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 RNA polymerase II-specific DNA-binding transcription factor 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 nucleus. Part of Nkx-2.5 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 Orthologs
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,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
516 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 Cardiovascular phenotype [RCV004018701]|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 disorder [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 disorder [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 disorder [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]|NKX2-5-related disorder [RCV004730979] Chr5:173234804 [GRCh38]
Chr5:172661807 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_004387.4(NKX2-5):c.247G>A (p.Ala83Thr) single nucleotide variant Cardiovascular phenotype [RCV004023619]|not provided [RCV000520166] Chr5:173234837 [GRCh38]
Chr5:172661840 [GRCh37]
Chr5:5q35.1		 uncertain significance
NC_000005.10:g.173233142_173233144delinsAT 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 disorder [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]|NKX2-5-related disorder [RCV004754329]|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 disorder [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 Reclassified - variant of unknown significance [RCV004720247]|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]|NKX2-5-related disorder [RCV004754506] 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|likely 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]|Cardiovascular phenotype [RCV004022858] 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 disorder [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]|Cardiovascular phenotype [RCV004025264]|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]|Cardiovascular phenotype [RCV004029510] Chr5:173233187 [GRCh38]
Chr5:172660190 [GRCh37]
Chr5:5q35.1		 benign|likely 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]|Cardiovascular phenotype [RCV004033742]|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]|not provided [RCV004726968] 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]|Cardiovascular phenotype [RCV004033752] 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 disorder [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]|Cardiovascular phenotype [RCV004639456]|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]|Cardiovascular phenotype [RCV004641684]|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]|not provided [RCV004774584] 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]|Cardiovascular phenotype [RCV004042122] 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]|Cardiovascular phenotype [RCV004043914] 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 [