GATA2 (GATA binding protein 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: GATA2 (GATA binding protein 2) Homo sapiens
Analyze
Symbol: GATA2
Name: GATA binding protein 2
RGD ID: 734291
HGNC Page HGNC:4171
Description: Enables several functions, including C2H2 zinc finger domain binding activity; DNA-binding transcription factor activity, RNA polymerase II-specific; and transcription coregulator binding activity. Involved in several processes, including negative regulation of endothelial cell apoptotic process; positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis; and regulation of gene expression. Acts upstream of or within negative regulation of Notch signaling pathway; negative regulation of neural precursor cell proliferation; and positive regulation of angiogenesis. Located in cytoplasm and nucleoplasm. Implicated in acute myeloid leukemia; depressive disorder; immunodeficiency 21; myelodysplastic syndrome; and myeloid leukemia. Biomarker of aplastic anemia; clear cell renal cell carcinoma; hematologic cancer (multiple); immunodeficiency 21; and pre-eclampsia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DCML; endothelial transcription factor GATA-2; FLJ45948; GATA-binding protein 2; IMD21; MGC2306; MONOMAC; NFE1B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383128,479,422 - 128,493,201 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3128,479,427 - 128,493,201 (-)EnsemblGRCh38hg38GRCh38
GRCh373128,198,265 - 128,212,044 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363129,680,960 - 129,694,718 (-)NCBINCBI36Build 36hg18NCBI36
Build 343129,680,969 - 129,694,726NCBI
Celera3126,626,234 - 126,639,997 (-)NCBICelera
Cytogenetic Map3q21.3NCBI
HuRef3125,582,307 - 125,596,070 (-)NCBIHuRef
CHM1_13128,161,207 - 128,175,078 (-)NCBICHM1_1
T2T-CHM13v2.03131,220,983 - 131,234,760 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-palmitoylglycerol  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-chloro-7-iodoquinolin-8-ol  (EXP)
5-fluorouracil  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
aluminium sulfate (anhydrous)  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antimycin A  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
azoxystrobin  (EXP)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
berberine  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
butyric acid  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
Chebulinic acid  (EXP)
chloroprene  (ISO)
chlorpyrifos  (EXP)
choline  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
curcumin  (EXP)
cypermethrin  (ISO)
deguelin  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dicrotophos  (EXP)
digitonin  (EXP)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
Enterolactone  (EXP)
entinostat  (EXP)
fluoranthene  (ISO)
folic acid  (ISO)
FR900359  (EXP)
furan  (ISO)
gentamycin  (ISO)
hemin  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
Licochalcone B  (EXP)
lipopolysaccharide  (ISO)
manumycin A  (EXP)
mercury dibromide  (EXP)
mercury dichloride  (EXP)
methapyrilene  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
nicotine  (EXP)
nitrofen  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
phenol  (EXP)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pomalidomide  (EXP)
potassium chromate  (EXP)
progesterone  (ISO)
pyrimidifen  (EXP)
raloxifene  (EXP)
SB 203580  (ISO)
SB 431542  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
tamibarotene  (EXP)
tamoxifen  (EXP,ISO)
tebufenpyrad  (EXP)
Tellimagrandin I  (EXP)
tetracycline  (ISO)
tetraphene  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
troglitazone  (EXP)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure morphogenesis  (IEA)
angiogenesis  (IEA,ISO)
brown fat cell differentiation  (IEA,ISO)
cell differentiation  (IEA)
cell differentiation in hindbrain  (IEA,ISO)
cell fate commitment  (IBA)
cell fate determination  (IEA,ISO)
central nervous system neuron development  (IEA,ISO)
cochlea development  (IEA,ISO)
commitment of neuronal cell to specific neuron type in forebrain  (IEA,ISO)
definitive hemopoiesis  (IEA,ISO)
embryonic placenta development  (IEA,ISO)
eosinophil fate commitment  (IDA)
fat cell differentiation  (IMP)
GABAergic neuron differentiation  (IEA,ISO)
glandular epithelial cell differentiation  (IEA,ISO)
glandular epithelial cell maturation  (IEA,ISO)
hematopoietic progenitor cell differentiation  (IEA,ISO)
hematopoietic stem cell homeostasis  (IEA,ISO)
homeostasis of number of cells within a tissue  (IEA,ISO)
inner ear morphogenesis  (IEA,ISO)
myeloid cell differentiation  (IEA,ISO)
negative regulation of brown fat cell differentiation  (IEA,ISO)
negative regulation of endothelial cell apoptotic process  (IMP)
negative regulation of gene expression  (IMP)
negative regulation of hematopoietic progenitor cell differentiation  (IEA,ISO)
negative regulation of macrophage differentiation  (IEA,ISO)
negative regulation of myeloid cell differentiation  (IEA,ISO)
negative regulation of neural precursor cell proliferation  (IDA)
negative regulation of neuroblast proliferation  (IEA,ISO)
negative regulation of Notch signaling pathway  (IDA)
negative regulation of transcription by RNA polymerase II  (IBA,IEA,ISO)
neural precursor cell proliferation  (IEA,ISO)
neuroblast proliferation  (IEA,ISO)
neuroendocrine cell differentiation  (IEA,ISO)
neuron differentiation  (IEA,ISO)
neuron fate commitment  (IEA,ISO)
neuron maturation  (IEA,ISO)
neuron migration  (IEA,ISO)
phagocytosis  (IEA)
pituitary gland development  (IEA,ISO)
positive regulation of angiogenesis  (IBA,IDA,IEA,IMP)
positive regulation of blood vessel endothelial cell migration  (IMP)
positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis  (IMP)
positive regulation of cell migration involved in sprouting angiogenesis  (IMP)
positive regulation of cytosolic calcium ion concentration  (IEA,ISO)
positive regulation of DNA-templated transcription  (IEA)
positive regulation of erythrocyte differentiation  (IEA,ISO)
positive regulation of gene expression  (IMP)
positive regulation of mast cell degranulation  (IEA,ISO)
positive regulation of megakaryocyte differentiation  (IEA,ISO)
positive regulation of miRNA transcription  (IBA,IDA,IGI)
positive regulation of neuron differentiation  (IEA,ISO)
positive regulation of phagocytosis  (IEA,ISS)
positive regulation of phagocytosis, engulfment  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IBA,IDA,IEA,IGI,IMP,ISO)
regulation of forebrain neuron differentiation  (IEA,ISO)
regulation of primitive erythrocyte differentiation  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IEA)
response to lipid  (IEA,ISO)
semicircular canal development  (IEA,ISO)
somatic stem cell population maintenance  (IEA,ISO)
system development  (IEA)
thyroid-stimulating hormone-secreting cell differentiation  (IEA,ISO)
transcription by RNA polymerase II  (IEA,ISO)
urogenital system development  (IEA,ISO)
vascular wound healing  (IMP)
ventral spinal cord interneuron differentiation  (IEA,ISO)

Cellular Component
cytoplasm  (IDA)
nucleoplasm  (IDA,IEA,TAS)
nucleus  (IBA,IDA,IEA)
transcription regulator complex  (IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal circulating lactate dehydrogenase concentration  (IAGP)
Abnormal neutrophil count  (IAGP)
Abnormal optic nerve morphology  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Acute leukemia  (IAGP)
Acute myeloid leukemia  (IAGP)
Anemia  (IAGP)
Aplastic anemia  (IAGP)
Autoimmunity  (IAGP)
Autosomal dominant inheritance  (IAGP)
B lymphocytopenia  (IAGP)
Bone marrow hypocellularity  (IAGP)
Bruising susceptibility  (IAGP)
Cellulitis  (IAGP)
Cervical intraepithelial neoplasia  (IAGP)
Chronic otitis media  (IAGP)
Decreased CD4:CD8 ratio  (IAGP)
Epicanthus  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Hepatomegaly  (IAGP)
Hypercoagulability  (IAGP)
Hypotelorism  (IAGP)
Immunodeficiency  (IAGP)
Intermediate young adult onset  (IAGP)
Intracranial hemorrhage  (IAGP)
Leukemia  (IAGP)
Leukocytosis  (IAGP)
Long fingers  (IAGP)
Lymphadenopathy  (IAGP)
Lymphedema  (IAGP)
Lymphopenia  (IAGP)
Megakaryocyte nucleus hypolobulation  (IAGP)
Migraine  (IAGP)
Monocytopenia  (IAGP)
Multiple lineage myelodysplasia  (IAGP)
Myelodysplasia  (IAGP)
Myeloid leukemia  (IAGP)
Myeloproliferative disorder  (IAGP)
Nausea and vomiting  (IAGP)
Neutropenia  (IAGP)
Night sweats  (IAGP)
Osteomyelitis  (IAGP)
Pallor  (IAGP)
Pancytopenia  (IAGP)
Prolonged bleeding time  (IAGP)
Recurrent fungal infections  (IAGP)
Recurrent mycobacterium avium complex infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent viral infections  (IAGP)
Reduced natural killer cell count  (IAGP)
Respiratory failure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Splenomegaly  (IAGP)
Tapered finger  (IAGP)
Thrombocytopenia  (IAGP)
Typified by somatic mosaicism  (IAGP)
Verrucae  (IAGP)
Vertigo  (IAGP)
Visual loss  (IAGP)
Webbed neck  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Epigenetic regulation of GATA2 and its impact on normal karyotype acute myeloid leukemia. Celton M, etal., Leukemia. 2014 Aug;28(8):1617-26. doi: 10.1038/leu.2014.67. Epub 2014 Feb 11.
2. Overexpression of human GATA-1 and GATA-2 interferes with spine formation and produces depressive behavior in rats. Choi M, etal., PLoS One. 2014 Oct 23;9(10):e109253. doi: 10.1371/journal.pone.0109253. eCollection 2014.
3. GATA-1 and GATA-2 gene expression is related to the severity of dysplasia in myelodysplastic syndrome. Fadilah SA, etal., Leukemia. 2002 Aug;16(8):1563-5.
4. Decreased expression of transcription factor GATA-2 in haematopoietic stem cells in patients with aplastic anaemia. Fujimaki S, etal., Br J Haematol. 2001 Apr;113(1):52-7.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. GATA2 mutations in patients with acute myeloid leukemia-paired samples analyses show that the mutation is unstable during disease evolution. Hou HA, etal., Ann Hematol. 2015 Feb;94(2):211-21. doi: 10.1007/s00277-014-2208-8. Epub 2014 Sep 21.
7. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Hsu AP, etal., Blood. 2011 Sep 8;118(10):2653-5. doi: 10.1182/blood-2011-05-356352. Epub 2011 Jun 13.
8. Conditional Gata2 inactivation results in HSC loss and lymphatic mispatterning. Lim KC, etal., J Clin Invest. 2012 Oct;122(10):3705-17. doi: 10.1172/JCI61619. Epub 2012 Sep 10.
9. High GATA2 expression is a poor prognostic marker in pediatric acute myeloid leukemia. Luesink M, etal., Blood. 2012 Sep 6;120(10):2064-75. doi: 10.1182/blood-2011-12-397083. Epub 2012 Jul 11.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
12. Decreased mRNA expression of GATA1 and GATA2 is associated with tumor aggressiveness and poor outcome in clear cell renal cell carcinoma. Peters I, etal., Target Oncol. 2015 Jun;10(2):267-75. doi: 10.1007/s11523-014-0335-8. Epub 2014 Sep 19.
13. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. Simple and effective method for generating single-stranded DNA targets and probes. Tang X, etal., Biotechniques. 2006 Jun;40(6):759-63.
18. Circulating GATA2 mRNA is decreased among women destined to develop preeclampsia and may be of endothelial origin. Whigham CA, etal., Sci Rep. 2019 Jan 18;9(1):235. doi: 10.1038/s41598-018-36645-0.
19. GATA-2 L359 V mutation is exclusively associated with CML progression but not other hematological malignancies and GATA-2 P250A is a novel single nucleotide polymorphism. Zhang SJ, etal., Leuk Res. 2009 Aug;33(8):1141-3. doi: 10.1016/j.leukres.2009.02.025. Epub 2009 Mar 21.
Additional References at PubMed
PMID:1370462   PMID:1563207   PMID:1714909   PMID:7519472   PMID:7541039   PMID:7568177   PMID:7876160   PMID:8078582   PMID:8504932   PMID:8972903   PMID:9517987   PMID:10364157  
PMID:10367888   PMID:10411939   PMID:10731672   PMID:10873593   PMID:10938104   PMID:11278891   PMID:11567998   PMID:11787775   PMID:11877047   PMID:11964310   PMID:12045236   PMID:12073612  
PMID:12406094   PMID:12432220   PMID:12477932   PMID:12483298   PMID:12646178   PMID:12750312   PMID:14702039   PMID:15001660   PMID:15016828   PMID:15254248   PMID:15328158   PMID:15489334  
PMID:15632071   PMID:15659347   PMID:15673499   PMID:15837948   PMID:16153155   PMID:16344560   PMID:16396960   PMID:16607277   PMID:16672344   PMID:16934006   PMID:16960339   PMID:17095623  
PMID:17255359   PMID:17347142   PMID:17654061   PMID:18029348   PMID:18078130   PMID:18250304   PMID:18308945   PMID:18452556   PMID:18550858   PMID:18720385   PMID:18849568   PMID:19097174  
PMID:19168794   PMID:19198610   PMID:19212333   PMID:19242469   PMID:19274049   PMID:19322201   PMID:19323994   PMID:19453261   PMID:19522008   PMID:19528235   PMID:19684615   PMID:19706030  
PMID:19714312   PMID:19772889   PMID:19860791   PMID:19864173   PMID:19885677   PMID:19913121   PMID:19941826   PMID:20206639   PMID:20211142   PMID:20363750   PMID:20628086   PMID:20634887  
PMID:20705609   PMID:20838640   PMID:20963938   PMID:21297973   PMID:21571218   PMID:21666600   PMID:21738478   PMID:21738480   PMID:21765025   PMID:21788589   PMID:21808000   PMID:21816832  
PMID:21873635   PMID:21892158   PMID:21892162   PMID:21904383   PMID:21988832   PMID:22021428   PMID:22147895   PMID:22271902   PMID:22284968   PMID:22499991   PMID:22541434   PMID:22649106  
PMID:22814295   PMID:22865859   PMID:22942019   PMID:22996659   PMID:23028422   PMID:23223431   PMID:23322776   PMID:23327922   PMID:23333304   PMID:23365437   PMID:23365458   PMID:23423786  
PMID:23502222   PMID:23521373   PMID:23560626   PMID:23563236   PMID:23887938   PMID:23892628   PMID:24033149   PMID:24077845   PMID:24227816   PMID:24345756   PMID:24448395   PMID:24457600  
PMID:24498120   PMID:24509415   PMID:24603652   PMID:24614497   PMID:24639354   PMID:24703711   PMID:24703906   PMID:24754962   PMID:24786211   PMID:24807155   PMID:25056917   PMID:25092790  
PMID:25140787   PMID:25150255   PMID:25359990   PMID:25416956   PMID:25489091   PMID:25509816   PMID:25611491   PMID:25624456   PMID:25670080   PMID:25670854   PMID:25676417   PMID:25707267  
PMID:25707769   PMID:25810277   PMID:25907033   PMID:26161748   PMID:26214525   PMID:26264606   PMID:26287967   PMID:26325290   PMID:26710799   PMID:26751772   PMID:26766440   PMID:26767875  
PMID:27013649   PMID:27157394   PMID:27169477   PMID:27375010   PMID:27389056   PMID:27416790   PMID:27460045   PMID:27481672   PMID:27528231   PMID:27545880   PMID:27609421   PMID:27617961  
PMID:27651453   PMID:27780851   PMID:27783953   PMID:28038451   PMID:28093780   PMID:28114350   PMID:28179280   PMID:28209719   PMID:28271814   PMID:28373026   PMID:28381408   PMID:28473536  
PMID:28514442   PMID:28569748   PMID:28642594   PMID:28752392   PMID:28937943   PMID:29106391   PMID:29156497   PMID:29217535   PMID:29275211   PMID:29532200   PMID:29576527   PMID:29666442  
PMID:29724903   PMID:29861167   PMID:30021884   PMID:30030275   PMID:30047422   PMID:30190467   PMID:30232126   PMID:30245028   PMID:30463901   PMID:30478525   PMID:30564229   PMID:30578959  
PMID:30710465   PMID:30714451   PMID:30804502   PMID:30833300   PMID:30862715   PMID:31035956   PMID:31246134   PMID:31296150   PMID:31340620   PMID:31402335   PMID:31434974   PMID:31468074  
PMID:31501863   PMID:31515488   PMID:31582413   PMID:31591264   PMID:31785092   PMID:31933136   PMID:32205587   PMID:32250729   PMID:32296183   PMID:32330454   PMID:32335672   PMID:32430494  
PMID:32497548   PMID:32555368   PMID:32556109   PMID:32558139   PMID:32593672   PMID:32694731   PMID:32770553   PMID:32865708   PMID:32960960   PMID:33038986   PMID:33193444   PMID:33226740  
PMID:33417088   PMID:33513878   PMID:33570623   PMID:33661592   PMID:33759087   PMID:33831168   PMID:33856550   PMID:33957466   PMID:33961781   PMID:34040617   PMID:34075404   PMID:34125173  
PMID:34193836   PMID:34348000   PMID:34374210   PMID:34387894   PMID:34469508   PMID:34576178   PMID:34592889   PMID:34638133   PMID:34723452   PMID:34774887   PMID:34893945   PMID:35013218  
PMID:35140242   PMID:35181392   PMID:35534193   PMID:35603181   PMID:35690555   PMID:35748872   PMID:35752837   PMID:36041908   PMID:36251994   PMID:36268026   PMID:36331566   PMID:36416237  
PMID:36727400   PMID:36800818   PMID:36806146   PMID:36809258   PMID:37406166   PMID:37550764   PMID:37595058   PMID:37794021   PMID:37972693   PMID:38029365   PMID:38648485   PMID:38660832  
PMID:38695236  


Genomics

Comparative Map Data
GATA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383128,479,422 - 128,493,201 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3128,479,427 - 128,493,201 (-)EnsemblGRCh38hg38GRCh38
GRCh373128,198,265 - 128,212,044 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363129,680,960 - 129,694,718 (-)NCBINCBI36Build 36hg18NCBI36
Build 343129,680,969 - 129,694,726NCBI
Celera3126,626,234 - 126,639,997 (-)NCBICelera
Cytogenetic Map3q21.3NCBI
HuRef3125,582,307 - 125,596,070 (-)NCBIHuRef
CHM1_13128,161,207 - 128,175,078 (-)NCBICHM1_1
T2T-CHM13v2.03131,220,983 - 131,234,760 (-)NCBIT2T-CHM13v2.0
Gata2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39688,170,873 - 88,184,014 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl688,170,873 - 88,184,014 (+)EnsemblGRCm39 Ensembl
GRCm38688,193,891 - 88,207,032 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl688,193,891 - 88,207,032 (+)EnsemblGRCm38mm10GRCm38
MGSCv37688,148,658 - 88,157,026 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36688,164,309 - 88,172,670 (+)NCBIMGSCv36mm8
Celera690,136,051 - 90,144,243 (+)NCBICelera
Cytogenetic Map6D1NCBI
cM Map639.2NCBI
Gata2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84122,211,501 - 122,225,058 (+)NCBIGRCr8
mRatBN7.24120,654,205 - 120,667,763 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4120,658,986 - 120,667,761 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4126,131,415 - 126,140,191 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04121,906,173 - 121,914,950 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04120,530,424 - 120,539,200 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04120,129,028 - 120,142,490 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4120,133,713 - 120,142,488 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04185,369,926 - 185,383,944 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44122,279,753 - 122,288,528 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14122,524,233 - 122,533,009 (+)NCBI
Celera4109,615,354 - 109,624,129 (+)NCBICelera
Cytogenetic Map4q34NCBI
Gata2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542915,327,113 - 15,336,460 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542915,326,551 - 15,334,774 (+)NCBIChiLan1.0ChiLan1.0
GATA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22126,405,346 - 126,413,849 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13126,410,062 - 126,418,571 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03125,526,537 - 125,535,649 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13132,890,508 - 132,899,035 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3132,890,508 - 132,899,035 (-)Ensemblpanpan1.1panPan2
GATA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1202,472,251 - 2,488,380 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl202,473,912 - 2,480,991 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha202,508,307 - 2,517,105 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0202,492,701 - 2,501,504 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl202,492,704 - 2,565,743 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1202,213,473 - 2,222,266 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0202,540,074 - 2,548,847 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0202,500,417 - 2,509,217 (-)NCBIUU_Cfam_GSD_1.0
Gata2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494220,364,390 - 20,372,921 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936798406,258 - 414,931 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936798406,258 - 414,785 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GATA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1371,984,067 - 71,997,619 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11371,981,139 - 71,997,626 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21379,606,930 - 79,613,715 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GATA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12252,549,112 - 52,562,911 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2252,555,738 - 52,562,909 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041113,794,573 - 113,808,643 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gata2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624961143,358 - 154,003 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624961147,685 - 155,614 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GATA2
1298 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_032638.5(GATA2):c.1374C>T (p.Pro458=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001494633] Chr3:128481088 [GRCh38]
Chr3:128199931 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.872-5T>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000548492]|not specified [RCV001821591] Chr3:128484010 [GRCh38]
Chr3:128202853 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1128C>T (p.Tyr376=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000529797]|Hereditary cancer-predisposing syndrome [RCV002256391]|not provided [RCV001764593] Chr3:128481834 [GRCh38]
Chr3:128200677 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1407C>T (p.His469=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001493965] Chr3:128481055 [GRCh38]
Chr3:128199898 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1038C>T (p.Gly346=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000553013]|GATA2-related condition [RCV003900219] Chr3:128481924 [GRCh38]
Chr3:128200767 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.65C>G (p.Pro22Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000548083] Chr3:128486967 [GRCh38]
Chr3:128205810 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1187G>A (p.Arg396Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000529588]|Deafness-lymphedema-leukemia syndrome [RCV001541953]|not provided [RCV000984830] Chr3:128481275 [GRCh38]
Chr3:128200118 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1113C>T (p.Asn371=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000553793]|not provided [RCV003457722] Chr3:128481849 [GRCh38]
Chr3:128200692 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu) single nucleotide variant Acute myeloid leukemia [RCV003459251]|Deafness-lymphedema-leukemia syndrome [RCV000542992]|GATA2-related condition [RCV003389722]|Hereditary cancer-predisposing syndrome [RCV002255459]|not provided [RCV000984833]|not specified [RCV001821589] Chr3:128481188 [GRCh38]
Chr3:128200031 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.176A>G (p.Tyr59Cys) single nucleotide variant Acute myeloid leukemia [RCV003459252]|Deafness-lymphedema-leukemia syndrome [RCV000525982]|Monocytopenia with susceptibility to infections [RCV001331504] Chr3:128486856 [GRCh38]
Chr3:128205699 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1428G>A (p.Val476=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000526337] Chr3:128481034 [GRCh38]
Chr3:128199877 [GRCh37]
Chr3:3q21.3		 likely benign
NM_001145661.1(GATA2):c.-200_871+527del2032 deletion Deafness-lymphedema-leukemia syndrome [RCV001541965]|Monocytopenia with susceptibility to infections [RCV000022564] Chr3:128485200..128487231 [GRCh38]
Chr3:128204043..128206074 [GRCh37]
Chr3:3q21		 pathogenic
NM_032638.5(GATA2):c.1084_1095del (p.Arg362_Asn365del) deletion Deafness-lymphedema-leukemia syndrome [RCV001542117]|Monocytopenia with susceptibility to infections [RCV000022565] Chr3:128481867..128481878 [GRCh38]
Chr3:128200710..128200721 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.243delinsGC (p.Gly82fs) indel Deafness-lymphedema-leukemia syndrome [RCV001542136]|Monocytopenia with susceptibility to infections [RCV000022566] Chr3:128486355 [GRCh38]
Chr3:128205198 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.599dup (p.Gly200_Ser201insTer) duplication Deafness-lymphedema-leukemia syndrome [RCV001386684]|Deafness-lymphedema-leukemia syndrome [RCV001542189]|Monocytopenia with susceptibility to infections [RCV000022567]|not provided [RCV000984842] Chr3:128485998..128485999 [GRCh38]
Chr3:128204841..128204842 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1018-1G>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542153]|Deafness-lymphedema-leukemia syndrome [RCV003764625]|Monocytopenia with susceptibility to infections [RCV000022568] Chr3:128481945 [GRCh38]
Chr3:128200788 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.312_313dup (p.Leu105fs) duplication Deafness-lymphedema-leukemia syndrome [RCV000022569]|Deafness-lymphedema-leukemia syndrome [RCV001542142] Chr3:128486284..128486285 [GRCh38]
Chr3:128205127..128205128 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.232dup (p.Arg78fs) duplication Deafness-lymphedema-leukemia syndrome [RCV000022570]|Deafness-lymphedema-leukemia syndrome [RCV001542135] Chr3:128486365..128486366 [GRCh38]
Chr3:128205208..128205209 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1065_1067del (p.Thr358del) deletion Deafness-lymphedema-leukemia syndrome [RCV001542228]|Myelodysplastic syndrome [RCV000022574] Chr3:128481895..128481897 [GRCh38]
Chr3:128200738..128200740 [GRCh37]
Chr3:3q21.3		 pathogenic|risk factor
NM_032638.5(GATA2):c.981G>A (p.Gly327=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001394459]|Deafness-lymphedema-leukemia syndrome [RCV001541970] Chr3:128483896 [GRCh38]
Chr3:128202739 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1232C>T (p.Ala411Val) single nucleotide variant Acute myeloid leukemia [RCV000765710]|Acute myeloid leukemia [RCV003459250]|Deafness-lymphedema-leukemia syndrome [RCV000546615]|Hereditary cancer-predisposing syndrome [RCV002255458]|not provided [RCV003223653] Chr3:128481230 [GRCh38]
Chr3:128200073 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1405C>T (p.His469Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001331503] Chr3:128481057 [GRCh38]
Chr3:128199900 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1019_1023delinsGCCTT (p.Ser340_Ala341delinsCysLeu) indel Deafness-lymphedema-leukemia syndrome [RCV000527772] Chr3:128481939..128481943 [GRCh38]
Chr3:128200782..128200786 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1179C>G (p.Ile393Met) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000553311]|not specified [RCV001821588] Chr3:128481283 [GRCh38]
Chr3:128200126 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1329C>G (p.Leu443=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000525573] Chr3:128481133 [GRCh38]
Chr3:128199976 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.748C>T (p.Pro250Ser) single nucleotide variant Acute myeloid leukemia [RCV003459254]|Deafness-lymphedema-leukemia syndrome [RCV000547722] Chr3:128485850 [GRCh38]
Chr3:128204693 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp) single nucleotide variant Acute myeloid leukemia [RCV000445214]|Deafness-lymphedema-leukemia syndrome [RCV001384284]|Deafness-lymphedema-leukemia syndrome [RCV001541956]|Inborn genetic diseases [RCV004018663]|Leukemia, acute myeloid, susceptibility to [RCV000502442]|Monocytopenia with susceptibility to infections [RCV000022559]|not provided [RCV000984831] Chr3:128481270 [GRCh38]
Chr3:128200113 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.761C>T (p.Pro254Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001541968]|Monocytopenia with susceptibility to infections [RCV000022560] Chr3:128485837 [GRCh38]
Chr3:128204680 [GRCh37]
Chr3:3q21.3		 pathogenic|uncertain significance
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met) single nucleotide variant Acute myeloid leukemia [RCV000426616]|Deafness-lymphedema-leukemia syndrome [RCV000706855]|Deafness-lymphedema-leukemia syndrome [RCV001542226]|Leukemia, acute myeloid, susceptibility to [RCV000022563]|Monocytopenia with susceptibility to infections [RCV000022561]|Myelodysplastic syndrome [RCV000022562]|not provided [RCV000984820] Chr3:128481901 [GRCh38]
Chr3:128200744 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic|risk factor
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000022571]|Deafness-lymphedema-leukemia syndrome [RCV000812052]|Deafness-lymphedema-leukemia syndrome [RCV001542112]|GATA2-related condition [RCV003891441]|Monocytopenia with susceptibility to infections [RCV003325944]|not provided [RCV000984812] Chr3:128483868 [GRCh38]
Chr3:128202711 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000022572]|Deafness-lymphedema-leukemia syndrome [RCV001542161]|not provided [RCV001543679] Chr3:128481845 [GRCh38]
Chr3:128200688 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.1082G>T (p.Arg361Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000022573]|Deafness-lymphedema-leukemia syndrome [RCV001542238] Chr3:128481880 [GRCh38]
Chr3:128200723 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.189C>A (p.Pro63=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001211973] Chr3:128486843 [GRCh38]
Chr3:128205686 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1017+513_1017+540del deletion Deafness-lymphedema-leukemia syndrome [RCV001541945]|Monocytopenia with susceptibility to infections [RCV000032787] Chr3:128483320..128483347 [GRCh38]
Chr3:128202163..128202190 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.371C>A (p.Thr124Lys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000459028]|not specified [RCV000121146] Chr3:128486227 [GRCh38]
Chr3:128205070 [GRCh37]
Chr3:3q21.3		 uncertain significance|not provided
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000389010]|Deafness-lymphedema-leukemia syndrome [RCV001079258]|GATA2-related condition [RCV003891645]|not provided [RCV000232396]|not specified [RCV000121147] Chr3:128486117 [GRCh38]
Chr3:128204960 [GRCh37]
Chr3:3q21.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_032638.5(GATA2):c.748C>G (p.Pro250Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000261596]|Deafness-lymphedema-leukemia syndrome [RCV000459452]|not provided [RCV001657763]|not specified [RCV000121148] Chr3:128485850 [GRCh38]
Chr3:128204693 [GRCh37]
Chr3:3q21.3		 benign|likely benign|not provided
