GATA6 (GATA binding protein 6) - Rat Genome Database

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Pathways
Gene: GATA6 (GATA binding protein 6) Homo sapiens
Analyze
Symbol: GATA6
Name: GATA binding protein 6
RGD ID: 735650
HGNC Page HGNC:4174
Description: Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; NFAT protein binding activity; and transcription coactivator binding activity. Involved in several processes, including heart development; negative regulation of sebum secreting cell proliferation; and regulation of gene expression. Acts upstream of or within with a negative effect on G1 to G0 transition involved in cell differentiation. Acts upstream of or within intestinal epithelial cell differentiation. Located in nuclear membrane and nucleoplasm. Implicated in adenocarcinoma (multiple); congenital heart disease (multiple); and pancreatic hypoplasia-diabetes-congenital heart disease syndrome. Biomarker of Barrett's esophagus and pulmonary hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ASD9; AVSD5; GATA-binding factor 6; GATA-binding protein 6; PACHD; transcription factor GATA-6
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381822,169,589 - 22,202,528 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1822,169,589 - 22,202,528 (+)EnsemblGRCh38hg38GRCh38
GRCh371819,749,550 - 19,782,491 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361818,003,414 - 18,036,225 (+)NCBINCBI36Build 36hg18NCBI36
Build 341818,003,413 - 18,036,225NCBI
Celera1816,555,843 - 16,588,650 (+)NCBICelera
Cytogenetic Map18q11.2NCBI
HuRef1816,596,234 - 16,629,323 (+)NCBIHuRef
CHM1_11819,676,426 - 19,709,511 (+)NCBICHM1_1
T2T-CHM13v2.01822,354,655 - 22,387,589 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP,ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-ethoxyethanol  (ISO)
2-methoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (EXP)
8'-apo-beta,psi-caroten-8'-al  (EXP)
9-cis-retinoic acid  (EXP)
acetic acid  (ISO)
aflatoxin B1  (EXP)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-4-oxoretinol  (EXP)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arotinoid acid  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (ISO)
beta-carotene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromochloroacetic acid  (ISO)
cadmium dichloride  (EXP)
calciol  (ISO)
cantharidin  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
CHIR 99021  (EXP)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
cortisol  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (ISO)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dichromium trioxide  (EXP)
diclofenac  (ISO)
dimethyl sulfoxide  (EXP)
dimethylarsinous acid  (EXP)
divanadium pentaoxide  (EXP)
dorsomorphin  (EXP)
flavonoids  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
gentamycin  (ISO)
indometacin  (EXP)
L-ascorbic acid  (EXP)
L-ascorbic acid 2-phosphate  (EXP)
L-methionine  (ISO)
lead diacetate  (EXP)
leflunomide  (ISO)
lipopolysaccharide  (EXP)
menadione  (EXP)
mercury dibromide  (EXP)
methidathion  (ISO)
methylmercury chloride  (EXP)
monocrotaline  (EXP)
N-ethyl-N-nitrosourea  (ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
nicotine  (EXP,ISO)
nimesulide  (ISO)
nitrofen  (ISO)
NS-398  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
progesterone  (EXP)
quercetin  (EXP)
quinolin-8-ol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
simvastatin  (ISO)
sodium arsenite  (EXP)
sulindac sulfone  (EXP)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
trimellitic anhydride  (ISO)
uranium atom  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
warfarin  (EXP)
XAV939  (EXP)
zinc atom  (EXP,ISO)
zinc sulfate  (ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure morphogenesis  (IEA)
animal organ formation  (IEA,ISO)
atrioventricular canal development  (NAS)
atrioventricular node development  (NAS)
cardiac muscle cell differentiation  (IEA,ISO)
cardiac muscle cell proliferation  (IEA,ISO)
cardiac muscle hypertrophy in response to stress  (IEA,ISO)
cardiac muscle tissue development  (IEA,ISO)
cardiac vascular smooth muscle cell differentiation  (IMP)
cell differentiation  (IEA)
cell fate commitment  (IBA)
cellular response to BMP stimulus  (IEA,ISO)
cellular response to gonadotropin stimulus  (IEA,ISO)
cellular response to hypoxia  (IDA)
club cell differentiation  (IEA,ISO)
endodermal cell differentiation  (IEA,ISO)
endodermal cell fate determination  (IEA,ISO)
epithelial cell differentiation  (IBA,IEA,ISO)
G1 to G0 transition involved in cell differentiation  (IDA)
gene expression  (IEA)
heart contraction  (IEA)
in utero embryonic development  (IEA,ISO)
intestinal epithelial cell differentiation  (IDA)
liver development  (IEA,ISO)
lung saccule development  (IEA,ISO)
male gonad development  (IEP)
negative regulation of apoptotic process  (IMP)
negative regulation of DNA-templated transcription  (IDA)
negative regulation of miRNA transcription  (IEA)
negative regulation of sebum secreting cell proliferation  (IDA)
negative regulation of transcription by RNA polymerase II  (IBA,IDA)
negative regulation of transforming growth factor beta1 production  (IMP)
negative regulation of transforming growth factor beta2 production  (IMP)
odontogenesis of dentin-containing tooth  (IEA,ISO)
outflow tract septum morphogenesis  (IMP)
pancreas development  (IEA,ISO)
pancreatic A cell differentiation  (IEA,ISO)
phospholipid metabolic process  (IEA,ISO)
positive regulation of angiogenesis  (IDA)
positive regulation of apoptotic process  (ISO)
positive regulation of BMP signaling pathway  (IEA)
positive regulation of cardiac muscle cell apoptotic process  (IEA)
positive regulation of cardiac muscle cell proliferation  (IEA,ISO)
positive regulation of cardiac muscle myoblast proliferation  (IDA)
positive regulation of DNA-templated transcription  (IEA,IMP,ISO)
positive regulation of transcription by RNA polymerase II  (IBA,IDA,IEA,ISO)
positive regulation of transforming growth factor beta activation  (IDA)
regulation of antimicrobial humoral response  (IDA)
regulation of DNA-templated transcription  (IEA)
regulation of gene expression  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IEA)
response to cAMP  (IEA,ISO)
response to estrogen  (IEA,ISO)
response to growth factor  (IDA)
response to retinoic acid  (IDA)
response to toxic substance  (IEA,ISO)
response to xenobiotic stimulus  (IEA,IMP,ISO)
sebaceous gland cell differentiation  (IDA)
sinoatrial node development  (IEA)
skin epidermis development  (IDA)
smooth muscle cell differentiation  (IMP)
stem cell differentiation  (IEA,ISO)
system development  (IEA)
tube morphogenesis  (IEA,ISO)
type B pancreatic cell differentiation  (IEA,ISO)
type II pneumocyte differentiation  (IEA,ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal heart morphology  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal mitral valve morphology  (IAGP)
Abnormal nasal morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Absent gallbladder  (IAGP)
Airway obstruction  (IAGP)
Anterior pituitary agenesis  (IAGP)
Aplasia of the left hemidiaphragm  (IAGP)
Aplasia/Hypoplasia of the diaphragm  (IAGP)
Aplasia/Hypoplasia of the gallbladder  (IAGP)
Arrhythmia  (IAGP)
Atrial fibrillation  (IAGP)
Atrial flutter  (IAGP)
Atrial septal defect  (IAGP)
Atrioventricular canal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Biliary atresia  (IAGP)
Brachydactyly  (IAGP)
Breathing dysregulation  (IAGP)
Broad forehead  (IAGP)
Broad hallux  (IAGP)
Bundle branch block  (IAGP)
Cervical ribs  (IAGP)
Chest pain  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarctation of aorta  (IAGP)
Colon perforation  (IAGP)
Complete atrioventricular canal defect  (IAGP)
Congenital defect of the pericardium  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital hypothyroidism  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Cryptorchidism  (IAGP)
Cyanosis  (IAGP)
Diabetes mellitus  (IAGP)
Dolichocephaly  (IAGP)
Double outlet left ventricle  (IAGP)
Double outlet right ventricle  (IAGP)
Dyspnea  (IAGP)
Exercise intolerance  (IAGP)
Exertional dyspnea  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Feeding difficulties  (IAGP)
First degree atrioventricular block  (IAGP)
Global developmental delay  (IAGP)
Glycosuria  (IAGP)
Hernia  (IAGP)
Hyperglycemia  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of right ventricle  (IAGP)
Hypoplastic left heart  (IAGP)
Hypoplastic tricuspid valve  (IAGP)
Hypoxemia  (IAGP)
Increased pulmonary vascular resistance  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intermittent diarrhea  (IAGP)
Interrupted aortic arch  (IAGP)
Intestinal malrotation  (IAGP)
Intrauterine growth retardation  (IAGP)
Left-to-right shunt  (IAGP)
Microcephaly  (IAGP)
Microcolon  (IAGP)
Mild microcephaly  (IAGP)
Mitral regurgitation  (IAGP)
Muscular ventricular septal defect  (IAGP)
Myocardial infarction  (IAGP)
Neonatal hypotonia  (IAGP)
Neonatal insulin-dependent diabetes mellitus  (IAGP)
Oligohydramnios  (IAGP)
Orofacial cleft  (IAGP)
Orthopnea  (IAGP)
Palpitations  (IAGP)
Pancreatic aplasia  (IAGP)
Pancreatic hypoplasia  (IAGP)
Patent ductus arteriosus  (IAGP)
Patent foramen ovale  (IAGP)
Pedal edema  (IAGP)
Perimembranous ventricular septal defect  (IAGP)
Pneumonia  (IAGP)
Postaxial polydactyly  (IAGP)
Preauricular pit  (IAGP)
Prolonged partial thromboplastin time  (IAGP)
Prominent sternum  (IAGP)
Proptosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary artery stenosis  (IAGP)
Pulmonary hypoplasia  (IAGP)
Pulmonic stenosis  (IAGP)
Recurrent bacterial infections  (IAGP)
Respiratory distress  (IAGP)
Right atrial enlargement  (IAGP)
Right ventricular dilatation  (IAGP)
Right ventricular failure  (IAGP)
Secundum atrial septal defect  (IAGP)
Seizure  (IAGP)
Single umbilical artery  (IAGP)
Small for gestational age  (IAGP)
ST segment depression  (IAGP)
Stroke  (IAGP)
Supraventricular arrhythmia  (IAGP)
Supraventricular tachycardia  (IAGP)
Syncope  (IAGP)
Systolic heart murmur  (IAGP)
Tetralogy of Fallot  (IAGP)
Thin vermilion border  (IAGP)
Thromboembolic stroke  (IAGP)
Thromboembolism  (IAGP)
Total absence of the pericardium  (IAGP)
Transient ischemic attack  (IAGP)
Transposition of the great arteries  (IAGP)
Tricuspid regurgitation  (IAGP)
Truncus arteriosus  (IAGP)
Umbilical hernia  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Ureteral duplication  (IAGP)
Ventricular septal defect  (IAGP)
Vertigo  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Comprehensive analysis of genomic alterations of Chinese hilar cholangiocarcinoma patients. Feng F, etal., Int J Clin Oncol. 2021 Apr;26(4):717-727. doi: 10.1007/s10147-020-01846-z. Epub 2021 Jan 2.
2. Endothelial GATA-6 deficiency promotes pulmonary arterial hypertension. Ghatnekar A, etal., Am J Pathol. 2013 Jun;182(6):2391-406. doi: 10.1016/j.ajpath.2013.02.039. Epub 2013 Apr 11.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Role of GATA-6 and Bone Morphogenetic Protein-2 in Dexamethasone-Induced Cleft Palate Formation in Institute of Cancer Research Mice. Lan SJ, etal., J Craniofac Surg. 2016 Sep;27(6):1600-5. doi: 10.1097/SCS.0000000000002844.
5. A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. Lin X, etal., J Hum Genet. 2010 Oct;55(10):662-7. doi: 10.1038/jhg.2010.84. Epub 2010 Jul 15.
6. Simvastatin restores down-regulated GATA-6 expression in pulmonary hypertensive rats. Liu B, etal., Exp Lung Res. 2009 Jun;35(5):411-26.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
9. GATA6 expression in Barrett's oesophagus and oesophageal adenocarcinoma. Pavlov K, etal., Dig Liver Dis. 2015 Jan;47(1):73-80. doi: 10.1016/j.dld.2014.09.014. Epub 2014 Oct 16.
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Downregulation of GATA4 and GATA6 in the heart of rats with nitrofen-induced diaphragmatic hernia. Takayasu H, etal., J Pediatr Surg. 2008 Feb;43(2):362-6. doi: 10.1016/j.jpedsurg.2007.10.047.
14. The miR-363-GATA6-Lgr5 pathway is critical for colorectal tumourigenesis. Tsuji S, etal., Nat Commun. 2014;5:3150. doi: 10.1038/ncomms4150.
15. Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot. Wang J, etal., DNA Cell Biol. 2012 Nov;31(11):1610-7. doi: 10.1089/dna.2012.1814. Epub 2012 Sep 28.
16. A novel GATA6 mutation associated with congenital ventricular septal defect. Zheng GF, etal., Int J Mol Med. 2012 Jun;29(6):1065-71. doi: 10.3892/ijmm.2012.930. Epub 2012 Mar 7.
