleotide variant Atrial septal defect 7 [RCV001909888] Chr5:173232622 [GRCh38]
Chr5:172659625 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.433T>C (p.Phe145Leu) single nucleotide variant Atrial septal defect 7 [RCV002023478] Chr5:173233111 [GRCh38]
Chr5:172660114 [GRCh37]
Chr5:5q35.1		 likely pathogenic
NM_004387.4(NKX2-5):c.425G>A (p.Arg142His) single nucleotide variant Atrial septal defect 7 [RCV002005742] Chr5:173233119 [GRCh38]
Chr5:172660122 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.229C>T (p.Pro77Ser) single nucleotide variant Atrial septal defect 7 [RCV001984543] Chr5:173234855 [GRCh38]
Chr5:172661858 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.212del (p.Ala71fs) deletion Atrial septal defect 7 [RCV001941194]|Cardiovascular phenotype [RCV003303443] Chr5:173234872 [GRCh38]
Chr5:172661875 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.270dup (p.Ala91fs) duplication Atrial septal defect 7 [RCV001999853] Chr5:173234813..173234814 [GRCh38]
Chr5:172661816..172661817 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.423dup (p.Arg142fs) duplication Atrial septal defect 7 [RCV001944124] Chr5:173233120..173233121 [GRCh38]
Chr5:172660123..172660124 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.727G>A (p.Val243Met) single nucleotide variant Atrial septal defect 7 [RCV001997483] Chr5:173232817 [GRCh38]
Chr5:172659820 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.340_341del (p.Cys114fs) microsatellite Atrial septal defect 7 [RCV001942526] Chr5:173233203..173233204 [GRCh38]
Chr5:172660206..172660207 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.340_341dup (p.Leu116fs) microsatellite Atrial septal defect 7 [RCV001885642] Chr5:173233202..173233203 [GRCh38]
Chr5:172660205..172660206 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.671T>C (p.Val224Ala) single nucleotide variant Atrial septal defect 7 [RCV001878342] Chr5:173232873 [GRCh38]
Chr5:172659876 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.295G>T (p.Asp99Tyr) single nucleotide variant Atrial septal defect 7 [RCV001954580] Chr5:173234789 [GRCh38]
Chr5:172661792 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.167A>G (p.Tyr56Cys) single nucleotide variant Atrial septal defect 7 [RCV001992802] Chr5:173234917 [GRCh38]
Chr5:172661920 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.778_784dup (p.Ala262fs) duplication Atrial septal defect 7 [RCV001951013] Chr5:173232759..173232760 [GRCh38]
Chr5:172659762..172659763 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.370A>G (p.Lys124Glu) single nucleotide variant Atrial septal defect 7 [RCV001934418]|Atrial septal defect 7 [RCV002484696] Chr5:173233174 [GRCh38]
Chr5:172660177 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.377_378del (p.Glu126fs) microsatellite Atrial septal defect 7 [RCV001904166] Chr5:173233166..173233167 [GRCh38]
Chr5:172660169..172660170 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.968C>G (p.Ala323Gly) single nucleotide variant Atrial septal defect 7 [RCV002016197] Chr5:173232576 [GRCh38]
Chr5:172659579 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.886G>T (p.Gly296Cys) single nucleotide variant Atrial septal defect 7 [RCV001881261] Chr5:173232658 [GRCh38]
Chr5:172659661 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.481C>G (p.Arg161Gly) single nucleotide variant Atrial septal defect 7 [RCV001951742] Chr5:173233063 [GRCh38]
Chr5:172660066 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.940G>T (p.Gly314Ter) single nucleotide variant Atrial septal defect 7 [RCV001900499] Chr5:173232604 [GRCh38]
Chr5:172659607 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.334+19C>T single nucleotide variant Atrial septal defect 7 [RCV001923424] Chr5:173234731 [GRCh38]
Chr5:172661734 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.466C>T (p.Arg156Cys) single nucleotide variant Atrial septal defect 7 [RCV001980148]|Cardiovascular phenotype [RCV002331515] Chr5:173233078 [GRCh38]
Chr5:172660081 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.400C>T (p.Arg134Trp) single nucleotide variant Atrial septal defect 7 [RCV001878131] Chr5:173233144 [GRCh38]
Chr5:172660147 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.473A>G (p.Lys158Arg) single nucleotide variant Atrial septal defect 7 [RCV001902383] Chr5:173233071 [GRCh38]
Chr5:172660074 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.565C>T (p.Arg189Trp) single nucleotide variant Atrial septal defect 7 [RCV002033383] Chr5:173232979 [GRCh38]
Chr5:172659982 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.266C>A (p.Ala89Asp) single nucleotide variant Atrial septal defect 7 [RCV001865079] Chr5:173234818 [GRCh38]
Chr5:172661821 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.823C>T (p.Pro275Ser) single nucleotide variant Atrial septal defect 7 [RCV001925447]|not provided [RCV003225200] Chr5:173232721 [GRCh38]
Chr5:172659724 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.829G>C (p.Gly277Arg) single nucleotide variant Atrial septal defect 7 [RCV002027815]|Cardiovascular phenotype [RCV002425436] Chr5:173232715 [GRCh38]
Chr5:172659718 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.437C>A (p.Ser146Ter) single nucleotide variant Atrial septal defect 7 [RCV001938276] Chr5:173233107 [GRCh38]
Chr5:172660110 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.385A>G (p.Asn129Asp) single nucleotide variant Atrial septal defect 7 [RCV001933497] Chr5:173233159 [GRCh38]
Chr5:172660162 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val) single nucleotide variant Atrial septal defect 7 [RCV001955420]|Atrial septal defect 7 [RCV002484679]|Cardiovascular phenotype [RCV002334934]|not provided [RCV002275291] Chr5:173233050 [GRCh38]
Chr5:172660053 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr) single nucleotide variant Atrial septal defect 7 [RCV002018435]|Atrial septal defect 7 [RCV003336500]|Inborn genetic diseases [RCV002548773] Chr5:173232781 [GRCh38]
Chr5:172659784 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.872A>C (p.Asn291Thr) single nucleotide variant Atrial septal defect 7 [RCV001960073]|Cardiovascular phenotype [RCV002370558] Chr5:173232672 [GRCh38]
Chr5:172659675 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.356C>T (p.Ala119Val) single nucleotide variant Atrial septal defect 7 [RCV001905608]|Cardiovascular phenotype [RCV002458728] Chr5:173233188 [GRCh38]
Chr5:172660191 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_004387.4(NKX2-5):c.253_256dup (p.Phe86fs) duplication Atrial septal defect 7 [RCV001981524] Chr5:173234827..173234828 [GRCh38]
Chr5:172661830..172661831 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.230del (p.Pro77fs) deletion Atrial septal defect 7 [RCV001994587] Chr5:173234854 [GRCh38]
Chr5:172661857 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.733C>G (p.Leu245Val) single nucleotide variant Atrial septal defect 7 [RCV001900998] Chr5:173232811 [GRCh38]
Chr5:172659814 [GRCh37]
Chr5:5q35.1		 uncertain significance
NC_000005.9:g.(?_172659572)_(172662086_?)dup duplication Atrial septal defect 7 [RCV001920503] Chr5:172659572..172662086 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.257T>C (p.Phe86Ser) single nucleotide variant Atrial septal defect 7 [RCV002026496] Chr5:173234827 [GRCh38]
Chr5:172661830 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.200C>T (p.Pro67Leu) single nucleotide variant Atrial septal defect 7 [RCV001991449] Chr5:173234884 [GRCh38]
Chr5:172661887 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.491C>T (p.Ser164Leu) single nucleotide variant not provided [RCV002224258] Chr5:173233053 [GRCh38]
Chr5:172660056 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.84T>A (p.Ala28=) single nucleotide variant Atrial septal defect 7 [RCV002089679] Chr5:173235000 [GRCh38]
Chr5:172662003 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.849G>A (p.Pro283=) single nucleotide variant Atrial septal defect 7 [RCV002107601] Chr5:173232695 [GRCh38]
Chr5:172659698 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.48C>T (p.Asp16=) single nucleotide variant Atrial septal defect 7 [RCV002169397] Chr5:173235036 [GRCh38]
Chr5:172662039 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.335-5C>T single nucleotide variant Atrial septal defect 7 [RCV002195175] Chr5:173233214 [GRCh38]
Chr5:172660217 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.603T>G (p.Thr201=) single nucleotide variant Atrial septal defect 7 [RCV002093373]|Cardiovascular phenotype [RCV002352830] Chr5:173232941 [GRCh38]
Chr5:172659944 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.*296G>C single nucleotide variant Atrial septal defect 7 [RCV002216030] Chr5:173232273 [GRCh38]
Chr5:172659276 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.382G>C (p.Asp128His) single nucleotide variant not provided [RCV002211016] Chr5:173233162 [GRCh38]
Chr5:172660165 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.189G>A (p.Ala63=) single nucleotide variant Atrial septal defect 7 [RCV002079038]|Cardiovascular phenotype [RCV002409542] Chr5:173234895 [GRCh38]