NM_032638.5(GATA2):c.490G>A (p.Ala164Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000332089]|Deafness-lymphedema-leukemia syndrome [RCV001521211]|Monocytopenia with susceptibility to infections [RCV001701605]|not provided [RCV001711393]|not specified [RCV000121149] Chr3:128486108 [GRCh38]
Chr3:128204951 [GRCh37]
Chr3:3q21.3		 benign|likely benign|not provided
NM_032638.5(GATA2):c.787G>A (p.Gly263Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000707549]|GATA2-related condition [RCV003398727]|not specified [RCV000121150] Chr3:128485811 [GRCh38]
Chr3:128204654 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance|not provided
NM_032638.5(GATA2):c.975G>A (p.Met325Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001964124] Chr3:128483902 [GRCh38]
Chr3:128202745 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1409C>G (p.Pro470Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001349271] Chr3:128481053 [GRCh38]
Chr3:128199896 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1221C>A (p.Ser407Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001312603] Chr3:128481241 [GRCh38]
Chr3:128200084 [GRCh37]
Chr3:3q21.3		 uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1 copy number loss See cases [RCV000137444] Chr3:126797420..128946623 [GRCh38]
Chr3:126516263..128665466 [GRCh37]
Chr3:127998953..130148156 [NCBI36]
Chr3:3q21.3		 pathogenic|uncertain significance
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 copy number loss See cases [RCV000139033] Chr3:112620977..128734134 [GRCh38]
Chr3:112339824..128452977 [GRCh37]
Chr3:113822514..129935667 [NCBI36]
Chr3:3q13.2-21.3		 pathogenic
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23		 uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1 copy number loss See cases [RCV000142787] Chr3:127607945..133566661 [GRCh38]
Chr3:127326788..133285505 [GRCh37]
Chr3:128809478..134768195 [NCBI36]
Chr3:3q21.3-22.1		 likely pathogenic
NM_032638.5(GATA2):c.1054T>C (p.Cys352Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542205]|Leukemia, acute myeloid, susceptibility to [RCV000194241] Chr3:128481908 [GRCh38]
Chr3:128200751 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000197751]|Deafness-lymphedema-leukemia syndrome [RCV001542124] Chr3:128481849 [GRCh38]
Chr3:128200692 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.1122_1125dup (p.Tyr376fs) duplication Deafness-lymphedema-leukemia syndrome [RCV000199975] Chr3:128481836..128481837 [GRCh38]
Chr3:128200679..128200680 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.857C>T (p.Ala286Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542217]|Leukemia, acute myeloid, susceptibility to [RCV000193630]|not provided [RCV000984851] Chr3:128485741 [GRCh38]
Chr3:128204584 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NM_032638.5(GATA2):c.1160_1168del (p.Thr387_Lys389del) deletion Deafness-lymphedema-leukemia syndrome [RCV000545396]|Monocytopenia with susceptibility to infections [RCV003989559] Chr3:128481294..128481302 [GRCh38]
Chr3:128200137..128200145 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1021_1024dup (p.Ala342fs) duplication Deafness-lymphedema-leukemia syndrome [RCV000704724]|Monocytopenia with susceptibility to infections [RCV000210903] Chr3:128481937..128481938 [GRCh38]
Chr3:128200780..128200781 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic|uncertain significance
NM_032638.5(GATA2):c.255C>T (p.Cys85=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000543937] Chr3:128486343 [GRCh38]
Chr3:128205186 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+8C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000227686]|Deafness-lymphedema-leukemia syndrome [RCV000987324]|GATA2-related condition [RCV003955370] Chr3:128483852 [GRCh38]
Chr3:128202695 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.279G>A (p.Pro93=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001079610]|not provided [RCV000228480] Chr3:128486319 [GRCh38]
Chr3:128205162 [GRCh37]
Chr3:3q21.3		 likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032638.5(GATA2):c.142T>A (p.Phe48Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000230807]|not provided [RCV001812654] Chr3:128486890 [GRCh38]
Chr3:128205733 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1359G>A (p.Leu453=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000231179] Chr3:128481103 [GRCh38]
Chr3:128199946 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.*183C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000232786]|Deafness-lymphedema-leukemia syndrome [RCV000313820]|not provided [RCV002292495] Chr3:128480836 [GRCh38]
Chr3:128199679 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001084371]|Deafness-lymphedema-leukemia syndrome [RCV001146587]|GATA2-related condition [RCV003891822]|Hereditary cancer-predisposing syndrome [RCV002257600]|Monocytopenia with susceptibility to infections [RCV003320354]|not provided [RCV000227295]|not specified [RCV000504452] Chr3:128486911 [GRCh38]
Chr3:128205754 [GRCh37]
Chr3:3q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032638.5(GATA2):c.1144-6C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001425560] Chr3:128481324 [GRCh38]
Chr3:128200167 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1410C>T (p.Pro470=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001504901] Chr3:128481052 [GRCh38]
Chr3:128199895 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.182C>T (p.Ala61Val) single nucleotide variant Acute myeloid leukemia [RCV000765713]|Acute myeloid leukemia [RCV003463686]|Deafness-lymphedema-leukemia syndrome [RCV000234722]|not provided [RCV000984835] Chr3:128486850 [GRCh38]
Chr3:128205693 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.136G>A (p.Asp46Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000233976]|Hereditary cancer-predisposing syndrome [RCV002256172]|Monocytopenia with susceptibility to infections [RCV001262682] Chr3:128486896 [GRCh38]
Chr3:128205739 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1035C>G (p.Ala345=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001089071]|not provided [RCV000229328] Chr3:128481927 [GRCh38]
Chr3:128200770 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.363C>T (p.Phe121=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000545262] Chr3:128486235 [GRCh38]
Chr3:128205078 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.872-5T>C single nucleotide variant not specified [RCV000253398] Chr3:128484010 [GRCh38]
Chr3:128202853 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.*482C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000283592]|Deafness-lymphedema-leukemia syndrome [RCV002523240] Chr3:128480537 [GRCh38]
Chr3:128199380 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.*410C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000282617] Chr3:128480609 [GRCh38]
Chr3:128199452 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.564G>C (p.Thr188=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000279481]|Deafness-lymphedema-leukemia syndrome [RCV000464938]|not provided [RCV001573275]|not specified [RCV000253740] Chr3:128486034 [GRCh38]
Chr3:128204877 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.480C>T (p.Thr160=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001080911]|Hereditary cancer-predisposing syndrome [RCV002255348]|not specified [RCV000254047] Chr3:128486118 [GRCh38]
Chr3:128204961 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.1023C>T (p.Ala341=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000550919]|Deafness-lymphedema-leukemia syndrome [RCV001144641] Chr3:128481939 [GRCh38]
Chr3:128200782 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.333C>T (p.His111=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001081434]|Deafness-lymphedema-leukemia syndrome [RCV001146585]|Hereditary cancer-predisposing syndrome [RCV002257615]|not specified [RCV000249258] Chr3:128486265 [GRCh38]
Chr3:128205108 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.15C>G (p.Pro5=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000395196]|Deafness-lymphedema-leukemia syndrome [RCV001519674]|Monocytopenia with susceptibility to infections [RCV001701962]|not provided [RCV001711803]|not specified [RCV000244510] Chr3:128487017 [GRCh38]
Chr3:128205860 [GRCh37]
Chr3:3q21.3		 benign
NM_032638.5(GATA2):c.*715G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000271002] Chr3:128480304 [GRCh38]
Chr3:128199147 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.*546C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000269993] Chr3:128480473 [GRCh38]
Chr3:128199316 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000320406]|Deafness-lymphedema-leukemia syndrome [RCV000461255]|not provided [RCV001589247]|not specified [RCV000252712] Chr3:128481229 [GRCh38]
Chr3:128200072 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.66C>G (p.Pro22=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001083133]|Deafness-lymphedema-leukemia syndrome [RCV001147499]|Hereditary cancer-predisposing syndrome [RCV002257616]|not provided [RCV000463353]|not specified [RCV000245508] Chr3:128486966 [GRCh38]
Chr3:128205809 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.1018-19C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001515203]|Deafness-lymphedema-leukemia syndrome [RCV001702386]|Monocytopenia with susceptibility to infections [RCV001701812]|not provided [RCV001707585]|not specified [RCV000247954] Chr3:128481963 [GRCh38]
Chr3:128200806 [GRCh37]
Chr3:3q21.3		 benign
NM_032638.5(GATA2):c.*1080G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000277017] Chr3:128479939 [GRCh38]
Chr3:128198782 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.1380C>T (p.His460=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000550195] Chr3:128481082 [GRCh38]
Chr3:128199925 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.-5C>G single nucleotide variant GATA2-related condition [RCV003891889]|not provided [RCV000984811]|not specified [RCV000243386] Chr3:128487036 [GRCh38]
Chr3:128205879 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.*1173G>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000298430] Chr3:128479846 [GRCh38]
Chr3:128198689 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*174G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000352865] Chr3:128480845 [GRCh38]
Chr3:128199688 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*420G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000374674] Chr3:128480599 [GRCh38]
Chr3:128199442 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*1229A>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000398948] Chr3:128479790 [GRCh38]
Chr3:128198633 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.*200C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000335359]|not provided [RCV001691975] Chr3:128480819 [GRCh38]
Chr3:128199662 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.*190C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000400839] Chr3:128480829 [GRCh38]
Chr3:128199672 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*570C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000380926] Chr3:128480449 [GRCh38]
Chr3:128199292 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.-276T>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000304447]|not specified [RCV000503441] Chr3:128493129 [GRCh38]
Chr3:128211972 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.*427C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000341065] Chr3:128480592 [GRCh38]
Chr3:128199435 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.-5C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000291391] Chr3:128487036 [GRCh38]
Chr3:128205879 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*508G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000322755] Chr3:128480511 [GRCh38]
Chr3:128199354 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.*32C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000307127] Chr3:128480987 [GRCh38]
Chr3:128199830 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.*24G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000364233] Chr3:128480995 [GRCh38]
Chr3:128199838 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.-46+13C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000390200] Chr3:128492886 [GRCh38]
Chr3:128211729 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.*697C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000328654] Chr3:128480322 [GRCh38]
Chr3:128199165 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.*882T>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000368151] Chr3:128480137 [GRCh38]
Chr3:128198980 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.114G>A (p.Gln38=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000349736]|Deafness-lymphedema-leukemia syndrome [RCV000476879]|Hereditary cancer-predisposing syndrome [RCV002256220]|not specified [RCV001821034] Chr3:128486918 [GRCh38]
Chr3:128205761 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.710G>A (p.Gly237Asp) single nucleotide variant Acute myeloid leukemia [RCV002502317]|Deafness-lymphedema-leukemia syndrome [RCV000371671]|Deafness-lymphedema-leukemia syndrome [RCV000535107]|GATA2-related condition [RCV003922500]|not specified [RCV000499900] Chr3:128485888 [GRCh38]
Chr3:128204731 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.*94C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000313113] Chr3:128480925 [GRCh38]
Chr3:128199768 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.1326C>T (p.His442=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000267304]|Deafness-lymphedema-leukemia syndrome [RCV000549350] Chr3:128481136 [GRCh38]
Chr3:128199979 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1215G>T (p.Lys405Asn) single nucleotide variant Acute myeloid leukemia [RCV003469607]|Deafness-lymphedema-leukemia syndrome [RCV001368018] Chr3:128481247 [GRCh38]
Chr3:128200090 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*479CTC[1] microsatellite Deafness-lymphedema-leukemia syndrome [RCV000380465] Chr3:128480535..128480537 [GRCh38]
Chr3:128199378..128199380 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.-180C>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000303376] Chr3:128493033 [GRCh38]
Chr3:128211876 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*101G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000400584] Chr3:128480918 [GRCh38]
Chr3:128199761 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.204G>T (p.Ala68=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000292485]|Deafness-lymphedema-leukemia syndrome [RCV000935383] Chr3:128486828 [GRCh38]
Chr3:128205671 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.*84A>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000365452] Chr3:128480935 [GRCh38]
Chr3:128199778 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.815G>A (p.Gly272Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000528406] Chr3:128485783 [GRCh38]
Chr3:128204626 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.724A>G (p.Thr242Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000319083]|Deafness-lymphedema-leukemia syndrome [RCV000822691] Chr3:128485874 [GRCh38]
Chr3:128204717 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*1144G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000369477] Chr3:128479875 [GRCh38]
Chr3:128198718 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.-215C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000408306] Chr3:128493068 [GRCh38]
Chr3:128211911 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*1543T>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000338144] Chr3:128479476 [GRCh38]
Chr3:128198319 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*884A>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000311107] Chr3:128480135 [GRCh38]
Chr3:128198978 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*73C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000393744] Chr3:128480946 [GRCh38]
Chr3:128199789 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*1544A>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000299662] Chr3:128479475 [GRCh38]
Chr3:128198318 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.-193C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000358084] Chr3:128493046 [GRCh38]
Chr3:128211889 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.800C>T (p.Pro267Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000358864] Chr3:128485798 [GRCh38]
Chr3:128204641 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.-42C>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000344031] Chr3:128487073 [GRCh38]
Chr3:128205916 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.345dup (p.Trp116fs) duplication not provided [RCV000599375] Chr3:128486252..128486253 [GRCh38]
Chr3:128205095..128205096 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) single nucleotide variant Acute myeloid leukemia [RCV003224332]|Deafness-lymphedema-leukemia syndrome [RCV000528994]|Deafness-lymphedema-leukemia syndrome [RCV001542237]|not provided [RCV000984821] Chr3:128481881 [GRCh38]
Chr3:128200724 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.30G>T (p.Trp10Cys) single nucleotide variant Acute myeloid leukemia [RCV003459253]|Deafness-lymphedema-leukemia syndrome [RCV000551947]|Hereditary cancer-predisposing syndrome [RCV002255460]|Monocytopenia with susceptibility to infections [RCV001007609]|not provided [RCV001764595]|not specified [RCV001821590] Chr3:128487002 [GRCh38]
Chr3:128205845 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.311C>T (p.Ala104Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000532650]|not provided [RCV003133348] Chr3:128486287 [GRCh38]
Chr3:128205130 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1320G>A (p.Val440=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000536849] Chr3:128481142 [GRCh38]
Chr3:128199985 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1302T>G (p.Ala434=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000559956] Chr3:128481160 [GRCh38]
Chr3:128200003 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.153C>T (p.His51=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000538909]|Hereditary cancer-predisposing syndrome [RCV002256392] Chr3:128486879 [GRCh38]
Chr3:128205722 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1263G>A (p.Met421Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000558730] Chr3:128481199 [GRCh38]
Chr3:128200042 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.177C>T (p.Tyr59=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000538541]|Hereditary cancer-predisposing syndrome [RCV002257829] Chr3:128486855 [GRCh38]
Chr3:128205698 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.16G>A (p.Glu6Lys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000556049] Chr3:128487016 [GRCh38]
Chr3:128205859 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.230-12_230-9del deletion Deafness-lymphedema-leukemia syndrome [RCV000459010]|Hereditary cancer-predisposing syndrome [RCV002256275]|not specified [RCV001821308] Chr3:128486377..128486380 [GRCh38]
Chr3:128205220..128205223 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1160C>A (p.Thr387Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000459207]|Deafness-lymphedema-leukemia syndrome [RCV001542174] Chr3:128481302 [GRCh38]
Chr3:128200145 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NM_032638.5(GATA2):c.1367C>T (p.Pro456Leu) single nucleotide variant Acute myeloid leukemia [RCV003470391]|Deafness-lymphedema-leukemia syndrome [RCV000466735]|Hereditary cancer-predisposing syndrome [RCV002256240]|not provided [RCV002281090]|not specified [RCV001821225] Chr3:128481095 [GRCh38]
Chr3:128199938 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1347C>A (p.Ser449=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000466788]|Deafness-lymphedema-leukemia syndrome [RCV001150745]|GATA2-related condition [RCV003925310]|Hereditary cancer-predisposing syndrome [RCV002258898] Chr3:128481115 [GRCh38]
Chr3:128199958 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.375A>C (p.Pro125=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000466822]|not specified [RCV001821306] Chr3:128486223 [GRCh38]
Chr3:128205066 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.669G>A (p.Met223Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000470368]|GATA2-related condition [RCV003418151]|not provided [RCV001785615] Chr3:128485929 [GRCh38]
Chr3:128204772 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.792C>T (p.Leu264=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000470438] Chr3:128485806 [GRCh38]
Chr3:128204649 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.213C>T (p.Ser71=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000474283]|GATA2-related condition [RCV003899937]|Hereditary cancer-predisposing syndrome [RCV002255400] Chr3:128486819 [GRCh38]
Chr3:128205662 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.682C>A (p.Pro228Thr) single nucleotide variant Acute myeloid leukemia [RCV003463840]|Deafness-lymphedema-leukemia syndrome [RCV000463273] Chr3:128485916 [GRCh38]
Chr3:128204759 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.299_300delinsTT (p.Gly100Val) indel Deafness-lymphedema-leukemia syndrome [RCV000466926]|GATA2-related condition [RCV003392266]|not specified [RCV000500768] Chr3:128486298..128486299 [GRCh38]
Chr3:128205141..128205142 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1018-5C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000474442]|not provided [RCV003328587] Chr3:128481949 [GRCh38]
Chr3:128200792 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.732C>T (p.His244=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001415680] Chr3:128485866 [GRCh38]
Chr3:128204709 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr) single nucleotide variant Acute myeloid leukemia [RCV000765709]|Acute myeloid leukemia [RCV003470392]|Deafness-lymphedema-leukemia syndrome [RCV000463544]|Deafness-lymphedema-leukemia syndrome [RCV001150746]|Deafness-lymphedema-leukemia syndrome [RCV001541960]|not specified [RCV000502835] Chr3:128481176 [GRCh38]
Chr3:128200019 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1173A>G (p.Glu391=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000467235]|GATA2-related condition [RCV003912817]|Hereditary cancer-predisposing syndrome [RCV002255401]|not specified [RCV001821307] Chr3:128481289 [GRCh38]
Chr3:128200132 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.1024G>T (p.Ala342Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000459902] Chr3:128481938 [GRCh38]
Chr3:128200781 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1185T>C (p.Thr395=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000463795]|Hereditary cancer-predisposing syndrome [RCV002255402]|not provided [RCV003424022] Chr3:128481277 [GRCh38]
Chr3:128200120 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.616G>C (p.Glu206Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000467411] Chr3:128485982 [GRCh38]
Chr3:128204825 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.156C>G (p.Leu52=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000474893] Chr3:128486876 [GRCh38]
Chr3:128205719 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1282T>A (p.Phe428Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000475187] Chr3:128481180 [GRCh38]
Chr3:128200023 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.423C>T (p.Tyr141=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000460167] Chr3:128486175 [GRCh38]
Chr3:128205018 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.628G>A (p.Gly210Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000464423] Chr3:128485970 [GRCh38]
Chr3:128204813 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.42G>T (p.Pro14=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000468242]|Deafness-lymphedema-leukemia syndrome [RCV001147500]|not provided [RCV001810959] Chr3:128486990 [GRCh38]
Chr3:128205833 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.755A>G (p.Tyr252Cys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000471971] Chr3:128485843 [GRCh38]
Chr3:128204686 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1200G>A (p.Met400Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000468485] Chr3:128481262 [GRCh38]
Chr3:128200105 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.573G>A (p.Ala191=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001400120] Chr3:128486025 [GRCh38]
Chr3:128204868 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1075T>G (p.Leu359Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000457272] Chr3:128481887 [GRCh38]
Chr3:128200730 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1386C>T (p.Ser462=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001499669] Chr3:128481076 [GRCh38]
Chr3:128199919 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1144-10T>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001422839] Chr3:128481328 [GRCh38]
Chr3:128200171 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.541G>A (p.Val181Met) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000468681] Chr3:128486057 [GRCh38]
Chr3:128204900 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1095C>T (p.Asn365=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000476240] Chr3:128481867 [GRCh38]
Chr3:128200710 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.707T>C (p.Met236Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000457631]|not provided [RCV000984847] Chr3:128485891 [GRCh38]
Chr3:128204734 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.242G>C (p.Gly81Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000461461] Chr3:128486356 [GRCh38]
Chr3:128205199 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1035C>T (p.Ala345=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000457805]|Hereditary cancer-predisposing syndrome [RCV002256278]|not specified [RCV000501563] Chr3:128481927 [GRCh38]
Chr3:128200770 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1064C>A (p.Thr355Lys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000472737] Chr3:128481898 [GRCh38]
Chr3:128200741 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1416G>A (p.Pro472=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000472901]|Deafness-lymphedema-leukemia syndrome [RCV001150744]|Hereditary cancer-predisposing syndrome [RCV002256277]|Inborn genetic diseases [RCV003243141]|not provided [RCV003221997]|not specified [RCV001821310] Chr3:128481046 [GRCh38]
Chr3:128199889 [GRCh37]
Chr3:3q21.3		 benign|likely benign|uncertain significance
NM_032638.5(GATA2):c.63C>T (p.His21=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000476857]|not provided [RCV003221996] Chr3:128486969 [GRCh38]
Chr3:128205812 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.639C>T (p.Tyr213=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000458319]|Hereditary cancer-predisposing syndrome [RCV002256276]|not specified [RCV001821309] Chr3:128485959 [GRCh38]
Chr3:128204802 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.445G>A (p.Gly149Arg) single nucleotide variant Acute myeloid leukemia [RCV000765712]|Deafness-lymphedema-leukemia syndrome [RCV000458357]|GATA2-related condition [RCV003972754]|not provided [RCV003236800]|not specified [RCV001821227] Chr3:128486153 [GRCh38]
Chr3:128204996 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg) single nucleotide variant Acute myeloid leukemia [RCV000765708]|Acute myeloid leukemia [RCV003470393]|Deafness-lymphedema-leukemia syndrome [RCV000473249]|not provided [RCV001764367] Chr3:128481114 [GRCh38]
Chr3:128199957 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1391G>T (p.Ser464Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000473302]|GATA2 deficiency with susceptibility to MDS/AML [RCV003153574]|not provided [RCV003228926]|not specified [RCV001821226] Chr3:128481071 [GRCh38]
Chr3:128199914 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.631G>C (p.Val211Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000477162] Chr3:128485967 [GRCh38]
Chr3:128204810 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1431C>T (p.Thr477=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000458399]|Hereditary cancer-predisposing syndrome [RCV002256274]|not specified [RCV001821305] Chr3:128481031 [GRCh38]
Chr3:128199874 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.310G>T (p.Ala104Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000462487] Chr3:128486288 [GRCh38]
Chr3:128205131 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.12:g.(?_128479422)_(128487076_?)del deletion Deafness-lymphedema-leukemia syndrome [RCV000466360] Chr3:128479422..128487076 [GRCh38]
Chr3:128198265..128205919 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.413T>C (p.Leu138Pro) single nucleotide variant Acute myeloid leukemia [RCV003463841]|Deafness-lymphedema-leukemia syndrome [RCV000473843]|Deafness-lymphedema-leukemia syndrome [RCV001146583]|Predisposition to myelodysplastic syndrome [RCV003444236] Chr3:128486185 [GRCh38]
Chr3:128205028 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.23C>A (p.Pro8Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000531890] Chr3:128487009 [GRCh38]
Chr3:128205852 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.-106T>G single nucleotide variant not specified [RCV000501977] Chr3:128492959 [GRCh38]
Chr3:128211802 [GRCh37]
Chr3:3q21.3		 benign|uncertain significance
NM_032638.5(GATA2):c.1081C>G (p.Arg361Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542236]|Leukemia, acute myeloid, susceptibility to [RCV000500143] Chr3:128481881 [GRCh38]
Chr3:128200724 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.829A>G (p.Ser277Gly) single nucleotide variant Acute myeloid leukemia [RCV000765711]|Acute myeloid leukemia [RCV003470628]|Deafness-lymphedema-leukemia syndrome [RCV000540993]|Hereditary cancer-predisposing syndrome [RCV002257773]|not provided [RCV001200274]|not specified [RCV000502247] Chr3:128485769 [GRCh38]
Chr3:128204612 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000987321]|Deafness-lymphedema-leukemia syndrome [RCV001542118]|Deafness-lymphedema-leukemia syndrome [RCV001857100]|GATA2-related condition [RCV003892022]|Leukemia, acute myeloid, susceptibility to [RCV000504503]|not provided [RCV000984822] Chr3:128481878 [GRCh38]