Additional References at PubMed
PMID:8125298   PMID:8975704   PMID:9294001   PMID:9315713   PMID:9566909   PMID:9593712   PMID:10608869   PMID:10851229   PMID:11375995   PMID:11724781   PMID:11733512   PMID:11889139  
PMID:12477932   PMID:12530677   PMID:12530967   PMID:12606287   PMID:12615657   PMID:12679484   PMID:12867597   PMID:12909592   PMID:12944489   PMID:12959982   PMID:14988427   PMID:15016828  
PMID:15146197   PMID:15173203   PMID:15388788   PMID:15666845   PMID:15831526   PMID:15913546   PMID:16110260   PMID:16137232   PMID:16150495   PMID:16159937   PMID:16199874   PMID:16607277  
PMID:16968778   PMID:17070195   PMID:17390031   PMID:17403900   PMID:17626241   PMID:17785913   PMID:17848411   PMID:18078765   PMID:18177748   PMID:18227727   PMID:18405344   PMID:18454176  
PMID:18535672   PMID:18671946   PMID:18769116   PMID:19274049   PMID:19490893   PMID:19497978   PMID:19581290   PMID:19597127   PMID:19649254   PMID:19666519   PMID:19760754   PMID:19913121  
PMID:20081228   PMID:20206639   PMID:20301533   PMID:20581743   PMID:20628086   PMID:20628624   PMID:20694014   PMID:20826533   PMID:20864106   PMID:21071980   PMID:21076612   PMID:21127043  
PMID:21514437   PMID:21629665   PMID:21811562   PMID:21828274   PMID:21873635   PMID:21928112   PMID:21988832   PMID:22158542   PMID:22257684   PMID:22375031   PMID:22504665   PMID:22672670  
PMID:22750565   PMID:22806356   PMID:22824924   PMID:22962692   PMID:23158662   PMID:23175051   PMID:23223019   PMID:23275439   PMID:23313142   PMID:23635550   PMID:23707782   PMID:23746070  
PMID:23784465   PMID:24089524   PMID:24179092   PMID:24310933   PMID:24317510   PMID:24385578   PMID:24531914   PMID:24603652   PMID:24841381   PMID:24949533   PMID:24999758   PMID:25015078  
PMID:25036032   PMID:25053715   PMID:25068583   PMID:25119427   PMID:25596178   PMID:25706805   PMID:25872572   PMID:25969542   PMID:26387746   PMID:26505174   PMID:26786210   PMID:26972000  
PMID:27273097   PMID:27325420   PMID:27756709   PMID:27902469   PMID:28196600   PMID:28196690   PMID:28270130   PMID:28381408   PMID:28473536   PMID:28938416   PMID:28943339   PMID:29101065  
PMID:29106391   PMID:29321084   PMID:29339785   PMID:29402198   PMID:29469192   PMID:29517349   PMID:29567669   PMID:29615149   PMID:29653232   PMID:29844126   PMID:29889101   PMID:30194255  
PMID:30589192   PMID:30629940   PMID:30633927   PMID:30674866   PMID:30804502   PMID:30834518   PMID:30873717   PMID:30886049   PMID:30962179   PMID:31091453   PMID:31106773   PMID:31190750  
PMID:31301121   PMID:31322171   PMID:31437305   PMID:31442607   PMID:31544978   PMID:32037723   PMID:32041891   PMID:32076268   PMID:32103545   PMID:32156747   PMID:32207556   PMID:32402285  
PMID:32698071   PMID:32757451   PMID:32795420   PMID:32907838   PMID:32994395   PMID:33001357   PMID:33054971   PMID:33060197   PMID:33060563   PMID:33082341   PMID:33173435   PMID:33252174  
PMID:33300112   PMID:33536335   PMID:33846140   PMID:33859766   PMID:33915173   PMID:33961781   PMID:34294813   PMID:34332615   PMID:34374415   PMID:34493817   PMID:34582317   PMID:35088910  
PMID:35140242   PMID:35182466   PMID:35469023   PMID:35508708   PMID:35944360   PMID:36001185   PMID:36129980   PMID:36265396   PMID:36856154  


Genomics

Comparative Map Data
GATA6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381822,169,589 - 22,202,528 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1822,169,589 - 22,202,528 (+)EnsemblGRCh38hg38GRCh38
GRCh371819,749,550 - 19,782,491 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361818,003,414 - 18,036,225 (+)NCBINCBI36Build 36hg18NCBI36
Build 341818,003,413 - 18,036,225NCBI
Celera1816,555,843 - 16,588,650 (+)NCBICelera
Cytogenetic Map18q11.2NCBI
HuRef1816,596,234 - 16,629,323 (+)NCBIHuRef
CHM1_11819,676,426 - 19,709,511 (+)NCBICHM1_1
T2T-CHM13v2.01822,354,655 - 22,387,589 (+)NCBIT2T-CHM13v2.0
Gata6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391811,052,510 - 11,085,636 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1811,052,064 - 11,085,635 (+)EnsemblGRCm39 Ensembl
GRCm381811,052,510 - 11,085,636 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1811,052,064 - 11,085,635 (+)EnsemblGRCm38mm10GRCm38
MGSCv371811,052,508 - 11,085,633 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361811,052,506 - 11,085,628 (+)NCBIMGSCv36mm8
Celera1811,079,782 - 11,114,690 (+)NCBICelera
Cytogenetic Map18A1NCBI
cM Map185.63NCBI
Gata6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2182,188,121 - 2,219,532 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl182,188,121 - 2,219,532 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx182,424,615 - 2,456,020 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0183,212,329 - 3,243,727 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0182,426,505 - 2,457,910 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0182,415,821 - 2,447,087 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl182,416,552 - 2,446,338 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0182,436,500 - 2,465,966 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4182,504,264 - 2,534,648 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1182,504,263 - 2,534,648 (+)NCBI
Celera182,065,111 - 2,096,513 (+)NCBICelera
RH 3.4 Map1810.8RGD
Cytogenetic Map18p13NCBI
GATA6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan11825,283,859 - 25,316,274 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01815,411,764 - 15,444,402 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11819,046,132 - 19,078,398 (+)NCBIpanpan1.1PanPan1.1panPan2
GATA6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1765,932,114 - 65,962,574 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha765,386,151 - 65,418,363 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0765,995,800 - 66,028,019 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl765,995,807 - 66,026,277 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1765,662,867 - 65,695,075 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0765,685,301 - 65,716,538 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0765,985,181 - 66,017,395 (-)NCBIUU_Cfam_GSD_1.0
Gata6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494461,971,676 - 62,001,620 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365501,814,336 - 1,844,399 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365501,814,336 - 1,844,399 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GATA6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6107,282,849 - 107,314,626 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16107,282,709 - 107,314,725 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2699,758,773 - 99,790,688 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GATA6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11858,312,328 - 58,345,472 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1858,311,482 - 58,343,746 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605033,085,880 - 33,119,030 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gata6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247709,772,818 - 9,798,259 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247709,772,818 - 9,799,837 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GATA6
408 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005257.6(GATA6):c.307G>C (p.Gly103Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV000552396] Chr18:22171451 [GRCh38]
Chr18:19751412 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1457_1458del (p.Glu486fs) microsatellite Atrioventricular septal defect 5 [RCV001852013]|Persistent truncus arteriosus [RCV000023127] Chr18:22182783..22182784 [GRCh38]
Chr18:19762744..19762745 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.1396A>C (p.Asn466His) single nucleotide variant Persistent truncus arteriosus [RCV000023128] Chr18:22181546 [GRCh38]
Chr18:19761507 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.592C>G (p.Leu198Val) single nucleotide variant Atrioventricular septal defect 5 [RCV000650081]|Monogenic diabetes [RCV001174441]|Tetralogy of Fallot [RCV000023129]|not provided [RCV001588823] Chr18:22171736 [GRCh38]
Chr18:19751697 [GRCh37]
Chr18:18q11.2
pathogenic|likely benign|uncertain significance
NM_005257.6(GATA6):c.533C>T (p.Ala178Val) single nucleotide variant Atrioventricular septal defect 5 [RCV000023130]|Monogenic diabetes [RCV001174440]|not provided [RCV001537624] Chr18:22171677 [GRCh38]
Chr18:19751638 [GRCh37]
Chr18:18q11.2
pathogenic|benign|likely benign
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) single nucleotide variant Atrial septal defect 9 [RCV000023131]|Atrioventricular septal defect 5 [RCV000990075]|Tetralogy of Fallot [RCV000023132]|not provided [RCV001847620] Chr18:22171695 [GRCh38]
Chr18:19751656 [GRCh37]
Chr18:18q11.2
pathogenic|likely pathogenic|benign|likely benign
NM_005257.6(GATA6):c.1354A>G (p.Thr452Ala) single nucleotide variant Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [RCV000023133] Chr18:22181504 [GRCh38]
Chr18:19761465 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.1448_1455del (p.Met483fs) deletion Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [RCV000023134] Chr18:22182775..22182782 [GRCh38]
Chr18:19762736..19762743 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys) single nucleotide variant Abnormality of cardiovascular system morphology [RCV000191918]|Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [RCV000023135]|not provided [RCV003236769] Chr18:22181516 [GRCh38]
Chr18:19761477 [GRCh37]
Chr18:18q11.2
pathogenic|likely pathogenic
NM_005257.6(GATA6):c.1367G>A (p.Arg456His) single nucleotide variant Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [RCV000023136]|not provided [RCV001781300] Chr18:22181517 [GRCh38]
Chr18:19761478 [GRCh37]
Chr18:18q11.2
pathogenic|likely pathogenic
NM_005257.6(GATA6):c.1396A>G (p.Asn466Asp) single nucleotide variant Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [RCV000023137] Chr18:22181546 [GRCh38]
Chr18:19761507 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.1399G>A (p.Ala467Thr) single nucleotide variant Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [RCV000023138] Chr18:22181549 [GRCh38]
Chr18:19761510 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.1504_1505del (p.Lys502fs) deletion Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [RCV000033071] Chr18:22182831..22182832 [GRCh38]
Chr18:19762792..19762793 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.762A>G (p.Ser254=) single nucleotide variant Atrioventricular septal defect 5 [RCV000545127] Chr18:22171906 [GRCh38]
Chr18:19751867 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1515T>G (p.Ser505=) single nucleotide variant Atrioventricular septal defect 5 [RCV000546492] Chr18:22182843 [GRCh38]
Chr18:19762804 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1208G>T (p.Arg403Leu) single nucleotide variant not provided [RCV000722308] Chr18:22177027 [GRCh38]
Chr18:19756988 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1171G>A (p.Val391Met) single nucleotide variant not provided [RCV000722231] Chr18:22176990 [GRCh38]
Chr18:19756951 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.855G>T (p.Ala285=) single nucleotide variant Atrioventricular septal defect 5 [RCV000544073]|not provided [RCV001563535] Chr18:22171999 [GRCh38]
Chr18:19751960 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.766G>A (p.Ala256Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV000559792] Chr18:22171910 [GRCh38]
Chr18:19751871 [GRCh37]
Chr18:18q11.2
uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3 copy number gain See cases [RCV000052545] Chr18:20960320..28601877 [GRCh38]
Chr18:18540281..26181841 [GRCh37]
Chr18:16794279..24435839 [NCBI36]
Chr18:18q11.1-12.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-11.2(chr18:20964726-25043457)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052547]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052547]|See cases [RCV000052547] Chr18:20964726..25043457 [GRCh38]
Chr18:18544687..22623421 [GRCh37]
Chr18:16798685..20877419 [NCBI36]
Chr18:18q11.1-11.2
pathogenic
GRCh38/hg38 18q11.1-11.2(chr18:20964726-24937674)x3 copy number gain See cases [RCV000052548] Chr18:20964726..24937674 [GRCh38]
Chr18:18544687..22517638 [GRCh37]
Chr18:16798685..20771636 [NCBI36]
Chr18:18q11.1-11.2
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23
pathogenic
NM_005257.6(GATA6):c.172A>G (p.Ser58Gly) single nucleotide variant Atrioventricular septal defect 5 [RCV001366471]|Monogenic diabetes [RCV000664150] Chr18:22171316 [GRCh38]
Chr18:19751277 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.969CCA[9] (p.His333del) microsatellite Atrioventricular septal defect 5 [RCV001429510]|Persistent truncus arteriosus [RCV000117119]|not provided [RCV001596966] Chr18:22172112..22172114 [GRCh38]
Chr18:19752073..19752075 [GRCh37]
Chr18:18q11.2
benign|likely benign
NM_005257.6(GATA6):c.1620+7A>G single nucleotide variant Atrioventricular septal defect 5 [RCV001516951]|not specified [RCV000117120] Chr18:22183050 [GRCh38]
Chr18:19763011 [GRCh37]
Chr18:18q11.2
benign|likely benign
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV000468494]|Monogenic diabetes [RCV000445364]|not provided [RCV001540837]|not specified [RCV000117121] Chr18:22171187 [GRCh38]
Chr18:19751148 [GRCh37]
Chr18:18q11.2
benign|likely benign
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly) single nucleotide variant Atrioventricular septal defect 5 [RCV000462572]|Monogenic diabetes [RCV000445455]|Neonatal insulin-dependent diabetes mellitus [RCV002465524]|not provided [RCV001668238]|not specified [RCV000117122] Chr18:22171995 [GRCh38]
Chr18:19751956 [GRCh37]
Chr18:18q11.2
benign|likely benign
NM_005257.6(GATA6):c.1377C>T (p.Ala459=) single nucleotide variant Atrioventricular septal defect 5 [RCV001493871] Chr18:22181527 [GRCh38]
Chr18:19761488 [GRCh37]
Chr18:18q11.2
likely benign
NC_000018.9:g.19749151A>T single nucleotide variant Atrioventricular septal defect 5 [RCV001348661] Chr18:22169190 [GRCh38]