Chr5:172661898 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.612G>A (p.Leu204=) single nucleotide variant Atrial septal defect 7 [RCV002170772]|Cardiovascular phenotype [RCV002352792] Chr5:173232932 [GRCh38]
Chr5:172659935 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.99C>G (p.Leu33=) single nucleotide variant Atrial septal defect 7 [RCV002168106]|Cardiovascular phenotype [RCV003161366] Chr5:173234985 [GRCh38]
Chr5:172661988 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.828C>G (p.Ala276=) single nucleotide variant Atrial septal defect 7 [RCV002212868] Chr5:173232716 [GRCh38]
Chr5:172659719 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.335-5dup duplication Atrial septal defect 7 [RCV002116072] Chr5:173233213..173233214 [GRCh38]
Chr5:172660216..172660217 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.915C>T (p.Ser305=) single nucleotide variant Atrial septal defect 7 [RCV002103883] Chr5:173232629 [GRCh38]
Chr5:172659632 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.828C>T (p.Ala276=) single nucleotide variant Atrial septal defect 7 [RCV002203884] Chr5:173232716 [GRCh38]
Chr5:172659719 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.558C>T (p.Phe186=) single nucleotide variant Atrial septal defect 7 [RCV002141681] Chr5:173232986 [GRCh38]
Chr5:172659989 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.885C>T (p.Phe295=) single nucleotide variant Atrial septal defect 7 [RCV002160610] Chr5:173232659 [GRCh38]
Chr5:172659662 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.420G>A (p.Lys140=) single nucleotide variant Atrial septal defect 7 [RCV002100500] Chr5:173233124 [GRCh38]
Chr5:172660127 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.409C>A (p.Arg137=) single nucleotide variant Atrial septal defect 7 [RCV002122562] Chr5:173233135 [GRCh38]
Chr5:172660138 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.489G>T (p.Leu163=) single nucleotide variant Atrial septal defect 7 [RCV002183163] Chr5:173233055 [GRCh38]
Chr5:172660058 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.15T>C (p.Pro5=) single nucleotide variant Atrial septal defect 7 [RCV002122332]|Cardiovascular phenotype [RCV002398227] Chr5:173235069 [GRCh38]
Chr5:172662072 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.686C>T (p.Pro229Leu) single nucleotide variant not provided [RCV003110011] Chr5:173232858 [GRCh38]
Chr5:172659861 [GRCh37]
Chr5:5q35.1		 uncertain significance
NC_000005.9:g.(?_172657631)_(172661899_?)del deletion Atrial septal defect 7 [RCV003113467] Chr5:172657631..172661899 [GRCh37]
Chr5:5q35.1		 pathogenic
NC_000005.9:g.(?_172659748)_(172666091_?)del deletion Atrial septal defect 7 [RCV003113468] Chr5:172659748..172666091 [GRCh37]
Chr5:5q35.1		 pathogenic
NC_000005.9:g.(?_172089144)_(172774583_?)del deletion Atrial septal defect 7 [RCV003113469] Chr5:172089144..172774583 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.494C>G (p.Ala165Gly) single nucleotide variant Atrial septal defect 7 [RCV003115647] Chr5:173233050 [GRCh38]
Chr5:172660053 [GRCh37]
Chr5:5q35.1		 uncertain significance
NC_000005.9:g.(?_171765373)_(172939426_?)dup duplication not provided [RCV003122302] Chr5:171765373..172939426 [GRCh37]
Chr5:5q35.1-35.2		 uncertain significance
NM_004387.4(NKX2-5):c.641C>T (p.Pro214Leu) single nucleotide variant Atrial septal defect 7 [RCV003121146] Chr5:173232903 [GRCh38]
Chr5:172659906 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.436T>C (p.Ser146Pro) single nucleotide variant not provided [RCV003152260] Chr5:173233108 [GRCh38]
Chr5:172660111 [GRCh37]
Chr5:5q35.1		 uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3 copy number gain See cases [RCV002292398] Chr5:170350336..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
NM_004387.4(NKX2-5):c.547A>C (p.Lys183Gln) single nucleotide variant Ventricular septal defect 3 [RCV002283655] Chr5:173232997 [GRCh38]
Chr5:172660000 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.737A>G (p.Asn246Ser) single nucleotide variant Atrial septal defect 7 [RCV003101669]|Ventricular septal defect 3 [RCV002289434] Chr5:173232807 [GRCh38]
Chr5:172659810 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.867C>G (p.Asn289Lys) single nucleotide variant not provided [RCV002283175] Chr5:173232677 [GRCh38]
Chr5:172659680 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.806G>A (p.Ser269Asn) single nucleotide variant Cardiovascular phenotype [RCV002419370] Chr5:173232738 [GRCh38]
Chr5:172659741 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.365T>C (p.Leu122Pro) single nucleotide variant Cardiovascular phenotype [RCV002452548] Chr5:173233179 [GRCh38]
Chr5:172660182 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.799G>C (p.Gly267Arg) single nucleotide variant Atrial septal defect 7 [RCV003099808]|Cardiovascular phenotype [RCV002419126] Chr5:173232745 [GRCh38]
Chr5:172659748 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.630G>C (p.Pro210=) single nucleotide variant Cardiovascular phenotype [RCV002368838] Chr5:173232914 [GRCh38]
Chr5:172659917 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.-2C>T single nucleotide variant Cardiovascular phenotype [RCV002435632] Chr5:173235085 [GRCh38]
Chr5:172662088 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.546C>G (p.Val182=) single nucleotide variant Cardiovascular phenotype [RCV002349764] Chr5:173232998 [GRCh38]
Chr5:172660001 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.511C>T (p.Leu171=) single nucleotide variant Cardiovascular phenotype [RCV002351541] Chr5:173233033 [GRCh38]
Chr5:172660036 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.549G>C (p.Lys183Asn) single nucleotide variant Atrial septal defect 7 [RCV003619774]|Cardiovascular phenotype [RCV002351608] Chr5:173232995 [GRCh38]
Chr5:172659998 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.501A>G (p.Glu167=) single nucleotide variant Cardiovascular phenotype [RCV002351390] Chr5:173233043 [GRCh38]
Chr5:172660046 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.816C>A (p.Ala272=) single nucleotide variant Cardiovascular phenotype [RCV002421463] Chr5:173232728 [GRCh38]
Chr5:172659731 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.286G>A (p.Ala96Thr) single nucleotide variant Cardiovascular phenotype [RCV002437668] Chr5:173234798 [GRCh38]
Chr5:172661801 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.487del (p.Leu163fs) deletion Atrial septal defect 7 [RCV002472192] Chr5:173233057 [GRCh38]
Chr5:172660060 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.353A>C (p.Lys118Thr) single nucleotide variant not provided [RCV002467201] Chr5:173233191 [GRCh38]
Chr5:172660194 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.529C>T (p.Leu177Phe) single nucleotide variant not provided [RCV002473422] Chr5:173233015 [GRCh38]
Chr5:172660018 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.751A>G (p.Asn251Asp) single nucleotide variant Atrial septal defect 7 [RCV002303689] Chr5:173232793 [GRCh38]
Chr5:172659796 [GRCh37]
Chr5:5q35.1		 uncertain significance
GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3 copy number gain not provided [RCV002474507] Chr5:150535183..172906793 [GRCh37]
Chr5:5q33.1-35.2		 pathogenic
NM_004387.4(NKX2-5):c.784G>T (p.Ala262Ser) single nucleotide variant Cardiovascular phenotype [RCV002412205] Chr5:173232760 [GRCh38]
Chr5:172659763 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.438G>A (p.Ser146=) single nucleotide variant Cardiovascular phenotype [RCV002333631] Chr5:173233106 [GRCh38]
Chr5:172660109 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.629C>G (p.Pro210Arg) single nucleotide variant Atrial septal defect 7 [RCV002304054] Chr5:173232915 [GRCh38]
Chr5:172659918 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.421C>A (p.Pro141Thr) single nucleotide variant Cardiovascular phenotype [RCV002328023] Chr5:173233123 [GRCh38]
Chr5:172660126 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.606G>A (p.Leu202=) single nucleotide variant Atrial septal defect 7 [RCV003509725]|Cardiovascular phenotype [RCV002358370] Chr5:173232938 [GRCh38]
Chr5:172659941 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.932G>A (p.Ser311Asn) single nucleotide variant Atrial septal defect 7 [RCV003103577]|Cardiovascular phenotype [RCV002371629] Chr5:173232612 [GRCh38]
Chr5:172659615 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.334+3G>A single nucleotide variant Cardiovascular phenotype [RCV002326589] Chr5:173234747 [GRCh38]
Chr5:172661750 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.199C>T (p.Pro67Ser) single nucleotide variant Cardiovascular phenotype [RCV002417069] Chr5:173234885 [GRCh38]
Chr5:172661888 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.351G>C (p.Gln117His) single nucleotide variant Cardiovascular phenotype [RCV002459311] Chr5:173233193 [GRCh38]
Chr5:172660196 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.770C>T (p.Pro257Leu) single nucleotide variant Cardiovascular phenotype [RCV002400631] Chr5:173232774 [GRCh38]
Chr5:172659777 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.687A>T (p.Pro229=) single nucleotide variant Cardiovascular phenotype [RCV002362216] Chr5:173232857 [GRCh38]
