ClinVar Miner

Variants in gene NKX2-5

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
47 8 73 31 17 152

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Atrial septal defect 7 with or without atrioventricular conduction defects 19 3 36 13 11 81
not provided 7 3 20 2 0 31
not specified 0 0 10 18 11 31
Cardiovascular phenotype 1 0 15 7 6 29
Congenital heart disease 4 0 2 1 1 8
Abnormality of cardiovascular system morphology 3 1 0 0 0 4
Tetralogy of Fallot 3 0 1 0 0 4
Hypothyroidism, congenital, nongoitrous, 5 3 0 0 0 0 3
Ventricular septal defect 3 3 0 0 0 0 3
Atrioventricular septal defect, somatic 2 0 0 0 0 2
Heart, malformation of 0 2 0 0 0 2
Malformation of the heart and great vessels 2 0 0 0 0 2
Asplenia, isolated congenital 0 0 1 0 0 1
Atrial septal defect 0 0 0 0 1 1
Atrial septal defect 7 with or without atrioventricular conduction defects; Ventricular septal defect 3 0 0 1 0 0 1
Atrial septal defect-atrioventricular conduction defects syndrome 1 0 0 0 0 1
Atrioventricular block, idiopathic second-degree 0 0 1 0 0 1
Double outlet right ventricle 1 0 0 0 0 1
Hypoplastic left heart syndrome 2 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
Interrupted aortic arch 1 0 0 0 0 1
Primary dilated cardiomyopathy; Atrial septal defect; Ventricular fibrillation; Noncompaction cardiomyopathy 1 0 0 0 0 1
Single ventricle; small Atrial septal defect 0 0 0 1 0 1
Truncus arteriosus 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 2 36 11 11 65
GeneDx 5 1 17 15 7 45
Ambry Genetics 1 0 16 7 6 30
OMIM 21 0 3 0 0 24
Genetic Services Laboratory, University of Chicago 5 1 4 1 3 14
Integrated Genetics/Laboratory Corporation of America 1 0 2 3 3 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 2 1 2 7
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 2 1 3 7
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 2 4 0 0 7
PreventionGenetics 0 0 0 2 4 6
Cytogenetics Laboratory,Banaras Hindu University 4 0 2 0 0 6
Congenital Heart Disease Genetic Program Lab,American University of Beirut 3 0 0 1 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 2 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Center for Medical Genetics Ghent,University of Ghent 1 0 0 0 0 1
Choi Lab,Seoul National University 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 0 1 1

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