Chr18:19749151 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.902C>A (p.Ala301Glu) single nucleotide variant Atrioventricular septal defect 5 [RCV001302907] Chr18:22172046 [GRCh38]
Chr18:19752007 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.712G>T (p.Gly238Ter) single nucleotide variant Abnormality of cardiovascular system morphology [RCV000191916]|Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [RCV000144067] Chr18:22171856 [GRCh38]
Chr18:19751817 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.1072del (p.Val358fs) deletion Abnormality of cardiovascular system morphology [RCV000191917]|Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [RCV000144068] Chr18:22172215 [GRCh38]
Chr18:19752176 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.*41C>T single nucleotide variant not provided [RCV001545739] Chr18:22200864 [GRCh38]
Chr18:19780827 [GRCh37]
Chr18:18q11.2
likely benign
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3 copy number gain See cases [RCV000141646] Chr18:20949378..34363455 [GRCh38]
Chr18:18529339..31943419 [GRCh37]
Chr18:16783337..30197417 [NCBI36]
Chr18:18q11.1-12.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3 copy number gain See cases [RCV000142226] Chr18:20941324..40360620 [GRCh38]
Chr18:18521285..37940584 [GRCh37]
Chr18:16775283..36194582 [NCBI36]
Chr18:18q11.1-12.3
pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3
pathogenic
GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3 copy number gain See cases [RCV000143075] Chr18:8779843..24685379 [GRCh38]
Chr18:8779841..22265343 [GRCh37]
Chr18:8769841..20519341 [NCBI36]
Chr18:18p11.22-q11.2
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879) copy number gain See cases [RCV000143455] Chr18:13340112..23409879 [GRCh38]
Chr18:13340111..20989843 [GRCh37]
Chr18:13330111..19243841 [NCBI36]
Chr18:18p11.21-q11.2
pathogenic
NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV000458651]|Monogenic diabetes [RCV001174442]|not provided [RCV001569216]|not specified [RCV000192346] Chr18:22181525 [GRCh38]
Chr18:19761486 [GRCh37]
Chr18:18q11.2
likely benign|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_005257.5(GATA6):c.1071delG (p.Val358Cysfs) deletion Malformation of the heart and great vessels [RCV000191917] Chr18:22172215 [GRCh38]
Chr18:19752176 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.1087C>T (p.Gln363Ter) single nucleotide variant Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [RCV000194865] Chr18:22172231 [GRCh38]
Chr18:19752192 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.1320T>A (p.Leu440=) single nucleotide variant Atrioventricular septal defect 5 [RCV000553739] Chr18:22181470 [GRCh38]
Chr18:19761431 [GRCh37]
Chr18:18q11.2
likely benign|uncertain significance
NM_005257.6(GATA6):c.1602A>G (p.Thr534=) single nucleotide variant Atrioventricular septal defect 5 [RCV000231795]|not provided [RCV001610542]|not specified [RCV001796731] Chr18:22183025 [GRCh38]
Chr18:19762986 [GRCh37]
Chr18:18q11.2
benign
NM_005257.6(GATA6):c.1374C>T (p.Asn458=) single nucleotide variant Atrioventricular septal defect 5 [RCV000230072]|Conotruncal heart malformations [RCV002487075]|not provided [RCV001795368]|not specified [RCV000503741] Chr18:22181524 [GRCh38]
Chr18:19761485 [GRCh37]
Chr18:18q11.2
benign|likely benign
NM_005257.6(GATA6):c.1605A>G (p.Gln535=) single nucleotide variant Atrioventricular septal defect 5 [RCV000226486]|Neonatal insulin-dependent diabetes mellitus [RCV002463665]|not provided [RCV001539615]|not specified [RCV000380654] Chr18:22183028 [GRCh38]
Chr18:19762989 [GRCh37]
Chr18:18q11.2
benign|uncertain significance
NM_005257.6(GATA6):c.969CCA[8] (p.His332_His333del) microsatellite Atrioventricular septal defect 5 [RCV000233312] Chr18:22172112..22172117 [GRCh38]
Chr18:19752073..19752078 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.222G>A (p.Pro74=) single nucleotide variant Atrioventricular septal defect 5 [RCV000229334]|not provided [RCV001562606]|not specified [RCV001818619] Chr18:22171366 [GRCh38]
Chr18:19751327 [GRCh37]
Chr18:18q11.2
benign|likely benign
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23
pathogenic
NM_005257.6(GATA6):c.1729_1743dup (p.Pro577_Thr581dup) duplication not provided [RCV000722598] Chr18:22200761..22200762 [GRCh38]
Chr18:19780724..19780725 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.701del (p.Pro234fs) deletion Primary dilated cardiomyopathy [RCV003319248] Chr18:22171844 [GRCh38]
Chr18:19751805 [GRCh37]
Chr18:18q11.2
likely pathogenic
NM_005257.6(GATA6):c.925del (p.Gln309fs) deletion not provided [RCV000627578] Chr18:22172066 [GRCh38]
Chr18:19752027 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.898C>G (p.Leu300Val) single nucleotide variant not provided [RCV000523714] Chr18:22172042 [GRCh38]
Chr18:19752003 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.128CCT[2] (p.Ser45del) microsatellite Atrioventricular septal defect 5 [RCV001372248]|not provided [RCV000722391] Chr18:22171271..22171273 [GRCh38]
Chr18:19751232..19751234 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.826G>A (p.Ala276Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV000533837] Chr18:22171970 [GRCh38]
Chr18:19751931 [GRCh37]
Chr18:18q11.2
uncertain significance
GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3 copy number gain See cases [RCV000447320] Chr18:12254327..23262749 [GRCh37]
Chr18:18p11.21-q11.2
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_005257.6(GATA6):c.857G>A (p.Gly286Asp) single nucleotide variant not provided [RCV000444229] Chr18:22172001 [GRCh38]
Chr18:19751962 [GRCh37]
Chr18:18q11.2
uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_005257.6(GATA6):c.1428+5G>A single nucleotide variant not provided [RCV000430224] Chr18:22181583 [GRCh38]
Chr18:19761544 [GRCh37]
Chr18:18q11.2
likely pathogenic|uncertain significance
NM_005257.6(GATA6):c.900G>C (p.Leu300=) single nucleotide variant Atrioventricular septal defect 5 [RCV001432242] Chr18:22172044 [GRCh38]
Chr18:19752005 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.750C>T (p.Gly250=) single nucleotide variant Atrioventricular septal defect 5 [RCV000462633]|not specified [RCV001821303] Chr18:22171894 [GRCh38]
Chr18:19751855 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala) single nucleotide variant Atrioventricular septal defect 5 [RCV000470809]|Conotruncal heart malformations [RCV003224291]|Inborn genetic diseases [RCV002525630]|not provided [RCV001764455] Chr18:22200698 [GRCh38]
Chr18:19780661 [GRCh37]
Chr18:18q11.2
likely benign|uncertain significance
NM_005257.6(GATA6):c.183G>A (p.Gly61=) single nucleotide variant Atrioventricular septal defect 5 [RCV000471220] Chr18:22171327 [GRCh38]
Chr18:19751288 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1135+9C>G single nucleotide variant Atrioventricular septal defect 5 [RCV000464173]|not provided [RCV001556743] Chr18:22172288 [GRCh38]
Chr18:19752249 [GRCh37]
Chr18:18q11.2
benign|likely benign
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3 copy number gain See cases [RCV000512118] Chr18:136226..21657790 [GRCh37]
Chr18:18p11.32-q11.2
pathogenic
NM_005257.6(GATA6):c.1723G>C (p.Ala575Pro) single nucleotide variant Atrioventricular septal defect 5 [RCV001085967]|Monogenic diabetes [RCV000664151]|not provided [RCV000514657] Chr18:22200758 [GRCh38]
Chr18:19780721 [GRCh37]
Chr18:18q11.2
likely benign|uncertain significance
NM_005257.6(GATA6):c.271C>T (p.Pro91Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV000458088]|Inborn genetic diseases [RCV002526383]|not provided [RCV001550469]|not specified [RCV003155183] Chr18:22171415 [GRCh38]
Chr18:19751376 [GRCh37]
Chr18:18q11.2
likely benign|uncertain significance
NM_005257.6(GATA6):c.998_1000del (p.His333del) deletion Atrioventricular septal defect 5 [RCV000469419] Chr18:22172141..22172143 [GRCh38]
Chr18:19752102..19752104 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.237G>C (p.Leu79=) single nucleotide variant Atrioventricular septal defect 5 [RCV000476807]|not provided [RCV001557019] Chr18:22171381 [GRCh38]
Chr18:19751342 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.969CCA[11] (p.His333dup) microsatellite Atrioventricular septal defect 5 [RCV000470072]|not provided [RCV001591060]|not specified [RCV001821224] Chr18:22172111..22172112 [GRCh38]
Chr18:19752072..19752073 [GRCh37]
Chr18:18q11.2
benign|likely benign|uncertain significance
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1
pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23
pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_005257.6(GATA6):c.627C>A (p.Gly209=) single nucleotide variant Atrioventricular septal defect 5 [RCV001481290] Chr18:22171771 [GRCh38]
Chr18:19751732 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1089G>T (p.Gln363His) single nucleotide variant Atrial septal defect 9 [RCV003139852]|Atrioventricular septal defect 5 [RCV000538974] Chr18:22172233 [GRCh38]
Chr18:19752194 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1653G>C (p.Glu551Asp) single nucleotide variant Atrioventricular septal defect 5 [RCV000650069] Chr18:22200688 [GRCh38]
Chr18:19780651 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.775G>A (p.Val259Ile) single nucleotide variant Atrioventricular septal defect 5 [RCV000650070]|Inborn genetic diseases [RCV002531947] Chr18:22171919 [GRCh38]
Chr18:19751880 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.839G>C (p.Gly280Ala) single nucleotide variant Atrioventricular septal defect 5 [RCV000650071]|Conotruncal heart malformations [RCV000765403] Chr18:22171983 [GRCh38]
Chr18:19751944 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1024G>C (p.Gly342Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV000650072] Chr18:22172168 [GRCh38]
Chr18:19752129 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.995A>G (p.His332Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV000650073] Chr18:22172139 [GRCh38]
Chr18:19752100 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.233T>C (p.Leu78Pro) single nucleotide variant Atrioventricular septal defect 5 [RCV000650074]|Conotruncal heart malformations [RCV000765402] Chr18:22171377 [GRCh38]
Chr18:19751338 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.507C>A (p.Phe169Leu) single nucleotide variant Atrioventricular septal defect 5 [RCV000650075] Chr18:22171651 [GRCh38]
Chr18:19751612 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1631C>T (p.Pro544Leu) single nucleotide variant Atrioventricular septal defect 5 [RCV000650076] Chr18:22200666 [GRCh38]
Chr18:19780629 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1223A>G (p.His408Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV000650077] Chr18:22177042 [GRCh38]
Chr18:19757003 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.200C>G (p.Thr67Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV000650078] Chr18:22171344 [GRCh38]
Chr18:19751305 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1725C>T (p.Ala575=) single nucleotide variant Atrioventricular septal defect 5 [RCV000650079] Chr18:22200760 [GRCh38]
Chr18:19780723 [GRCh37]
Chr18:18q11.2
benign
NM_005257.6(GATA6):c.750C>A (p.Gly250=) single nucleotide variant Atrioventricular septal defect 5 [RCV000650080]|not provided [RCV001584498] Chr18:22171894 [GRCh38]
Chr18:19751855 [GRCh37]
Chr18:18q11.2
benign|likely benign
NM_005257.6(GATA6):c.1303-6T>C single nucleotide variant Atrioventricular septal defect 5 [RCV000650082] Chr18:22181447 [GRCh38]
Chr18:19761408 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1350A>G (p.Thr450=) single nucleotide variant Atrioventricular septal defect 5 [RCV000531747]|not provided [RCV001591264] Chr18:22181500 [GRCh38]
Chr18:19761461 [GRCh37]
Chr18:18q11.2
benign|likely benign
NM_005257.6(GATA6):c.1030C>T (p.Pro344Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV001065021]|not provided [RCV000658463] Chr18:22172174 [GRCh38]
Chr18:19752135 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1624G>A (p.Gly542Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV000693816] Chr18:22200659 [GRCh38]
Chr18:19780622 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.352C>T (p.Leu118Phe) single nucleotide variant Atrioventricular septal defect 5 [RCV000693920]|Monogenic diabetes [RCV001174439]|not provided [RCV001560570] Chr18:22171496 [GRCh38]
Chr18:19751457 [GRCh37]
Chr18:18q11.2
likely benign|uncertain significance
NM_005257.6(GATA6):c.1157A>G (p.Glu386Gly) single nucleotide variant Atrioventricular septal defect 5 [RCV000703668] Chr18:22176976 [GRCh38]
Chr18:19756937 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1754G>T (p.Arg585Leu) single nucleotide variant Atrioventricular septal defect 5 [RCV000706602] Chr18:22200789 [GRCh38]
Chr18:19780752 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1100G>C (p.Gly367Ala) single nucleotide variant Atrioventricular septal defect 5 [RCV000705151] Chr18:22172244 [GRCh38]
Chr18:19752205 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.370G>A (p.Ala124Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV000696610] Chr18:22171514 [GRCh38]
Chr18:19751475 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1054G>C (p.Gly352Arg) single nucleotide variant not provided [RCV000722614] Chr18:22172198 [GRCh38]
Chr18:19752159 [GRCh37]
Chr18:18q11.2
uncertain significance
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2
pathogenic
NM_005257.6(GATA6):c.1572T>C (p.Asp524=) single nucleotide variant Atrioventricular septal defect 5 [RCV000874386] Chr18:22182995 [GRCh38]
Chr18:19762956 [GRCh37]
Chr18:18q11.2
benign
NM_005257.6(GATA6):c.726T>C (p.Ala242=) single nucleotide variant Atrioventricular septal defect 5 [RCV001453685] Chr18:22171870 [GRCh38]
Chr18:19751831 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1429-210G>A single nucleotide variant not provided [RCV001709223] Chr18:22182547 [GRCh38]
Chr18:19762508 [GRCh37]
Chr18:18q11.2
benign
NM_005257.6(GATA6):c.1621-90= deletion not provided [RCV001725584] Chr18:22200566..22200568 [GRCh38]
Chr18:19780529..19780531 [GRCh37]