Chr5:172659860 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.100T>C (p.Ser34Pro) single nucleotide variant Cardiovascular phenotype [RCV002442246] Chr5:173234984 [GRCh38]
Chr5:172661987 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.900G>C (p.Leu300Phe) single nucleotide variant Cardiovascular phenotype [RCV002376392] Chr5:173232644 [GRCh38]
Chr5:172659647 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.926C>T (p.Pro309Leu) single nucleotide variant Atrial septal defect 7 [RCV002301693] Chr5:173232618 [GRCh38]
Chr5:172659621 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.693A>C (p.Leu231=) single nucleotide variant Cardiovascular phenotype [RCV002362409] Chr5:173232851 [GRCh38]
Chr5:172659854 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.630G>A (p.Pro210=) single nucleotide variant Cardiovascular phenotype [RCV002353970] Chr5:173232914 [GRCh38]
Chr5:172659917 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.780C>A (p.Gly260=) single nucleotide variant Cardiovascular phenotype [RCV002409935] Chr5:173232764 [GRCh38]
Chr5:172659767 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.126G>T (p.Ala42=) single nucleotide variant Cardiovascular phenotype [RCV002376148] Chr5:173234958 [GRCh38]
Chr5:172661961 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.252T>C (p.Ser84=) single nucleotide variant Atrial septal defect 7 [RCV003775287]|Cardiovascular phenotype [RCV002433151] Chr5:173234832 [GRCh38]
Chr5:172661835 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.899T>C (p.Leu300Ser) single nucleotide variant Cardiovascular phenotype [RCV002376315] Chr5:173232645 [GRCh38]
Chr5:172659648 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.485A>G (p.Tyr162Cys) single nucleotide variant Cardiovascular phenotype [RCV002340325] Chr5:173233059 [GRCh38]
Chr5:172660062 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.404C>G (p.Ala135Gly) single nucleotide variant Cardiovascular phenotype [RCV002321266] Chr5:173233140 [GRCh38]
Chr5:172660143 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.133T>C (p.Ser45Pro) single nucleotide variant Atrial septal defect 7 [RCV003774272]|Cardiovascular phenotype [RCV002387691] Chr5:173234951 [GRCh38]
Chr5:172661954 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.701C>T (p.Ser234Leu) single nucleotide variant Atrial septal defect 7 [RCV003120954]|Cardiovascular phenotype [RCV002364862]|not provided [RCV002464656] Chr5:173232843 [GRCh38]
Chr5:172659846 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.945G>C (p.Val315=) single nucleotide variant Cardiovascular phenotype [RCV002443484] Chr5:173232599 [GRCh38]
Chr5:172659602 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.817G>C (p.Ala273Pro) single nucleotide variant Atrial septal defect 7 [RCV003619784]|Cardiovascular phenotype [RCV002427808] Chr5:173232727 [GRCh38]
Chr5:172659730 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.248C>T (p.Ala83Val) single nucleotide variant Cardiovascular phenotype [RCV002430913] Chr5:173234836 [GRCh38]
Chr5:172661839 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.520G>A (p.Val174Met) single nucleotide variant Atrial septal defect 7 [RCV003619773]|Cardiovascular phenotype [RCV002340780] Chr5:173233024 [GRCh38]
Chr5:172660027 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.588G>A (p.Gln196=) single nucleotide variant Cardiovascular phenotype [RCV002353579] Chr5:173232956 [GRCh38]
Chr5:172659959 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.921G>A (p.Gly307=) single nucleotide variant Atrial septal defect 7 [RCV003100119]|Cardiovascular phenotype [RCV002371289] Chr5:173232623 [GRCh38]
Chr5:172659626 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.642T>G (p.Pro214=) single nucleotide variant Cardiovascular phenotype [RCV002361738] Chr5:173232902 [GRCh38]
Chr5:172659905 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.617G>A (p.Gly206Glu) single nucleotide variant Cardiovascular phenotype [RCV002353765] Chr5:173232927 [GRCh38]
Chr5:172659930 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.685C>A (p.Pro229Thr) single nucleotide variant Atrial septal defect 7 [RCV002301795] Chr5:173232859 [GRCh38]
Chr5:172659862 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.436T>A (p.Ser146Thr) single nucleotide variant Cardiovascular phenotype [RCV002333501]|not provided [RCV003128859] Chr5:173233108 [GRCh38]
Chr5:172660111 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.857C>T (p.Ala286Val) single nucleotide variant Cardiovascular phenotype [RCV002447898] Chr5:173232687 [GRCh38]
Chr5:172659690 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.787G>C (p.Ala263Pro) single nucleotide variant Cardiovascular phenotype [RCV002412313] Chr5:173232757 [GRCh38]
Chr5:172659760 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.317C>G (p.Pro106Arg) single nucleotide variant Cardiovascular phenotype [RCV002322716] Chr5:173234767 [GRCh38]
Chr5:172661770 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.928C>T (p.Gln310Ter) single nucleotide variant not provided [RCV002308959] Chr5:173232616 [GRCh38]
Chr5:172659619 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.565C>A (p.Arg189=) single nucleotide variant Atrial septal defect 7 [RCV003096830]|Cardiovascular phenotype [RCV002347308] Chr5:173232979 [GRCh38]
Chr5:172659982 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.567G>A (p.Arg189=) single nucleotide variant Atrial septal defect 7 [RCV003096838]|Cardiovascular phenotype [RCV002347419] Chr5:173232977 [GRCh38]
Chr5:172659980 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.528A>G (p.Lys176=) single nucleotide variant Cardiovascular phenotype [RCV002344494] Chr5:173233016 [GRCh38]
Chr5:172660019 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.346C>T (p.Leu116=) single nucleotide variant Cardiovascular phenotype [RCV002337499] Chr5:173233198 [GRCh38]
Chr5:172660201 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.697G>C (p.Asp233His) single nucleotide variant Cardiovascular phenotype [RCV002364643] Chr5:173232847 [GRCh38]
Chr5:172659850 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.876C>T (p.Phe292=) single nucleotide variant Cardiovascular phenotype [RCV002373612] Chr5:173232668 [GRCh38]
Chr5:172659671 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.267C>T (p.Ala89=) single nucleotide variant Cardiovascular phenotype [RCV002428887] Chr5:173234817 [GRCh38]
Chr5:172661820 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.739C>A (p.Pro247Thr) single nucleotide variant Cardiovascular phenotype [RCV002380491] Chr5:173232805 [GRCh38]
Chr5:172659808 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.702G>A (p.Ser234=) single nucleotide variant Cardiovascular phenotype [RCV002364921] Chr5:173232842 [GRCh38]
Chr5:172659845 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.87C>A (p.Ala29=) single nucleotide variant Cardiovascular phenotype [RCV002373698] Chr5:173234997 [GRCh38]
Chr5:172662000 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.495C>T (p.Ala165=) single nucleotide variant Cardiovascular phenotype [RCV002342784] Chr5:173233049 [GRCh38]
Chr5:172660052 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.124G>A (p.Ala42Thr) single nucleotide variant Atrial septal defect 7 [RCV002297844] Chr5:173234960 [GRCh38]
Chr5:172661963 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.464G>A (p.Arg155Gln) single nucleotide variant Cardiovascular phenotype [RCV002335071] Chr5:173233080 [GRCh38]
Chr5:172660083 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.259C>T (p.Pro87Ser) single nucleotide variant Atrial septal defect 7 [RCV003619799]|Cardiovascular phenotype [RCV002426202] Chr5:173234825 [GRCh38]
Chr5:172661828 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.207G>A (p.Leu69=) single nucleotide variant Atrial septal defect 7 [RCV003509757]|Cardiovascular phenotype [RCV002422289] Chr5:173234877 [GRCh38]
Chr5:172661880 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.585G>A (p.Arg195=) single nucleotide variant Cardiovascular phenotype [RCV002353396] Chr5:173232959 [GRCh38]
Chr5:172659962 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.504C>T (p.Arg168=) single nucleotide variant Cardiovascular phenotype [RCV002335717] Chr5:173233040 [GRCh38]
Chr5:172660043 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.848C>G (p.Pro283Arg) single nucleotide variant Atrial septal defect 7 [RCV002613606] Chr5:173232696 [GRCh38]
Chr5:172659699 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.548_556del (p.Lys183_Phe186delinsIle) deletion Atrial septal defect 7 [RCV003014696] Chr5:173232988..173232996 [GRCh38]
Chr5:172659991..172659999 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.182C>T (p.Ala61Val) single nucleotide variant Atrial septal defect 7 [RCV002904410] Chr5:173234902 [GRCh38]
Chr5:172661905 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.302A>T (p.Asp101Val) single nucleotide variant Atrial septal defect 7 [RCV002690534] Chr5:173234782 [GRCh38]
Chr5:172661785 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.410G>A (p.Arg137Gln) single nucleotide variant Atrial septal defect 7 [RCV002908990] Chr5:173233134 [GRCh38]