Chr3:128200721 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.1407C>A (p.His469Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001857099]|not specified [RCV000500353] Chr3:128481055 [GRCh38]
Chr3:128199898 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.-54C>T single nucleotide variant not specified [RCV000500402] Chr3:128492907 [GRCh38]
Chr3:128211750 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_032638.5(GATA2):c.1017+485A>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002524186]|not specified [RCV000503021] Chr3:128483375 [GRCh38]
Chr3:128202218 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.657G>A (p.Glu219=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000547181] Chr3:128485941 [GRCh38]
Chr3:128204784 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1372C>T (p.Pro458Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000538147] Chr3:128481090 [GRCh38]
Chr3:128199933 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.560C>G (p.Thr187Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000534566] Chr3:128486038 [GRCh38]
Chr3:128204881 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.863C>T (p.Ser288Phe) single nucleotide variant Inborn genetic diseases [RCV003294980] Chr3:128485735 [GRCh38]
Chr3:128204578 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1273T>C (p.Ser425Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000534788] Chr3:128481189 [GRCh38]
Chr3:128200032 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1025C>T (p.Ala342Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000540223]|not provided [RCV003148784] Chr3:128481937 [GRCh38]
Chr3:128200780 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.596G>T (p.Gly199Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000559731]|not provided [RCV003313102] Chr3:128486002 [GRCh38]
Chr3:128204845 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.108C>G (p.Pro36=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000541034] Chr3:128486924 [GRCh38]
Chr3:128205767 [GRCh37]
Chr3:3q21.3		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_032638.5(GATA2):c.208G>T (p.Val70Phe) single nucleotide variant Acute myeloid leukemia [RCV003224333]|Acute myeloid leukemia [RCV003470766]|Deafness-lymphedema-leukemia syndrome [RCV000555700] Chr3:128486824 [GRCh38]
Chr3:128205667 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.526A>C (p.Thr176Pro) single nucleotide variant Monocytopenia with susceptibility to infections [RCV000601326] Chr3:128486072 [GRCh38]
Chr3:128204915 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.139G>A (p.Val47Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000649491] Chr3:128486893 [GRCh38]
Chr3:128205736 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1248G>C (p.Glu416Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000649492] Chr3:128481214 [GRCh38]
Chr3:128200057 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.649_653dup (p.Thr218_Glu219insTer) duplication Deafness-lymphedema-leukemia syndrome [RCV000649493]|not provided [RCV000984844] Chr3:128485944..128485945 [GRCh38]
Chr3:128204787..128204788 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.45C>G (p.Ala15=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000649494] Chr3:128486987 [GRCh38]
Chr3:128205830 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.625G>A (p.Asp209Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000649495] Chr3:128485973 [GRCh38]
Chr3:128204816 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.593C>T (p.Ala198Val) single nucleotide variant Acute myeloid leukemia [RCV003459549]|Deafness-lymphedema-leukemia syndrome [RCV000649496]|Hereditary cancer-predisposing syndrome [RCV002257905] Chr3:128486005 [GRCh38]
Chr3:128204848 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1243G>A (p.Glu415Lys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000649497]|Deafness-lymphedema-leukemia syndrome [RCV001541959] Chr3:128481219 [GRCh38]
Chr3:128200062 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1230G>T (p.Gly410=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000649498]|Deafness-lymphedema-leukemia syndrome [RCV001150747]|Hereditary cancer-predisposing syndrome [RCV002256453]|not provided [RCV000984832]|not specified [RCV001816620] Chr3:128481232 [GRCh38]
Chr3:128200075 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.50T>A (p.Leu17Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000649499] Chr3:128486982 [GRCh38]
Chr3:128205825 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.302G>A (p.Gly101Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000649500] Chr3:128486296 [GRCh38]
Chr3:128205139 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.84C>T (p.Gly28=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000649501] Chr3:128486948 [GRCh38]
Chr3:128205791 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.706A>G (p.Met236Val) single nucleotide variant Acute myeloid leukemia [RCV003465413]|Deafness-lymphedema-leukemia syndrome [RCV000649502]|Monocytopenia with susceptibility to infections [RCV000853226]|not provided [RCV003314633]|not specified [RCV001816621] Chr3:128485892 [GRCh38]
Chr3:128204735 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1020G>A (p.Ser340=) single nucleotide variant Acute myeloid leukemia [RCV003465414]|Deafness-lymphedema-leukemia syndrome [RCV000649503]|GATA2-related condition [RCV003945647]|not provided [RCV003228971]|not specified [RCV001816622] Chr3:128481942 [GRCh38]
Chr3:128200785 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.629_631dup (p.Gly210dup) duplication Deafness-lymphedema-leukemia syndrome [RCV000649504] Chr3:128485966..128485967 [GRCh38]
Chr3:128204809..128204810 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1029A>G (p.Arg343=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001472361] Chr3:128481933 [GRCh38]
Chr3:128200776 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.729C>T (p.His243=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000649506]|GATA2-related condition [RCV003937957] Chr3:128485869 [GRCh38]
Chr3:128204712 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1143+203A>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000649507]|not provided [RCV001712537] Chr3:128481616 [GRCh38]
Chr3:128200459 [GRCh37]
Chr3:3q21.3		 benign
NM_032638.5(GATA2):c.1143+9G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001084318]|not provided [RCV000649508] Chr3:128481810 [GRCh38]
Chr3:128200653 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.279G>T (p.Pro93=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000649509] Chr3:128486319 [GRCh38]
Chr3:128205162 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.888C>T (p.Val296=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000649510]|Hereditary cancer-predisposing syndrome [RCV002257906]|not specified [RCV001816623] Chr3:128483989 [GRCh38]
Chr3:128202832 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.801C>T (p.Pro267=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000649511] Chr3:128485797 [GRCh38]
Chr3:128204640 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.684C>T (p.Pro228=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000649512] Chr3:128485914 [GRCh38]
Chr3:128204757 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.927C>T (p.Asp309=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000649513]|GATA2-related condition [RCV003892474] Chr3:128483950 [GRCh38]
Chr3:128202793 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.933C>T (p.Thr311=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000649514] Chr3:128483944 [GRCh38]
Chr3:128202787 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.674G>A (p.Ser225Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000560625] Chr3:128485924 [GRCh38]
Chr3:128204767 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.649C>T (p.Leu217=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000535347] Chr3:128485949 [GRCh38]
Chr3:128204792 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.492C>A (p.Ala164=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001421998] Chr3:128486106 [GRCh38]
Chr3:128204949 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.971A>G (p.Lys324Arg) single nucleotide variant Anemia [RCV000626766]|Deafness-lymphedema-leukemia syndrome [RCV001315971]|not provided [RCV000984854] Chr3:128483906 [GRCh38]
Chr3:128202749 [GRCh37]
Chr3:3q21.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_032638.5(GATA2):c.890_903dup (p.Ala302fs) duplication Deafness-lymphedema-leukemia syndrome [RCV000686956] Chr3:128483973..128483974 [GRCh38]
Chr3:128202816..128202817 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1017+527G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000685305] Chr3:128483333 [GRCh38]
Chr3:128202176 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.729C>G (p.His243Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000700500] Chr3:128485869 [GRCh38]
Chr3:128204712 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.224C>G (p.Ala75Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000700771] Chr3:128486808 [GRCh38]
Chr3:128205651 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+572C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000686407]|Deafness-lymphedema-leukemia syndrome [RCV001542146]|not provided [RCV000984814] Chr3:128483288 [GRCh38]
Chr3:128202131 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.818G>T (p.Gly273Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000686517] Chr3:128485780 [GRCh38]
Chr3:128204623 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.920G>A (p.Arg307Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000689886] Chr3:128483957 [GRCh38]
Chr3:128202800 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1385C>A (p.Ser462Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000704488]|not provided [RCV003442052] Chr3:128481077 [GRCh38]
Chr3:128199920 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.575C>T (p.Ser192Phe) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000690733] Chr3:128486023 [GRCh38]
Chr3:128204866 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.654G>A (p.Thr218=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000707579]|Hereditary cancer-predisposing syndrome [RCV002257950] Chr3:128485944 [GRCh38]
Chr3:128204787 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.481C>T (p.Pro161Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000688241] Chr3:128486117 [GRCh38]
Chr3:128204960 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.70_71insTGT (p.Asp23_Ser24insLeu) insertion Deafness-lymphedema-leukemia syndrome [RCV000706249] Chr3:128486961..128486962 [GRCh38]
Chr3:128205804..128205805 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.11:g.(?_128202693)_(128205884_?)dup duplication Deafness-lymphedema-leukemia syndrome [RCV000708374] Chr3:128483850..128487041 [GRCh38]
Chr3:128202693..128205884 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.532C>T (p.Pro178Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000703954] Chr3:128486066 [GRCh38]
Chr3:128204909 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.860G>A (p.Arg287His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000694812]|Hereditary cancer-predisposing syndrome [RCV002257935] Chr3:128485738 [GRCh38]
Chr3:128204581 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.761C>G (p.Pro254Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000694952] Chr3:128485837 [GRCh38]
Chr3:128204680 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1236G>T (p.Glu412Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000687942] Chr3:128481226 [GRCh38]
Chr3:128200069 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.743C>T (p.Thr248Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000695588] Chr3:128485855 [GRCh38]
Chr3:128204698 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1036G>A (p.Gly346Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000704865]|Deafness-lymphedema-leukemia syndrome [RCV001541976]|not specified [RCV001816732] Chr3:128481926 [GRCh38]
Chr3:128200769 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1144G>T (p.Val382Phe) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000703003] Chr3:128481318 [GRCh38]
Chr3:128200161 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1402G>A (p.Gly468Ser) single nucleotide variant Acute myeloid leukemia [RCV003460945]|Deafness-lymphedema-leukemia syndrome [RCV000696156]|not provided [RCV001726307] Chr3:128481060 [GRCh38]
Chr3:128199903 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1331C>T (p.Pro444Leu) single nucleotide variant Acute myeloid leukemia [RCV003465596]|Deafness-lymphedema-leukemia syndrome [RCV000696199] Chr3:128481131 [GRCh38]
Chr3:128199974 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.661A>C (p.Met221Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000700032]|Deafness-lymphedema-leukemia syndrome [RCV000987326] Chr3:128485937 [GRCh38]
Chr3:128204780 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1370C>T (p.Thr457Met) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000691681]|GATA2-related condition [RCV003411607]|not provided [RCV002264975] Chr3:128481092 [GRCh38]
Chr3:128199935 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.818dup (p.Pro274fs) duplication Deafness-lymphedema-leukemia syndrome [RCV000696729]|Deafness-lymphedema-leukemia syndrome [RCV001542216] Chr3:128485779..128485780 [GRCh38]
Chr3:128204622..128204623 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1121G>A (p.Gly374Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000696775]|not provided [RCV001508504] Chr3:128481841 [GRCh38]
Chr3:128200684 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NM_032638.5(GATA2):c.59A>C (p.Gln20Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000697049] Chr3:128486973 [GRCh38]
Chr3:128205816 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.469G>T (p.Ala157Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000687105] Chr3:128486129 [GRCh38]
Chr3:128204972 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.456C>A (p.Ser152Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000703776] Chr3:128486142 [GRCh38]
Chr3:128204985 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.523C>T (p.Pro175Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000806188] Chr3:128486075 [GRCh38]
Chr3:128204918 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.12:g.(?_128486793)_(128487041_?)del deletion Deafness-lymphedema-leukemia syndrome [RCV000813963] Chr3:128486793..128487041 [GRCh38]
Chr3:128205636..128205884 [GRCh37]
Chr3:3q21.3		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_032638.5(GATA2):c.1347C>T (p.Ser449=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000960092] Chr3:128481115 [GRCh38]
Chr3:128199958 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.83del (p.Gly28fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001541944] Chr3:128486949 [GRCh38]
Chr3:128205792 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1073C>A (p.Thr358Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001541947] Chr3:128481889 [GRCh38]
Chr3:128200732 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1172_1175del (p.Glu391fs) microsatellite Deafness-lymphedema-leukemia syndrome [RCV001541951] Chr3:128481287..128481290 [GRCh38]
Chr3:128200130..128200133 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1281dup (p.Phe428fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001541958] Chr3:128481180..128481181 [GRCh38]
Chr3:128200023..128200024 [GRCh37]
Chr3:3q21.3		 pathogenic
NC_000003.11:g.(?_128199862)_(128200787_?)del deletion Deafness-lymphedema-leukemia syndrome [RCV001541966] Chr3:128199862..128200787 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1034_1035insTCTTCTTGTGGCGGCTCTTCTGGCGGC (p.Ala345_Gly346insLeuLeuValAlaAlaLeuLeuAlaAla) microsatellite Deafness-lymphedema-leukemia syndrome [RCV001541967] Chr3:128481927..128481928 [GRCh38]
Chr3:128200770..128200771 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1017+582G>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001541972]|Deafness-lymphedema-leukemia syndrome [RCV002071961] Chr3:128483278 [GRCh38]
Chr3:128202121 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.941_951del (p.Tyr314fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542102] Chr3:128483926..128483936 [GRCh38]
Chr3:128202769..128202779 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.970_994dup (p.Leu332fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542111] Chr3:128483882..128483883 [GRCh38]
Chr3:128202725..128202726 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1017+1del deletion Deafness-lymphedema-leukemia syndrome [RCV001542113] Chr3:128483859 [GRCh38]
Chr3:128202702 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1085G>C (p.Arg362Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542119] Chr3:128481877 [GRCh38]
Chr3:128200720 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1099del (p.Asp367fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542120] Chr3:128481863 [GRCh38]
Chr3:128200706 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1099dup (p.Asp367fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542121] Chr3:128481862..128481863 [GRCh38]
Chr3:128200705..128200706 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1103_1104del (p.Pro368fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542122] Chr3:128481858..128481859 [GRCh38]
Chr3:128200701..128200702 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1113del (p.Asn371fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542126] Chr3:128481849 [GRCh38]
Chr3:128200692 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1118G>A (p.Cys373Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542129] Chr3:128481844 [GRCh38]
Chr3:128200687 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1018-2A>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542150]|Deafness-lymphedema-leukemia syndrome [RCV002570650] Chr3:128481946 [GRCh38]
Chr3:128200789 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1018_1028del deletion Deafness-lymphedema-leukemia syndrome [RCV001542154] Chr3:128481934..128481944 [GRCh38]
Chr3:128200777..128200787 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1019_1020insCGACTGGGAGGGCAAGGCAG (p.Ala341fs) insertion Deafness-lymphedema-leukemia syndrome [RCV001542156] Chr3:128481942..128481943 [GRCh38]
Chr3:128200785..128200786 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1123C>T (p.Leu375Phe) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542162] Chr3:128481839 [GRCh38]
Chr3:128200682 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1142del (p.Asn381fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542168] Chr3:128481820 [GRCh38]
Chr3:128200663 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1143+200_1198del deletion Deafness-lymphedema-leukemia syndrome [RCV001542173] Chr3:128481264..128481619 [GRCh38]
Chr3:128200107..128200462 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.353del (p.Val118fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542176] Chr3:128486245 [GRCh38]
Chr3:128205088 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.416_417del (p.Ser139fs) microsatellite Deafness-lymphedema-leukemia syndrome [RCV001542179] Chr3:128486181..128486182 [GRCh38]
Chr3:128205024..128205025 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.423C>A (p.Tyr141Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542181] Chr3:128486175 [GRCh38]
Chr3:128205018 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.579dup (p.Ala194fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542185] Chr3:128486018..128486019 [GRCh38]
Chr3:128204861..128204862 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.593del (p.Ala198fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542186] Chr3:128486005 [GRCh38]
Chr3:128204848 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.586_593dup (p.Gly199fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542187] Chr3:128486004..128486005 [GRCh38]
Chr3:128204847..128204848 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1045T>G (p.Cys349Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542203] Chr3:128481917 [GRCh38]
Chr3:128200760 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.670G>T (p.Glu224Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542208] Chr3:128485928 [GRCh38]
Chr3:128204771 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.685del (p.Leu229fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542209] Chr3:128485913 [GRCh38]
Chr3:128204756 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.735dup (p.Ile246fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542211] Chr3:128485862..128485863 [GRCh38]
Chr3:128204705..128204706 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.917G>A (p.Trp306Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542221] Chr3:128483960 [GRCh38]
Chr3:128202803 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1055G>T (p.Cys352Phe) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542224] Chr3:128481907 [GRCh38]
Chr3:128200750 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1060A>C (p.Thr354Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542225] Chr3:128481902 [GRCh38]
Chr3:128200745 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1070C>T (p.Thr357Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542232]|Deafness-lymphedema-leukemia syndrome [RCV002568258] Chr3:128481892 [GRCh38]
Chr3:128200735 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NM_032638.5(GATA2):c.1078T>A (p.Trp360Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542234] Chr3:128481884 [GRCh38]
Chr3:128200727 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1079G>T (p.Trp360Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542235] Chr3:128481883 [GRCh38]
Chr3:128200726 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.279G>C (p.Pro93=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000869672] Chr3:128486319 [GRCh38]
Chr3:128205162 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.822G>A (p.Pro274=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001462207] Chr3:128485776 [GRCh38]
Chr3:128204619 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.468G>A (p.Val156=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001444796] Chr3:128486130 [GRCh38]
Chr3:128204973 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1085G>A (p.Arg362Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000761281]|Deafness-lymphedema-leukemia syndrome [RCV002533864]|not provided [RCV001508505] Chr3:128481877 [GRCh38]
Chr3:128200720 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NM_032638.5(GATA2):c.230-194del deletion not provided [RCV001564395] Chr3:128486562 [GRCh38]
Chr3:128205405 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.871+442G>C single nucleotide variant not provided [RCV001569736] Chr3:128485285 [GRCh38]
Chr3:128204128 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.839del (p.Pro280fs) deletion Monocytopenia with susceptibility to infections [RCV000787953] Chr3:128485759 [GRCh38]
Chr3:128204602 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1165_1170del (p.Lys389_Lys390del) deletion not provided [RCV000984827] Chr3:128481292..128481297 [GRCh38]
Chr3:128200135..128200140 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.405_409delinsGTA (p.Gly136fs) indel Myelodysplastic syndrome [RCV003444729]|not provided [RCV000984837] Chr3:128486189..128486193 [GRCh38]
Chr3:128205032..128205036 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.524C>G (p.Pro175Arg) single nucleotide variant not provided [RCV000984838] Chr3:128486074 [GRCh38]
Chr3:128204917 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.554_628delinsTAGCACCACGGGGGCT (p.Pro185fs) indel not provided [RCV000984839] Chr3:128485970..128486044 [GRCh38]
Chr3:128204813..128204887 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.561dup (p.Thr188fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542184]|not provided [RCV000984840] Chr3:128486036..128486037 [GRCh38]
Chr3:128204879..128204880 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.785G>A (p.Ser262Asn) single nucleotide variant not provided [RCV000984848] Chr3:128485813 [GRCh38]
Chr3:128204656 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.802G>T (p.Gly268Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542214]|not provided [RCV000984849] Chr3:128485796 [GRCh38]
Chr3:128204639 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.844C>T (p.Gln282Ter) single nucleotide variant not provided [RCV000984850] Chr3:128485754 [GRCh38]
Chr3:128204597 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.890del (p.Asn297fs) deletion not provided [RCV000984853] Chr3:128483987 [GRCh38]
Chr3:128202830 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.417T>C (p.Ser139=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001429609] Chr3:128486181 [GRCh38]
Chr3:128205024 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1018-6_1018-3dup duplication Deafness-lymphedema-leukemia syndrome [RCV000951169] Chr3:128481946..128481947 [GRCh38]
Chr3:128200789..128200790 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1371G>A (p.Thr457=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000951447]|not specified [RCV001818972] Chr3:128481091 [GRCh38]
Chr3:128199934 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.381C>T (p.His127=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000868417] Chr3:128486217 [GRCh38]
Chr3:128205060 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.372G>A (p.Thr124=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001438641] Chr3:128486226 [GRCh38]
Chr3:128205069 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1323C>T (p.Gly441=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000944080] Chr3:128481139 [GRCh38]
Chr3:128199982 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.867T>C (p.Cys289=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000946231] Chr3:128485731 [GRCh38]
Chr3:128204574 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.756T>C (p.Tyr252=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000877968] Chr3:128485842 [GRCh38]
Chr3:128204685 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.189C>T (p.Pro63=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001081557]|Hereditary cancer-predisposing syndrome [RCV002255561]|not provided [RCV000872327] Chr3:128486843 [GRCh38]
Chr3:128205686 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1401C>T (p.Phe467=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000866168]|not specified [RCV001816975] Chr3:128481061 [GRCh38]
Chr3:128199904 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.733C>T (p.Pro245Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001055009] Chr3:128485865 [GRCh38]
Chr3:128204708 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.571G>A (p.Ala191Thr) single nucleotide variant Acute myeloid leukemia [RCV003462575]|Deafness-lymphedema-leukemia syndrome [RCV001058572] Chr3:128486027 [GRCh38]
Chr3:128204870 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.224C>T (p.Ala75Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001061948] Chr3:128486808 [GRCh38]
Chr3:128205651 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.790C>T (p.Leu264Phe) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001062048] Chr3:128485808 [GRCh38]
Chr3:128204651 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.722C>T (p.Ala241Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001051492] Chr3:128485876 [GRCh38]
Chr3:128204719 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.719C>T (p.Pro240Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001042615] Chr3:128485879 [GRCh38]
Chr3:128204722 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1083_1085dup (p.Arg362dup) duplication Deafness-lymphedema-leukemia syndrome [RCV001069965]|not provided [RCV001547703] Chr3:128481876..128481877 [GRCh38]
Chr3:128200719..128200720 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NC_000003.12:g.(?_128481009)_(128487041_?)dup duplication Deafness-lymphedema-leukemia syndrome [RCV001032427] Chr3:128199852..128205884 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1143+242G>C single nucleotide variant not provided [RCV003312585] Chr3:128481577 [GRCh38]
Chr3:128200420 [GRCh37]
Chr3:3q21.3		 benign
NM_032638.5(GATA2):c.1206C>T (p.Asn402=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000869801] Chr3:128481256 [GRCh38]
Chr3:128200099 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.383C>T (p.Pro128Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001060446] Chr3:128486215 [GRCh38]
Chr3:128205058 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.8T>C (p.Val3Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001036387] Chr3:128487024 [GRCh38]
Chr3:128205867 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.46G>A (p.Val16Met) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001038330]|Increased risk to develop myelodysplastic syndrome, acute myeloid leukemia, or chronic myelomonocytic leukemia [RCV003153899] Chr3:128486986 [GRCh38]
Chr3:128205829 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.121C>T (p.Pro41Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001052565] Chr3:128486911 [GRCh38]
Chr3:128205754 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1040_1041delinsAT (p.Thr347Asn) indel Deafness-lymphedema-leukemia syndrome [RCV001057667] Chr3:128481921..128481922 [GRCh38]
Chr3:128200764..128200765 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.63C>A (p.His21Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001050933] Chr3:128486969 [GRCh38]
Chr3:128205812 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1423A>T (p.Met475Leu) single nucleotide variant Acute myeloid leukemia [RCV003461159]|Deafness-lymphedema-leukemia syndrome [RCV000806325] Chr3:128481039 [GRCh38]
Chr3:128199882 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.945G>C (p.Leu315=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000878265] Chr3:128483932 [GRCh38]
Chr3:128202775 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.966C>T (p.Tyr322=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001424732] Chr3:128483911 [GRCh38]