Chr18:18q11.2
benign
NM_005257.6(GATA6):c.1367G>T (p.Arg456Leu) single nucleotide variant Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [RCV003315168] Chr18:22181517 [GRCh38]
Chr18:19761478 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.1136-26G>A single nucleotide variant not provided [RCV001550865] Chr18:22176929 [GRCh38]
Chr18:19756890 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1428+307GT[2] microsatellite not provided [RCV001691366] Chr18:22181885..22181886 [GRCh38]
Chr18:19761846..19761847 [GRCh37]
Chr18:18q11.2
benign
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_005257.6(GATA6):c.156G>A (p.Arg52=) single nucleotide variant Atrioventricular septal defect 5 [RCV001454126] Chr18:22171300 [GRCh38]
Chr18:19751261 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.735G>A (p.Gly245=) single nucleotide variant Atrioventricular septal defect 5 [RCV000868484]|Conotruncal heart malformations [RCV002501278] Chr18:22171879 [GRCh38]
Chr18:19751840 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.768G>A (p.Ala256=) single nucleotide variant Atrioventricular septal defect 5 [RCV000863821] Chr18:22171912 [GRCh38]
Chr18:19751873 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1320T>C (p.Leu440=) single nucleotide variant Atrioventricular septal defect 5 [RCV000867993] Chr18:22181470 [GRCh38]
Chr18:19761431 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.43G>A (p.Gly15Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV000866086] Chr18:22171187 [GRCh38]
Chr18:19751148 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1048C>G (p.Pro350Ala) single nucleotide variant Atrioventricular septal defect 5 [RCV001056168] Chr18:22172192 [GRCh38]
Chr18:19752153 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.809C>T (p.Pro270Leu) single nucleotide variant Atrioventricular septal defect 5 [RCV001058896] Chr18:22171953 [GRCh38]
Chr18:19751914 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1672A>G (p.Ser558Gly) single nucleotide variant Atrioventricular septal defect 5 [RCV001042639] Chr18:22200707 [GRCh38]
Chr18:19780670 [GRCh37]
Chr18:18q11.2
uncertain significance
NC_000018.10:g.(?_22168362)_(22172289_?)del deletion Atrioventricular septal defect 5 [RCV001033926] Chr18:19748323..19752250 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.1297C>T (p.Arg433Cys) single nucleotide variant Atrioventricular septal defect 5 [RCV001059895] Chr18:22177116 [GRCh38]
Chr18:19757077 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.112C>A (p.Pro38Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV001059930] Chr18:22171256 [GRCh38]
Chr18:19751217 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.57G>A (p.Ala19=) single nucleotide variant Atrioventricular septal defect 5 [RCV001036297] Chr18:22171201 [GRCh38]
Chr18:19751162 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1027G>A (p.Ala343Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV000803675]|not provided [RCV003232111] Chr18:22172171 [GRCh38]
Chr18:19752132 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1785C>G (p.Ala595=) single nucleotide variant Atrioventricular septal defect 5 [RCV000807049] Chr18:22200820 [GRCh38]
Chr18:19780783 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1506G>T (p.Lys502Asn) single nucleotide variant Atrioventricular septal defect 5 [RCV000808487] Chr18:22182834 [GRCh38]
Chr18:19762795 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.424G>T (p.Glu142Ter) single nucleotide variant not provided [RCV000788770] Chr18:22171568 [GRCh38]
Chr18:19751529 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1620+6T>C single nucleotide variant Atrioventricular septal defect 5 [RCV000864093]|not provided [RCV001572156] Chr18:22183049 [GRCh38]
Chr18:19763010 [GRCh37]
Chr18:18q11.2
benign|likely benign
NM_005257.6(GATA6):c.765C>T (p.Ala255=) single nucleotide variant Atrioventricular septal defect 5 [RCV000868829] Chr18:22171909 [GRCh38]
Chr18:19751870 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1749C>T (p.Ser583=) single nucleotide variant Atrioventricular septal defect 5 [RCV002548304] Chr18:22200784 [GRCh38]
Chr18:19780747 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.300G>T (p.Ala100=) single nucleotide variant Atrioventricular septal defect 5 [RCV001427468] Chr18:22171444 [GRCh38]
Chr18:19751405 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.849G>A (p.Ala283=) single nucleotide variant Atrioventricular septal defect 5 [RCV001486989] Chr18:22171993 [GRCh38]
Chr18:19751954 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1125T>A (p.Gly375=) single nucleotide variant Atrioventricular septal defect 5 [RCV001403638] Chr18:22172269 [GRCh38]
Chr18:19752230 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.949C>A (p.Arg317=) single nucleotide variant Atrioventricular septal defect 5 [RCV001393634] Chr18:22172093 [GRCh38]
Chr18:19752054 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1653G>A (p.Glu551=) single nucleotide variant Atrioventricular septal defect 5 [RCV000862813] Chr18:22200688 [GRCh38]
Chr18:19780651 [GRCh37]
Chr18:18q11.2
benign
NM_005257.6(GATA6):c.62C>G (p.Ala21Gly) single nucleotide variant Atrioventricular septal defect 5 [RCV000862834]|not provided [RCV001551884] Chr18:22171206 [GRCh38]
Chr18:19751167 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1031C>T (p.Pro344Leu) single nucleotide variant Atrioventricular septal defect 5 [RCV000813895] Chr18:22172175 [GRCh38]
Chr18:19752136 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1373A>G (p.Asn458Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV000817760] Chr18:22181523 [GRCh38]
Chr18:19761484 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1628C>G (p.Ala543Gly) single nucleotide variant Atrioventricular septal defect 5 [RCV000818638] Chr18:22200663 [GRCh38]
Chr18:19780626 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.822C>T (p.Gly274=) single nucleotide variant Atrioventricular septal defect 5 [RCV000795092] Chr18:22171966 [GRCh38]
Chr18:19751927 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.969CCA[6] (p.His330_His333del) microsatellite Atrioventricular septal defect 5 [RCV000811485] Chr18:22172112..22172123 [GRCh38]
Chr18:19752073..19752084 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.557C>G (p.Pro186Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV000800370] Chr18:22171701 [GRCh38]
Chr18:19751662 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.155G>C (p.Arg52Pro) single nucleotide variant Atrioventricular septal defect 5 [RCV000801180] Chr18:22171299 [GRCh38]
Chr18:19751260 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1477C>T (p.Arg493Ter) single nucleotide variant Atrioventricular septal defect 5 [RCV000808853] Chr18:22182805 [GRCh38]
Chr18:19762766 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.1532C>G (p.Ser511Cys) single nucleotide variant Atypical coarctation of aorta [RCV000845200] Chr18:22182955 [GRCh38]
Chr18:19762916 [GRCh37]
Chr18:18q11.2
likely pathogenic
NM_005257.6(GATA6):c.540GGC[4] (p.Ala183dup) microsatellite Atrioventricular septal defect 5 [RCV000812420] Chr18:22171681..22171682 [GRCh38]
Chr18:19751642..19751643 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.838G>T (p.Gly280Ter) single nucleotide variant Atrioventricular septal defect 5 [RCV001068787] Chr18:22171982 [GRCh38]
Chr18:19751943 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.687G>A (p.Ser229=) single nucleotide variant not provided [RCV000975265] Chr18:22171831 [GRCh38]
Chr18:19751792 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.656C>A (p.Ala219Glu) single nucleotide variant Atrioventricular septal defect 5 [RCV001202882] Chr18:22171800 [GRCh38]
Chr18:19751761 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1025G>A (p.Gly342Glu) single nucleotide variant Atrioventricular septal defect 5 [RCV001225682] Chr18:22172169 [GRCh38]
Chr18:19752130 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.208G>A (p.Ala70Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV001210595] Chr18:22171352 [GRCh38]
Chr18:19751313 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.119C>T (p.Ser40Phe) single nucleotide variant Atrioventricular septal defect 5 [RCV001246759] Chr18:22171263 [GRCh38]
Chr18:19751224 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.712G>A (p.Gly238Arg) single nucleotide variant not provided [RCV000996653] Chr18:22171856 [GRCh38]
Chr18:19751817 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1070del (p.Pro357fs) deletion not provided [RCV001009286] Chr18:22172211 [GRCh38]
Chr18:19752172 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.545C>G (p.Ala182Gly) single nucleotide variant Atrioventricular septal defect 5 [RCV003106432] Chr18:22171689 [GRCh38]
Chr18:19751650 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.-37-259C>T single nucleotide variant not provided [RCV001546225] Chr18:22170849 [GRCh38]
Chr18:19750810 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1429-111C>T single nucleotide variant not provided [RCV001560818] Chr18:22182646 [GRCh38]
Chr18:19762607 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1136-296G>T single nucleotide variant not provided [RCV001555627] Chr18:22176659 [GRCh38]
Chr18:19756620 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1428+217C>A single nucleotide variant not provided [RCV001576796] Chr18:22181795 [GRCh38]
Chr18:19761756 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1302+149G>C single nucleotide variant not provided [RCV001562557] Chr18:22177270 [GRCh38]
Chr18:19757231 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.714A>C (p.Gly238=) single nucleotide variant Atrioventricular septal defect 5 [RCV000861423] Chr18:22171858 [GRCh38]
Chr18:19751819 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.203A>T (p.Glu68Val) single nucleotide variant Atrioventricular septal defect 5 [RCV001452376] Chr18:22171347 [GRCh38]
Chr18:19751308 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.408G>T (p.Leu136=) single nucleotide variant Atrioventricular septal defect 5 [RCV000866216] Chr18:22171552 [GRCh38]
Chr18:19751513 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1053C>T (p.Ala351=) single nucleotide variant Atrioventricular septal defect 5 [RCV001409874] Chr18:22172197 [GRCh38]
Chr18:19752158 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.459T>C (p.Ala153=) single nucleotide variant Atrioventricular septal defect 5 [RCV000908820] Chr18:22171603 [GRCh38]
Chr18:19751564 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.-37-38G>C single nucleotide variant not provided [RCV001539458] Chr18:22171070 [GRCh38]
Chr18:19751031 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1303C>A (p.Pro435Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV001239852]|Inborn genetic diseases [RCV002567939] Chr18:22181453 [GRCh38]
Chr18:19761414 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.367A>G (p.Thr123Ala) single nucleotide variant Atrioventricular septal defect 5 [RCV001070268]|Conotruncal heart malformations [RCV002497479] Chr18:22171511 [GRCh38]
Chr18:19751472 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.383T>C (p.Leu128Pro) single nucleotide variant Atrioventricular septal defect 5 [RCV001244165] Chr18:22171527 [GRCh38]
Chr18:19751488 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1620+283T>C single nucleotide variant not provided [RCV001553279] Chr18:22183326 [GRCh38]
Chr18:19763287 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.*72G>A single nucleotide variant not provided [RCV001719548] Chr18:22200895 [GRCh38]
Chr18:19780858 [GRCh37]
Chr18:18q11.2
benign
NM_005257.6(GATA6):c.*77A>G single nucleotide variant not provided [RCV001611702] Chr18:22200900 [GRCh38]
Chr18:19780863 [GRCh37]
Chr18:18q11.2
benign
NM_005257.6(GATA6):c.89G>A (p.Arg30Gln) single nucleotide variant Atrioventricular septal defect 5 [RCV001208478] Chr18:22171233 [GRCh38]
Chr18:19751194 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.834G>T (p.Glu278Asp) single nucleotide variant Atrioventricular septal defect 5 [RCV001208633] Chr18:22171978 [GRCh38]
Chr18:19751939 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.589A>C (p.Met197Leu) single nucleotide variant Atrioventricular septal defect 5 [RCV001053686] Chr18:22171733 [GRCh38]
Chr18:19751694 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.969CCA[7] (p.His331_His333del) microsatellite Atrioventricular septal defect 5 [RCV001036870]|not provided [RCV001533988] Chr18:22172112..22172120 [GRCh38]
Chr18:19752073..19752081 [GRCh37]
Chr18:18q11.2
likely benign|uncertain significance
NM_005257.6(GATA6):c.1757C>T (p.Pro586Leu) single nucleotide variant Atrioventricular septal defect 5 [RCV001220404] Chr18:22200792 [GRCh38]
Chr18:19780755 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.16G>A (p.Gly6Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV001236113]|Inborn genetic diseases [RCV002563847] Chr18:22171160 [GRCh38]
Chr18:19751121 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.199A>T (p.Thr67Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV001235484] Chr18:22171343 [GRCh38]
Chr18:19751304 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.433G>A (p.Glu145Lys) single nucleotide variant Atrioventricular septal defect 5 [RCV001055195] Chr18:22171577 [GRCh38]
Chr18:19751538 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1754G>A (p.Arg585Gln) single nucleotide variant Atrioventricular septal defect 5 [RCV001232749] Chr18:22200789 [GRCh38]
Chr18:19780752 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.706G>T (p.Gly236Cys) single nucleotide variant Atrial septal defect 9 [RCV001293862]|Atrioventricular septal defect 5 [RCV001062710]|Tetralogy of Fallot [RCV001420557] Chr18:22171850 [GRCh38]
Chr18:19751811 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.52G>C (p.Gly18Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV001063106] Chr18:22171196 [GRCh38]
Chr18:19751157 [GRCh37]
Chr18:18q11.2
uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_005257.6(GATA6):c.23G>A (p.Trp8Ter) single nucleotide variant Tetralogy of Fallot [RCV001255705] Chr18:22171167 [GRCh38]
Chr18:19751128 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.1015C>T (p.Pro339Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV001294515]|Inborn genetic diseases [RCV002543028] Chr18:22172159 [GRCh38]
Chr18:19752120 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.155G>T (p.Arg52Leu) single nucleotide variant Atrioventricular septal defect 5 [RCV001317007] Chr18:22171299 [GRCh38]
Chr18:19751260 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.660C>T (p.Gly220=) single nucleotide variant Atrioventricular septal defect 5 [RCV001295856]|Conotruncal heart malformations [RCV002493554] Chr18:22171804 [GRCh38]
Chr18:19751765 [GRCh37]
Chr18:18q11.2
likely benign|uncertain significance
NM_005257.6(GATA6):c.314A>G (p.Asn105Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV001295358]|Inborn genetic diseases [RCV002543035] Chr18:22171458 [GRCh38]
Chr18:19751419 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.94C>A (p.Pro32Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV001316447] Chr18:22171238 [GRCh38]
Chr18:19751199 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.709A>G (p.Ser237Gly) single nucleotide variant Atrioventricular septal defect 5 [RCV001294263] Chr18:22171853 [GRCh38]
Chr18:19751814 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1779C>T (p.Ala593=) single nucleotide variant Atrioventricular septal defect 5 [RCV001396603] Chr18:22200814 [GRCh38]
Chr18:19780777 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1336A>G (p.Asn446Asp) single nucleotide variant Atrioventricular septal defect 5 [RCV001374369] Chr18:22181486 [GRCh38]
Chr18:19761447 [GRCh37]
Chr18:18q11.2
uncertain significance
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2
pathogenic
NM_005257.6(GATA6):c.784C>T (p.Arg262Cys) single nucleotide variant Atrioventricular septal defect 5 [RCV001312280] Chr18:22171928 [GRCh38]
Chr18:19751889 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.481G>T (p.Ala161Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV001313433] Chr18:22171625 [GRCh38]
Chr18:19751586 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.282T>A (p.Pro94=) single nucleotide variant Atrioventricular septal defect 5 [RCV001422911] Chr18:22171426 [GRCh38]
Chr18:19751387 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.961G>C (p.Gly321Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV001296976] Chr18:22172105 [GRCh38]
Chr18:19752066 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.642C>G (p.Asn214Lys) single nucleotide variant Atrioventricular septal defect 5 [RCV001344694] Chr18:22171786 [GRCh38]
Chr18:19751747 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.862G>C (p.Gly288Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV001360271] Chr18:22172006 [GRCh38]
Chr18:19751967 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.187C>T (p.Pro63Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV001371233] Chr18:22171331 [GRCh38]
Chr18:19751292 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1246C>T (p.Leu416Phe) single nucleotide variant Atrioventricular septal defect 5 [RCV001321757] Chr18:22177065 [GRCh38]
Chr18:19757026 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.422C>G (p.Pro141Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV001323221] Chr18:22171566 [GRCh38]
Chr18:19751527 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1051G>A (p.Ala351Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV001347134] Chr18:22172195 [GRCh38]
Chr18:19752156 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.820G>T (p.Gly274Cys) single nucleotide variant Atrioventricular septal defect 5 [RCV001346171] Chr18:22171964 [GRCh38]
Chr18:19751925 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.503G>A (p.Gly168Asp) single nucleotide variant Atrioventricular septal defect 5 [RCV001324996]|not provided [RCV002286837] Chr18:22171647 [GRCh38]
Chr18:19751608 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.595C>T (p.Pro199Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV001344287] Chr18:22171739 [GRCh38]
Chr18:19751700 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.472G>A (p.Gly158Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV001322466] Chr18:22171616 [GRCh38]
Chr18:19751577 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1301T>C (p.Val434Ala) single nucleotide variant Atrioventricular septal defect 5 [RCV001344445] Chr18:22177120 [GRCh38]
Chr18:19757081 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1654A>G (p.Ser552Gly) single nucleotide variant Atrioventricular septal defect 5 [RCV001305204] Chr18:22200689 [GRCh38]
Chr18:19780652 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.180C>G (p.Cys60Trp) single nucleotide variant Atrioventricular septal defect 5 [RCV001359371] Chr18:22171324 [GRCh38]
Chr18:19751285 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.686C>T (p.Ser229Leu) single nucleotide variant Atrioventricular septal defect 5 [RCV001325797] Chr18:22171830 [GRCh38]
Chr18:19751791 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1350_1358del (p.Thr451_Thr453del) deletion Atrioventricular septal defect 5 [RCV001317395] Chr18:22181495..22181503 [GRCh38]
Chr18:19761456..19761464 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1290G>T (p.Pro430=) single nucleotide variant Atrioventricular septal defect 5 [RCV001482244] Chr18:22177109 [GRCh38]
Chr18:19757070 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.151G>A (p.Glu51Lys) single nucleotide variant Atrioventricular septal defect 5 [RCV001442098]|not specified [RCV002246385] Chr18:22171295 [GRCh38]
Chr18:19751256 [GRCh37]
Chr18:18q11.2
likely benign|uncertain significance
NM_005257.6(GATA6):c.837G>T (p.Pro279=) single nucleotide variant Atrioventricular septal defect 5 [RCV001491719] Chr18:22171981 [GRCh38]
Chr18:19751942 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1245G>T (p.Gly415=) single nucleotide variant Atrioventricular septal defect 5 [RCV001489741] Chr18:22177064 [GRCh38]
Chr18:19757025 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.555C>T (p.Ser185=) single nucleotide variant Atrioventricular septal defect 5 [RCV001408239] Chr18:22171699 [GRCh38]
Chr18:19751660 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.87G>A (p.Ala29=) single nucleotide variant Atrioventricular septal defect 5 [RCV001440355] Chr18:22171231 [GRCh38]
Chr18:19751192 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1299C>G (p.Arg433=) single nucleotide variant Atrioventricular septal defect 5 [RCV001410902] Chr18:22177118 [GRCh38]
Chr18:19757079 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.780G>T (p.Ser260=) single nucleotide variant Atrioventricular septal defect 5 [RCV001485562] Chr18:22171924 [GRCh38]
Chr18:19751885 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.777C>T (p.Val259=) single nucleotide variant Atrioventricular septal defect 5 [RCV001505881] Chr18:22171921 [GRCh38]
Chr18:19751882 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1332T>C (p.Cys444=) single nucleotide variant Atrioventricular septal defect 5 [RCV001458760] Chr18:22181482 [GRCh38]
Chr18:19761443 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.477G>C (p.Pro159=) single nucleotide variant Atrioventricular septal defect 5 [RCV001480412] Chr18:22171621 [GRCh38]
Chr18:19751582 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1009T>C (p.Tyr337His) single nucleotide variant not provided [RCV001587853] Chr18:22172153 [GRCh38]
Chr18:19752114 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1755A>C (p.Arg585=) single nucleotide variant Atrioventricular septal defect 5 [RCV001500912] Chr18:22200790 [GRCh38]
Chr18:19780753 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.765C>G (p.Ala255=) single nucleotide variant Atrioventricular septal defect 5 [RCV001480898] Chr18:22171909 [GRCh38]
Chr18:19751870 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1428+9T>A single nucleotide variant Atrioventricular septal defect 5 [RCV001501563] Chr18:22181587 [GRCh38]
Chr18:19761548 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1170C>T (p.Cys390=) single nucleotide variant Atrioventricular septal defect 5 [RCV001505482] Chr18:22176989 [GRCh38]
Chr18:19756950 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1302+20C>T single nucleotide variant Atrioventricular septal defect 5 [RCV001518850]|not provided [RCV001676011] Chr18:22177141 [GRCh38]
Chr18:19757102 [GRCh37]
Chr18:18q11.2
benign
NM_005257.6(GATA6):c.810C>T (p.Pro270=) single nucleotide variant Atrioventricular septal defect 5 [RCV001458822] Chr18:22171954 [GRCh38]
Chr18:19751915 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.543G>C (p.Ala181=) single nucleotide variant Atrioventricular septal defect 5 [RCV001468834] Chr18:22171687 [GRCh38]
Chr18:19751648 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.369C>T (p.Thr123=) single nucleotide variant Atrioventricular septal defect 5 [RCV001399847] Chr18:22171513 [GRCh38]
Chr18:19751474 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1173G>A (p.Val391=) single nucleotide variant Atrioventricular septal defect 5 [RCV001425971] Chr18:22176992 [GRCh38]
Chr18:19756953 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1578C>T (p.Cys526=) single nucleotide variant Atrioventricular septal defect 5 [RCV001427746] Chr18:22183001 [GRCh38]
Chr18:19762962 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1743G>A (p.Thr581=) single nucleotide variant Atrioventricular septal defect 5 [RCV001430519] Chr18:22200778 [GRCh38]
Chr18:19780741 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.966G>A (p.Thr322=) single nucleotide variant Atrioventricular septal defect 5 [RCV001426513] Chr18:22172110 [GRCh38]
Chr18:19752071 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.534A>G (p.Ala178=) single nucleotide variant Atrioventricular septal defect 5 [RCV001435316] Chr18:22171678 [GRCh38]
Chr18:19751639 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.319T>C (p.Ser107Pro) single nucleotide variant not provided [RCV002244426] Chr18:22171463 [GRCh38]
Chr18:19751424 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1302+12C>T single nucleotide variant Atrioventricular septal defect 5 [RCV003106979] Chr18:22177133 [GRCh38]
Chr18:19757094 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.431C>G (p.Pro144Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV003107070] Chr18:22171575 [GRCh38]
Chr18:19751536 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.155G>A (p.Arg52Gln) single nucleotide variant not provided [RCV001758580] Chr18:22171299 [GRCh38]
Chr18:19751260 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1579A>T (p.Ser527Cys) single nucleotide variant not provided [RCV001764799] Chr18:22183002 [GRCh38]
Chr18:19762963 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.941C>G (p.Ser314Trp) single nucleotide variant not provided [RCV001771135] Chr18:22172085 [GRCh38]
Chr18:19752046 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.723_755del (p.Ala242_Ala252del) deletion not provided [RCV001774542] Chr18:22171859..22171891 [GRCh38]
Chr18:19751820..19751852 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.851C>A (p.Ala284Glu) single nucleotide variant Atrioventricular septal defect 5 [RCV001868613]|not provided [RCV001771349] Chr18:22171995 [GRCh38]
Chr18:19751956 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.320C>G (p.Ser107Trp) single nucleotide variant not provided [RCV001795713] Chr18:22171464 [GRCh38]
Chr18:19751425 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.259C>T (p.Pro87Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV001868502]|Conotruncal heart malformations [RCV002503217]|not provided [RCV001758545] Chr18:22171403 [GRCh38]
Chr18:19751364 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.689C>T (p.Ala230Val) single nucleotide variant not provided [RCV001758600] Chr18:22171833 [GRCh38]
Chr18:19751794 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.629G>C (p.Ser210Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV001869627]|not provided [RCV001814675] Chr18:22171773 [GRCh38]
Chr18:19751734 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.25T>A (p.Cys9Ser) single nucleotide variant not specified [RCV001822721] Chr18:22171169 [GRCh38]
Chr18:19751130 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1142T>C (p.Leu381Pro) single nucleotide variant Atrioventricular septal defect 5 [RCV001864613] Chr18:22176961 [GRCh38]
Chr18:19756922 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.889G>A (p.Gly297Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV001896538] Chr18:22172033 [GRCh38]
Chr18:19751994 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.86C>A (p.Ala29Glu) single nucleotide variant Atrioventricular septal defect 5 [RCV001950049] Chr18:22171230 [GRCh38]
Chr18:19751191 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.193C>A (p.Leu65Ile) single nucleotide variant Atrioventricular septal defect 5 [RCV001945223] Chr18:22171337 [GRCh38]
Chr18:19751298 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.721G>C (p.Ala241Pro) single nucleotide variant Atrioventricular septal defect 5 [RCV001970865] Chr18:22171865 [GRCh38]
Chr18:19751826 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.502G>A (p.Gly168Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV001915055]|not provided [RCV003134211] Chr18:22171646 [GRCh38]
Chr18:19751607 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.863G>A (p.Gly288Glu) single nucleotide variant Atrioventricular septal defect 5 [RCV002025278] Chr18:22172007 [GRCh38]
Chr18:19751968 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.457G>T (p.Ala153Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV002043385] Chr18:22171601 [GRCh38]
Chr18:19751562 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.50C>G (p.Ala17Gly) single nucleotide variant Atrioventricular septal defect 5 [RCV001874192] Chr18:22171194 [GRCh38]