Chr5:172660137 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.512T>A (p.Leu171Gln) single nucleotide variant Atrial septal defect 7 [RCV002994825] Chr5:173233032 [GRCh38]
Chr5:172660035 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.385A>T (p.Asn129Tyr) single nucleotide variant Atrial septal defect 7 [RCV002756173] Chr5:173233159 [GRCh38]
Chr5:172660162 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.615G>A (p.Val205=) single nucleotide variant Atrial septal defect 7 [RCV003016598] Chr5:173232929 [GRCh38]
Chr5:172659932 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.168C>G (p.Tyr56Ter) single nucleotide variant Atrial septal defect 7 [RCV002819875] Chr5:173234916 [GRCh38]
Chr5:172661919 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.342C>A (p.Cys114Ter) single nucleotide variant Atrial septal defect 7 [RCV002889896] Chr5:173233202 [GRCh38]
Chr5:172660205 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.941G>A (p.Gly314Glu) single nucleotide variant Atrial septal defect 7 [RCV003081617] Chr5:173232603 [GRCh38]
Chr5:172659606 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.227C>A (p.Ala76Glu) single nucleotide variant Atrial septal defect 7 [RCV002570997] Chr5:173234857 [GRCh38]
Chr5:172661860 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.274T>G (p.Phe92Val) single nucleotide variant Atrial septal defect 7 [RCV003078470] Chr5:173234810 [GRCh38]
Chr5:172661813 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.858C>G (p.Ala286=) single nucleotide variant Atrial septal defect 7 [RCV002999725] Chr5:173232686 [GRCh38]
Chr5:172659689 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.572A>G (p.Tyr191Cys) single nucleotide variant Atrial septal defect 7 [RCV003037133] Chr5:173232972 [GRCh38]
Chr5:172659975 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.733C>T (p.Leu245Phe) single nucleotide variant Atrial septal defect 7 [RCV003053230] Chr5:173232811 [GRCh38]
Chr5:172659814 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.961A>G (p.Ile321Val) single nucleotide variant Inborn genetic diseases [RCV002739019] Chr5:173232583 [GRCh38]
Chr5:172659586 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.627G>A (p.Pro209=) single nucleotide variant Atrial septal defect 7 [RCV002847184] Chr5:173232917 [GRCh38]
Chr5:172659920 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.246T>C (p.Cys82=) single nucleotide variant Atrial septal defect 7 [RCV002639045] Chr5:173234838 [GRCh38]
Chr5:172661841 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.107G>A (p.Arg36His) single nucleotide variant Atrial septal defect 7 [RCV002644261] Chr5:173234977 [GRCh38]
Chr5:172661980 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.328A>T (p.Lys110Ter) single nucleotide variant Atrial septal defect 7 [RCV002801455] Chr5:173234756 [GRCh38]
Chr5:172661759 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.261C>T (p.Pro87=) single nucleotide variant Atrial septal defect 7 [RCV002933237] Chr5:173234823 [GRCh38]
Chr5:172661826 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.429G>A (p.Val143=) single nucleotide variant Atrial septal defect 7 [RCV002875517] Chr5:173233115 [GRCh38]
Chr5:172660118 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.690C>T (p.Cys230=) single nucleotide variant Atrial septal defect 7 [RCV002954062] Chr5:173232854 [GRCh38]
Chr5:172659857 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.156G>T (p.Lys52Asn) single nucleotide variant Atrial septal defect 7 [RCV002710888] Chr5:173234928 [GRCh38]
Chr5:172661931 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.776A>T (p.Tyr259Phe) single nucleotide variant Atrial septal defect 7 [RCV002917418] Chr5:173232768 [GRCh38]
Chr5:172659771 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.554G>A (p.Trp185Ter) single nucleotide variant Atrial septal defect 7 [RCV002894266] Chr5:173232990 [GRCh38]
Chr5:172659993 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.169G>C (p.Ala57Pro) single nucleotide variant Atrial septal defect 7 [RCV002595959]|Cardiovascular phenotype [RCV003274265]|not provided [RCV003130847] Chr5:173234915 [GRCh38]
Chr5:172661918 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.822C>A (p.Tyr274Ter) single nucleotide variant Atrial septal defect 7 [RCV002894557] Chr5:173232722 [GRCh38]
Chr5:172659725 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.477G>C (p.Gln159His) single nucleotide variant Atrial septal defect 7 [RCV002574591] Chr5:173233067 [GRCh38]
Chr5:172660070 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.551T>A (p.Ile184Asn) single nucleotide variant Atrial septal defect 7 [RCV003005548] Chr5:173232993 [GRCh38]
Chr5:172659996 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.178G>A (p.Glu60Lys) single nucleotide variant Atrial septal defect 7 [RCV002917438] Chr5:173234906 [GRCh38]
Chr5:172661909 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.693_700del (p.Asp233fs) deletion Atrial septal defect 7 [RCV003025938] Chr5:173232844..173232851 [GRCh38]
Chr5:172659847..172659854 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.367G>A (p.Glu123Lys) single nucleotide variant Atrial septal defect 7 [RCV002594261] Chr5:173233177 [GRCh38]
Chr5:172660180 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.651G>A (p.Arg217=) single nucleotide variant Atrial septal defect 7 [RCV003083751] Chr5:173232893 [GRCh38]
Chr5:172659896 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.14C>G (p.Pro5Arg) single nucleotide variant Atrial septal defect 7 [RCV003090716]|Cardiovascular phenotype [RCV003358081] Chr5:173235070 [GRCh38]
Chr5:172662073 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.841G>A (p.Ala281Thr) single nucleotide variant Atrial septal defect 7 [RCV002938334] Chr5:173232703 [GRCh38]
Chr5:172659706 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.613G>A (p.Val205Met) single nucleotide variant Atrial septal defect 7 [RCV003088040] Chr5:173232931 [GRCh38]
Chr5:172659934 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.340T>G (p.Cys114Gly) single nucleotide variant Atrial septal defect 7 [RCV003062067] Chr5:173233204 [GRCh38]
Chr5:172660207 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.730G>A (p.Gly244Ser) single nucleotide variant Atrial septal defect 7 [RCV003044814] Chr5:173232814 [GRCh38]
Chr5:172659817 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.816C>T (p.Ala272=) single nucleotide variant Atrial septal defect 7 [RCV003086379] Chr5:173232728 [GRCh38]
Chr5:172659731 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.842C>T (p.Ala281Val) single nucleotide variant Atrial septal defect 7 [RCV003060020] Chr5:173232702 [GRCh38]
Chr5:172659705 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.299C>T (p.Pro100Leu) single nucleotide variant Atrial septal defect 7 [RCV002833755] Chr5:173234785 [GRCh38]
Chr5:172661788 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.465G>A (p.Arg155=) single nucleotide variant Atrial septal defect 7 [RCV003090742] Chr5:173233079 [GRCh38]
Chr5:172660082 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.343G>C (p.Ala115Pro) single nucleotide variant Atrial septal defect 7 [RCV003090837] Chr5:173233201 [GRCh38]
Chr5:172660204 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.335-18C>T single nucleotide variant Atrial septal defect 7 [RCV002580235] Chr5:173233227 [GRCh38]
Chr5:172660230 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.416G>A (p.Arg139Lys) single nucleotide variant Atrial septal defect 7 [RCV003087655]|Cardiovascular phenotype [RCV003161753] Chr5:173233128 [GRCh38]
Chr5:172660131 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.283C>G (p.Arg95Gly) single nucleotide variant Atrial septal defect 7 [RCV003062839] Chr5:173234801 [GRCh38]
Chr5:172661804 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.578G>A (p.Cys193Tyr) single nucleotide variant Atrial septal defect 7 [RCV002576650] Chr5:173232966 [GRCh38]
Chr5:172659969 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.739C>G (p.Pro247Ala) single nucleotide variant Atrial septal defect 7 [RCV002967155]|Inborn genetic diseases [RCV002967156] Chr5:173232805 [GRCh38]
Chr5:172659808 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.858C>T (p.Ala286=) single nucleotide variant Atrial septal defect 7 [RCV003066597] Chr5:173232686 [GRCh38]
Chr5:172659689 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.417del (p.Lys140fs) deletion Atrial septal defect 7 [RCV003051877] Chr5:173233127 [GRCh38]
Chr5:172660130 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.325G>A (p.Glu109Lys) single nucleotide variant Atrial septal defect 7 [RCV003069451] Chr5:173234759 [GRCh38]
Chr5:172661762 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.406C>A (p.Arg136=) single nucleotide variant Atrial septal defect 7 [RCV002604691] Chr5:173233138 [GRCh38]
Chr5:172660141 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.704C>T (p.Ala235Val) single nucleotide variant Atrial septal defect 7 [RCV002590261] Chr5:173232840 [GRCh38]