Chr3:128202754 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.123T>C (p.Pro41=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000872857] Chr3:128486909 [GRCh38]
Chr3:128205752 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+518T>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000867650] Chr3:128483342 [GRCh38]
Chr3:128202185 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.222C>T (p.Pro74=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001477372] Chr3:128486810 [GRCh38]
Chr3:128205653 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+525C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000870029]|not specified [RCV001816990] Chr3:128483335 [GRCh38]
Chr3:128202178 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1332G>A (p.Pro444=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000870363] Chr3:128481130 [GRCh38]
Chr3:128199973 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.315C>G (p.Leu105=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001146586]|Deafness-lymphedema-leukemia syndrome [RCV001406971] Chr3:128486283 [GRCh38]
Chr3:128205126 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1371G>C (p.Thr457=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001429551] Chr3:128481091 [GRCh38]
Chr3:128199934 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001541952]|Deafness-lymphedema-leukemia syndrome [RCV002549629]|not provided [RCV000984829] Chr3:128481276 [GRCh38]
Chr3:128200119 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.1339A>C (p.Ser447Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001541962]|not provided [RCV000984834] Chr3:128481123 [GRCh38]
Chr3:128199966 [GRCh37]
Chr3:3q21.3		 pathogenic|uncertain significance
NM_032638.5(GATA2):c.229+127C>T single nucleotide variant not provided [RCV001644869]|not specified [RCV000984836] Chr3:128486676 [GRCh38]
Chr3:128205519 [GRCh37]
Chr3:3q21.3		 benign
NM_032638.5(GATA2):c.64C>A (p.Pro22Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002549630]|not provided [RCV000984845] Chr3:128486968 [GRCh38]
Chr3:128205811 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.655dup (p.Glu219fs) duplication not provided [RCV000984846] Chr3:128485942..128485943 [GRCh38]
Chr3:128204785..128204786 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.183C>T (p.Ala61=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000872462] Chr3:128486849 [GRCh38]
Chr3:128205692 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+9G>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001437237] Chr3:128483851 [GRCh38]
Chr3:128202694 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.42G>A (p.Pro14=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001474606] Chr3:128486990 [GRCh38]
Chr3:128205833 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1143+8C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000869238]|Deafness-lymphedema-leukemia syndrome [RCV001541977]|Hereditary cancer-predisposing syndrome [RCV002256569] Chr3:128481811 [GRCh38]
Chr3:128200654 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.872-9C>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000922070] Chr3:128484014 [GRCh38]
Chr3:128202857 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.174C>A (p.Pro58=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001411662] Chr3:128486858 [GRCh38]
Chr3:128205701 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.66C>T (p.Pro22=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001444467] Chr3:128486966 [GRCh38]
Chr3:128205809 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1312G>T (p.Ala438Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000815723] Chr3:128481150 [GRCh38]
Chr3:128199993 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.425C>T (p.Pro142Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000820962] Chr3:128486173 [GRCh38]
Chr3:128205016 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.627C>T (p.Asp209=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000871774] Chr3:128485971 [GRCh38]
Chr3:128204814 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.809T>G (p.Phe270Cys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000813214] Chr3:128485789 [GRCh38]
Chr3:128204632 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.832T>A (p.Phe278Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000796875] Chr3:128485766 [GRCh38]
Chr3:128204609 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.160T>G (p.Ser54Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000813253] Chr3:128486872 [GRCh38]
Chr3:128205715 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1217A>T (p.Lys406Met) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000799484] Chr3:128481245 [GRCh38]
Chr3:128200088 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.409C>T (p.Pro137Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000814315]|not specified [RCV001816891] Chr3:128486189 [GRCh38]
Chr3:128205032 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.852C>T (p.Ser284=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000819346]|not provided [RCV003442113]|not specified [RCV003489910] Chr3:128485746 [GRCh38]
Chr3:128204589 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1017+513G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000803054] Chr3:128483347 [GRCh38]
Chr3:128202190 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.40C>T (p.Pro14Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000807890] Chr3:128486992 [GRCh38]
Chr3:128205835 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.206G>A (p.Arg69His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000805266] Chr3:128486826 [GRCh38]
Chr3:128205669 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.338A>G (p.His113Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000824630]|GATA2-related condition [RCV003396460] Chr3:128486260 [GRCh38]
Chr3:128205103 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.101T>C (p.Met34Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000808230] Chr3:128486931 [GRCh38]
Chr3:128205774 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.504C>T (p.Ser168=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001492666] Chr3:128486094 [GRCh38]
Chr3:128204937 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000987322] Chr3:128481916 [GRCh38]
Chr3:128200759 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1024G>A (p.Ala342Thr) single nucleotide variant Acute myeloid leukemia [RCV003461176]|Deafness-lymphedema-leukemia syndrome [RCV000808036]|Deafness-lymphedema-leukemia syndrome [RCV001541975] Chr3:128481938 [GRCh38]
Chr3:128200781 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.455G>A (p.Ser152Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000805646] Chr3:128486143 [GRCh38]
Chr3:128204986 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.397G>A (p.Gly133Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000792100] Chr3:128486201 [GRCh38]
Chr3:128205044 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1232C>A (p.Ala411Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000796362] Chr3:128481230 [GRCh38]
Chr3:128200073 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.76C>A (p.His26Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000818581] Chr3:128486956 [GRCh38]
Chr3:128205799 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.592G>A (p.Ala198Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000803972] Chr3:128486006 [GRCh38]
Chr3:128204849 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.689G>A (p.Arg230His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000817105] Chr3:128485909 [GRCh38]
Chr3:128204752 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.90G>C (p.Ala30=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000870134] Chr3:128486942 [GRCh38]
Chr3:128205785 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1134G>A (p.Lys378=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000937653] Chr3:128481828 [GRCh38]
Chr3:128200671 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.15_16delinsGC (p.Glu6Gln) indel Deafness-lymphedema-leukemia syndrome [RCV000812513] Chr3:128487016..128487017 [GRCh38]
Chr3:128205859..128205860 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.803G>T (p.Gly268Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000797080] Chr3:128485795 [GRCh38]
Chr3:128204638 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.988C>T (p.Arg330Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000793168]|Deafness-lymphedema-leukemia syndrome [RCV001542110] Chr3:128483889 [GRCh38]
Chr3:128202732 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.11C>A (p.Ala4Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000803337] Chr3:128487021 [GRCh38]
Chr3:128205864 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1300G>C (p.Ala434Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000812311] Chr3:128481162 [GRCh38]
Chr3:128200005 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.149A>G (p.Asn50Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000799547] Chr3:128486883 [GRCh38]
Chr3:128205726 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1023_1038dup (p.Thr347fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001541946]|not provided [RCV000788787] Chr3:128481923..128481924 [GRCh38]
Chr3:128200766..128200767 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.28T>C (p.Trp10Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000813153] Chr3:128487004 [GRCh38]
Chr3:128205847 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.494A>T (p.His165Leu) single nucleotide variant Acute myeloid leukemia [RCV002495140]|Deafness-lymphedema-leukemia syndrome [RCV000813428] Chr3:128486104 [GRCh38]
Chr3:128204947 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.953_977dup (p.Gly327fs) duplication not provided [RCV000788382] Chr3:128483899..128483900 [GRCh38]
Chr3:128202742..128202743 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.495C>A (p.His165Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000813612] Chr3:128486103 [GRCh38]
Chr3:128204946 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.971del (p.Lys324fs) deletion Deafness-lymphedema-leukemia syndrome [RCV000800905]|Monocytopenia with susceptibility to infections [RCV001335241] Chr3:128483906 [GRCh38]
Chr3:128202749 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.848G>A (p.Arg283His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000800918] Chr3:128485750 [GRCh38]
Chr3:128204593 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.599G>A (p.Gly200Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000817386] Chr3:128485999 [GRCh38]
Chr3:128204842 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.727C>T (p.His243Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000804249] Chr3:128485871 [GRCh38]
Chr3:128204714 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.706A>C (p.Met236Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000801426] Chr3:128485892 [GRCh38]
Chr3:128204735 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.457G>A (p.Gly153Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000801631] Chr3:128486141 [GRCh38]
Chr3:128204984 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.62A>T (p.His21Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000810657] Chr3:128486970 [GRCh38]
Chr3:128205813 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.419T>C (p.Val140Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000797991] Chr3:128486179 [GRCh38]
Chr3:128205022 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.539A>C (p.Glu180Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000821815] Chr3:128486059 [GRCh38]
Chr3:128204902 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.358C>T (p.Pro120Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000802400]|Hereditary cancer-predisposing syndrome [RCV002256521]|not specified [RCV001816864] Chr3:128486240 [GRCh38]
Chr3:128205083 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1143T>C (p.Asn381=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000818839] Chr3:128481819 [GRCh38]
Chr3:128200662 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.636G>T (p.Lys212Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000809166] Chr3:128485962 [GRCh38]
Chr3:128204805 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.278C>A (p.Pro93Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000805812] Chr3:128486320 [GRCh38]
Chr3:128205163 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*418G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001146467] Chr3:128480601 [GRCh38]
Chr3:128199444 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*1418G>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001149132] Chr3:128479601 [GRCh38]
Chr3:128198444 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.568G>T (p.Ala190Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001067980] Chr3:128486030 [GRCh38]
Chr3:128204873 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.762G>A (p.Pro254=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001045895] Chr3:128485836 [GRCh38]
Chr3:128204679 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1376T>A (p.Ile459Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001067819]|not provided [RCV003442194] Chr3:128481086 [GRCh38]
Chr3:128199929 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1315C>T (p.Pro439Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000796346] Chr3:128481147 [GRCh38]
Chr3:128199990 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*13C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001150743] Chr3:128481006 [GRCh38]
Chr3:128199849 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.-114C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001150852] Chr3:128492967 [GRCh38]
Chr3:128211810 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.568G>A (p.Ala190Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000811315] Chr3:128486030 [GRCh38]
Chr3:128204873 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1360C>T (p.Pro454Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000821260] Chr3:128481102 [GRCh38]
Chr3:128199945 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.227A>G (p.His76Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000796147] Chr3:128486805 [GRCh38]
Chr3:128205648 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1242C>G (p.Phe414Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000812900] Chr3:128481220 [GRCh38]
Chr3:128200063 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1415C>T (p.Pro472Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000822451] Chr3:128481047 [GRCh38]
Chr3:128199890 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.380A>G (p.His127Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000822466] Chr3:128486218 [GRCh38]
Chr3:128205061 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1238G>A (p.Cys413Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000794437] Chr3:128481224 [GRCh38]
Chr3:128200067 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1053T>C (p.Asn351=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000876131] Chr3:128481909 [GRCh38]
Chr3:128200752 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.567G>T (p.Gly189=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000803770] Chr3:128486031 [GRCh38]
Chr3:128204874 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.186C>T (p.Asn62=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000981407] Chr3:128486846 [GRCh38]
Chr3:128205689 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1090G>A (p.Ala364Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000811801]|not provided [RCV003442102] Chr3:128481872 [GRCh38]
Chr3:128200715 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.688C>T (p.Arg230Cys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000823547] Chr3:128485910 [GRCh38]
Chr3:128204753 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.327G>A (p.Ala109=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000814277] Chr3:128486271 [GRCh38]
Chr3:128205114 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1144-1_1146del deletion not provided [RCV000788910] Chr3:128481316..128481319 [GRCh38]
Chr3:128200159..128200162 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.371C>T (p.Thr124Met) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001067794]|Myelodysplastic syndrome [RCV002292380] Chr3:128486227 [GRCh38]
Chr3:128205070 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1077A>T (p.Leu359Phe) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001043644] Chr3:128481885 [GRCh38]
Chr3:128200728 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*352C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001146469] Chr3:128480667 [GRCh38]
Chr3:128199510 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.101T>G (p.Met34Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001147498] Chr3:128486931 [GRCh38]
Chr3:128205774 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1356C>T (p.Ile452=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000870641] Chr3:128481106 [GRCh38]
Chr3:128199949 [GRCh37]
Chr3:3q21.3		 likely benign
NC_000003.12:g.(?_128480999)_(128912627_?)del deletion Deafness-lymphedema-leukemia syndrome [RCV001032428] Chr3:128199842..128631470 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000987323]|Deafness-lymphedema-leukemia syndrome [RCV001542202] Chr3:128481917 [GRCh38]
Chr3:128200760 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.187C>G (p.Pro63Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001066938] Chr3:128486845 [GRCh38]
Chr3:128205688 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.831del (p.Phe278fs) deletion Deafness-lymphedema-leukemia syndrome [RCV000987325] Chr3:128485767 [GRCh38]
Chr3:128204610 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.680G>A (p.Ser227Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001210988] Chr3:128485918 [GRCh38]
Chr3:128204761 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.281G>T (p.Gly94Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001241973] Chr3:128486317 [GRCh38]
Chr3:128205160 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.239C>A (p.Thr80Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001236790] Chr3:128486359 [GRCh38]
Chr3:128205202 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.544T>C (p.Ser182Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001239132] Chr3:128486054 [GRCh38]
Chr3:128204897 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.553C>A (p.Pro185Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001222116] Chr3:128486045 [GRCh38]
Chr3:128204888 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.100A>T (p.Met34Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001224015] Chr3:128486932 [GRCh38]
Chr3:128205775 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.814G>C (p.Gly272Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001234339] Chr3:128485784 [GRCh38]
Chr3:128204627 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.248A>G (p.Gln83Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001223174] Chr3:128486350 [GRCh38]
Chr3:128205193 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.599G>C (p.Gly200Ala) single nucleotide variant Acute myeloid leukemia [RCV003462804]|Deafness-lymphedema-leukemia syndrome [RCV001237472]|GATA2-related condition [RCV003898232] Chr3:128485999 [GRCh38]
Chr3:128204842 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1433C>T (p.Ala478Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001224679] Chr3:128481029 [GRCh38]
Chr3:128199872 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.172C>T (p.Pro58Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001226807] Chr3:128486860 [GRCh38]
Chr3:128205703 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.779A>G (p.Tyr260Cys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001234723] Chr3:128485819 [GRCh38]
Chr3:128204662 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.619G>A (p.Asp207Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001209328] Chr3:128485979 [GRCh38]
Chr3:128204822 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.508C>A (p.Leu170Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001223309] Chr3:128486090 [GRCh38]
Chr3:128204933 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.341A>G (p.Asn114Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001239903] Chr3:128486257 [GRCh38]
Chr3:128205100 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1102C>G (p.Pro368Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001225480] Chr3:128481860 [GRCh38]
Chr3:128200703 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.798C>A (p.His266Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001226728] Chr3:128485800 [GRCh38]
Chr3:128204643 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.700G>A (p.Ala234Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001214942] Chr3:128485898 [GRCh38]
Chr3:128204741 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.611G>A (p.Arg204Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001204067] Chr3:128485987 [GRCh38]
Chr3:128204830 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.856G>C (p.Ala286Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001203272]|Monocytopenia with susceptibility to infections [RCV001267764] Chr3:128485742 [GRCh38]
Chr3:128204585 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.437G>T (p.Gly146Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001211637] Chr3:128486161 [GRCh38]
Chr3:128205004 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+565_1017+566del deletion Deafness-lymphedema-leukemia syndrome [RCV003777300]|not provided [RCV003318210] Chr3:128483294..128483295 [GRCh38]
Chr3:128202137..128202138 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.*1002G>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001150633] Chr3:128480017 [GRCh38]
Chr3:128198860 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.607G>C (p.Ala203Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001144643]|Deafness-lymphedema-leukemia syndrome [RCV002032365] Chr3:128485991 [GRCh38]
Chr3:128204834 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.989G>T (p.Arg330Leu) single nucleotide variant not provided [RCV001545425] Chr3:128483888 [GRCh38]
Chr3:128202731 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.872-182C>G single nucleotide variant not provided [RCV001565546] Chr3:128484187 [GRCh38]
Chr3:128203030 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1143+193A>G single nucleotide variant not provided [RCV001574834] Chr3:128481626 [GRCh38]
Chr3:128200469 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.872-158C>A single nucleotide variant not provided [RCV001671295]|not specified [RCV003401582] Chr3:128484163 [GRCh38]
Chr3:128203006 [GRCh37]
Chr3:3q21.3		 benign
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541927] Chr3:128170000..128230000 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1163T>C (p.Met388Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001541949] Chr3:128481299 [GRCh38]
Chr3:128200142 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1341C>A (p.Ser447Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001541963] Chr3:128481121 [GRCh38]
Chr3:128199964 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.58C>T (p.Gln20Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542101] Chr3:128486974 [GRCh38]
Chr3:128205817 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.941_951dup (p.Ala318fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542104] Chr3:128483925..128483926 [GRCh38]
Chr3:128202768..128202769 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.982C>T (p.Gln328Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542108] Chr3:128483895 [GRCh38]
Chr3:128202738 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.989_992dup (p.Leu332fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542109] Chr3:128483884..128483885 [GRCh38]
Chr3:128202727..128202728 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1017+2T>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542114] Chr3:128483858 [GRCh38]
Chr3:128202701 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1082G>A (p.Arg361His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542116] Chr3:128481880 [GRCh38]
Chr3:128200723 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1113C>G (p.Asn371Lys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542125]|Deafness-lymphedema-leukemia syndrome [RCV001859359] Chr3:128481849 [GRCh38]
Chr3:128200692 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.161C>A (p.Ser54Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542131] Chr3:128486871 [GRCh38]
Chr3:128205714 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.207_208del (p.Val70fs) microsatellite Deafness-lymphedema-leukemia syndrome [RCV001542134] Chr3:128486824..128486825 [GRCh38]
Chr3:128205667..128205668 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.256del (p.Arg86fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542138] Chr3:128486342 [GRCh38]
Chr3:128205185 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.306del (p.Ala103fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542141] Chr3:128486292 [GRCh38]
Chr3:128205135 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.317_318del (p.Ser106fs) microsatellite Deafness-lymphedema-leukemia syndrome [RCV001542143] Chr3:128486280..128486281 [GRCh38]
Chr3:128205123..128205124 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.351C>G (p.Thr117=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542145] Chr3:128486247 [GRCh38]
Chr3:128205090 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1018-10_1037del deletion Deafness-lymphedema-leukemia syndrome [RCV001542148] Chr3:128481925..128481954 [GRCh38]
Chr3:128200768..128200797 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1018-1G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542152] Chr3:128481945 [GRCh38]
Chr3:128200788 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1019del (p.Ser340fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542155] Chr3:128481943 [GRCh38]
Chr3:128200786 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1021_1024del (p.Ala341fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542158] Chr3:128481938..128481941 [GRCh38]
Chr3:128200781..128200784 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1129T>G (p.Tyr377Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542165]|not provided [RCV001821863] Chr3:128481833 [GRCh38]
Chr3:128200676 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.404dup (p.Gly136fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542177] Chr3:128486193..128486194 [GRCh38]
Chr3:128205036..128205037 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.414_417del (p.Ser139fs) microsatellite Deafness-lymphedema-leukemia syndrome [RCV001542178] Chr3:128486181..128486184 [GRCh38]
Chr3:128205024..128205027 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1025_1026insGCCG (p.Arg343fs) insertion Deafness-lymphedema-leukemia syndrome [RCV001542194] Chr3:128481936..128481937 [GRCh38]
Chr3:128200779..128200780 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1020_1029dup (p.Arg344fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542196] Chr3:128481932..128481933 [GRCh38]
Chr3:128200775..128200776 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1031_1049del (p.Arg344fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542197] Chr3:128481913..128481931 [GRCh38]
Chr3:128200756..128200774 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1054T>G (p.Cys352Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542206] Chr3:128481908 [GRCh38]
Chr3:128200751 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.710del (p.Gly237fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542210] Chr3:128485888 [GRCh38]
Chr3:128204731 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.817_818del (p.Gly273fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542215] Chr3:128485780..128485781 [GRCh38]
Chr3:128204623..128204624 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.869C>A (p.Ser290Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542218] Chr3:128485729 [GRCh38]
Chr3:128204572 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.915_916del (p.Trp306fs) microsatellite Deafness-lymphedema-leukemia syndrome [RCV001542220]|not provided [RCV003136102] Chr3:128483961..128483962 [GRCh38]
Chr3:128202804..128202805 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1061C>G (p.Thr354Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542227] Chr3:128481901 [GRCh38]
Chr3:128200744 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.872-95C>G single nucleotide variant not provided [RCV001591499] Chr3:128484100 [GRCh38]
Chr3:128202943 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1018-194C>T single nucleotide variant not provided [RCV001557957] Chr3:128482138 [GRCh38]
Chr3:128200981 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.229+38C>T single nucleotide variant not provided [RCV001566073] Chr3:128486765 [GRCh38]
Chr3:128205608 [GRCh37]
Chr3:3q21.3		 likely benign
NC_000003.11:g.(?_126707437)_(130720194_?)dup duplication Deafness-lymphedema-leukemia syndrome [RCV003113323]|not provided [RCV003107782] Chr3:126707437..130720194 [GRCh37]
Chr3:3q21.3-22.1		 uncertain significance|no classifications from unflagged records
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541921] Chr3:127889037..128565901 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.144C>T (p.Phe48=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000896506] Chr3:128486888 [GRCh38]
Chr3:128205731 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.165G>A (p.Gln55=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000932350] Chr3:128486867 [GRCh38]
Chr3:128205710 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.49C>T (p.Leu17=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000861840]|not specified [RCV001816931] Chr3:128486983 [GRCh38]
Chr3:128205826 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1368G>A (p.Pro456=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000952335] Chr3:128481094 [GRCh38]
Chr3:128199937 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.147C>T (p.Phe49=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001439104] Chr3:128486885 [GRCh38]