Chr18:19751155 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.743G>A (p.Gly248Glu) single nucleotide variant Atrioventricular septal defect 5 [RCV001872385] Chr18:22171887 [GRCh38]
Chr18:19751848 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.883GGC[4] (p.Gly297dup) microsatellite Atrioventricular septal defect 5 [RCV001971153] Chr18:22172024..22172025 [GRCh38]
Chr18:19751985..19751986 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.61G>T (p.Ala21Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV002025858] Chr18:22171205 [GRCh38]
Chr18:19751166 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1631C>A (p.Pro544Gln) single nucleotide variant Atrioventricular septal defect 5 [RCV001914829] Chr18:22200666 [GRCh38]
Chr18:19780629 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.158_159delinsT (p.Gly53fs) indel Developmental disorder [RCV001843796] Chr18:22171302..22171303 [GRCh38]
Chr18:19751263..19751264 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.686C>G (p.Ser229Trp) single nucleotide variant Atrioventricular septal defect 5 [RCV001909315] Chr18:22171830 [GRCh38]
Chr18:19751791 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.631G>A (p.Gly211Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV001945597] Chr18:22171775 [GRCh38]
Chr18:19751736 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1114G>A (p.Val372Met) single nucleotide variant Atrioventricular septal defect 5 [RCV001926695] Chr18:22172258 [GRCh38]
Chr18:19752219 [GRCh37]
Chr18:18q11.2
uncertain significance
GRCh37/hg19 18q11.1-12.1(chr18:18611942-26843691)x3 copy number gain not provided [RCV001827640] Chr18:18611942..26843691 [GRCh37]
Chr18:18q11.1-12.1
uncertain significance
NM_005257.6(GATA6):c.308G>A (p.Gly103Glu) single nucleotide variant Atrioventricular septal defect 5 [RCV001871371] Chr18:22171452 [GRCh38]
Chr18:19751413 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1774C>G (p.Leu592Val) single nucleotide variant Atrioventricular septal defect 5 [RCV001863361] Chr18:22200809 [GRCh38]
Chr18:19780772 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.868G>A (p.Ala290Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV001948396] Chr18:22172012 [GRCh38]
Chr18:19751973 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1139T>C (p.Leu380Pro) single nucleotide variant Atrioventricular septal defect 5 [RCV001948548] Chr18:22176958 [GRCh38]
Chr18:19756919 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1263C>A (p.Asn421Lys) single nucleotide variant Atrioventricular septal defect 5 [RCV002024521] Chr18:22177082 [GRCh38]
Chr18:19757043 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1516+15A>G single nucleotide variant Atrioventricular septal defect 5 [RCV001949349] Chr18:22182859 [GRCh38]
Chr18:19762820 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.508G>A (p.Val170Met) single nucleotide variant Atrioventricular septal defect 5 [RCV001982702]|not specified [RCV002469438] Chr18:22171652 [GRCh38]
Chr18:19751613 [GRCh37]
Chr18:18q11.2
uncertain significance
GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3 copy number gain not provided [RCV001832915] Chr18:136226..25252276 [GRCh37]
Chr18:18p11.32-q12.1
pathogenic
NM_005257.6(GATA6):c.740C>G (p.Ala247Gly) single nucleotide variant Atrioventricular septal defect 5 [RCV001968061] Chr18:22171884 [GRCh38]
Chr18:19751845 [GRCh37]
Chr18:18q11.2
uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_005257.6(GATA6):c.706G>A (p.Gly236Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV002021460] Chr18:22171850 [GRCh38]
Chr18:19751811 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.797C>G (p.Ser266Cys) single nucleotide variant Atrioventricular septal defect 5 [RCV001941177] Chr18:22171941 [GRCh38]
Chr18:19751902 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.91G>A (p.Glu31Lys) single nucleotide variant Atrioventricular septal defect 5 [RCV001944585] Chr18:22171235 [GRCh38]
Chr18:19751196 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.605C>A (p.Pro202Gln) single nucleotide variant Atrioventricular septal defect 5 [RCV001982543] Chr18:22171749 [GRCh38]
Chr18:19751710 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.842G>C (p.Gly281Ala) single nucleotide variant Atrioventricular septal defect 5 [RCV002047372] Chr18:22171986 [GRCh38]
Chr18:19751947 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1621G>A (p.Ala541Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV002038659] Chr18:22200656 [GRCh38]
Chr18:19780619 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.277G>C (p.Gly93Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV001934392] Chr18:22171421 [GRCh38]
Chr18:19751382 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.130T>G (p.Ser44Ala) single nucleotide variant Atrioventricular septal defect 5 [RCV001886885] Chr18:22171274 [GRCh38]
Chr18:19751235 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1123G>A (p.Gly375Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV002047803] Chr18:22172267 [GRCh38]
Chr18:19752228 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1513T>C (p.Ser505Pro) single nucleotide variant Atrioventricular septal defect 5 [RCV001917585] Chr18:22182841 [GRCh38]
Chr18:19762802 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.525G>A (p.Ala175=) single nucleotide variant Atrioventricular septal defect 5 [RCV001999086] Chr18:22171669 [GRCh38]
Chr18:19751630 [GRCh37]
Chr18:18q11.2
likely benign|uncertain significance
NM_005257.6(GATA6):c.364G>T (p.Ala122Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV001918962]|not provided [RCV003125978] Chr18:22171508 [GRCh38]
Chr18:19751469 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.734_754dup (p.Gly245_Gly251dup) duplication Atrioventricular septal defect 5 [RCV001955746] Chr18:22171868..22171869 [GRCh38]
Chr18:19751829..19751830 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.361G>A (p.Ala121Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV001954983] Chr18:22171505 [GRCh38]
Chr18:19751466 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1054G>A (p.Gly352Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV002029984] Chr18:22172198 [GRCh38]
Chr18:19752159 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.531_548del (p.Ala178_Ala183del) deletion Atrioventricular septal defect 5 [RCV001935994]|not provided [RCV003222365] Chr18:22171667..22171684 [GRCh38]
Chr18:19751628..19751645 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.730G>A (p.Gly244Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV001972149] Chr18:22171874 [GRCh38]
Chr18:19751835 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1418_1424del (p.Lys473fs) deletion Atrioventricular septal defect 5 [RCV001897585] Chr18:22181567..22181573 [GRCh38]
Chr18:19761528..19761534 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.829C>T (p.Arg277Trp) single nucleotide variant Atrioventricular septal defect 5 [RCV002051329] Chr18:22171973 [GRCh38]
Chr18:19751934 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1321G>T (p.Gly441Ter) single nucleotide variant Atrioventricular septal defect 5 [RCV001916279] Chr18:22181471 [GRCh38]
Chr18:19761432 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.993C>G (p.His331Gln) single nucleotide variant Atrioventricular septal defect 5 [RCV001992319] Chr18:22172137 [GRCh38]
Chr18:19752098 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.592C>A (p.Leu198Met) single nucleotide variant Atrioventricular septal defect 5 [RCV001877579] Chr18:22171736 [GRCh38]
Chr18:19751697 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.16G>C (p.Gly6Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV002049490] Chr18:22171160 [GRCh38]
Chr18:19751121 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1343A>C (p.His448Pro) single nucleotide variant Atrioventricular septal defect 5 [RCV002035004] Chr18:22181493 [GRCh38]
Chr18:19761454 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.91G>C (p.Glu31Gln) single nucleotide variant Atrioventricular septal defect 5 [RCV002013171] Chr18:22171235 [GRCh38]
Chr18:19751196 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.803G>C (p.Ser268Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV001880454] Chr18:22171947 [GRCh38]
Chr18:19751908 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1784C>T (p.Ala595Val) single nucleotide variant Atrioventricular septal defect 5 [RCV002018955] Chr18:22200819 [GRCh38]
Chr18:19780782 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.538G>A (p.Ala180Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV001953310] Chr18:22171682 [GRCh38]
Chr18:19751643 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.433G>C (p.Glu145Gln) single nucleotide variant Atrioventricular septal defect 5 [RCV002019992] Chr18:22171577 [GRCh38]
Chr18:19751538 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.32C>T (p.Pro11Leu) single nucleotide variant Atrioventricular septal defect 5 [RCV001961115] Chr18:22171176 [GRCh38]
Chr18:19751137 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.364G>A (p.Ala122Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV001954989] Chr18:22171508 [GRCh38]
Chr18:19751469 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.698C>A (p.Pro233His) single nucleotide variant Atrioventricular septal defect 5 [RCV002030212] Chr18:22171842 [GRCh38]
Chr18:19751803 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1696G>A (p.Asp566Asn) single nucleotide variant Atrioventricular septal defect 5 [RCV001922035] Chr18:22200731 [GRCh38]
Chr18:19780694 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.589A>G (p.Met197Val) single nucleotide variant Atrioventricular septal defect 5 [RCV001981614] Chr18:22171733 [GRCh38]
Chr18:19751694 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1103C>T (p.Ala368Val) single nucleotide variant Atrioventricular septal defect 5 [RCV002012709] Chr18:22172247 [GRCh38]
Chr18:19752208 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.110C>T (p.Ser37Phe) single nucleotide variant Atrioventricular septal defect 5 [RCV001905112] Chr18:22171254 [GRCh38]
Chr18:19751215 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1108C>T (p.Leu370Phe) single nucleotide variant Atrioventricular septal defect 5 [RCV001932119] Chr18:22172252 [GRCh38]
Chr18:19752213 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.481G>A (p.Ala161Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV001938058] Chr18:22171625 [GRCh38]
Chr18:19751586 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.157G>A (p.Gly53Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV001884899] Chr18:22171301 [GRCh38]
Chr18:19751262 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.460C>G (p.Leu154Val) single nucleotide variant Atrioventricular septal defect 5 [RCV001998354] Chr18:22171604 [GRCh38]
Chr18:19751565 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.765C>A (p.Ala255=) single nucleotide variant Atrioventricular septal defect 5 [RCV001999129] Chr18:22171909 [GRCh38]
Chr18:19751870 [GRCh37]
Chr18:18q11.2
likely benign|uncertain significance
NM_005257.6(GATA6):c.1021G>A (p.Val341Met) single nucleotide variant Atrioventricular septal defect 5 [RCV001955601]|Inborn genetic diseases [RCV002563430] Chr18:22172165 [GRCh38]
Chr18:19752126 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.196G>C (p.Asp66His) single nucleotide variant Atrioventricular septal defect 5 [RCV001866625] Chr18:22171340 [GRCh38]
Chr18:19751301 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.499G>C (p.Gly167Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV001921926] Chr18:22171643 [GRCh38]
Chr18:19751604 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.269C>T (p.Ala90Val) single nucleotide variant Atrioventricular septal defect 5 [RCV002017074] Chr18:22171413 [GRCh38]
Chr18:19751374 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1302+3G>A single nucleotide variant Atrioventricular septal defect 5 [RCV002047620] Chr18:22177124 [GRCh38]
Chr18:19757085 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1050C>T (p.Pro350=) single nucleotide variant Atrioventricular septal defect 5 [RCV002086179] Chr18:22172194 [GRCh38]
Chr18:19752155 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1516+17G>A single nucleotide variant Atrioventricular septal defect 5 [RCV002071831] Chr18:22182861 [GRCh38]
Chr18:19762822 [GRCh37]
Chr18:18q11.2
benign
NM_005257.6(GATA6):c.954G>C (p.Pro318=) single nucleotide variant Atrioventricular septal defect 5 [RCV002166992] Chr18:22172098 [GRCh38]
Chr18:19752059 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.999T>C (p.His333=) single nucleotide variant Atrioventricular septal defect 5 [RCV002191219] Chr18:22172143 [GRCh38]
Chr18:19752104 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1005C>T (p.Ser335=) single nucleotide variant Atrioventricular septal defect 5 [RCV002145952] Chr18:22172149 [GRCh38]
Chr18:19752110 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.729C>T (p.Gly243=) single nucleotide variant Atrioventricular septal defect 5 [RCV002130674] Chr18:22171873 [GRCh38]
Chr18:19751834 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1135+14dup duplication Atrioventricular septal defect 5 [RCV002185355] Chr18:22172291..22172292 [GRCh38]
Chr18:19752252..19752253 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.297C>T (p.Val99=) single nucleotide variant Atrioventricular septal defect 5 [RCV002192011] Chr18:22171441 [GRCh38]
Chr18:19751402 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.33G>A (p.Pro11=) single nucleotide variant Atrioventricular septal defect 5 [RCV002187388] Chr18:22171177 [GRCh38]
Chr18:19751138 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.819C>T (p.Asn273=) single nucleotide variant Atrioventricular septal defect 5 [RCV002124561] Chr18:22171963 [GRCh38]
Chr18:19751924 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1136-20_1136-16del deletion Atrioventricular septal defect 5 [RCV002110952] Chr18:22176935..22176939 [GRCh38]