Chr5:172659843 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.196C>T (p.Leu66Phe) single nucleotide variant not provided [RCV003131808] Chr5:173234888 [GRCh38]
Chr5:172661891 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.931A>G (p.Ser311Gly) single nucleotide variant Cardiovascular phenotype [RCV003172159] Chr5:173232613 [GRCh38]
Chr5:172659616 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.647G>A (p.Arg216His) single nucleotide variant not provided [RCV003133034] Chr5:173232897 [GRCh38]
Chr5:172659900 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.382G>A (p.Asp128Asn) single nucleotide variant Cardiovascular phenotype [RCV003172152] Chr5:173233162 [GRCh38]
Chr5:172660165 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.435C>G (p.Phe145Leu) single nucleotide variant Cardiovascular phenotype [RCV003172153] Chr5:173233109 [GRCh38]
Chr5:172660112 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.531C>T (p.Leu177=) single nucleotide variant Cardiovascular phenotype [RCV003172154] Chr5:173233013 [GRCh38]
Chr5:172660016 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.835T>G (p.Ser279Ala) single nucleotide variant Cardiovascular phenotype [RCV003172155] Chr5:173232709 [GRCh38]
Chr5:172659712 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.741C>G (p.Pro247=) single nucleotide variant Cardiovascular phenotype [RCV003172156] Chr5:173232803 [GRCh38]
Chr5:172659806 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.554G>C (p.Trp185Ser) single nucleotide variant Cardiovascular phenotype [RCV003172157] Chr5:173232990 [GRCh38]
Chr5:172659993 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.520G>T (p.Val174Leu) single nucleotide variant Cardiovascular phenotype [RCV003172158] Chr5:173233024 [GRCh38]
Chr5:172660027 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.335-1G>A single nucleotide variant not provided [RCV003223950] Chr5:173233210 [GRCh38]
Chr5:172660213 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.664G>C (p.Val222Leu) single nucleotide variant Cardiovascular phenotype [RCV003306591] Chr5:173232880 [GRCh38]
Chr5:172659883 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.863C>T (p.Ala288Val) single nucleotide variant Cardiovascular phenotype [RCV003306592] Chr5:173232681 [GRCh38]
Chr5:172659684 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.746del (p.Gly249fs) deletion Atrial septal defect 7 [RCV003340736] Chr5:173232798 [GRCh38]
Chr5:172659801 [GRCh37]
Chr5:5q35.1		 likely pathogenic
NM_004387.4(NKX2-5):c.117_164dup (p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeuAlaAlaPheLysProGluAla) duplication Cardiovascular phenotype [RCV003358387] Chr5:173234919..173234920 [GRCh38]
Chr5:172661922..172661923 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.480G>T (p.Gln160His) single nucleotide variant Cardiovascular phenotype [RCV003358386] Chr5:173233064 [GRCh38]
Chr5:172660067 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.380C>G (p.Ala127Gly) single nucleotide variant Atrial septal defect 7 [RCV003509812]|Cardiovascular phenotype [RCV003360660] Chr5:173233164 [GRCh38]
Chr5:172660167 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.390G>A (p.Ala130=) single nucleotide variant Cardiovascular phenotype [RCV003360659] Chr5:173233154 [GRCh38]
Chr5:172660157 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.199C>G (p.Pro67Ala) single nucleotide variant Cardiovascular phenotype [RCV003360661] Chr5:173234885 [GRCh38]
Chr5:172661888 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.97C>T (p.Leu33Phe) single nucleotide variant Cardiovascular phenotype [RCV003360656] Chr5:173234987 [GRCh38]
Chr5:172661990 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.435C>A (p.Phe145Leu) single nucleotide variant not provided [RCV003332851] Chr5:173233109 [GRCh38]
Chr5:172660112 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.888C>A (p.Gly296=) single nucleotide variant Atrial septal defect 7 [RCV003875270] Chr5:173232656 [GRCh38]
Chr5:172659659 [GRCh37]
Chr5:5q35.1		 likely benign
GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1 copy number loss not provided [RCV003485492] Chr5:171836503..176517734 [GRCh37]
Chr5:5q35.1-35.2		 pathogenic
NM_004387.4(NKX2-5):c.143T>C (p.Leu48Pro) single nucleotide variant Atrial septal defect 7 [RCV003874305] Chr5:173234941 [GRCh38]
Chr5:172661944 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.492_494del (p.Ala165del) deletion Conotruncal heart malformations [RCV003486385] Chr5:173233050..173233052 [GRCh38]
Chr5:172660053..172660055 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.335-299_335-297dup duplication not provided [RCV003428721] Chr5:173233505..173233506 [GRCh38]
Chr5:172660508..172660509 [GRCh37]
Chr5:5q35.1		 benign
NM_004387.4(NKX2-5):c.505G>T (p.Asp169Tyr) single nucleotide variant not provided [RCV003443693] Chr5:173233039 [GRCh38]
Chr5:172660042 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.447G>A (p.Gln149=) single nucleotide variant not provided [RCV003430008] Chr5:173233097 [GRCh38]
Chr5:172660100 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.583CGGCAG[1] (p.195RQ[1]) microsatellite Atrial septal defect 7 [RCV003510333] Chr5:173232950..173232955 [GRCh38]
Chr5:172659953..172659958 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.597C>A (p.Asp199Glu) single nucleotide variant Atrial septal defect 7 [RCV003510954] Chr5:173232947 [GRCh38]
Chr5:172659950 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.314_321del (p.Asp105fs) deletion Atrial septal defect 7 [RCV003509980] Chr5:173234763..173234770 [GRCh38]
Chr5:172661766..172661773 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.966A>G (p.Arg322=) single nucleotide variant Atrial septal defect 7 [RCV003510560] Chr5:173232578 [GRCh38]
Chr5:172659581 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.931A>C (p.Ser311Arg) single nucleotide variant Atrial septal defect 7 [RCV003509215] Chr5:173232613 [GRCh38]
Chr5:172659616 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.10A>G (p.Ser4Gly) single nucleotide variant Atrial septal defect 7 [RCV003509233] Chr5:173235074 [GRCh38]
Chr5:172662077 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.381G>T (p.Ala127=) single nucleotide variant Atrial septal defect 7 [RCV003510152] Chr5:173233163 [GRCh38]
Chr5:172660166 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.947C>A (p.Ser316Tyr) single nucleotide variant Atrial septal defect 7 [RCV003511267] Chr5:173232597 [GRCh38]
Chr5:172659600 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.584G>C (p.Arg195Pro) single nucleotide variant Atrial septal defect 7 [RCV003511335] Chr5:173232960 [GRCh38]
Chr5:172659963 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.694_710dup (p.Tyr237Ter) duplication Atrial septal defect 7 [RCV003510133] Chr5:173232833..173232834 [GRCh38]
Chr5:172659836..172659837 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.302A>G (p.Asp101Gly) single nucleotide variant Atrial septal defect 7 [RCV003510378] Chr5:173234782 [GRCh38]
Chr5:172661785 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.300C>G (p.Pro100=) single nucleotide variant Atrial septal defect 7 [RCV003827201] Chr5:173234784 [GRCh38]
Chr5:172661787 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.477G>T (p.Gln159His) single nucleotide variant Atrial septal defect 7 [RCV003510477] Chr5:173233067 [GRCh38]
Chr5:172660070 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.550A>C (p.Ile184Leu) single nucleotide variant Atrial septal defect 7 [RCV003510303] Chr5:173232994 [GRCh38]
Chr5:172659997 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.484T>A (p.Tyr162Asn) single nucleotide variant Atrial septal defect 7 [RCV003510415] Chr5:173233060 [GRCh38]
Chr5:172660063 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.918C>T (p.Pro306=) single nucleotide variant Atrial septal defect 7 [RCV003511052] Chr5:173232626 [GRCh38]
Chr5:172659629 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.871A>T (p.Asn291Tyr) single nucleotide variant Atrial septal defect 7 [RCV003509023] Chr5:173232673 [GRCh38]
Chr5:172659676 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.335-6C>T single nucleotide variant Atrial septal defect 7 [RCV003509100] Chr5:173233215 [GRCh38]
Chr5:172660218 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.279T>A (p.Tyr93Ter) single nucleotide variant Atrial septal defect 7 [RCV003510652] Chr5:173234805 [GRCh38]
Chr5:172661808 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.629_648del (p.Pro210fs) deletion Atrial septal defect 7 [RCV003510261] Chr5:173232896..173232915 [GRCh38]
Chr5:172659899..172659918 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.747_748dup (p.Tyr250fs) duplication Atrial septal defect 7 [RCV003510006] Chr5:173232795..173232796 [GRCh38]
Chr5:172659798..172659799 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.335-16C>T single nucleotide variant Atrial septal defect 7 [RCV003509362] Chr5:173233225 [GRCh38]
Chr5:172660228 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.542dup (p.Val182fs) duplication Atrial septal defect 7 [RCV003511220] Chr5:173233001..173233002 [GRCh38]