Chr3:128205728 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1018-10G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000872560] Chr3:128481954 [GRCh38]
Chr3:128200797 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+2T>A single nucleotide variant not provided [RCV000984813] Chr3:128483858 [GRCh38]
Chr3:128202701 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1018-2A>C single nucleotide variant not provided [RCV000984815] Chr3:128481946 [GRCh38]
Chr3:128200789 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1021del (p.Ala341fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542157]|not provided [RCV000984816] Chr3:128481941 [GRCh38]
Chr3:128200784 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001062521]|not provided [RCV000984817] Chr3:128481935 [GRCh38]
Chr3:128200778 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.1036_1056dup (p.Gly346_Cys352dup) duplication not provided [RCV000984818] Chr3:128481905..128481906 [GRCh38]
Chr3:128200748..128200749 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1052A>G (p.Asn351Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542204]|not provided [RCV000984819] Chr3:128481910 [GRCh38]
Chr3:128200753 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NM_032638.5(GATA2):c.1128C>A (p.Tyr376Ter) single nucleotide variant not provided [RCV000984823] Chr3:128481834 [GRCh38]
Chr3:128200677 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.1143+13C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002067564]|not provided [RCV000984824] Chr3:128481806 [GRCh38]
Chr3:128200649 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1144-1G>C single nucleotide variant not provided [RCV000984825] Chr3:128481319 [GRCh38]
Chr3:128200162 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1159_1160dup (p.Met388fs) duplication not provided [RCV000984826] Chr3:128481301..128481302 [GRCh38]
Chr3:128200144..128200145 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1186C>G (p.Arg396Gly) single nucleotide variant not provided [RCV000984828] Chr3:128481276 [GRCh38]
Chr3:128200119 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.599del (p.Gly200fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001386685]|Deafness-lymphedema-leukemia syndrome [RCV001542188]|not provided [RCV000984841] Chr3:128485999 [GRCh38]
Chr3:128204842 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.610C>T (p.Arg204Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542190]|not provided [RCV000984843] Chr3:128485988 [GRCh38]
Chr3:128204831 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1017+526C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000870623] Chr3:128483334 [GRCh38]
Chr3:128202177 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.48G>T (p.Val16=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001474644] Chr3:128486984 [GRCh38]
Chr3:128205827 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1194G>C (p.Arg398=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001427910] Chr3:128481268 [GRCh38]
Chr3:128200111 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.162G>T (p.Ser54=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001430596] Chr3:128486870 [GRCh38]
Chr3:128205713 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.903A>G (p.Thr301=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001405103] Chr3:128483974 [GRCh38]
Chr3:128202817 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.753C>T (p.Ser251=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000917618]|GATA2-related condition [RCV003895577] Chr3:128485845 [GRCh38]
Chr3:128204688 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.477C>T (p.Leu159=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002068701] Chr3:128486121 [GRCh38]
Chr3:128204964 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.960C>T (p.Gly320=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV000952643] Chr3:128483917 [GRCh38]
Chr3:128202760 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1434C>T (p.Ala478=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001406938] Chr3:128481028 [GRCh38]
Chr3:128199871 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.740C>T (p.Pro247Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001231670] Chr3:128485858 [GRCh38]
Chr3:128204701 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*379C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001146468] Chr3:128480640 [GRCh38]
Chr3:128199483 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.446G>C (p.Gly149Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001247754] Chr3:128486152 [GRCh38]
Chr3:128204995 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1411C>T (p.His471Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001208090] Chr3:128481051 [GRCh38]
Chr3:128199894 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1148A>G (p.Asn383Ser) single nucleotide variant Acute myeloid leukemia [RCV003462726]|Deafness-lymphedema-leukemia syndrome [RCV001214569] Chr3:128481314 [GRCh38]
Chr3:128200157 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.815G>C (p.Gly272Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001208390] Chr3:128485783 [GRCh38]
Chr3:128204626 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.223G>A (p.Ala75Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001051087] Chr3:128486809 [GRCh38]
Chr3:128205652 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1261A>T (p.Met421Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001216918] Chr3:128481201 [GRCh38]
Chr3:128200044 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.872-1G>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001036959] Chr3:128484006 [GRCh38]
Chr3:128202849 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.775G>A (p.Asp259Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001240488] Chr3:128485823 [GRCh38]
Chr3:128204666 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.308C>T (p.Ala103Val) single nucleotide variant Acute myeloid leukemia [RCV001256200]|Deafness-lymphedema-leukemia syndrome [RCV001240621] Chr3:128486290 [GRCh38]
Chr3:128205133 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.179A>G (p.Tyr60Cys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001243944] Chr3:128486853 [GRCh38]
Chr3:128205696 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.257G>A (p.Arg86His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001241041] Chr3:128486341 [GRCh38]
Chr3:128205184 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.732C>G (p.His244Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001206349] Chr3:128485866 [GRCh38]
Chr3:128204709 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*1522A>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001149131] Chr3:128479497 [GRCh38]
Chr3:128198340 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.106C>G (p.Pro36Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001221270] Chr3:128486926 [GRCh38]
Chr3:128205769 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1166_1181delinsCATG (p.Lys389_Gln394delinsThrTrp) indel Deafness-lymphedema-leukemia syndrome [RCV001241681] Chr3:128481281..128481296 [GRCh38]
Chr3:128200124..128200139 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.399C>T (p.Gly133=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001438552] Chr3:128486199 [GRCh38]
Chr3:128205042 [GRCh37]
Chr3:3q21.3		 likely benign
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
NM_032638.5(GATA2):c.609C>A (p.Ala203=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257025] Chr3:128485989 [GRCh38]
Chr3:128204832 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.71C>T (p.Ser24Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001065596] Chr3:128486961 [GRCh38]
Chr3:128205804 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*118C>T single nucleotide variant not provided [RCV001598506] Chr3:128480901 [GRCh38]
Chr3:128199744 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.140T>G (p.Val47Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001065532] Chr3:128486892 [GRCh38]
Chr3:128205735 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.190G>T (p.Ala64Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001068495] Chr3:128486842 [GRCh38]
Chr3:128205685 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.39C>A (p.His13Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001049039] Chr3:128486993 [GRCh38]
Chr3:128205836 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.871+8C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001071003] Chr3:128485719 [GRCh38]
Chr3:128204562 [GRCh37]
Chr3:3q21.3		 uncertain significance
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541922] Chr3:128181289..128205514 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.229+13_229+14insCGCGCGTCTCCTACAGCCCCGCGCACGGTGAGCACTGGGCGCC insertion Deafness-lymphedema-leukemia syndrome [RCV001541923] Chr3:128486789..128486790 [GRCh38]
Chr3:128205632..128205633 [GRCh37]
Chr3:3q21.3		 uncertain significance
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541924] Chr3:120247726..128319968 [GRCh37]
Chr3:3q13.33-21.3		 pathogenic
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541925] Chr3:127966423..136853218 [GRCh37]
Chr3:3q21.3-22.3		 pathogenic
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541928] Chr3:128202028..128202733 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1168A>G (p.Lys390Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001541950] Chr3:128481294 [GRCh38]
Chr3:128200137 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1187G>T (p.Arg396Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001541954]|not provided [RCV003225189] Chr3:128481275 [GRCh38]
Chr3:128200118 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NC_000003.11:g.(?_128199862)_(128205874_?)del deletion Deafness-lymphedema-leukemia syndrome [RCV001541964] Chr3:128199862..128205874 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.17_18del (p.Glu6fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542100] Chr3:128487014..128487015 [GRCh38]
Chr3:128205857..128205858 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.944T>C (p.Leu315Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542103] Chr3:128483933 [GRCh38]
Chr3:128202776 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.952G>A (p.Ala318Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542105] Chr3:128483925 [GRCh38]
Chr3:128202768 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.956_962del (p.Cys319fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542106] Chr3:128483915..128483921 [GRCh38]
Chr3:128202758..128202764 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.968dup (p.His323fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542107] Chr3:128483908..128483909 [GRCh38]
Chr3:128202751..128202752 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.257_258del (p.Arg86fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542137] Chr3:128486340..128486341 [GRCh38]
Chr3:128205183..128205184 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.302del (p.Gly101fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542139] Chr3:128486296 [GRCh38]
Chr3:128205139 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.303del (p.Ala103fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542140] Chr3:128486295 [GRCh38]
Chr3:128205138 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1128C>G (p.Tyr376Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542164] Chr3:128481834 [GRCh38]
Chr3:128200677 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1132A>T (p.Lys378Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542166] Chr3:128481830 [GRCh38]
Chr3:128200673 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1126_1133dup (p.Lys378fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542167] Chr3:128481828..128481829 [GRCh38]
Chr3:128200671..128200672 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1143+5G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542170] Chr3:128481814 [GRCh38]
Chr3:128200657 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1143+5G>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542171] Chr3:128481814 [GRCh38]
Chr3:128200657 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1162A>G (p.Met388Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542175]|Deafness-lymphedema-leukemia syndrome [RCV003771663] Chr3:128481300 [GRCh38]
Chr3:128200143 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NM_032638.5(GATA2):c.627_630dup (p.Val211fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542191] Chr3:128485967..128485968 [GRCh38]
Chr3:128204810..128204811 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1023del (p.Ala342fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542192] Chr3:128481939 [GRCh38]
Chr3:128200782 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1021GCC[1] (p.Ala342del) microsatellite Deafness-lymphedema-leukemia syndrome [RCV001542193] Chr3:128481936..128481938 [GRCh38]
Chr3:128200779..128200781 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1023_1026dup (p.Arg344fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542195] Chr3:128481935..128481936 [GRCh38]
Chr3:128200778..128200779 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.793_802del (p.Phe265fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542213] Chr3:128485796..128485805 [GRCh38]
Chr3:128204639..128204648 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.892dup (p.Cys298fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542219] Chr3:128483984..128483985 [GRCh38]
Chr3:128202827..128202828 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1066_1095del (p.Thr356_Asn365del) deletion Deafness-lymphedema-leukemia syndrome [RCV001542230] Chr3:128481867..128481896 [GRCh38]
Chr3:128200710..128200739 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1076T>C (p.Leu359Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542233] Chr3:128481886 [GRCh38]
Chr3:128200729 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1021GCC[3] (p.Ala342dup) microsatellite Deafness-lymphedema-leukemia syndrome [RCV001071635] Chr3:128481935..128481936 [GRCh38]
Chr3:128200778..128200779 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.871+342C>T single nucleotide variant not provided [RCV001672266] Chr3:128485385 [GRCh38]
Chr3:128204228 [GRCh37]
Chr3:3q21.3		 benign
NM_032638.5(GATA2):c.872-187T>C single nucleotide variant not provided [RCV001680468] Chr3:128484192 [GRCh38]
Chr3:128203035 [GRCh37]
Chr3:3q21.3		 benign
NM_032638.5(GATA2):c.1017+215C>T single nucleotide variant not provided [RCV001566786] Chr3:128483645 [GRCh38]
Chr3:128202488 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1289C>T (p.Ala430Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001046047]|not provided [RCV002254329] Chr3:128481173 [GRCh38]
Chr3:128200016 [GRCh37]
Chr3:3q21.3		 pathogenic|uncertain significance
NM_032638.5(GATA2):c.*199C>G single nucleotide variant not provided [RCV001545715] Chr3:128480820 [GRCh38]
Chr3:128199663 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.524C>T (p.Pro175Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001235552] Chr3:128486074 [GRCh38]
Chr3:128204917 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.248A>C (p.Gln83Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001220210] Chr3:128486350 [GRCh38]
Chr3:128205193 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.442A>G (p.Ser148Gly) single nucleotide variant Acute myeloid leukemia [RCV003461428]|Deafness-lymphedema-leukemia syndrome [RCV001035467]|not provided [RCV003233929] Chr3:128486156 [GRCh38]
Chr3:128204999 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.23C>T (p.Pro8Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001060401] Chr3:128487009 [GRCh38]
Chr3:128205852 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.188C>G (p.Pro63Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001050258] Chr3:128486844 [GRCh38]
Chr3:128205687 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*988T>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001150634] Chr3:128480031 [GRCh38]
Chr3:128198874 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.539A>G (p.Glu180Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001219935] Chr3:128486059 [GRCh38]
Chr3:128204902 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.424C>G (p.Pro142Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001237060] Chr3:128486174 [GRCh38]
Chr3:128205017 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.-214G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001150853] Chr3:128493067 [GRCh38]
Chr3:128211910 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.67G>T (p.Asp23Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001231837] Chr3:128486965 [GRCh38]
Chr3:128205808 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.431C>G (p.Ala144Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001054689] Chr3:128486167 [GRCh38]
Chr3:128205010 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.950A>G (p.Asn317Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001234505]|Deafness-lymphedema-leukemia syndrome [RCV001541969] Chr3:128483927 [GRCh38]
Chr3:128202770 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.592G>C (p.Ala198Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001214957] Chr3:128486006 [GRCh38]
Chr3:128204849 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.502T>G (p.Ser168Ala) single nucleotide variant Acute myeloid leukemia [RCV003462613]|Deafness-lymphedema-leukemia syndrome [RCV001069702] Chr3:128486096 [GRCh38]
Chr3:128204939 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1280C>G (p.Pro427Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001052008] Chr3:128481182 [GRCh38]
Chr3:128200025 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.216C>G (p.Tyr72Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001059063] Chr3:128486816 [GRCh38]
Chr3:128205659 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1286G>A (p.Ser429Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001059275] Chr3:128481176 [GRCh38]
Chr3:128200019 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.536A>G (p.Lys179Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001213428] Chr3:128486062 [GRCh38]
Chr3:128204905 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1094A>G (p.Asn365Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001204327] Chr3:128481868 [GRCh38]
Chr3:128200711 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.45C>A (p.Ala15=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001215379] Chr3:128486987 [GRCh38]
Chr3:128205830 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.147C>A (p.Phe49Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001059515] Chr3:128486885 [GRCh38]
Chr3:128205728 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*581G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001144541] Chr3:128480438 [GRCh38]
Chr3:128199281 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.487G>A (p.Ala163Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001246182] Chr3:128486111 [GRCh38]
Chr3:128204954 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.843G>T (p.Lys281Asn) single nucleotide variant Acute myeloid leukemia [RCV003462678]|Deafness-lymphedema-leukemia syndrome [RCV001202774] Chr3:128485755 [GRCh38]
Chr3:128204598 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1193G>A (p.Arg398Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001207183]|Deafness-lymphedema-leukemia syndrome [RCV001541955] Chr3:128481269 [GRCh38]
Chr3:128200112 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic|uncertain significance
NM_032638.5(GATA2):c.64C>T (p.Pro22Ser) single nucleotide variant Acute myeloid leukemia [RCV003461440]|Deafness-lymphedema-leukemia syndrome [RCV001038352] Chr3:128486968 [GRCh38]
Chr3:128205811 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1024dup (p.Ala342fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001214332] Chr3:128481937..128481938 [GRCh38]
Chr3:128200780..128200781 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.331CAC[2] (p.His113del) microsatellite Deafness-lymphedema-leukemia syndrome [RCV001064124]|not specified [RCV001819790] Chr3:128486259..128486261 [GRCh38]
Chr3:128205102..128205104 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.999C>T (p.Ile333=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001144642]|Deafness-lymphedema-leukemia syndrome [RCV001505331] Chr3:128483878 [GRCh38]
Chr3:128202721 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.186C>G (p.Asn62Lys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001049661]|GATA2-related condition [RCV003405250]|not provided [RCV003328647] Chr3:128486846 [GRCh38]
Chr3:128205689 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.326C>T (p.Ala109Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001035443] Chr3:128486272 [GRCh38]
Chr3:128205115 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1114G>A (p.Ala372Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001049958]|Deafness-lymphedema-leukemia syndrome [RCV001542127] Chr3:128481848 [GRCh38]
Chr3:128200691 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NM_032638.5(GATA2):c.788G>C (p.Gly263Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001050062] Chr3:128485810 [GRCh38]
Chr3:128204653 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1205A>G (p.Asn402Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001040634]|Monocytopenia with susceptibility to infections [RCV003141957] Chr3:128481257 [GRCh38]
Chr3:128200100 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.905C>T (p.Ala302Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001229124]|GATA2-related condition [RCV003414026] Chr3:128483972 [GRCh38]
Chr3:128202815 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.365C>G (p.Ser122Cys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001055397] Chr3:128486233 [GRCh38]
Chr3:128205076 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*457G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001146466] Chr3:128480562 [GRCh38]
Chr3:128199405 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.398G>T (p.Gly133Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001146584] Chr3:128486200 [GRCh38]
Chr3:128205043 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.*1146A>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001150632] Chr3:128479873 [GRCh38]
Chr3:128198716 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1376T>C (p.Ile459Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001213010] Chr3:128481086 [GRCh38]
Chr3:128199929 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1427T>C (p.Val476Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001202107] Chr3:128481035 [GRCh38]
Chr3:128199878 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.776A>G (p.Asp259Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001051938] Chr3:128485822 [GRCh38]
Chr3:128204665 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.742A>T (p.Thr248Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001233499] Chr3:128485856 [GRCh38]
Chr3:128204699 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.-42C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001147501] Chr3:128487073 [GRCh38]
Chr3:128205916 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.778_780del (p.Tyr260del) deletion Deafness-lymphedema-leukemia syndrome [RCV001214932]|not provided [RCV001786451] Chr3:128485818..128485820 [GRCh38]
Chr3:128204661..128204663 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.800C>G (p.Pro267Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001211707] Chr3:128485798 [GRCh38]
Chr3:128204641 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.170A>C (p.Asn57Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001062656] Chr3:128486862 [GRCh38]
Chr3:128205705 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1318G>A (p.Val440Met) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001034955] Chr3:128481144 [GRCh38]
Chr3:128199987 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.871+4A>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001053451] Chr3:128485723 [GRCh38]
Chr3:128204566 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.11:g.(128203154_128202733)_(128202028_128201205)del deletion Myelodysplastic syndrome [RCV001252666]   likely pathogenic
NM_032638.5(GATA2):c.1144-5T>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001295264] Chr3:128481323 [GRCh38]
Chr3:128200166 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.177C>G (p.Tyr59Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542132]|not provided [RCV001311611] Chr3:128486855 [GRCh38]
Chr3:128205698 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.659G>T (p.Ser220Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001262176] Chr3:128485939 [GRCh38]
Chr3:128204782 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.653C>T (p.Thr218Met) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001908181] Chr3:128485945 [GRCh38]
Chr3:128204788 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.536A>C (p.Lys179Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001312497] Chr3:128486062 [GRCh38]
Chr3:128204905 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.65C>T (p.Pro22Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001303784] Chr3:128486967 [GRCh38]
Chr3:128205810 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1363A>C (p.Thr455Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001350362] Chr3:128481099 [GRCh38]
Chr3:128199942 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1361C>A (p.Pro454His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001350483] Chr3:128481101 [GRCh38]
Chr3:128199944 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.448G>A (p.Gly150Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001320236] Chr3:128486150 [GRCh38]
Chr3:128204993 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.11:g.(?_128202693)_(128205884_?)dup duplication Lymphedema, primary, with myelodysplasia [RCV001325673] Chr3:128202693..128205884 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1006A>G (p.Lys336Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001327165] Chr3:128483871 [GRCh38]
Chr3:128202714 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.479C>A (p.Thr160Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001327864] Chr3:128486119 [GRCh38]
Chr3:128204962 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.674G>T (p.Ser225Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001340003] Chr3:128485924 [GRCh38]
Chr3:128204767 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1222A>G (p.Lys408Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001298581] Chr3:128481240 [GRCh38]
Chr3:128200083 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.11:g.(?_128199862)_(128205874_?)dup duplication Deafness-lymphedema-leukemia syndrome [RCV001301317] Chr3:128199862..128205874 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.533C>A (p.Pro178His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001305742] Chr3:128486065 [GRCh38]
Chr3:128204908 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1042_1092dup (p.Cys348_Ala364dup) duplication Deafness-lymphedema-leukemia syndrome [RCV001316672] Chr3:128481869..128481870 [GRCh38]
Chr3:128200712..128200713 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.393TGGAGGCCC[1] (p.132GGP[1]) microsatellite Deafness-lymphedema-leukemia syndrome [RCV001302428]|not provided [RCV001290368] Chr3:128486188..128486196 [GRCh38]
Chr3:128205031..128205039 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1009C>G (p.Arg337Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001342280] Chr3:128483868 [GRCh38]
Chr3:128202711 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.937C>T (p.His313Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001301867]|Deafness-lymphedema-leukemia syndrome [RCV001542223] Chr3:128483940 [GRCh38]
Chr3:128202783 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NM_032638.5(GATA2):c.1430C>T (p.Thr477Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001338351] Chr3:128481032 [GRCh38]
Chr3:128199875 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.456C>G (p.Ser152Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001303791] Chr3:128486142 [GRCh38]
Chr3:128204985 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.221C>T (p.Pro74Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001352606] Chr3:128486811 [GRCh38]
Chr3:128205654 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.11:g.(?_128198104)_(128205221_?)dup duplication Deafness-lymphedema-leukemia syndrome [RCV001341195] Chr3:128198104..128205221 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.336C>G (p.His112Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001295019] Chr3:128486262 [GRCh38]
Chr3:128205105 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1267G>A (p.Glu423Lys) single nucleotide variant Acute myeloid leukemia [RCV003469531]|Deafness-lymphedema-leukemia syndrome [RCV001306418] Chr3:128481195 [GRCh38]
Chr3:128200038 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.142T>C (p.Phe48Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001341349] Chr3:128486890 [GRCh38]
Chr3:128205733 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.856G>A (p.Ala286Thr) single nucleotide variant Acute myeloid leukemia [RCV003469517]|Deafness-lymphedema-leukemia syndrome [RCV001297125] Chr3:128485742 [GRCh38]
Chr3:128204585 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.763_764delinsTT (p.Ala255Leu) indel Deafness-lymphedema-leukemia syndrome [RCV001372195] Chr3:128485834..128485835 [GRCh38]
Chr3:128204677..128204678 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1246G>A (p.Glu416Lys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001362421] Chr3:128481216 [GRCh38]
Chr3:128200059 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1307A>T (p.His436Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001361490] Chr3:128481155 [GRCh38]
Chr3:128199998 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.67G>A (p.Asp23Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001367548] Chr3:128486965 [GRCh38]