Chr18:19756896..19756900 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1329C>T (p.Ser443=) single nucleotide variant Atrioventricular septal defect 5 [RCV002104669] Chr18:22181479 [GRCh38]
Chr18:19761440 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.48C>G (p.Ala16=) single nucleotide variant Atrioventricular septal defect 5 [RCV002185615] Chr18:22171192 [GRCh38]
Chr18:19751153 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1161C>T (p.Ser387=) single nucleotide variant Atrioventricular septal defect 5 [RCV002076917] Chr18:22176980 [GRCh38]
Chr18:19756941 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1516+19C>T single nucleotide variant Atrioventricular septal defect 5 [RCV002093521] Chr18:22182863 [GRCh38]
Chr18:19762824 [GRCh37]
Chr18:18q11.2
benign
NM_005257.6(GATA6):c.576C>T (p.Thr192=) single nucleotide variant Atrioventricular septal defect 5 [RCV002133975] Chr18:22171720 [GRCh38]
Chr18:19751681 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.261C>T (p.Pro87=) single nucleotide variant Atrioventricular septal defect 5 [RCV002214971] Chr18:22171405 [GRCh38]
Chr18:19751366 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.18C>A (p.Gly6=) single nucleotide variant Atrioventricular septal defect 5 [RCV002116877] Chr18:22171162 [GRCh38]
Chr18:19751123 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1212C>T (p.Asp404=) single nucleotide variant Atrioventricular septal defect 5 [RCV002108455] Chr18:22177031 [GRCh38]
Chr18:19756992 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.606G>A (p.Pro202=) single nucleotide variant Atrioventricular septal defect 5 [RCV002173467] Chr18:22171750 [GRCh38]
Chr18:19751711 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.342G>A (p.Leu114=) single nucleotide variant Atrioventricular septal defect 5 [RCV002215186] Chr18:22171486 [GRCh38]
Chr18:19751447 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.525G>T (p.Ala175=) single nucleotide variant Atrioventricular septal defect 5 [RCV002097675]|Conotruncal heart malformations [RCV002507955] Chr18:22171669 [GRCh38]
Chr18:19751630 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.789C>T (p.Phe263=) single nucleotide variant Atrioventricular septal defect 5 [RCV002080681] Chr18:22171933 [GRCh38]
Chr18:19751894 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.141C>T (p.Ser47=) single nucleotide variant Atrioventricular septal defect 5 [RCV002171710] Chr18:22171285 [GRCh38]
Chr18:19751246 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1734C>T (p.Ala578=) single nucleotide variant Atrioventricular septal defect 5 [RCV002112642] Chr18:22200769 [GRCh38]
Chr18:19780732 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.879G>A (p.Val293=) single nucleotide variant Atrioventricular septal defect 5 [RCV002210036] Chr18:22172023 [GRCh38]
Chr18:19751984 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1135+9C>T single nucleotide variant Atrioventricular septal defect 5 [RCV002108422] Chr18:22172288 [GRCh38]
Chr18:19752249 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.621G>C (p.Gly207=) single nucleotide variant Atrioventricular septal defect 5 [RCV002171990] Chr18:22171765 [GRCh38]
Chr18:19751726 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.48C>A (p.Ala16=) single nucleotide variant Atrioventricular septal defect 5 [RCV002152093] Chr18:22171192 [GRCh38]
Chr18:19751153 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1620+18A>T single nucleotide variant Atrioventricular septal defect 5 [RCV002096414] Chr18:22183061 [GRCh38]
Chr18:19763022 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1764C>T (p.Ser588=) single nucleotide variant Atrioventricular septal defect 5 [RCV002220143] Chr18:22200799 [GRCh38]
Chr18:19780762 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1152G>T (p.Leu384=) single nucleotide variant Atrioventricular septal defect 5 [RCV002121278] Chr18:22176971 [GRCh38]
Chr18:19756932 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.807G>T (p.Pro269=) single nucleotide variant Atrioventricular septal defect 5 [RCV002159701] Chr18:22171951 [GRCh38]
Chr18:19751912 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.597C>T (p.Pro199=) single nucleotide variant Atrioventricular septal defect 5 [RCV002199699] Chr18:22171741 [GRCh38]
Chr18:19751702 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.337C>T (p.Leu113=) single nucleotide variant Atrioventricular septal defect 5 [RCV002098197] Chr18:22171481 [GRCh38]
Chr18:19751442 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.924C>T (p.Pro308=) single nucleotide variant Atrioventricular septal defect 5 [RCV002135581] Chr18:22172068 [GRCh38]
Chr18:19752029 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.798T>C (p.Ser266=) single nucleotide variant Atrioventricular septal defect 5 [RCV002216854] Chr18:22171942 [GRCh38]
Chr18:19751903 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.372C>T (p.Ala124=) single nucleotide variant Atrioventricular septal defect 5 [RCV002143600] Chr18:22171516 [GRCh38]
Chr18:19751477 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.687G>C (p.Ser229=) single nucleotide variant Atrioventricular septal defect 5 [RCV002155905] Chr18:22171831 [GRCh38]
Chr18:19751792 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1329C>G (p.Ser443=) single nucleotide variant Atrioventricular septal defect 5 [RCV002142354] Chr18:22181479 [GRCh38]
Chr18:19761440 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.786C>A (p.Arg262=) single nucleotide variant Atrioventricular septal defect 5 [RCV002197881] Chr18:22171930 [GRCh38]
Chr18:19751891 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1380G>A (p.Glu460=) single nucleotide variant Atrioventricular septal defect 5 [RCV002117688] Chr18:22181530 [GRCh38]
Chr18:19761491 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.123C>T (p.Ser41=) single nucleotide variant Atrioventricular septal defect 5 [RCV002102380] Chr18:22171267 [GRCh38]
Chr18:19751228 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1516+10C>T single nucleotide variant Atrioventricular septal defect 5 [RCV002138428] Chr18:22182854 [GRCh38]
Chr18:19762815 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1209G>A (p.Arg403=) single nucleotide variant Atrioventricular septal defect 5 [RCV002163079] Chr18:22177028 [GRCh38]
Chr18:19756989 [GRCh37]
Chr18:18q11.2
likely benign
NC_000018.9:g.(?_18963480)_(21534612_?)dup duplication Niemann-Pick disease, type C1 [RCV003109309] Chr18:18963480..21534612 [GRCh37]
Chr18:18q11.1-11.2
uncertain significance
NC_000018.9:g.(?_19780599)_(19780786_?)dup duplication Atrioventricular septal defect 5 [RCV003116343] Chr18:19780599..19780786 [GRCh37]
Chr18:18q11.2
uncertain significance
NC_000018.9:g.(?_19383858)_(19780786_?)dup duplication Atrioventricular septal defect 5 [RCV003116344] Chr18:19383858..19780786 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.782C>A (p.Ala261Glu) single nucleotide variant not provided [RCV003120437] Chr18:22171926 [GRCh38]
Chr18:19751887 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.795del (p.Ser266fs) deletion Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [RCV002293280] Chr18:22171939 [GRCh38]
Chr18:19751900 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.696C>G (p.Ser232Arg) single nucleotide variant not provided [RCV003229977] Chr18:22171840 [GRCh38]
Chr18:19751801 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1242C>A (p.Cys414Ter) single nucleotide variant not provided [RCV002283300] Chr18:22177061 [GRCh38]
Chr18:19757022 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.754G>C (p.Ala252Pro) single nucleotide variant Inborn genetic diseases [RCV003256068] Chr18:22171898 [GRCh38]
Chr18:19751859 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.916C>T (p.Arg306Cys) single nucleotide variant Atrioventricular septal defect 5 [RCV002297477] Chr18:22172060 [GRCh38]
Chr18:19752021 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1342C>T (p.His448Tyr) single nucleotide variant Atrial septal defect 9 [RCV002472115] Chr18:22181492 [GRCh38]
Chr18:19761453 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1108_1121dup (p.Gly375fs) duplication Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [RCV002472250] Chr18:22172245..22172246 [GRCh38]
Chr18:19752206..19752207 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.1300G>C (p.Val434Leu) single nucleotide variant Atrioventricular septal defect 5 [RCV002471553] Chr18:22177119 [GRCh38]
Chr18:19757080 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.631G>C (p.Gly211Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV002296315] Chr18:22171775 [GRCh38]
Chr18:19751736 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.953C>A (p.Pro318Gln) single nucleotide variant not provided [RCV002305957] Chr18:22172097 [GRCh38]
Chr18:19752058 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.180C>T (p.Cys60=) single nucleotide variant Atrioventricular septal defect 5 [RCV002995664] Chr18:22171324 [GRCh38]
Chr18:19751285 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1647G>C (p.Ala549=) single nucleotide variant Atrioventricular septal defect 5 [RCV003073606] Chr18:22200682 [GRCh38]
Chr18:19780645 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.847G>A (p.Ala283Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV002636199] Chr18:22171991 [GRCh38]
Chr18:19751952 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.806C>G (p.Pro269Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV003017737] Chr18:22171950 [GRCh38]
Chr18:19751911 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1622C>T (p.Ala541Val) single nucleotide variant Atrioventricular septal defect 5 [RCV002970845] Chr18:22200657 [GRCh38]
Chr18:19780620 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1756C>G (p.Pro586Ala) single nucleotide variant Atrioventricular septal defect 5 [RCV003075064] Chr18:22200791 [GRCh38]
Chr18:19780754 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.506T>G (p.Phe169Cys) single nucleotide variant Inborn genetic diseases [RCV002860636] Chr18:22171650 [GRCh38]
Chr18:19751611 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1428+10G>A single nucleotide variant Atrioventricular septal defect 5 [RCV003012059] Chr18:22181588 [GRCh38]
Chr18:19761549 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1086G>T (p.Leu362=) single nucleotide variant Atrioventricular septal defect 5 [RCV002904218] Chr18:22172230 [GRCh38]
Chr18:19752191 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.432G>A (p.Pro144=) single nucleotide variant Atrioventricular septal defect 5 [RCV002750295] Chr18:22171576 [GRCh38]
Chr18:19751537 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.423C>G (p.Pro141=) single nucleotide variant Atrioventricular septal defect 5 [RCV002972124] Chr18:22171567 [GRCh38]
Chr18:19751528 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.196G>A (p.Asp66Asn) single nucleotide variant Atrioventricular septal defect 5 [RCV002861470] Chr18:22171340 [GRCh38]
Chr18:19751301 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.373A>G (p.Ser125Gly) single nucleotide variant Atrioventricular septal defect 5 [RCV002622902] Chr18:22171517 [GRCh38]
Chr18:19751478 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1135+16C>T single nucleotide variant Atrioventricular septal defect 5 [RCV002866513] Chr18:22172295 [GRCh38]
Chr18:19752256 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1096G>A (p.Ala366Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV002705952] Chr18:22172240 [GRCh38]
Chr18:19752201 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.769G>A (p.Ala257Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV003054637] Chr18:22171913 [GRCh38]
Chr18:19751874 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.706G>C (p.Gly236Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV003081675] Chr18:22171850 [GRCh38]
Chr18:19751811 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.627C>G (p.Gly209=) single nucleotide variant Atrioventricular septal defect 5 [RCV002639661] Chr18:22171771 [GRCh38]
Chr18:19751732 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.425A>G (p.Glu142Gly) single nucleotide variant Atrioventricular septal defect 5 [RCV002914206] Chr18:22171569 [GRCh38]
Chr18:19751530 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.98C>A (p.Ser33Tyr) single nucleotide variant Atrioventricular septal defect 5 [RCV002736757] Chr18:22171242 [GRCh38]
Chr18:19751203 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.833A>G (p.Glu278Gly) single nucleotide variant Inborn genetic diseases [RCV002844519] Chr18:22171977 [GRCh38]
Chr18:19751938 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1529A>G (p.Asn510Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV002637654] Chr18:22182952 [GRCh38]
Chr18:19762913 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.883G>A (p.Gly295Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV003019756] Chr18:22172027 [GRCh38]
Chr18:19751988 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.336G>A (p.Leu112=) single nucleotide variant Atrioventricular septal defect 5 [RCV002909992] Chr18:22171480 [GRCh38]
Chr18:19751441 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.794A>G (p.Tyr265Cys) single nucleotide variant Atrioventricular septal defect 5 [RCV003021537] Chr18:22171938 [GRCh38]
Chr18:19751899 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.866G>A (p.Gly289Asp) single nucleotide variant Atrioventricular septal defect 5 [RCV002619251] Chr18:22172010 [GRCh38]
Chr18:19751971 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.401C>A (p.Ala134Asp) single nucleotide variant Atrioventricular septal defect 5 [RCV002952392] Chr18:22171545 [GRCh38]
Chr18:19751506 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.273C>A (p.Pro91=) single nucleotide variant Atrioventricular septal defect 5 [RCV003080181] Chr18:22171417 [GRCh38]
Chr18:19751378 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1002G>A (p.Pro334=) single nucleotide variant Atrioventricular septal defect 5 [RCV002979820] Chr18:22172146 [GRCh38]