Chr5:172660004..172660005 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.559C>G (p.Gln187Glu) single nucleotide variant Atrial septal defect 7 [RCV003510396] Chr5:173232985 [GRCh38]
Chr5:172659988 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.582G>A (p.Lys194=) single nucleotide variant Atrial septal defect 7 [RCV003511050] Chr5:173232962 [GRCh38]
Chr5:172659965 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.622C>T (p.Pro208Ser) single nucleotide variant Atrial septal defect 7 [RCV003511071] Chr5:173232922 [GRCh38]
Chr5:172659925 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.813T>A (p.Thr271=) single nucleotide variant Atrial septal defect 7 [RCV003509986] Chr5:173232731 [GRCh38]
Chr5:172659734 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.475C>G (p.Gln159Glu) single nucleotide variant Atrial septal defect 7 [RCV003511156] Chr5:173233069 [GRCh38]
Chr5:172660072 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.891C>T (p.Val297=) single nucleotide variant Atrial septal defect 7 [RCV003510136] Chr5:173232653 [GRCh38]
Chr5:172659656 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.713C>T (p.Ala238Val) single nucleotide variant Atrial septal defect 7 [RCV003832997] Chr5:173232831 [GRCh38]
Chr5:172659834 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.322G>A (p.Ala108Thr) single nucleotide variant Atrial septal defect 7 [RCV003619525] Chr5:173234762 [GRCh38]
Chr5:172661765 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.400C>G (p.Arg134Gly) single nucleotide variant Atrial septal defect 7 [RCV003619956] Chr5:173233144 [GRCh38]
Chr5:172660147 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.291C>A (p.Tyr97Ter) single nucleotide variant Atrial septal defect 7 [RCV003620674] Chr5:173234793 [GRCh38]
Chr5:172661796 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.649A>G (p.Arg217Gly) single nucleotide variant Atrial septal defect 7 [RCV003620397] Chr5:173232895 [GRCh38]
Chr5:172659898 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.658G>A (p.Val220Met) single nucleotide variant Atrial septal defect 7 [RCV003620693] Chr5:173232886 [GRCh38]
Chr5:172659889 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.315C>T (p.Asp105=) single nucleotide variant Atrial septal defect 7 [RCV003620719] Chr5:173234769 [GRCh38]
Chr5:172661772 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.457C>G (p.Leu153Val) single nucleotide variant Atrial septal defect 7 [RCV003620754] Chr5:173233087 [GRCh38]
Chr5:172660090 [GRCh37]
Chr5:5q35.1		 likely pathogenic
NM_004387.4(NKX2-5):c.23C>G (p.Thr8Arg) single nucleotide variant Atrial septal defect 7 [RCV003620755] Chr5:173235061 [GRCh38]
Chr5:172662064 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.236C>A (p.Pro79Gln) single nucleotide variant Atrial septal defect 7 [RCV003620481] Chr5:173234848 [GRCh38]
Chr5:172661851 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.848C>T (p.Pro283Leu) single nucleotide variant Atrial septal defect 7 [RCV003619318] Chr5:173232696 [GRCh38]
Chr5:172659699 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.211G>C (p.Ala71Pro) single nucleotide variant Atrial septal defect 7 [RCV003619378] Chr5:173234873 [GRCh38]
Chr5:172661876 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.64C>G (p.Gln22Glu) single nucleotide variant Atrial septal defect 7 [RCV003620428] Chr5:173235020 [GRCh38]
Chr5:172662023 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.923T>C (p.Ile308Thr) single nucleotide variant Atrial septal defect 7 [RCV003619473] Chr5:173232621 [GRCh38]
Chr5:172659624 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.506A>G (p.Asp169Gly) single nucleotide variant Atrial septal defect 7 [RCV003619510] Chr5:173233038 [GRCh38]
Chr5:172660041 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.957T>A (p.His319Gln) single nucleotide variant Atrial septal defect 7 [RCV003619559] Chr5:173232587 [GRCh38]
Chr5:172659590 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.701C>G (p.Ser234Trp) single nucleotide variant Atrial septal defect 7 [RCV003619568] Chr5:173232843 [GRCh38]
Chr5:172659846 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.335-3C>T single nucleotide variant Atrial septal defect 7 [RCV003619554] Chr5:173233212 [GRCh38]
Chr5:172660215 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.132C>G (p.Ser44=) single nucleotide variant Atrial septal defect 7 [RCV003620000] Chr5:173234952 [GRCh38]
Chr5:172661955 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.513G>A (p.Leu171=) single nucleotide variant Atrial septal defect 7 [RCV003620004] Chr5:173233031 [GRCh38]
Chr5:172660034 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.369G>A (p.Glu123=) single nucleotide variant Atrial septal defect 7 [RCV003620440] Chr5:173233175 [GRCh38]
Chr5:172660178 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.401G>A (p.Arg134Gln) single nucleotide variant Atrial septal defect 7 [RCV003620468] Chr5:173233143 [GRCh38]
Chr5:172660146 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.192G>C (p.Pro64=) single nucleotide variant Atrial septal defect 7 [RCV003834859] Chr5:173234892 [GRCh38]
Chr5:172661895 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.861C>A (p.Ala287=) single nucleotide variant Atrial septal defect 7 [RCV003822560] Chr5:173232683 [GRCh38]
Chr5:172659686 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.177C>A (p.Pro59=) single nucleotide variant Atrial septal defect 7 [RCV003620969] Chr5:173234907 [GRCh38]
Chr5:172661910 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.625_646del (p.Pro209fs) deletion Atrial septal defect 7 [RCV003869443] Chr5:173232898..173232919 [GRCh38]
Chr5:172659901..172659922 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.646del (p.Arg216fs) deletion Atrial septal defect 7 [RCV003621020] Chr5:173232898 [GRCh38]
Chr5:172659901 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_004387.4(NKX2-5):c.699C>T (p.Asp233=) single nucleotide variant Atrial septal defect 7 [RCV003621404] Chr5:173232845 [GRCh38]
Chr5:172659848 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.862G>A (p.Ala288Thr) single nucleotide variant Atrial septal defect 7 [RCV003860078] Chr5:173232682 [GRCh38]
Chr5:172659685 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.335-143G>C single nucleotide variant NKX2-5-related condition [RCV003983426] Chr5:173233352 [GRCh38]
Chr5:172660355 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.103G>A (p.Ala35Thr) single nucleotide variant NKX2-5-related condition [RCV003944383] Chr5:173234981 [GRCh38]
Chr5:172661984 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.335-298_335-297dup duplication NKX2-5-related condition [RCV003924457] Chr5:173233505..173233506 [GRCh38]
Chr5:172660508..172660509 [GRCh37]
Chr5:5q35.1		 likely benign
NM_004387.4(NKX2-5):c.550A>T (p.Ile184Phe) single nucleotide variant not provided [RCV003886921] Chr5:173232994 [GRCh38]
Chr5:172659997 [GRCh37]
Chr5:5q35.1		 likely pathogenic
NM_004387.4(NKX2-5):c.293G>C (p.Ser98Thr) single nucleotide variant Cardiovascular phenotype [RCV003360657] Chr5:173234791 [GRCh38]
Chr5:172661794 [GRCh37]
Chr5:5q35.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1511
Count of miRNA genes:673
Interacting mature miRNAs:795
Transcripts:ENST00000329198, ENST00000424406, ENST00000517440, ENST00000521848
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH80828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375172,659,339 - 172,659,540UniSTSGRCh37
Build 365172,591,945 - 172,592,146RGDNCBI36
Celera5168,692,705 - 168,692,906RGD
Cytogenetic Map5q34UniSTS
Cytogenetic Map5q35.1UniSTS
HuRef5167,754,637 - 167,754,838UniSTS
GeneMap99-GB4 RH Map5643.21UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 19 876 7 4 252 2 24 426 36 8 40 55 4 1 1
Low 39 81 97 39 48 11 90 53 173 17 154 100 33 281 36
Below cutoff 1398 1314 1001 238 702 150 2991 1138 2478 104 861 945 91 641 1971 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB021133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI609745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA559427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF122379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT984164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT984165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT984166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT984167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF193151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF358410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM066666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U34962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000329198   ⟹   ENSP00000327758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5173,232,109 - 173,235,206 (-)Ensembl
RefSeq Acc Id: ENST00000424406   ⟹   ENSP00000395378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5173,232,893 - 173,235,264 (-)Ensembl
RefSeq Acc Id: ENST00000517440   ⟹   ENSP00000429905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5173,234,048 - 173,235,311 (-)Ensembl