Chr3:128205808 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.535A>T (p.Lys179Ter) single nucleotide variant multilineage dysplasia [RCV001281374] Chr3:128486063 [GRCh38]
Chr3:128204906 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1436T>C (p.Met479Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001295780] Chr3:128481026 [GRCh38]
Chr3:128199869 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.57G>T (p.Ala19=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001414401]|GATA2-related condition [RCV003900430] Chr3:128486975 [GRCh38]
Chr3:128205818 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.81G>A (p.Pro27=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001359132] Chr3:128486951 [GRCh38]
Chr3:128205794 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1062G>A (p.Thr354=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001396569] Chr3:128481900 [GRCh38]
Chr3:128200743 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1032A>G (p.Arg344=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001392185] Chr3:128481930 [GRCh38]
Chr3:128200773 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+512C>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001414790] Chr3:128483348 [GRCh38]
Chr3:128202191 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.465A>G (p.Ser155=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001421569] Chr3:128486133 [GRCh38]
Chr3:128204976 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.207C>G (p.Arg69=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001433914] Chr3:128486825 [GRCh38]
Chr3:128205668 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.474C>T (p.Ser158=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001397238] Chr3:128486124 [GRCh38]
Chr3:128204967 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.677G>A (p.Gly226Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001371474] Chr3:128485921 [GRCh38]
Chr3:128204764 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.23C>G (p.Pro8Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001294996] Chr3:128487009 [GRCh38]
Chr3:128205852 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.688C>A (p.Arg230Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001362608] Chr3:128485910 [GRCh38]
Chr3:128204753 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1165AAG[1] (p.Lys390del) microsatellite Deafness-lymphedema-leukemia syndrome [RCV001323853]|not provided [RCV003481070] Chr3:128481292..128481294 [GRCh38]
Chr3:128200135..128200137 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1399_1401del (p.Phe467del) deletion Deafness-lymphedema-leukemia syndrome [RCV001300014] Chr3:128481061..128481063 [GRCh38]
Chr3:128199904..128199906 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.49C>A (p.Leu17Met) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001364936] Chr3:128486983 [GRCh38]
Chr3:128205826 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.764C>T (p.Ala255Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001303568] Chr3:128485834 [GRCh38]
Chr3:128204677 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.657G>T (p.Glu219Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001360724]|not provided [RCV002462953] Chr3:128485941 [GRCh38]
Chr3:128204784 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.553C>T (p.Pro185Ser) single nucleotide variant Acute myeloid leukemia [RCV001294042] Chr3:128486045 [GRCh38]
Chr3:128204888 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.302G>C (p.Gly101Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001345918] Chr3:128486296 [GRCh38]
Chr3:128205139 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.537A>G (p.Lys179=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001342304] Chr3:128486061 [GRCh38]
Chr3:128204904 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.93C>G (p.His31Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001365270] Chr3:128486939 [GRCh38]
Chr3:128205782 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.197C>T (p.Ala66Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001297429] Chr3:128486835 [GRCh38]
Chr3:128205678 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.206_207delinsTT (p.Arg69Leu) indel Deafness-lymphedema-leukemia syndrome [RCV001320763] Chr3:128486825..128486826 [GRCh38]
Chr3:128205668..128205669 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1178T>C (p.Ile393Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001347483]|not provided [RCV001762590] Chr3:128481284 [GRCh38]
Chr3:128200127 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.100A>G (p.Met34Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001361720] Chr3:128486932 [GRCh38]
Chr3:128205775 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.557G>A (p.Ser186Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001372707] Chr3:128486041 [GRCh38]
Chr3:128204884 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.698T>C (p.Leu233Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001345338]|not provided [RCV002224073] Chr3:128485900 [GRCh38]
Chr3:128204743 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.497C>G (p.Ser166Cys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001345353] Chr3:128486101 [GRCh38]
Chr3:128204944 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.353T>C (p.Val118Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001347743] Chr3:128486245 [GRCh38]
Chr3:128205088 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.44C>A (p.Ala15Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001347791] Chr3:128486988 [GRCh38]
Chr3:128205831 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.196G>T (p.Ala66Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001298571] Chr3:128486836 [GRCh38]
Chr3:128205679 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.460A>G (p.Ser154Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001318054] Chr3:128486138 [GRCh38]
Chr3:128204981 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.433G>A (p.Gly145Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001373062] Chr3:128486165 [GRCh38]
Chr3:128205008 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.660C>T (p.Ser220=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001295563] Chr3:128485938 [GRCh38]
Chr3:128204781 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.764C>G (p.Ala255Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001299588] Chr3:128485834 [GRCh38]
Chr3:128204677 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.479C>G (p.Thr160Ser) single nucleotide variant Acute myeloid leukemia [RCV002486502]|Deafness-lymphedema-leukemia syndrome [RCV001359860] Chr3:128486119 [GRCh38]
Chr3:128204962 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.810C>G (p.Phe270Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001370820] Chr3:128485788 [GRCh38]
Chr3:128204631 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.322G>C (p.Ala108Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001309224] Chr3:128486276 [GRCh38]
Chr3:128205119 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.129C>G (p.Asp43Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001364457] Chr3:128486903 [GRCh38]
Chr3:128205746 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1069A>G (p.Thr357Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001364569]|Deafness-lymphedema-leukemia syndrome [RCV001542231] Chr3:128481893 [GRCh38]
Chr3:128200736 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NM_032638.5(GATA2):c.298G>C (p.Gly100Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001299880] Chr3:128486300 [GRCh38]
Chr3:128205143 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.64C>G (p.Pro22Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001326780] Chr3:128486968 [GRCh38]
Chr3:128205811 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.25C>T (p.Arg9Cys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001360087] Chr3:128487007 [GRCh38]
Chr3:128205850 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1021G>T (p.Ala341Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001324894] Chr3:128481941 [GRCh38]
Chr3:128200784 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.301G>T (p.Gly101Cys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001371215] Chr3:128486297 [GRCh38]
Chr3:128205140 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.75C>G (p.His25Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001370440] Chr3:128486957 [GRCh38]
Chr3:128205800 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.545C>T (p.Ser182Phe) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001367171] Chr3:128486053 [GRCh38]
Chr3:128204896 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.689G>T (p.Arg230Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001327157] Chr3:128485909 [GRCh38]
Chr3:128204752 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1223A>G (p.Lys408Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001368616] Chr3:128481239 [GRCh38]
Chr3:128200082 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.262C>T (p.His88Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001367360] Chr3:128486336 [GRCh38]
Chr3:128205179 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1040C>T (p.Thr347Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001367369] Chr3:128481922 [GRCh38]
Chr3:128200765 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.11:g.(?_128198104)_(128205874_?)dup duplication Deafness-lymphedema-leukemia syndrome [RCV001360824] Chr3:128198104..128205874 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1217A>G (p.Lys406Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001365545] Chr3:128481245 [GRCh38]
Chr3:128200088 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.92A>T (p.His31Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001365643] Chr3:128486940 [GRCh38]
Chr3:128205783 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.709G>A (p.Gly237Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001365646] Chr3:128485889 [GRCh38]
Chr3:128204732 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.210C>T (p.Val70=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001395104] Chr3:128486822 [GRCh38]
Chr3:128205665 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.297C>G (p.Asp99Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001338445] Chr3:128486301 [GRCh38]
Chr3:128205144 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1067C>T (p.Thr356Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001308216] Chr3:128481895 [GRCh38]
Chr3:128200738 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1019C>T (p.Ser340Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001365726]|Inborn genetic diseases [RCV002548572] Chr3:128481943 [GRCh38]
Chr3:128200786 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.857C>G (p.Ala286Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001339547] Chr3:128485741 [GRCh38]
Chr3:128204584 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1337T>A (p.Phe446Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001339673] Chr3:128481125 [GRCh38]
Chr3:128199968 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.678C>T (p.Gly226=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001501674] Chr3:128485920 [GRCh38]
Chr3:128204763 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1062G>C (p.Thr354=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001450425] Chr3:128481900 [GRCh38]
Chr3:128200743 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1071C>G (p.Thr357=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001458297] Chr3:128481891 [GRCh38]
Chr3:128200734 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.744C>T (p.Thr248=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001492487] Chr3:128485854 [GRCh38]
Chr3:128204697 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.162G>A (p.Ser54=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001465127] Chr3:128486870 [GRCh38]
Chr3:128205713 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.582C>T (p.Ala194=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001467502]|not provided [RCV003426121] Chr3:128486016 [GRCh38]
Chr3:128204859 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1281C>G (p.Pro427=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001473989] Chr3:128481181 [GRCh38]
Chr3:128200024 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.573G>T (p.Ala191=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001479258] Chr3:128486025 [GRCh38]
Chr3:128204868 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.723T>G (p.Ala241=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001459519] Chr3:128485875 [GRCh38]
Chr3:128204718 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.942C>T (p.Tyr314=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001492803]|not specified [RCV001820194] Chr3:128483935 [GRCh38]
Chr3:128202778 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1161C>A (p.Thr387=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001480441]|not specified [RCV003151330] Chr3:128481301 [GRCh38]
Chr3:128200144 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.872-8C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001469506] Chr3:128484013 [GRCh38]
Chr3:128202856 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.231C>T (p.Ala77=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001439704] Chr3:128486367 [GRCh38]
Chr3:128205210 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.714C>G (p.Thr238=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001426439] Chr3:128485884 [GRCh38]
Chr3:128204727 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.168C>G (p.Gly56=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001423556] Chr3:128486864 [GRCh38]
Chr3:128205707 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.198G>C (p.Ala66=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001442632] Chr3:128486834 [GRCh38]
Chr3:128205677 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+582G>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001493141] Chr3:128483278 [GRCh38]
Chr3:128202121 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.996C>T (p.Leu332=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001481250] Chr3:128483881 [GRCh38]
Chr3:128202724 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.405A>G (p.Gly135=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001484597] Chr3:128486193 [GRCh38]
Chr3:128205036 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1272G>A (p.Lys424=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001406279] Chr3:128481190 [GRCh38]
Chr3:128200033 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1266G>A (p.Gln422=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001466470] Chr3:128481196 [GRCh38]
Chr3:128200039 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.909C>G (p.Thr303=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001470904] Chr3:128483968 [GRCh38]
Chr3:128202811 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1018-5C>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001501174] Chr3:128481949 [GRCh38]
Chr3:128200792 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.963C>G (p.Leu321=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001416317] Chr3:128483914 [GRCh38]
Chr3:128202757 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.564G>A (p.Thr188=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001481800] Chr3:128486034 [GRCh38]
Chr3:128204877 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.839dup (p.Pro280_Lys281insTer) duplication Deafness-lymphedema-leukemia syndrome [RCV001389075] Chr3:128485758..128485759 [GRCh38]
Chr3:128204601..128204602 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.476_479dup (p.Pro161fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001389077] Chr3:128486118..128486119 [GRCh38]
Chr3:128204961..128204962 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.872-7C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001446077] Chr3:128484012 [GRCh38]
Chr3:128202855 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+525C>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001439548] Chr3:128483335 [GRCh38]
Chr3:128202178 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1212C>T (p.Ser404=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001407015] Chr3:128481250 [GRCh38]
Chr3:128200093 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.612A>G (p.Arg204=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001409871]|not specified [RCV001820104] Chr3:128485986 [GRCh38]
Chr3:128204829 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.78C>T (p.His26=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001428917] Chr3:128486954 [GRCh38]
Chr3:128205797 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1050A>C (p.Ala350=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001446842] Chr3:128481912 [GRCh38]
Chr3:128200755 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+512C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001423284]|not specified [RCV001820117] Chr3:128483348 [GRCh38]
Chr3:128202191 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.429G>A (p.Gly143=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001439872] Chr3:128486169 [GRCh38]
Chr3:128205012 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.447G>C (p.Gly149=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001407511] Chr3:128486151 [GRCh38]
Chr3:128204994 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.915C>G (p.Leu305=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001446744] Chr3:128483962 [GRCh38]
Chr3:128202805 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.75C>T (p.His25=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001441786] Chr3:128486957 [GRCh38]
Chr3:128205800 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.240C>T (p.Thr80=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001444393] Chr3:128486358 [GRCh38]
Chr3:128205201 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.108C>T (p.Pro36=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001425070] Chr3:128486924 [GRCh38]
Chr3:128205767 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.978T>C (p.Asn326=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001407688]|GATA2-related condition [RCV003946071]|Hereditary cancer-predisposing syndrome [RCV002259116] Chr3:128483899 [GRCh38]
Chr3:128202742 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.342C>T (p.Asn114=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001410434] Chr3:128486256 [GRCh38]
Chr3:128205099 [GRCh37]
Chr3:3q21.3		 likely benign
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541926] Chr3:123000000..129700000 [GRCh37]
Chr3:3q21.1-22.1		 pathogenic
NM_032638.5(GATA2):c.684C>A (p.Pro228=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001403667] Chr3:128485914 [GRCh38]
Chr3:128204757 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1123C>G (p.Leu375Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001541948] Chr3:128481839 [GRCh38]
Chr3:128200682 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1200_1216dup (p.Lys406fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001541957] Chr3:128481245..128481246 [GRCh38]
Chr3:128200088..128200089 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1322_1325dup (p.His442fs) duplication Acute myeloid leukemia [RCV002466683]|Deafness-lymphedema-leukemia syndrome [RCV001541961]|not provided [RCV002508316] Chr3:128481136..128481137 [GRCh38]
Chr3:128199979..128199980 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NM_032638.5(GATA2):c.1017+532T>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001541971]|Deafness-lymphedema-leukemia syndrome [RCV002568255] Chr3:128483328 [GRCh38]
Chr3:128202171 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+693dup duplication Deafness-lymphedema-leukemia syndrome [RCV001541973]|Deafness-lymphedema-leukemia syndrome [RCV002568940] Chr3:128483161..128483162 [GRCh38]
Chr3:128202004..128202005 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1021G>C (p.Ala341Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001541974] Chr3:128481941 [GRCh38]
Chr3:128200784 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+2T>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542115] Chr3:128483858 [GRCh38]
Chr3:128202701 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1110C>G (p.Cys370Trp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542123] Chr3:128481852 [GRCh38]
Chr3:128200695 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1117_1131del (p.Cys373_Tyr377del) deletion Deafness-lymphedema-leukemia syndrome [RCV001542128] Chr3:128481831..128481845 [GRCh38]
Chr3:128200674..128200688 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.130G>T (p.Glu44Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542130] Chr3:128486902 [GRCh38]
Chr3:128205745 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.206_208delinsT (p.Arg69fs) indel Deafness-lymphedema-leukemia syndrome [RCV001542133] Chr3:128486824..128486826 [GRCh38]
Chr3:128205667..128205669 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.318dup (p.Ala107fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542144] Chr3:128486279..128486280 [GRCh38]
Chr3:128205122..128205123 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1018-11_1027del deletion Deafness-lymphedema-leukemia syndrome [RCV001542147] Chr3:128481935..128481955 [GRCh38]
Chr3:128200778..128200798 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1018-3_1031del deletion Deafness-lymphedema-leukemia syndrome [RCV001542149] Chr3:128481931..128481947 [GRCh38]
Chr3:128200774..128200790 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1018-2A>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542151] Chr3:128481946 [GRCh38]
Chr3:128200789 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1021_1031del (p.Ala341fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542159] Chr3:128481931..128481941 [GRCh38]
Chr3:128200774..128200784 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1023dup (p.Ala342fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542160] Chr3:128481938..128481939 [GRCh38]
Chr3:128200781..128200782 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1124del (p.Leu375fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542163] Chr3:128481838 [GRCh38]
Chr3:128200681 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1143+2T>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542169]|Inborn genetic diseases [RCV004039253] Chr3:128481817 [GRCh38]
Chr3:128200660 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_032638.5(GATA2):c.1154C>A (p.Pro385Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542172] Chr3:128481308 [GRCh38]
Chr3:128200151 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.417dup (p.Val140fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542180] Chr3:128486180..128486181 [GRCh38]
Chr3:128205023..128205024 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.437del (p.Gly146fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542182]|not provided [RCV001821864] Chr3:128486161 [GRCh38]
Chr3:128205004 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.538G>T (p.Glu180Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542183] Chr3:128486060 [GRCh38]
Chr3:128204903 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1035_1036insTCTGGCC (p.Gly346fs) insertion Deafness-lymphedema-leukemia syndrome [RCV001542198] Chr3:128481926..128481927 [GRCh38]
Chr3:128200769..128200770 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1035_1038dup (p.Thr347fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542199] Chr3:128481923..128481924 [GRCh38]
Chr3:128200766..128200767 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1041del (p.Cys348fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542200] Chr3:128481921 [GRCh38]
Chr3:128200764 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1046G>T (p.Cys349Phe) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001542201] Chr3:128481916 [GRCh38]
Chr3:128200759 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1054del (p.Cys352fs) deletion Deafness-lymphedema-leukemia syndrome [RCV001542207] Chr3:128481908 [GRCh38]
Chr3:128200751 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.769_778dup (p.Tyr260fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001542212] Chr3:128485819..128485820 [GRCh38]
Chr3:128204662..128204663 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.932_937delinsG (p.Thr311fs) indel Deafness-lymphedema-leukemia syndrome [RCV001542222] Chr3:128483940..128483945 [GRCh38]
Chr3:128202783..128202788 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1066ACC[2] (p.Thr358del) microsatellite Deafness-lymphedema-leukemia syndrome [RCV001542229] Chr3:128481888..128481890 [GRCh38]
Chr3:128200731..128200733 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1158G>T (p.Leu386=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001440180] Chr3:128481304 [GRCh38]
Chr3:128200147 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1296C>T (p.Ala432=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001403823] Chr3:128481166 [GRCh38]
Chr3:128200009 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.201G>A (p.Arg67=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001410473] Chr3:128486831 [GRCh38]
Chr3:128205674 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.267G>A (p.Leu89=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001445097] Chr3:128486331 [GRCh38]
Chr3:128205174 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1254A>G (p.Ser418=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001401630] Chr3:128481208 [GRCh38]
Chr3:128200051 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.513C>T (p.Phe171=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001435260] Chr3:128486085 [GRCh38]
Chr3:128204928 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.437dup (p.Gly147fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001381968] Chr3:128486160..128486161 [GRCh38]
Chr3:128205003..128205004 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.492C>G (p.Ala164=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001411675] Chr3:128486106 [GRCh38]
Chr3:128204949 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.444C>T (p.Ser148=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001409059] Chr3:128486154 [GRCh38]
Chr3:128204997 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1018-226T>G single nucleotide variant not provided [RCV001690606] Chr3:128482170 [GRCh38]
Chr3:128201013 [GRCh37]
Chr3:3q21.3		 benign
NM_032638.5(GATA2):c.297C>T (p.Asp99=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001478934] Chr3:128486301 [GRCh38]
Chr3:128205144 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+9G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001465298] Chr3:128483851 [GRCh38]
Chr3:128202694 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.933C>A (p.Thr311=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001458587] Chr3:128483944 [GRCh38]
Chr3:128202787 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.300G>A (p.Gly100=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001458608] Chr3:128486298 [GRCh38]
Chr3:128205141 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1089C>T (p.Asn363=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001476140] Chr3:128481873 [GRCh38]
Chr3:128200716 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1119T>C (p.Cys373=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001451537] Chr3:128481843 [GRCh38]
Chr3:128200686 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.471C>T (p.Ala157=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001466027] Chr3:128486127 [GRCh38]
Chr3:128204970 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.723T>C (p.Ala241=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001455936] Chr3:128485875 [GRCh38]
Chr3:128204718 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.414C>T (p.Leu138=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001497522] Chr3:128486184 [GRCh38]
Chr3:128205027 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1143+128C>T single nucleotide variant not provided [RCV001616879]|not specified [RCV003487532] Chr3:128481691 [GRCh38]
Chr3:128200534 [GRCh37]
Chr3:3q21.3		 benign
NM_032638.5(GATA2):c.1101C>T (p.Asp367=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001504588] Chr3:128481861 [GRCh38]
Chr3:128200704 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.229+7A>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001473384] Chr3:128486796 [GRCh38]
Chr3:128205639 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1170G>A (p.Lys390=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001403269]|Hereditary cancer-predisposing syndrome [RCV002255659] Chr3:128481292 [GRCh38]
Chr3:128200135 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.1357C>T (p.Leu453=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001457647] Chr3:128481105 [GRCh38]
Chr3:128199948 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.501C>T (p.Gly167=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001482293] Chr3:128486097 [GRCh38]
Chr3:128204940 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1107C>T (p.Val369=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001406425] Chr3:128481855 [GRCh38]
Chr3:128200698 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.258C>T (p.Arg86=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001457391] Chr3:128486340 [GRCh38]
Chr3:128205183 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+538G>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001461318] Chr3:128483322 [GRCh38]
Chr3:128202165 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.498T>C (p.Ser166=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001505411] Chr3:128486100 [GRCh38]
Chr3:128204943 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.174C>G (p.Pro58=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001398499] Chr3:128486858 [GRCh38]
Chr3:128205701 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1041C>T (p.Thr347=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001418608] Chr3:128481921 [GRCh38]
Chr3:128200764 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1350A>T (p.Gly450=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001468135] Chr3:128481112 [GRCh38]
