NKX2-5 Chromosome 5

NK2 homeobox 5
128 variants 128 Health Risk

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What This Gene Does
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
NKL subclass homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
5q35.1
Ensembl
ENSG00000183072
Associated Conditions (31)
Cardiovascular phenotype
Atrial septal defect 7
Tetralogy of Fallot
Congenital heart disease
6 conditions
Hypothyroidism
congenital
nongoitrous
5
Aortic arch interruption
Hypoplastic left heart syndrome 2
Persistent truncus arteriosus
NKX2-5-related disorder
Familial isolated congenital asplenia
small Atrial septal defect
Single ventricle
Long QT syndrome
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
Reclassified - variant of unknown significance
+11 more conditions
Key Variants
RS1012750146
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Atrial septal defect 7, Cardiovascular phenotype
Health Risk
RS104893904
Conflicting classifications of pathogenicity
Tetralogy of Fallot, Congenital heart disease, Cardiovascular phenotype
Health Risk
RS1188239387
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Atrial septal defect 7, Cardiovascular phenotype
Health Risk
RS1279595214
Conflicting classifications of pathogenicity
Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
Health Risk
RS1352813413
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Atrial septal defect 7, Cardiovascular phenotype
Health Risk
RS1356254262
Conflicting classifications of pathogenicity
Atrial septal defect 7, Atrial septal defect 7
Health Risk
RS1425022333
Conflicting classifications of pathogenicity
Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
Health Risk
RS1489743522
Conflicting classifications of pathogenicity
Atrial septal defect 7, Cardiovascular phenotype, 6 conditions
Health Risk
RS151314714
Conflicting classifications of pathogenicity
Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
Health Risk
RS201249977
Conflicting classifications of pathogenicity
Atrial septal defect 7, Atrial septal defect 7
Health Risk
RS2480071578
Conflicting classifications of pathogenicity
Atrial septal defect 7, Atrial septal defect 7
Health Risk
RS28936670
Conflicting classifications of pathogenicity
Tetralogy of Fallot, Hypothyroidism, congenital
Health Risk
All Variants (128)
RSID Category Clinical Significance Conditions
RS1012750146 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Atrial septal defect 7, Cardiovascular phenotype
RS104893904 Health Risk Conflicting classifications of pathogenicity Tetralogy of Fallot, Congenital heart disease, Cardiovascular phenotype
RS1188239387 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Atrial septal defect 7, Cardiovascular phenotype
RS1279595214 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
RS1352813413 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Atrial septal defect 7, Cardiovascular phenotype
RS1356254262 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Atrial septal defect 7
RS1425022333 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
RS1489743522 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, 6 conditions
RS151314714 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
RS201249977 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Atrial septal defect 7
RS2480071578 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Atrial septal defect 7
RS28936670 Health Risk Conflicting classifications of pathogenicity Tetralogy of Fallot, Hypothyroidism, congenital
RS369025518 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, 6 conditions
RS372282873 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
RS3729754 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, NKX2-5-related disorder
RS397515399 Health Risk Conflicting classifications of pathogenicity Familial isolated congenital asplenia, Cardiovascular phenotype, Familial isolated congenital asplenia
RS530270916 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, NKX2-5-related disorder
RS549161381 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, 6 conditions, Atrial septal defect 7
RS550046293 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
RS569535312 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
RS587782931 Health Risk Conflicting classifications of pathogenicity small Atrial septal defect, Single ventricle, Cardiovascular phenotype
RS746594822 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Atrial septal defect 7, 6 conditions
RS746833511 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Primary dilated cardiomyopathy, Cardiovascular phenotype
RS749816778 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
RS750029908 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, 6 conditions
RS750249799 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
RS751564052 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, 6 conditions
RS759339072 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Atrial septal defect 7, Cardiovascular phenotype
RS761596254 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, NKX2-5-related disorder
RS762090105 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Atrial septal defect 7, Cardiovascular phenotype
RS763729448 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
RS766199339 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, 6 conditions
RS770192204 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
RS772542981 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Atrial septal defect 7
RS77612903 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
RS780348618 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
RS781260821 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, 6 conditions
RS876661380 Health Risk Conflicting classifications of pathogenicity Reclassified - variant of unknown significance, Reclassified - variant of unknown significance
RS909098202 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Atrial septal defect 7
RS936204422 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype, Atrial septal defect 7
RS966145309 Health Risk Conflicting classifications of pathogenicity Ventricular septal defect 3, Atrial septal defect 7, NKX2-5-related disorder
RS1057520670 Health Risk Likely pathogenic —
RS1581108237 Health Risk Likely pathogenic Atrial septal defect 7, Atrial septal defect 7
RS1581108437 Health Risk Likely pathogenic —
RS1761346424 Health Risk Likely pathogenic Atrial septal defect 7, Atrial septal defect 7
RS1761374435 Health Risk Likely pathogenic Hypothyroidism, congenital, nongoitrous
RS2113901873 Health Risk Likely pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2113901914 Health Risk Likely pathogenic —
RS2480071984 Health Risk Likely pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2480072905 Health Risk Likely pathogenic —
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