RefSeq Acc Id: ENST00000521848   ⟹   ENSP00000427906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5173,232,895 - 173,235,206 (-)Ensembl
RefSeq Acc Id: NM_001166175   ⟹   NP_001159647
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385173,232,109 - 173,235,206 (-)NCBI
GRCh375172,659,107 - 172,662,315 (-)ENTREZGENE
HuRef5167,754,405 - 167,757,613 (-)ENTREZGENE
CHM1_15172,091,589 - 172,094,797 (-)NCBI
T2T-CHM13v2.05173,772,181 - 173,775,278 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001166176   ⟹   NP_001159648
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385173,232,109 - 173,235,206 (-)NCBI
GRCh375172,659,107 - 172,662,315 (-)ENTREZGENE
HuRef5167,754,405 - 167,757,613 (-)ENTREZGENE
CHM1_15172,091,589 - 172,094,797 (-)NCBI
T2T-CHM13v2.05173,772,181 - 173,775,278 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004387   ⟹   NP_004378
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385173,232,109 - 173,235,206 (-)NCBI
GRCh375172,659,107 - 172,662,315 (-)NCBI
Build 365172,591,744 - 172,594,868 (-)NCBI Archive
HuRef5167,754,405 - 167,757,613 (-)ENTREZGENE
CHM1_15172,091,589 - 172,094,797 (-)NCBI
T2T-CHM13v2.05173,772,181 - 173,775,278 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009071   ⟹   XP_016864560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385173,233,509 - 173,235,206 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054351717   ⟹   XP_054207692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05173,773,581 - 173,775,278 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001159647 (Get FASTA)   NCBI Sequence Viewer  
  NP_001159648 (Get FASTA)   NCBI Sequence Viewer  
  NP_004378 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864560 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207692 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC50470 (Get FASTA)   NCBI Sequence Viewer  
  AAH25711 (Get FASTA)   NCBI Sequence Viewer  
  ABL63553 (Get FASTA)   NCBI Sequence Viewer  
  ABL63554 (Get FASTA)   NCBI Sequence Viewer  
  ABL63555 (Get FASTA)   NCBI Sequence Viewer  
  ABL63556 (Get FASTA)   NCBI Sequence Viewer  
  ABL63557 (Get FASTA)   NCBI Sequence Viewer  
  ABL63558 (Get FASTA)   NCBI Sequence Viewer  
  ABL63559 (Get FASTA)   NCBI Sequence Viewer  
  ABL63560 (Get FASTA)   NCBI Sequence Viewer  
  ABL63561 (Get FASTA)   NCBI Sequence Viewer  
  ABL63562 (Get FASTA)   NCBI Sequence Viewer  
  ABL63563 (Get FASTA)   NCBI Sequence Viewer  
  ABL63564 (Get FASTA)   NCBI Sequence Viewer  
  ABL63565 (Get FASTA)   NCBI Sequence Viewer  
  ABL63566 (Get FASTA)   NCBI Sequence Viewer  
  ABL63567 (Get FASTA)   NCBI Sequence Viewer  
  ABL63568 (Get FASTA)   NCBI Sequence Viewer  
  ABL63569 (Get FASTA)   NCBI Sequence Viewer  
  ABL63570 (Get FASTA)   NCBI Sequence Viewer  
  ABL63571 (Get FASTA)   NCBI Sequence Viewer  
  ABL63572 (Get FASTA)   NCBI Sequence Viewer  
  ABL63573 (Get FASTA)   NCBI Sequence Viewer  
  ABL63574 (Get FASTA)   NCBI Sequence Viewer  
  ABL63575 (Get FASTA)   NCBI Sequence Viewer  
  ABL63576 (Get FASTA)   NCBI Sequence Viewer  
  ABL63577 (Get FASTA)   NCBI Sequence Viewer  
  ABL63578 (Get FASTA)   NCBI Sequence Viewer  
  ABL63579 (Get FASTA)   NCBI Sequence Viewer  
  ABL63580 (Get FASTA)   NCBI Sequence Viewer  
  ABL63581 (Get FASTA)   NCBI Sequence Viewer  
  ABL63582 (Get FASTA)   NCBI Sequence Viewer  
  ABL63583 (Get FASTA)   NCBI Sequence Viewer  
  ABL63584 (Get FASTA)   NCBI Sequence Viewer  
  ABL63585 (Get FASTA)   NCBI Sequence Viewer  
  ABL63586 (Get FASTA)   NCBI Sequence Viewer  
  ABL63587 (Get FASTA)   NCBI Sequence Viewer  
  ABL63588 (Get FASTA)   NCBI Sequence Viewer  
  ABL63589 (Get FASTA)   NCBI Sequence Viewer  
  ABL63590 (Get FASTA)   NCBI Sequence Viewer  
  ABL63591 (Get FASTA)   NCBI Sequence Viewer  
  ABL63592 (Get FASTA)   NCBI Sequence Viewer  
  ABL63593 (Get FASTA)   NCBI Sequence Viewer  
  ABL63594 (Get FASTA)   NCBI Sequence Viewer  
  ABL63595 (Get FASTA)   NCBI Sequence Viewer  
  ABL63596 (Get FASTA)   NCBI Sequence Viewer  
  ABL63597 (Get FASTA)   NCBI Sequence Viewer  
  ABL63598 (Get FASTA)   NCBI Sequence Viewer  
  ABL63599 (Get FASTA)   NCBI Sequence Viewer  
  ABL63600 (Get FASTA)   NCBI Sequence Viewer  
  ABL63601 (Get FASTA)   NCBI Sequence Viewer  
  ABL63602 (Get FASTA)   NCBI Sequence Viewer  
  ABL63603 (Get FASTA)   NCBI Sequence Viewer  
  ABL63604 (Get FASTA)   NCBI Sequence Viewer  
  ABL63605 (Get FASTA)   NCBI Sequence Viewer  
  ABL63606 (Get FASTA)   NCBI Sequence Viewer  
  ABL63607 (Get FASTA)   NCBI Sequence Viewer  
  ABL63608 (Get FASTA)   NCBI Sequence Viewer  
  ABL63609 (Get FASTA)   NCBI Sequence Viewer  
  ABL63610 (Get FASTA)   NCBI Sequence Viewer  
  ABL63611 (Get FASTA)   NCBI Sequence Viewer  
  ABL63612 (Get FASTA)   NCBI Sequence Viewer  
  ABL63613 (Get FASTA)   NCBI Sequence Viewer  
  ABL63614 (Get FASTA)   NCBI Sequence Viewer  
  ABL63615 (Get FASTA)   NCBI Sequence Viewer  
  ABL63616 (Get FASTA)   NCBI Sequence Viewer  
  ABL63617 (Get FASTA)   NCBI Sequence Viewer  
  ABL63618 (Get FASTA)   NCBI Sequence Viewer  
  ABL63619 (Get FASTA)   NCBI Sequence Viewer  
  ABL63620 (Get FASTA)   NCBI Sequence Viewer  
  ABL63621 (Get FASTA)   NCBI Sequence Viewer  
  ABL63622 (Get FASTA)   NCBI Sequence Viewer  
  ABL63623 (Get FASTA)   NCBI Sequence Viewer  
  ABL63624 (Get FASTA)   NCBI Sequence Viewer  
  ABL63625 (Get FASTA)   NCBI Sequence Viewer  
  ABL63626 (Get FASTA)   NCBI Sequence Viewer  
  ABL63627 (Get FASTA)   NCBI Sequence Viewer  
  ABL63628 (Get FASTA)   NCBI Sequence Viewer  
  ABL63629 (Get FASTA)   NCBI Sequence Viewer  
  ABL63630 (Get FASTA)   NCBI Sequence Viewer  
  ABL63631 (Get FASTA)   NCBI Sequence Viewer  
  ABL63632 (Get FASTA)   NCBI Sequence Viewer  
  ABL63633 (Get FASTA)   NCBI Sequence Viewer  
  ABL63634 (Get FASTA)   NCBI Sequence Viewer  
  ABL63635 (Get FASTA)   NCBI Sequence Viewer  
  ABL63636 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33459 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33460 (Get FASTA)   NCBI Sequence Viewer  
  AMY16435 (Get FASTA)   NCBI Sequence Viewer  
  AMY16436 (Get FASTA)   NCBI Sequence Viewer  
  AMY16437 (Get FASTA)   NCBI Sequence Viewer  
  AMY16438 (Get FASTA)   NCBI Sequence Viewer  
  ATY36037 (Get FASTA)   NCBI Sequence Viewer  
  ATY36038 (Get FASTA)   NCBI Sequence Viewer  
  ATY36039 (Get FASTA)   NCBI Sequence Viewer  
  ATY36040 (Get FASTA)   NCBI Sequence Viewer  
  ATY36041 (Get FASTA)   NCBI Sequence Viewer  
  ATY36042 (Get FASTA)   NCBI Sequence Viewer  
  ATY36043 (Get FASTA)   NCBI Sequence Viewer  
  ATY36044 (Get FASTA)   NCBI Sequence Viewer  
  ATY36045 (Get FASTA)   NCBI Sequence Viewer  
  ATY36046 (Get FASTA)   NCBI Sequence Viewer  
  ATY36047 (Get FASTA)   NCBI Sequence Viewer  
  ATY36048 (Get FASTA)   NCBI Sequence Viewer  
  ATY36049 (Get FASTA)   NCBI Sequence Viewer  
  ATY36050 (Get FASTA)   NCBI Sequence Viewer  
  ATY36051 (Get FASTA)   NCBI Sequence Viewer  
  ATY36052 (Get FASTA)   NCBI Sequence Viewer  
  ATY36053 (Get FASTA)   NCBI Sequence Viewer  
  ATY36054 (Get FASTA)   NCBI Sequence Viewer  
  ATY36055 (Get FASTA)   NCBI Sequence Viewer  
  ATY36056 (Get FASTA)   NCBI Sequence Viewer  
  ATY36057 (Get FASTA)   NCBI Sequence Viewer  
  ATY36058 (Get FASTA)   NCBI Sequence Viewer  
  ATY36059 (Get FASTA)   NCBI Sequence Viewer  
  ATY36060 (Get FASTA)   NCBI Sequence Viewer  
  ATY36061 (Get FASTA)   NCBI Sequence Viewer  
  ATY36062 (Get FASTA)   NCBI Sequence Viewer  
  ATY36063 (Get FASTA)   NCBI Sequence Viewer  
  ATY36064 (Get FASTA)   NCBI Sequence Viewer  
  ATY36065 (Get FASTA)   NCBI Sequence Viewer  
  ATY36066 (Get FASTA)   NCBI Sequence Viewer  
  ATY36067 (Get FASTA)   NCBI Sequence Viewer  
  ATY36068 (Get FASTA)   NCBI Sequence Viewer  
  ATY36069 (Get FASTA)   NCBI Sequence Viewer  
  ATY36070 (Get FASTA)   NCBI Sequence Viewer  
  ATY36071 (Get FASTA)   NCBI Sequence Viewer  
  ATY36072 (Get FASTA)   NCBI Sequence Viewer  
  ATY36073 (Get FASTA)   NCBI Sequence Viewer  
  ATY36074 (Get FASTA)   NCBI Sequence Viewer  
  ATY36075 (Get FASTA)   NCBI Sequence Viewer  
  ATY36076 (Get FASTA)   NCBI Sequence Viewer  
  ATY36077 (Get FASTA)   NCBI Sequence Viewer  
  ATY36078 (Get FASTA)   NCBI Sequence Viewer  
  ATY36079 (Get FASTA)   NCBI Sequence Viewer  
  ATY36080 (Get FASTA)   NCBI Sequence Viewer  
  ATY36081 (Get FASTA)   NCBI Sequence Viewer  
  ATY36082 (Get FASTA)   NCBI Sequence Viewer  
  ATY36083 (Get FASTA)   NCBI Sequence Viewer  
  ATY36084 (Get FASTA)   NCBI Sequence Viewer  
  ATY36085 (Get FASTA)   NCBI Sequence Viewer  
  ATY36086 (Get FASTA)   NCBI Sequence Viewer  
  ATY36087 (Get FASTA)   NCBI Sequence Viewer  
  ATY36088 (Get FASTA)   NCBI Sequence Viewer  
  ATY36089 (Get FASTA)   NCBI Sequence Viewer  
  ATY36090 (Get FASTA)   NCBI Sequence Viewer  
  ATY36091 (Get FASTA)   NCBI Sequence Viewer  
  ATY36092 (Get FASTA)   NCBI Sequence Viewer  
  AVW79569 (Get FASTA)   NCBI Sequence Viewer  
  AVW79570 (Get FASTA)   NCBI Sequence Viewer  
  AVW79571 (Get FASTA)   NCBI Sequence Viewer  
  AVW79572 (Get FASTA)   NCBI Sequence Viewer  
  AVW79573 (Get FASTA)   NCBI Sequence Viewer  