Chr3:128199955 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1122C>T (p.Gly374=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001394037] Chr3:128481840 [GRCh38]
Chr3:128200683 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.495C>T (p.His165=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001438929]|not provided [RCV003319473] Chr3:128486103 [GRCh38]
Chr3:128204946 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.480C>A (p.Thr160=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001450568] Chr3:128486118 [GRCh38]
Chr3:128204961 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1154C>T (p.Pro385Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003771982]|not provided [RCV001754791] Chr3:128481308 [GRCh38]
Chr3:128200151 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.14_15inv (p.Pro5Arg) inversion not provided [RCV001754903] Chr3:128487017..128487018 [GRCh38]
Chr3:128205860..128205861 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.682C>T (p.Pro228Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001868784]|not provided [RCV003238714] Chr3:128485916 [GRCh38]
Chr3:128204759 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1197G>T (p.Lys399Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257024] Chr3:128481265 [GRCh38]
Chr3:128200108 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1160_1165del (p.Thr387_Met388del) deletion not provided [RCV001774785] Chr3:128481297..128481302 [GRCh38]
Chr3:128200140..128200145 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.35C>A (p.Ala12Glu) single nucleotide variant not provided [RCV003238718] Chr3:128486997 [GRCh38]
Chr3:128205840 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.695G>C (p.Gly232Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002540578]|not provided [RCV001773201] Chr3:128485903 [GRCh38]
Chr3:128204746 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.962_963insAGT (p.Leu321_Tyr322insVal) insertion not provided [RCV001766026] Chr3:128483914..128483915 [GRCh38]
Chr3:128202757..128202758 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1429A>G (p.Thr477Ala) single nucleotide variant not provided [RCV001766031] Chr3:128481033 [GRCh38]
Chr3:128199876 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1161_1172del (p.Met388_Glu391del) deletion Deafness-lymphedema-leukemia syndrome [RCV001885067]|not provided [RCV001766046] Chr3:128481290..128481301 [GRCh38]
Chr3:128200133..128200144 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.697C>G (p.Leu233Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002540576]|not provided [RCV001766040] Chr3:128485901 [GRCh38]
Chr3:128204744 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+530C>T single nucleotide variant not specified [RCV001819285] Chr3:128483330 [GRCh38]
Chr3:128202173 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.-99A>G single nucleotide variant not specified [RCV001819364] Chr3:128492952 [GRCh38]
Chr3:128211795 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.-314G>A single nucleotide variant not specified [RCV001819407] Chr3:128493167 [GRCh38]
Chr3:128212010 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1018-5C>G single nucleotide variant not specified [RCV001819574] Chr3:128481949 [GRCh38]
Chr3:128200792 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.-179G>C single nucleotide variant not specified [RCV001817254] Chr3:128493032 [GRCh38]
Chr3:128211875 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.346_351del (p.Trp116_Thr117del) deletion not specified [RCV001817978] Chr3:128486247..128486252 [GRCh38]
Chr3:128205090..128205095 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.995_996insG (p.Ile333fs) insertion not provided [RCV001817981] Chr3:128483881..128483882 [GRCh38]
Chr3:128202724..128202725 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.-120C>G single nucleotide variant not specified [RCV001819545] Chr3:128492973 [GRCh38]
Chr3:128211816 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.774C>G (p.His258Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003772308]|Hereditary cancer-predisposing syndrome [RCV002256845]|not specified [RCV001820293] Chr3:128485824 [GRCh38]
Chr3:128204667 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1143+11C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002074340]|not specified [RCV001820537] Chr3:128481808 [GRCh38]
Chr3:128200651 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.-328del deletion not specified [RCV001820591] Chr3:128493181 [GRCh38]
Chr3:128212024 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1034C>A (p.Ala345Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001968380] Chr3:128481928 [GRCh38]
Chr3:128200771 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.164A>C (p.Gln55Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002045126] Chr3:128486868 [GRCh38]
Chr3:128205711 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1381C>T (p.Pro461Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002042085] Chr3:128481081 [GRCh38]
Chr3:128199924 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.527C>T (p.Thr176Met) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001929252] Chr3:128486071 [GRCh38]
Chr3:128204914 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1171_1182del (p.Glu391_Gln394del) deletion Deafness-lymphedema-leukemia syndrome [RCV001988169] Chr3:128481280..128481291 [GRCh38]
Chr3:128200123..128200134 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.997A>G (p.Ile333Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001870941] Chr3:128483880 [GRCh38]
Chr3:128202723 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.574T>C (p.Ser192Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001896295] Chr3:128486024 [GRCh38]
Chr3:128204867 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1360C>A (p.Pro454Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001970506] Chr3:128481102 [GRCh38]
Chr3:128199945 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.91C>T (p.His31Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002040544] Chr3:128486941 [GRCh38]
Chr3:128205784 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.856G>T (p.Ala286Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001894290] Chr3:128485742 [GRCh38]
Chr3:128204585 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.541G>C (p.Val181Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001872263] Chr3:128486057 [GRCh38]
Chr3:128204900 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.41C>G (p.Pro14Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002040715] Chr3:128486991 [GRCh38]
Chr3:128205834 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.65C>A (p.Pro22His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001947287] Chr3:128486967 [GRCh38]
Chr3:128205810 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.34G>A (p.Ala12Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002041560] Chr3:128486998 [GRCh38]
Chr3:128205841 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.304A>G (p.Lys102Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001985505] Chr3:128486294 [GRCh38]
Chr3:128205137 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.663G>A (p.Met221Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001985772] Chr3:128485935 [GRCh38]
Chr3:128204778 [GRCh37]
Chr3:3q21.3		 uncertain significance
GRCh37/hg19 3q21.3(chr3:128163252-128660960)x3 copy number gain not provided [RCV001827975] Chr3:128163252..128660960 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.880del (p.Glu294fs) deletion not provided [RCV001843972] Chr3:128483997 [GRCh38]
Chr3:128202840 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.132G>T (p.Glu44Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001983541] Chr3:128486900 [GRCh38]
Chr3:128205743 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.319G>A (p.Ala107Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001984470]|not provided [RCV003442967] Chr3:128486279 [GRCh38]
Chr3:128205122 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1292C>T (p.Ala431Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002021577] Chr3:128481170 [GRCh38]
Chr3:128200013 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1210T>C (p.Ser404Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001967418] Chr3:128481252 [GRCh38]
Chr3:128200095 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.299G>A (p.Gly100Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002007959] Chr3:128486299 [GRCh38]
Chr3:128205142 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.286C>T (p.Pro96Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002021512] Chr3:128486312 [GRCh38]
Chr3:128205155 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1096G>A (p.Gly366Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002043357] Chr3:128481866 [GRCh38]
Chr3:128200709 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.168C>T (p.Gly56=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002039600] Chr3:128486864 [GRCh38]
Chr3:128205707 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.620A>G (p.Asp207Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001947511] Chr3:128485978 [GRCh38]
Chr3:128204821 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1373C>T (p.Pro458Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002007032] Chr3:128481089 [GRCh38]
Chr3:128199932 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.774C>A (p.His258Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001970404] Chr3:128485824 [GRCh38]
Chr3:128204667 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.517T>C (p.Phe173Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001984177] Chr3:128486081 [GRCh38]
Chr3:128204924 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.400C>A (p.Pro134Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001947436] Chr3:128486198 [GRCh38]
Chr3:128205041 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.78C>G (p.His26Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001946340] Chr3:128486954 [GRCh38]
Chr3:128205797 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.542T>A (p.Val181Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001966206] Chr3:128486056 [GRCh38]
Chr3:128204899 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.847C>T (p.Arg283Cys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002023474] Chr3:128485751 [GRCh38]
Chr3:128204594 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.563C>T (p.Thr188Met) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002006861] Chr3:128486035 [GRCh38]
Chr3:128204878 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.751_752dup (p.Tyr252fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001941808] Chr3:128485845..128485846 [GRCh38]
Chr3:128204688..128204689 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.587C>T (p.Ser196Phe) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002001166] Chr3:128486011 [GRCh38]
Chr3:128204854 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.223G>T (p.Ala75Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002019367] Chr3:128486809 [GRCh38]
Chr3:128205652 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.803_804insGGGCCACCCCGG (p.His266_Gly269dup) insertion Deafness-lymphedema-leukemia syndrome [RCV001940310] Chr3:128485794..128485795 [GRCh38]
Chr3:128204637..128204638 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1010G>A (p.Arg337Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001962004] Chr3:128483867 [GRCh38]
Chr3:128202710 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1279C>G (p.Pro427Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001886605] Chr3:128481183 [GRCh38]
Chr3:128200026 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.802G>C (p.Gly268Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001924187] Chr3:128485796 [GRCh38]
Chr3:128204639 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.484A>G (p.Thr162Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001962856]|not provided [RCV002260714] Chr3:128486114 [GRCh38]
Chr3:128204957 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.878G>A (p.Arg293Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001991390] Chr3:128483999 [GRCh38]
Chr3:128202842 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1199T>C (p.Met400Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002036835] Chr3:128481263 [GRCh38]
Chr3:128200106 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1242C>T (p.Phe414=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002031408] Chr3:128481220 [GRCh38]
Chr3:128200063 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1019C>A (p.Ser340Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001888226] Chr3:128481943 [GRCh38]
Chr3:128200786 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1017+704C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001941363] Chr3:128483156 [GRCh38]
Chr3:128201999 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.171C>G (p.Asn57Lys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001940129]|not provided [RCV003426247] Chr3:128486861 [GRCh38]
Chr3:128205704 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.778T>C (p.Tyr260His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002030278] Chr3:128485820 [GRCh38]
Chr3:128204663 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.11:g.(?_120365818)_(133465047_?)del deletion Alkaptonuria [RCV002035459] Chr3:120365818..133465047 [GRCh37]
Chr3:3q13.33-22.1		 pathogenic
NM_032638.5(GATA2):c.1403G>A (p.Gly468Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001939718] Chr3:128481059 [GRCh38]
Chr3:128199902 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.782_783delinsCT (p.Ser261Thr) indel Deafness-lymphedema-leukemia syndrome [RCV001982551] Chr3:128485815..128485816 [GRCh38]
Chr3:128204658..128204659 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1143+20G>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001941656] Chr3:128481799 [GRCh38]
Chr3:128200642 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1423A>G (p.Met475Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002001055] Chr3:128481039 [GRCh38]
Chr3:128199882 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.134T>C (p.Val45Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002037461] Chr3:128486898 [GRCh38]
Chr3:128205741 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.566G>A (p.Gly189Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001939782] Chr3:128486032 [GRCh38]
Chr3:128204875 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.31A>G (p.Met11Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001886544] Chr3:128487001 [GRCh38]
Chr3:128205844 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.842A>G (p.Lys281Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002037545] Chr3:128485756 [GRCh38]
Chr3:128204599 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1355T>C (p.Ile452Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002011514] Chr3:128481107 [GRCh38]
Chr3:128199950 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.335A>G (p.His112Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001899107] Chr3:128486263 [GRCh38]
Chr3:128205106 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.968A>G (p.His323Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002010410] Chr3:128483909 [GRCh38]
Chr3:128202752 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.632T>C (p.Val211Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001880313] Chr3:128485966 [GRCh38]
Chr3:128204809 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.706A>T (p.Met236Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001867355] Chr3:128485892 [GRCh38]
Chr3:128204735 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.607G>T (p.Ala203Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001991199]|Inborn genetic diseases [RCV002573530] Chr3:128485991 [GRCh38]
Chr3:128204834 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.377T>G (p.Leu126Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001903152] Chr3:128486221 [GRCh38]
Chr3:128205064 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.173C>A (p.Pro58His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001931352] Chr3:128486859 [GRCh38]
Chr3:128205702 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+512C>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002010643] Chr3:128483348 [GRCh38]
Chr3:128202191 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.902C>G (p.Thr301Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001991314] Chr3:128483975 [GRCh38]
Chr3:128202818 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.458G>A (p.Gly153Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002045899] Chr3:128486140 [GRCh38]
Chr3:128204983 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.109G>A (p.Ala37Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002009532] Chr3:128486923 [GRCh38]
Chr3:128205766 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.193C>T (p.His65Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001898355] Chr3:128486839 [GRCh38]
Chr3:128205682 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1198A>T (p.Met400Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001988968] Chr3:128481264 [GRCh38]
Chr3:128200107 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.527C>A (p.Thr176Lys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001992898] Chr3:128486071 [GRCh38]
Chr3:128204914 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.424C>T (p.Pro142Ser) single nucleotide variant Acute myeloid leukemia [RCV003470980]|Deafness-lymphedema-leukemia syndrome [RCV001880718] Chr3:128486174 [GRCh38]
Chr3:128205017 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.494A>G (p.His165Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001897189]|not provided [RCV003332355] Chr3:128486104 [GRCh38]
Chr3:128204947 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.928G>A (p.Gly310Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001933081] Chr3:128483949 [GRCh38]
Chr3:128202792 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.786C>T (p.Ser262=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001931810] Chr3:128485812 [GRCh38]
Chr3:128204655 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.379C>A (p.His127Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001880805] Chr3:128486219 [GRCh38]
Chr3:128205062 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.872-18C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001903475] Chr3:128484023 [GRCh38]
Chr3:128202866 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1415C>A (p.Pro472Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002029011] Chr3:128481047 [GRCh38]
Chr3:128199890 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.524C>A (p.Pro175His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002026565] Chr3:128486074 [GRCh38]
Chr3:128204917 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1396_1397del (p.Ser466fs) microsatellite Deafness-lymphedema-leukemia syndrome [RCV001955337] Chr3:128481065..128481066 [GRCh38]
Chr3:128199908..128199909 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.491C>T (p.Ala164Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001904223] Chr3:128486107 [GRCh38]
Chr3:128204950 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.7G>A (p.Val3Met) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002050478] Chr3:128487025 [GRCh38]
Chr3:128205868 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.739C>T (p.Pro247Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001883180] Chr3:128485859 [GRCh38]
Chr3:128204702 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1250T>C (p.Leu417Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001882173] Chr3:128481212 [GRCh38]
Chr3:128200055 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.319_320delinsAA (p.Ala107Asn) indel Deafness-lymphedema-leukemia syndrome [RCV002018822] Chr3:128486278..128486279 [GRCh38]
Chr3:128205121..128205122 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.105A>T (p.Glu35Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001878855] Chr3:128486927 [GRCh38]
Chr3:128205770 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.188C>T (p.Pro63Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001878882] Chr3:128486844 [GRCh38]
Chr3:128205687 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.331CAC[4] (p.His113dup) microsatellite Deafness-lymphedema-leukemia syndrome [RCV001904668] Chr3:128486258..128486259 [GRCh38]
Chr3:128205101..128205102 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.688C>G (p.Arg230Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002010613] Chr3:128485910 [GRCh38]
Chr3:128204753 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.88G>A (p.Ala30Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002018348] Chr3:128486944 [GRCh38]
Chr3:128205787 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1066A>G (p.Thr356Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002019522] Chr3:128481896 [GRCh38]
Chr3:128200739 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.303C>T (p.Gly101=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001903014] Chr3:128486295 [GRCh38]
Chr3:128205138 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.307G>A (p.Ala103Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001925300] Chr3:128486291 [GRCh38]
Chr3:128205134 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.466G>C (p.Val156Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001957026] Chr3:128486132 [GRCh38]
Chr3:128204975 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1102C>T (p.Pro368Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001961104] Chr3:128481860 [GRCh38]
Chr3:128200703 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.599G>T (p.Gly200Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001973309] Chr3:128485999 [GRCh38]
Chr3:128204842 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.515G>C (p.Gly172Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001915678]|not provided [RCV003327537] Chr3:128486083 [GRCh38]
Chr3:128204926 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.592G>T (p.Ala198Ser) single nucleotide variant Acute myeloid leukemia [RCV003464184]|Deafness-lymphedema-leukemia syndrome [RCV001937514] Chr3:128486006 [GRCh38]
Chr3:128204849 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.859C>T (p.Arg287Cys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001915973] Chr3:128485739 [GRCh38]
Chr3:128204582 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.732C>A (p.His244Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002009925] Chr3:128485866 [GRCh38]
Chr3:128204709 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.11:g.(?_127771396)_(128205874_?)del deletion Deafness-lymphedema-leukemia syndrome [RCV001879734]|not provided [RCV001902477] Chr3:127771396..128205874 [GRCh37]
Chr3:3q21.3		 pathogenic|uncertain significance|no classifications from unflagged records
NM_032638.5(GATA2):c.439G>A (p.Gly147Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001957274] Chr3:128486159 [GRCh38]
Chr3:128205002 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.830G>A (p.Ser277Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001904444] Chr3:128485768 [GRCh38]
Chr3:128204611 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.817G>A (p.Gly273Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001924351] Chr3:128485781 [GRCh38]
Chr3:128204624 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.590C>A (p.Ser197Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001916295] Chr3:128486008 [GRCh38]
Chr3:128204851 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.734C>G (p.Pro245Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001997010] Chr3:128485864 [GRCh38]
Chr3:128204707 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.467T>A (p.Val156Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002050381] Chr3:128486131 [GRCh38]
Chr3:128204974 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.818G>A (p.Gly273Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001978351] Chr3:128485780 [GRCh38]
Chr3:128204623 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.190G>A (p.Ala64Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001923577] Chr3:128486842 [GRCh38]
Chr3:128205685 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.812dup (p.Pro274fs) duplication Deafness-lymphedema-leukemia syndrome [RCV001960693] Chr3:128485785..128485786 [GRCh38]
Chr3:128204628..128204629 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1301C>T (p.Ala434Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002019374] Chr3:128481161 [GRCh38]
Chr3:128200004 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.499G>A (p.Gly167Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001884168] Chr3:128486099 [GRCh38]
Chr3:128204942 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.313C>T (p.Leu105Phe) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001997400] Chr3:128486285 [GRCh38]
Chr3:128205128 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1363A>G (p.Thr455Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001907361] Chr3:128481099 [GRCh38]
Chr3:128199942 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1295C>G (p.Ala432Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002031435] Chr3:128481167 [GRCh38]
Chr3:128200010 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.803G>A (p.Gly268Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001882282] Chr3:128485795 [GRCh38]
Chr3:128204638 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.4G>C (p.Glu2Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001940043] Chr3:128487028 [GRCh38]
Chr3:128205871 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+526C>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001877266] Chr3:128483334 [GRCh38]
Chr3:128202177 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.368A>G (p.Lys123Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001922671] Chr3:128486230 [GRCh38]
Chr3:128205073 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.379C>T (p.His127Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001921270] Chr3:128486219 [GRCh38]
Chr3:128205062 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.228C>T (p.His76=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001971993] Chr3:128486804 [GRCh38]
Chr3:128205647 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.235C>G (p.Leu79Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001952154] Chr3:128486363 [GRCh38]
Chr3:128205206 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.676G>A (p.Gly226Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV001866553] Chr3:128485922 [GRCh38]
Chr3:128204765 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.871+12T>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002112778] Chr3:128485715 [GRCh38]
Chr3:128204558 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.462C>T (p.Ser154=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002145046] Chr3:128486136 [GRCh38]
Chr3:128204979 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1020G>T (p.Ser340=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002209312] Chr3:128481942 [GRCh38]
Chr3:128200785 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.408C>T (p.Gly136=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002129191] Chr3:128486190 [GRCh38]
Chr3:128205033 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+645C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002207207] Chr3:128483215 [GRCh38]
Chr3:128202058 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.93C>T (p.His31=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002189126] Chr3:128486939 [GRCh38]
Chr3:128205782 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.384C>G (p.Pro128=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002129295] Chr3:128486214 [GRCh38]
Chr3:128205057 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.567G>A (p.Gly189=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002127110] Chr3:128486031 [GRCh38]
Chr3:128204874 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+536C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002112392] Chr3:128483324 [GRCh38]
Chr3:128202167 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.230-6C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002072439] Chr3:128486374 [GRCh38]
Chr3:128205217 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1116C>T (p.Ala372=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002109047] Chr3:128481846 [GRCh38]
Chr3:128200689 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.891C>T (p.Asn297=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002149214] Chr3:128483986 [GRCh38]
Chr3:128202829 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.156C>T (p.Leu52=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002167446] Chr3:128486876 [GRCh38]
Chr3:128205719 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1015C>T (p.Leu339=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002075059] Chr3:128483862 [GRCh38]
Chr3:128202705 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.519C>T (p.Phe173=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002186323] Chr3:128486079 [GRCh38]
Chr3:128204922 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.411A>G (p.Pro137=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002110279] Chr3:128486187 [GRCh38]
Chr3:128205030 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.230-16C>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002104954] Chr3:128486384 [GRCh38]
Chr3:128205227 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1050A>G (p.Ala350=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002207309] Chr3:128481912 [GRCh38]
Chr3:128200755 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1143+14G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002126937] Chr3:128481805 [GRCh38]
Chr3:128200648 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.504C>A (p.Ser168=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002107519] Chr3:128486094 [GRCh38]
Chr3:128204937 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.330C>G (p.Ala110=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002144730] Chr3:128486268 [GRCh38]