Chr18:19752107 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.913G>A (p.Gly305Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV002885763] Chr18:22172057 [GRCh38]
Chr18:19752018 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1112C>G (p.Pro371Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV003054172] Chr18:22172256 [GRCh38]
Chr18:19752217 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.667C>A (p.Pro223Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV003038445] Chr18:22171811 [GRCh38]
Chr18:19751772 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.918C>G (p.Arg306=) single nucleotide variant Atrioventricular septal defect 5 [RCV002918360] Chr18:22172062 [GRCh38]
Chr18:19752023 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.524C>T (p.Ala175Val) single nucleotide variant Atrioventricular septal defect 5 [RCV002790202] Chr18:22171668 [GRCh38]
Chr18:19751629 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.668C>T (p.Pro223Leu) single nucleotide variant Atrioventricular septal defect 5 [RCV002958895] Chr18:22171812 [GRCh38]
Chr18:19751773 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1053C>G (p.Ala351=) single nucleotide variant Atrioventricular septal defect 5 [RCV002914664] Chr18:22172197 [GRCh38]
Chr18:19752158 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1257G>A (p.Lys419=) single nucleotide variant Atrioventricular septal defect 5 [RCV003084447] Chr18:22177076 [GRCh38]
Chr18:19757037 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1665C>T (p.Pro555=) single nucleotide variant Atrioventricular septal defect 5 [RCV002593802] Chr18:22200700 [GRCh38]
Chr18:19780663 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.507C>T (p.Phe169=) single nucleotide variant Atrioventricular septal defect 5 [RCV002741843] Chr18:22171651 [GRCh38]
Chr18:19751612 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.351C>G (p.Asp117Glu) single nucleotide variant Atrioventricular septal defect 5 [RCV002575535] Chr18:22171495 [GRCh38]
Chr18:19751456 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.659G>T (p.Gly220Val) single nucleotide variant Inborn genetic diseases [RCV002804055] Chr18:22171803 [GRCh38]
Chr18:19751764 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.296T>C (p.Val99Ala) single nucleotide variant Atrioventricular septal defect 5 [RCV002957752] Chr18:22171440 [GRCh38]
Chr18:19751401 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1136-14C>T single nucleotide variant Atrioventricular septal defect 5 [RCV002663626] Chr18:22176941 [GRCh38]
Chr18:19756902 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.771G>A (p.Ala257=) single nucleotide variant Atrioventricular septal defect 5 [RCV003056875] Chr18:22171915 [GRCh38]
Chr18:19751876 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.358C>T (p.Gln120Ter) single nucleotide variant Atrioventricular septal defect 5 [RCV002890446] Chr18:22171502 [GRCh38]
Chr18:19751463 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.1621-20G>T single nucleotide variant Atrioventricular septal defect 5 [RCV003083432] Chr18:22200636 [GRCh38]
Chr18:19780599 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.67_68delinsTT (p.Asp23Phe) indel Atrioventricular septal defect 5 [RCV003085369] Chr18:22171211..22171212 [GRCh38]
Chr18:19751172..19751173 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1516+20G>A single nucleotide variant Atrioventricular septal defect 5 [RCV003011332] Chr18:22182864 [GRCh38]
Chr18:19762825 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1636A>G (p.Met546Val) single nucleotide variant Atrioventricular septal defect 5 [RCV003030548] Chr18:22200671 [GRCh38]
Chr18:19780634 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.916C>G (p.Arg306Gly) single nucleotide variant Inborn genetic diseases [RCV002812340] Chr18:22172060 [GRCh38]
Chr18:19752021 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.969CCA[5] (p.His329_His333del) microsatellite Atrioventricular septal defect 5 [RCV002647207] Chr18:22172112..22172126 [GRCh38]
Chr18:19752073..19752087 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.400G>A (p.Ala134Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV003088220] Chr18:22171544 [GRCh38]
Chr18:19751505 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.151G>T (p.Glu51Ter) single nucleotide variant Atrioventricular septal defect 5 [RCV002650876] Chr18:22171295 [GRCh38]
Chr18:19751256 [GRCh37]
Chr18:18q11.2
pathogenic
NM_005257.6(GATA6):c.1246C>A (p.Leu416Ile) single nucleotide variant Atrioventricular septal defect 5 [RCV002791698] Chr18:22177065 [GRCh38]
Chr18:19757026 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1135+6G>A single nucleotide variant Atrioventricular septal defect 5 [RCV002628989] Chr18:22172285 [GRCh38]
Chr18:19752246 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1236C>T (p.Asn412=) single nucleotide variant Atrioventricular septal defect 5 [RCV003086373] Chr18:22177055 [GRCh38]
Chr18:19757016 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.95C>T (p.Pro32Leu) single nucleotide variant Atrioventricular septal defect 5 [RCV003011407] Chr18:22171239 [GRCh38]
Chr18:19751200 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.564C>T (p.Tyr188=) single nucleotide variant Atrioventricular septal defect 5 [RCV003060968] Chr18:22171708 [GRCh38]
Chr18:19751669 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.704A>T (p.Tyr235Phe) single nucleotide variant Atrioventricular septal defect 5 [RCV002899492] Chr18:22171848 [GRCh38]
Chr18:19751809 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.734_754del (p.Gly245_Gly251del) deletion Atrioventricular septal defect 5 [RCV002579075] Chr18:22171869..22171889 [GRCh38]
Chr18:19751830..19751850 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.648G>A (p.Ala216=) single nucleotide variant Atrioventricular septal defect 5 [RCV002576793] Chr18:22171792 [GRCh38]
Chr18:19751753 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.888C>T (p.Gly296=) single nucleotide variant Atrioventricular septal defect 5 [RCV002599028] Chr18:22172032 [GRCh38]
Chr18:19751993 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.56C>A (p.Ala19Glu) single nucleotide variant Atrioventricular septal defect 5 [RCV002938728]|not provided [RCV003154076] Chr18:22171200 [GRCh38]
Chr18:19751161 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.750C>G (p.Gly250=) single nucleotide variant Atrioventricular septal defect 5 [RCV003091202] Chr18:22171894 [GRCh38]
Chr18:19751855 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.236T>C (p.Leu79Pro) single nucleotide variant Inborn genetic diseases [RCV002717843] Chr18:22171380 [GRCh38]
Chr18:19751341 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1302+14G>A single nucleotide variant Atrioventricular septal defect 5 [RCV002898571] Chr18:22177135 [GRCh38]
Chr18:19757096 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1660A>C (p.Asn554His) single nucleotide variant Atrioventricular septal defect 5 [RCV002599339] Chr18:22200695 [GRCh38]
Chr18:19780658 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.217C>A (p.Pro73Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV003046582] Chr18:22171361 [GRCh38]
Chr18:19751322 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.868G>T (p.Ala290Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV003044036] Chr18:22172012 [GRCh38]
Chr18:19751973 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1106C>G (p.Pro369Arg) single nucleotide variant Atrioventricular septal defect 5 [RCV002715658] Chr18:22172250 [GRCh38]
Chr18:19752211 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.475C>T (p.Pro159Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV003088616] Chr18:22171619 [GRCh38]
Chr18:19751580 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.771G>T (p.Ala257=) single nucleotide variant Atrioventricular septal defect 5 [RCV002671421] Chr18:22171915 [GRCh38]
Chr18:19751876 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.740C>T (p.Ala247Val) single nucleotide variant Atrioventricular septal defect 5 [RCV003069077] Chr18:22171884 [GRCh38]
Chr18:19751845 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1728G>A (p.Ser576=) single nucleotide variant Atrioventricular septal defect 5 [RCV002583490] Chr18:22200763 [GRCh38]
Chr18:19780726 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1104C>T (p.Ala368=) single nucleotide variant Atrioventricular septal defect 5 [RCV002635303] Chr18:22172248 [GRCh38]
Chr18:19752209 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.160C>T (p.Pro54Ser) single nucleotide variant Atrioventricular septal defect 5 [RCV003051195] Chr18:22171304 [GRCh38]
Chr18:19751265 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.334_335delinsCG (p.Leu112Arg) indel Atrioventricular septal defect 5 [RCV003051504] Chr18:22171478..22171479 [GRCh38]
Chr18:19751439..19751440 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.531_545del (p.Ala179_Ala183del) deletion Atrioventricular septal defect 5 [RCV003051511] Chr18:22171664..22171678 [GRCh38]
Chr18:19751625..19751639 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.148_159dup (p.Gly53_Pro54insGlyGluArgGly) duplication Atrioventricular septal defect 5 [RCV003068922] Chr18:22171285..22171286 [GRCh38]
Chr18:19751246..19751247 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.329A>G (p.Glu110Gly) single nucleotide variant Atrioventricular septal defect 5 [RCV003072906] Chr18:22171473 [GRCh38]
Chr18:19751434 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.199A>G (p.Thr67Ala) single nucleotide variant Atrioventricular septal defect 5 [RCV003067824] Chr18:22171343 [GRCh38]
Chr18:19751304 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.291T>C (p.Pro97=) single nucleotide variant Atrioventricular septal defect 5 [RCV003051392] Chr18:22171435 [GRCh38]
Chr18:19751396 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.936G>T (p.Ser312=) single nucleotide variant Atrioventricular septal defect 5 [RCV002942848] Chr18:22172080 [GRCh38]
Chr18:19752041 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.812T>C (p.Met271Thr) single nucleotide variant Atrioventricular septal defect 5 [RCV002612839] Chr18:22171956 [GRCh38]
Chr18:19751917 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1559C>T (p.Ser520Phe) single nucleotide variant Atrioventricular septal defect 5 [RCV003071397] Chr18:22182982 [GRCh38]
Chr18:19762943 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1135+12G>C single nucleotide variant Atrioventricular septal defect 5 [RCV002634785] Chr18:22172291 [GRCh38]
Chr18:19752252 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.1066A>C (p.Thr356Pro) single nucleotide variant Atrioventricular septal defect 5 [RCV003092841] Chr18:22172210 [GRCh38]
Chr18:19752171 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.465C>T (p.Ser155=) single nucleotide variant Atrioventricular septal defect 5 [RCV002611894] Chr18:22171609 [GRCh38]
Chr18:19751570 [GRCh37]
Chr18:18q11.2
likely benign
NM_005257.6(GATA6):c.239_245del (p.Leu80fs) deletion Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [RCV003155839] Chr18:22171382..22171388 [GRCh38]
Chr18:19751343..19751349 [GRCh37]
Chr18:18q11.2
likely pathogenic
NM_005257.6(GATA6):c.202G>C (p.Glu68Gln) single nucleotide variant Conotruncal heart malformations [RCV003224685] Chr18:22171346 [GRCh38]
Chr18:19751307 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.783G>A (p.Ala261=) single nucleotide variant not provided [RCV003135329] Chr18:22171927 [GRCh38]
Chr18:19751888 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.880A>C (p.Ser294Arg) single nucleotide variant Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [RCV003140296] Chr18:22172024 [GRCh38]
Chr18:19751985 [GRCh37]
Chr18:18q11.2
likely pathogenic
NM_005257.6(GATA6):c.675G>T (p.Trp225Cys) single nucleotide variant not provided [RCV003225344] Chr18:22171819 [GRCh38]
Chr18:19751780 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.655G>T (p.Ala219Ser) single nucleotide variant not provided [RCV003319714] Chr18:22171799 [GRCh38]
Chr18:19751760 [GRCh37]
Chr18:18q11.2
uncertain significance
NM_005257.6(GATA6):c.1435A>G (p.Arg479Gly) single nucleotide variant not provided [RCV003319114] Chr18:22182763 [GRCh38]
Chr18:19762724 [GRCh37]
Chr18:18q11.2
pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR181A2hsa-miR-181a-5pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)17612493
MIR181A1hsa-miR-181a-5pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)17612493

Predicted Target Of
Summary Value
Count of predictions:1650
Count of miRNA genes:816
Interacting mature miRNAs:944
Transcripts:ENST00000269216, ENST00000581694
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH79922  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371819,780,826 - 19,781,050UniSTSGRCh37
Build 361818,034,824 - 18,035,048RGDNCBI36
Celera1816,587,249 - 16,587,473RGD
Cytogenetic Map18q11.1-q11.2UniSTS
HuRef1816,627,658 - 16,627,882UniSTS
RH91359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371819,781,643 - 19,781,753UniSTSGRCh37
Build 361818,035,641 - 18,035,751RGDNCBI36
Celera1816,588,066 - 16,588,176RGD
Cytogenetic Map18q11.1-q11.2UniSTS
HuRef1816,628,475 - 16,628,585UniSTS
GeneMap99-GB4 RH Map18186.17UniSTS
GATA6_666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371819,781,074 - 19,781,951UniSTSGRCh37
Build 361818,035,072 - 18,035,949RGDNCBI36
Celera1816,587,497 - 16,588,374RGD
HuRef1816,627,906 - 16,628,783UniSTS
ha2207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375160,733,116 - 160,734,115UniSTSGRCh37
GRCh373171,040,651 - 171,041,704UniSTSGRCh37
Celera5156,764,962 - 156,765,961UniSTS
Celera3169,440,492 - 169,441,545UniSTS
HuRef1816,595,326 - 16,595,512UniSTS
HuRef1668,612,032 - 68,612,249UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 995 2141 683 131 345 135 820 521 31 70 830 974 7 558 667 3
Low 1438 125 978 466 260 326 2863 1175 920 300 604 596 141 646 1600 3 1
Below cutoff 4 615 60 26 860 4 663 478 2464 47 21 26 24 1 521

Sequence