  AVW79574 (Get FASTA)   NCBI Sequence Viewer  
  AVW79575 (Get FASTA)   NCBI Sequence Viewer  
  AVW79576 (Get FASTA)   NCBI Sequence Viewer  
  AVW79577 (Get FASTA)   NCBI Sequence Viewer  
  AVW79578 (Get FASTA)   NCBI Sequence Viewer  
  AVW79579 (Get FASTA)   NCBI Sequence Viewer  
  AVW79580 (Get FASTA)   NCBI Sequence Viewer  
  AVW79581 (Get FASTA)   NCBI Sequence Viewer  
  AVW79582 (Get FASTA)   NCBI Sequence Viewer  
  AVW79583 (Get FASTA)   NCBI Sequence Viewer  
  AVW79584 (Get FASTA)   NCBI Sequence Viewer  
  AVW79585 (Get FASTA)   NCBI Sequence Viewer  
  AVW79586 (Get FASTA)   NCBI Sequence Viewer  
  AVW79587 (Get FASTA)   NCBI Sequence Viewer  
  AVW79588 (Get FASTA)   NCBI Sequence Viewer  
  AVW79589 (Get FASTA)   NCBI Sequence Viewer  
  AVW79590 (Get FASTA)   NCBI Sequence Viewer  
  AVW79591 (Get FASTA)   NCBI Sequence Viewer  
  AVW79592 (Get FASTA)   NCBI Sequence Viewer  
  AVW79593 (Get FASTA)   NCBI Sequence Viewer  
  AVW79594 (Get FASTA)   NCBI Sequence Viewer  
  AVW79595 (Get FASTA)   NCBI Sequence Viewer  
  AVW79596 (Get FASTA)   NCBI Sequence Viewer  
  AVW79597 (Get FASTA)   NCBI Sequence Viewer  
  AVW79598 (Get FASTA)   NCBI Sequence Viewer  
  AVW79599 (Get FASTA)   NCBI Sequence Viewer  
  AVW79600 (Get FASTA)   NCBI Sequence Viewer  
  AVW79601 (Get FASTA)   NCBI Sequence Viewer  
  AVW79602 (Get FASTA)   NCBI Sequence Viewer  
  AVW79603 (Get FASTA)   NCBI Sequence Viewer  
  AVW79604 (Get FASTA)   NCBI Sequence Viewer  
  AVW79605 (Get FASTA)   NCBI Sequence Viewer  
  AVW79606 (Get FASTA)   NCBI Sequence Viewer  
  AVW79607 (Get FASTA)   NCBI Sequence Viewer  
  AVW79608 (Get FASTA)   NCBI Sequence Viewer  
  AVW79609 (Get FASTA)   NCBI Sequence Viewer  
  AVW79610 (Get FASTA)   NCBI Sequence Viewer  
  AVW79611 (Get FASTA)   NCBI Sequence Viewer  
  AVW79612 (Get FASTA)   NCBI Sequence Viewer  
  AVW79613 (Get FASTA)   NCBI Sequence Viewer  
  AVW79614 (Get FASTA)   NCBI Sequence Viewer  
  AVW79615 (Get FASTA)   NCBI Sequence Viewer  
  AVW79616 (Get FASTA)   NCBI Sequence Viewer  
  AVW79617 (Get FASTA)   NCBI Sequence Viewer  
  AVW79618 (Get FASTA)   NCBI Sequence Viewer  
  AVW79619 (Get FASTA)   NCBI Sequence Viewer  
  AVW79620 (Get FASTA)   NCBI Sequence Viewer  
  AVW79621 (Get FASTA)   NCBI Sequence Viewer  
  AVW79622 (Get FASTA)   NCBI Sequence Viewer  
  AVW79623 (Get FASTA)   NCBI Sequence Viewer  
  AVW79624 (Get FASTA)   NCBI Sequence Viewer  
  AVW79625 (Get FASTA)   NCBI Sequence Viewer  
  AVW79626 (Get FASTA)   NCBI Sequence Viewer  
  AVW79627 (Get FASTA)   NCBI Sequence Viewer  
  AVW79628 (Get FASTA)   NCBI Sequence Viewer  
  AVW79629 (Get FASTA)   NCBI Sequence Viewer  
  AVW79630 (Get FASTA)   NCBI Sequence Viewer  
  AVW79631 (Get FASTA)   NCBI Sequence Viewer  
  AVW79632 (Get FASTA)   NCBI Sequence Viewer  
  AVW79633 (Get FASTA)   NCBI Sequence Viewer  
  AVW79634 (Get FASTA)   NCBI Sequence Viewer  
  AVW79635 (Get FASTA)   NCBI Sequence Viewer  
  AVW79636 (Get FASTA)   NCBI Sequence Viewer  
  AVW79637 (Get FASTA)   NCBI Sequence Viewer  
  AVW79638 (Get FASTA)   NCBI Sequence Viewer  
  AVW79639 (Get FASTA)   NCBI Sequence Viewer  
  AVW79640 (Get FASTA)   NCBI Sequence Viewer  
  AVW79641 (Get FASTA)   NCBI Sequence Viewer  
  AVW79642 (Get FASTA)   NCBI Sequence Viewer  
  AVW79643 (Get FASTA)   NCBI Sequence Viewer  
  AVW79644 (Get FASTA)   NCBI Sequence Viewer  
  AVW79645 (Get FASTA)   NCBI Sequence Viewer  
  AVW79646 (Get FASTA)   NCBI Sequence Viewer  
  AVW79647 (Get FASTA)   NCBI Sequence Viewer  
  AVW79648 (Get FASTA)   NCBI Sequence Viewer  
  AVW79649 (Get FASTA)   NCBI Sequence Viewer  
  AVW79650 (Get FASTA)   NCBI Sequence Viewer  
  AVW79651 (Get FASTA)   NCBI Sequence Viewer  
  AVW79652 (Get FASTA)   NCBI Sequence Viewer  
  AVW79653 (Get FASTA)   NCBI Sequence Viewer  
  AVW79654 (Get FASTA)   NCBI Sequence Viewer  
  AVW79655 (Get FASTA)   NCBI Sequence Viewer  
  AVW79656 (Get FASTA)   NCBI Sequence Viewer  
  AVW79657 (Get FASTA)   NCBI Sequence Viewer  
  AVW79658 (Get FASTA)   NCBI Sequence Viewer  
  AVW79659 (Get FASTA)   NCBI Sequence Viewer  
  AVW79660 (Get FASTA)   NCBI Sequence Viewer  
  AVW79661 (Get FASTA)   NCBI Sequence Viewer  
  AVW79662 (Get FASTA)   NCBI Sequence Viewer  
  AVW79663 (Get FASTA)   NCBI Sequence Viewer  
  AVW79664 (Get FASTA)   NCBI Sequence Viewer  
  AVW79665 (Get FASTA)   NCBI Sequence Viewer  
  AVW79666 (Get FASTA)   NCBI Sequence Viewer  
  AVW79667 (Get FASTA)   NCBI Sequence Viewer  
  AVW79668 (Get FASTA)   NCBI Sequence Viewer  
  AVW79669 (Get FASTA)   NCBI Sequence Viewer  
  AVW79670 (Get FASTA)   NCBI Sequence Viewer  
  AVW79671 (Get FASTA)   NCBI Sequence Viewer  
  AVW79672 (Get FASTA)   NCBI Sequence Viewer  
  AVW79673 (Get FASTA)   NCBI Sequence Viewer  
  AVW79674 (Get FASTA)   NCBI Sequence Viewer  
  AVW79675 (Get FASTA)   NCBI Sequence Viewer  
  AVW79676 (Get FASTA)   NCBI Sequence Viewer  
  AVW79677 (Get FASTA)   NCBI Sequence Viewer  
  AVW79678 (Get FASTA)   NCBI Sequence Viewer  
  AVW79679 (Get FASTA)   NCBI Sequence Viewer  
  AVW79680 (Get FASTA)   NCBI Sequence Viewer  
  AVW79681 (Get FASTA)   NCBI Sequence Viewer  
  AVW79682 (Get FASTA)   NCBI Sequence Viewer  
  BAA35181 (Get FASTA)   NCBI Sequence Viewer  
  BAF83304 (Get FASTA)   NCBI Sequence Viewer  
  BAG60178 (Get FASTA)   NCBI Sequence Viewer  
  EAW61404 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000327758
  ENSP00000327758.4
  ENSP00000395378
  ENSP00000395378.2
  ENSP00000427906
  ENSP00000427906.1
  ENSP00000429905
  ENSP00000429905.1
GenBank Protein P52952 (Get FASTA)   NCBI Sequence Viewer  
  UQK85186 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_004378   ⟸   NM_004387
- Peptide Label: isoform 1
- UniProtKB: B4DNB6 (UniProtKB/Swiss-Prot),   A8K3K0 (UniProtKB/Swiss-Prot),   E9PBU6 (UniProtKB/Swiss-Prot),   P52952 (UniProtKB/Swiss-Prot),   A0A0S2Z383 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159648   ⟸   NM_001166176
- Peptide Label: isoform 3
- UniProtKB: P52952 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001159647   ⟸   NM_001166175
- Peptide Label: isoform 2
- UniProtKB: A0A0S2Z3K2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864560   ⟸   XM_017009071
- Peptide Label: isoform X1
- UniProtKB: E5RH49 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000429905   ⟸   ENST00000517440
RefSeq Acc Id: ENSP00000395378   ⟸   ENST00000424406
RefSeq Acc Id: ENSP00000427906   ⟸   ENST00000521848
RefSeq Acc Id: ENSP00000327758   ⟸   ENST00000329198
RefSeq Acc Id: XP_054207692   ⟸   XM_054351717
- Peptide Label: isoform X1
- UniProtKB: E5RH49 (UniProtKB/TrEMBL)
Protein Domains
Homeobox

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P52952-F1-model_v2 AlphaFold P52952 1-324 view protein structure

Promoters
RGD ID:6871578
Promoter ID:EPDNEW_H8953
Type:initiation region
Name:NKX2-5_1
Description:NK2 homeobox 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8954  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385173,235,206 - 173,235,266EPDNEW
RGD ID:6871580
Promoter ID:EPDNEW_H8954
Type:initiation region
Name:NKX2-5_2
Description:NK2 homeobox 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8953  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385173,235,398 - 173,235,458EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2488 AgrOrtholog
COSMIC NKX2-5 COSMIC
Ensembl Genes ENSG00000183072 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000329198 ENTREZGENE
  ENST00000329198.5 UniProtKB/Swiss-Prot
  ENST00000424406 ENTREZGENE
  ENST00000424406.2 UniProtKB/Swiss-Prot
  ENST00000517440 ENTREZGENE
  ENST00000517440.1 UniProtKB/TrEMBL
  ENST00000521848 ENTREZGENE
  ENST00000521848.1 UniProtKB/Swiss-Prot
Gene3D-CATH Homeodomain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183072 GTEx
HGNC ID HGNC:2488 ENTREZGENE
Human Proteome Map NKX2-5 Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_metazoa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1482 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1482 ENTREZGENE
OMIM 600584 OMIM
PANTHER HOMEOBOX PROTEIN NKX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24340:SF28 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Homeodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24202 PharmGKB
PRINTS HOMEOBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HOMEOBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z383 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3K2 ENTREZGENE, UniProtKB/TrEMBL
  A1ECB1_HUMAN UniProtKB/TrEMBL
  A1ECB2_HUMAN UniProtKB/TrEMBL
  A1ECB6_HUMAN UniProtKB/TrEMBL
  A1ECB7_HUMAN UniProtKB/TrEMBL
  A1ECB8_HUMAN UniProtKB/TrEMBL
  A1ECD1_HUMAN UniProtKB/TrEMBL
  A8K3K0 ENTREZGENE
  B4DNB6 ENTREZGENE
  E5RH49 ENTREZGENE, UniProtKB/TrEMBL
  E9PBU6 ENTREZGENE
  NKX25_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K3K0 UniProtKB/Swiss-Prot
  B4DNB6 UniProtKB/Swiss-Prot
  E9PBU6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 NKX2-5  NK2 homeobox 5  NKX2-5  NK2 transcription factor related, locus 5 (Drosophila)  Symbol and/or name change 5135510 APPROVED