Chr3:128205111 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+20G>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002086688] Chr3:128483840 [GRCh38]
Chr3:128202683 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.543G>A (p.Val181=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002191139]|not provided [RCV003426359] Chr3:128486055 [GRCh38]
Chr3:128204898 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.309A>T (p.Ala103=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002128971] Chr3:128486289 [GRCh38]
Chr3:128205132 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.141C>T (p.Val47=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002089696] Chr3:128486891 [GRCh38]
Chr3:128205734 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1143+20del deletion Deafness-lymphedema-leukemia syndrome [RCV002146243] Chr3:128481799 [GRCh38]
Chr3:128200642 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+533C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002187408] Chr3:128483327 [GRCh38]
Chr3:128202170 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.229+8C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002169586] Chr3:128486795 [GRCh38]
Chr3:128205638 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1144-17C>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002206921] Chr3:128481335 [GRCh38]
Chr3:128200178 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+537A>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002169716] Chr3:128483323 [GRCh38]
Chr3:128202166 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.321C>T (p.Ala107=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002186006] Chr3:128486277 [GRCh38]
Chr3:128205120 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1143+19G>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002085217] Chr3:128481800 [GRCh38]
Chr3:128200643 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1413C>T (p.His471=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002124537] Chr3:128481049 [GRCh38]
Chr3:128199892 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.633C>G (p.Val211=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002112053]|not provided [RCV003154061] Chr3:128485965 [GRCh38]
Chr3:128204808 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_032638.5(GATA2):c.516C>T (p.Gly172=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002152448] Chr3:128486082 [GRCh38]
Chr3:128204925 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+540C>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002080834] Chr3:128483320 [GRCh38]
Chr3:128202163 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1023C>A (p.Ala341=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002076558] Chr3:128481939 [GRCh38]
Chr3:128200782 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.222C>A (p.Pro74=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002074838] Chr3:128486810 [GRCh38]
Chr3:128205653 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.229+13C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002096299] Chr3:128486790 [GRCh38]
Chr3:128205633 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1143+18C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002080955] Chr3:128481801 [GRCh38]
Chr3:128200644 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1383C>T (p.Pro461=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002112580] Chr3:128481079 [GRCh38]
Chr3:128199922 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.72A>G (p.Ser24=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002209980] Chr3:128486960 [GRCh38]
Chr3:128205803 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.872-24_872-20dup duplication Deafness-lymphedema-leukemia syndrome [RCV002111541] Chr3:128484024..128484025 [GRCh38]
Chr3:128202867..128202868 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1018-18G>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002132960] Chr3:128481962 [GRCh38]
Chr3:128200805 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1062G>T (p.Thr354=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002071468] Chr3:128481900 [GRCh38]
Chr3:128200743 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1143+20G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002081014] Chr3:128481799 [GRCh38]
Chr3:128200642 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.288C>T (p.Pro96=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002193302] Chr3:128486310 [GRCh38]
Chr3:128205153 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.678C>G (p.Gly226=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002077388] Chr3:128485920 [GRCh38]
Chr3:128204763 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1074C>T (p.Thr358=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002195911] Chr3:128481888 [GRCh38]
Chr3:128200731 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.230-8G>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002115473] Chr3:128486376 [GRCh38]
Chr3:128205219 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.138C>T (p.Asp46=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002173466] Chr3:128486894 [GRCh38]
Chr3:128205737 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.229+11G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002207780] Chr3:128486792 [GRCh38]
Chr3:128205635 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.360C>A (p.Pro120=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002134918] Chr3:128486238 [GRCh38]
Chr3:128205081 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+536C>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002191069] Chr3:128483324 [GRCh38]
Chr3:128202167 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.921G>A (p.Arg307=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002094630] Chr3:128483956 [GRCh38]
Chr3:128202799 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1230G>A (p.Gly410=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002115432] Chr3:128481232 [GRCh38]
Chr3:128200075 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.871+10G>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002133779] Chr3:128485717 [GRCh38]
Chr3:128204560 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.129C>T (p.Asp43=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002126323] Chr3:128486903 [GRCh38]
Chr3:128205746 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+513G>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002166026] Chr3:128483347 [GRCh38]
Chr3:128202190 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1008G>A (p.Lys336=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002091543] Chr3:128483869 [GRCh38]
Chr3:128202712 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1158G>C (p.Leu386=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002195595] Chr3:128481304 [GRCh38]
Chr3:128200147 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.24G>C (p.Pro8=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002094177] Chr3:128487008 [GRCh38]
Chr3:128205851 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1143+19G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002094333] Chr3:128481800 [GRCh38]
Chr3:128200643 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.432T>G (p.Ala144=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002215394] Chr3:128486166 [GRCh38]
Chr3:128205009 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.963C>T (p.Leu321=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002076553] Chr3:128483914 [GRCh38]
Chr3:128202757 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.230-17T>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002196752] Chr3:128486385 [GRCh38]
Chr3:128205228 [GRCh37]
Chr3:3q21.3		 benign
NM_032638.5(GATA2):c.943C>T (p.Leu315=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002149984] Chr3:128483934 [GRCh38]
Chr3:128202777 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1137G>A (p.Leu379=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002148727] Chr3:128481825 [GRCh38]
Chr3:128200668 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.229+15C>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002150798] Chr3:128486788 [GRCh38]
Chr3:128205631 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+592A>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002093833] Chr3:128483268 [GRCh38]
Chr3:128202111 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.268T>C (p.Leu90=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002092462] Chr3:128486330 [GRCh38]
Chr3:128205173 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1329C>A (p.Leu443=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002138656] Chr3:128481133 [GRCh38]
Chr3:128199976 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.871+17G>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002137171] Chr3:128485710 [GRCh38]
Chr3:128204553 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+14C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002121341] Chr3:128483846 [GRCh38]
Chr3:128202689 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.204G>A (p.Ala68=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002175430] Chr3:128486828 [GRCh38]
Chr3:128205671 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.229+19G>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002104107] Chr3:128486784 [GRCh38]
Chr3:128205627 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1140C>T (p.His380=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002137794] Chr3:128481822 [GRCh38]
Chr3:128200665 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1143+18C>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002138551] Chr3:128481801 [GRCh38]
Chr3:128200644 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.459G>A (p.Gly153=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002140306] Chr3:128486139 [GRCh38]
Chr3:128204982 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.735C>T (p.Pro245=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002182160] Chr3:128485863 [GRCh38]
Chr3:128204706 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+491del deletion Deafness-lymphedema-leukemia syndrome [RCV002176996] Chr3:128483369 [GRCh38]
Chr3:128202212 [GRCh37]
Chr3:3q21.3		 benign
NM_032638.5(GATA2):c.1143+17C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002137127] Chr3:128481802 [GRCh38]
Chr3:128200645 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1404C>T (p.Gly468=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002119746] Chr3:128481058 [GRCh38]
Chr3:128199901 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.229+15C>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002100172]|not provided [RCV003738139] Chr3:128486788 [GRCh38]
Chr3:128205631 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.855G>A (p.Lys285=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002163565] Chr3:128485743 [GRCh38]
Chr3:128204586 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.230-20CT[3] microsatellite Deafness-lymphedema-leukemia syndrome [RCV002137876] Chr3:128486379..128486382 [GRCh38]
Chr3:128205222..128205225 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.762G>T (p.Pro254=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002137892] Chr3:128485836 [GRCh38]
Chr3:128204679 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.819A>G (p.Gly273=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002163748] Chr3:128485779 [GRCh38]
Chr3:128204622 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.102G>C (p.Met34Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257023] Chr3:128486930 [GRCh38]
Chr3:128205773 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.750C>T (p.Pro250=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002201374] Chr3:128485848 [GRCh38]
Chr3:128204691 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.230-12C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002220186] Chr3:128486380 [GRCh38]
Chr3:128205223 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.230-14C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002099731] Chr3:128486382 [GRCh38]
Chr3:128205225 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.507C>T (p.His169=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002162940] Chr3:128486091 [GRCh38]
Chr3:128204934 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1143+15C>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002175572] Chr3:128481804 [GRCh38]
Chr3:128200647 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.477C>G (p.Leu159=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002220779] Chr3:128486121 [GRCh38]
Chr3:128204964 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.230-18C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002161466] Chr3:128486386 [GRCh38]
Chr3:128205229 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1027A>C (p.Arg343=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002100536] Chr3:128481935 [GRCh38]
Chr3:128200778 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.811C>T (p.Leu271=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002136168] Chr3:128485787 [GRCh38]
Chr3:128204630 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.816G>C (p.Gly272=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002084118] Chr3:128485782 [GRCh38]
Chr3:128204625 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.402T>C (p.Pro134=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002136280] Chr3:128486196 [GRCh38]
Chr3:128205039 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1018-19C>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002180349] Chr3:128481963 [GRCh38]
Chr3:128200806 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1155A>G (p.Pro385=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002142868] Chr3:128481307 [GRCh38]
Chr3:128200150 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1071C>A (p.Thr357=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002081387] Chr3:128481891 [GRCh38]
Chr3:128200734 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.111G>T (p.Ala37=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002161658] Chr3:128486921 [GRCh38]
Chr3:128205764 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1236G>A (p.Glu412=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002201742] Chr3:128481226 [GRCh38]
Chr3:128200069 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+704C>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002100680] Chr3:128483156 [GRCh38]
Chr3:128201999 [GRCh37]
Chr3:3q21.3		 benign
NM_032638.5(GATA2):c.1143+12C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002183585] Chr3:128481807 [GRCh38]
Chr3:128200650 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.872-11T>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002198545] Chr3:128484016 [GRCh38]
Chr3:128202859 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.123T>G (p.Pro41=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002120222] Chr3:128486909 [GRCh38]
Chr3:128205752 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.339C>T (p.His113=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002183869] Chr3:128486259 [GRCh38]
Chr3:128205102 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.510T>G (p.Leu170=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002157032] Chr3:128486088 [GRCh38]
Chr3:128204931 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1041C>A (p.Thr347=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002141734] Chr3:128481921 [GRCh38]
Chr3:128200764 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1144-14G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002082726] Chr3:128481332 [GRCh38]
Chr3:128200175 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.216C>T (p.Tyr72=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002180457] Chr3:128486816 [GRCh38]
Chr3:128205659 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.226C>G (p.His76Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003112085] Chr3:128486806 [GRCh38]
Chr3:128205649 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.202G>T (p.Ala68Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003121501] Chr3:128486830 [GRCh38]
Chr3:128205673 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.297C>A (p.Asp99Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002297111] Chr3:128486301 [GRCh38]
Chr3:128205144 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.569C>G (p.Ala190Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002297102] Chr3:128486029 [GRCh38]
Chr3:128204872 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.61C>T (p.His21Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003778701]|not provided [RCV003130990] Chr3:128486971 [GRCh38]
Chr3:128205814 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.872-13T>A single nucleotide variant not provided [RCV003154336] Chr3:128484018 [GRCh38]
Chr3:128202861 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.83G>A (p.Gly28Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002771497] Chr3:128486949 [GRCh38]
Chr3:128205792 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.20A>G (p.Gln7Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002303134] Chr3:128487012 [GRCh38]
Chr3:128205855 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.253T>C (p.Cys85Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002304296] Chr3:128486345 [GRCh38]
Chr3:128205188 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1241T>C (p.Phe414Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002303531] Chr3:128481221 [GRCh38]
Chr3:128200064 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.989G>A (p.Arg330Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002299359] Chr3:128483888 [GRCh38]
Chr3:128202731 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.495C>G (p.His165Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002301667] Chr3:128486103 [GRCh38]
Chr3:128204946 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1369A>T (p.Thr457Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002299617] Chr3:128481093 [GRCh38]
Chr3:128199936 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1280C>T (p.Pro427Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002301428] Chr3:128481182 [GRCh38]
Chr3:128200025 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.796C>T (p.His266Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002302123] Chr3:128485802 [GRCh38]
Chr3:128204645 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.673A>G (p.Ser225Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002301093] Chr3:128485925 [GRCh38]
Chr3:128204768 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.43G>A (p.Ala15Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002301827] Chr3:128486989 [GRCh38]
Chr3:128205832 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.740C>G (p.Pro247Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002296051] Chr3:128485858 [GRCh38]
Chr3:128204701 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.558C>T (p.Ser186=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002881026] Chr3:128486040 [GRCh38]
Chr3:128204883 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1294G>A (p.Ala432Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003012166] Chr3:128481168 [GRCh38]
Chr3:128200011 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.443G>A (p.Ser148Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002994328] Chr3:128486155 [GRCh38]
Chr3:128204998 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1306_1307insTCCA (p.His436fs) insertion Deafness-lymphedema-leukemia syndrome [RCV002838535] Chr3:128481155..128481156 [GRCh38]
Chr3:128199998..128199999 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1031_1087dup (p.Arg362_Asn363insArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArg) duplication Deafness-lymphedema-leukemia syndrome [RCV002838536] Chr3:128481874..128481875 [GRCh38]
Chr3:128200717..128200718 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1030A>G (p.Arg344Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003014659] Chr3:128481932 [GRCh38]
Chr3:128200775 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.835A>T (p.Thr279Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002615764] Chr3:128485763 [GRCh38]
Chr3:128204606 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1144-16T>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003075338] Chr3:128481334 [GRCh38]
Chr3:128200177 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.872-13T>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002971784] Chr3:128484018 [GRCh38]
Chr3:128202861 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.384dup (p.Ser129fs) duplication Deafness-lymphedema-leukemia syndrome [RCV003013144] Chr3:128486213..128486214 [GRCh38]
Chr3:128205056..128205057 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1109G>A (p.Cys370Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002816058] Chr3:128481853 [GRCh38]
Chr3:128200696 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.283T>G (p.Leu95Val) single nucleotide variant Acute myeloid leukemia [RCV003464652]|Deafness-lymphedema-leukemia syndrome [RCV003015669] Chr3:128486315 [GRCh38]
Chr3:128205158 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1026C>T (p.Ala342=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002771273] Chr3:128481936 [GRCh38]
Chr3:128200779 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.108C>A (p.Pro36=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003076983] Chr3:128486924 [GRCh38]
Chr3:128205767 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.967_969del (p.His323del) deletion Deafness-lymphedema-leukemia syndrome [RCV002861547] Chr3:128483908..128483910 [GRCh38]
Chr3:128202751..128202753 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.822G>T (p.Pro274=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002636225] Chr3:128485776 [GRCh38]
Chr3:128204619 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.326C>A (p.Ala109Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002756702] Chr3:128486272 [GRCh38]
Chr3:128205115 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1007A>T (p.Lys336Met) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002997035] Chr3:128483870 [GRCh38]
Chr3:128202713 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.711C>T (p.Gly237=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003034958] Chr3:128485887 [GRCh38]
Chr3:128204730 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+500C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002904988] Chr3:128483360 [GRCh38]
Chr3:128202203 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.342C>A (p.Asn114Lys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003015872] Chr3:128486256 [GRCh38]
Chr3:128205099 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1148dup (p.Asn383fs) duplication Deafness-lymphedema-leukemia syndrome [RCV002815853] Chr3:128481313..128481314 [GRCh38]
Chr3:128200156..128200157 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1017+535G>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002882037] Chr3:128483325 [GRCh38]
Chr3:128202168 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.313C>G (p.Leu105Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002993784] Chr3:128486285 [GRCh38]
Chr3:128205128 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.377T>A (p.Leu126Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002993806] Chr3:128486221 [GRCh38]
Chr3:128205064 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1185T>G (p.Thr395=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002858535] Chr3:128481277 [GRCh38]
Chr3:128200120 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.580G>T (p.Ala194Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002839162] Chr3:128486018 [GRCh38]
Chr3:128204861 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.600T>C (p.Gly200=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002863343] Chr3:128485998 [GRCh38]
Chr3:128204841 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.15C>A (p.Pro5=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002995786] Chr3:128487017 [GRCh38]
Chr3:128205860 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1331C>G (p.Pro444Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003011795] Chr3:128481131 [GRCh38]
Chr3:128199974 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.898G>A (p.Ala300Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003098955] Chr3:128483979 [GRCh38]
Chr3:128202822 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.802G>A (p.Gly268Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003778906]|not specified [RCV003151528] Chr3:128485796 [GRCh38]
Chr3:128204639 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.643G>A (p.Val215Met) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002775619] Chr3:128485955 [GRCh38]
Chr3:128204798 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.433G>C (p.Gly145Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002908150] Chr3:128486165 [GRCh38]
Chr3:128205008 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1144-12G>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002819675] Chr3:128481330 [GRCh38]
Chr3:128200173 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.949A>G (p.Asn317Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002838537] Chr3:128483928 [GRCh38]
Chr3:128202771 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.202del (p.Ala68fs) deletion Deafness-lymphedema-leukemia syndrome [RCV002838538] Chr3:128486830 [GRCh38]
Chr3:128205673 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.245G>T (p.Gly82Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002690873] Chr3:128486353 [GRCh38]
Chr3:128205196 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1421G>C (p.Ser474Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002696072] Chr3:128481041 [GRCh38]
Chr3:128199884 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.82G>A (p.Gly28Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002914211] Chr3:128486950 [GRCh38]
Chr3:128205793 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.931A>T (p.Thr311Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003002899] Chr3:128483946 [GRCh38]
Chr3:128202789 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+491dup duplication Deafness-lymphedema-leukemia syndrome [RCV002592830] Chr3:128483368..128483369 [GRCh38]
Chr3:128202211..128202212 [GRCh37]
Chr3:3q21.3		 benign
NM_032638.5(GATA2):c.1306C>T (p.His436Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003081371] Chr3:128481156 [GRCh38]
Chr3:128199999 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.444C>G (p.Ser148Arg) single nucleotide variant Inborn genetic diseases [RCV002739029] Chr3:128486154 [GRCh38]
Chr3:128204997 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+705G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002953630] Chr3:128483155 [GRCh38]
Chr3:128201998 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+517T>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002889905] Chr3:128483343 [GRCh38]
Chr3:128202186 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1018-18G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002640647] Chr3:128481962 [GRCh38]
Chr3:128200805 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1143+16C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002976425] Chr3:128481803 [GRCh38]
Chr3:128200646 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.229+10G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002846617] Chr3:128486793 [GRCh38]
Chr3:128205636 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.666G>T (p.Lys222Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003003143] Chr3:128485932 [GRCh38]
Chr3:128204775 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1003C>T (p.Pro335Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003055721] Chr3:128483874 [GRCh38]
Chr3:128202717 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.897G>T (p.Gly299=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002636311] Chr3:128483980 [GRCh38]
Chr3:128202823 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1217del (p.Lys406fs) deletion Deafness-lymphedema-leukemia syndrome [RCV002871180] Chr3:128481245 [GRCh38]
Chr3:128200088 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.27_28inv (p.Trp10Gly) inversion Deafness-lymphedema-leukemia syndrome [RCV002571866] Chr3:128487004..128487005 [GRCh38]
Chr3:128205847..128205848 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+8C>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002998718] Chr3:128483852 [GRCh38]
Chr3:128202695 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.730C>A (p.His244Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002659234] Chr3:128485868 [GRCh38]
Chr3:128204711 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1143+2dup duplication Deafness-lymphedema-leukemia syndrome [RCV002820451] Chr3:128481816..128481817 [GRCh38]
Chr3:128200659..128200660 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1339A>G (p.Ser447Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003018493] Chr3:128481123 [GRCh38]
Chr3:128199966 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.995T>C (p.Leu332Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002844001] Chr3:128483882 [GRCh38]
Chr3:128202725 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.653C>A (p.Thr218Lys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002820971] Chr3:128485945 [GRCh38]
Chr3:128204788 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+581C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002637410] Chr3:128483279 [GRCh38]
Chr3:128202122 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.40C>A (p.Pro14Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002824478] Chr3:128486992 [GRCh38]
Chr3:128205835 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+612G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003079619] Chr3:128483248 [GRCh38]
Chr3:128202091 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+506T>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002885091] Chr3:128483354 [GRCh38]
Chr3:128202197 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.540A>C (p.Glu180Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002886012]|GATA2-related condition [RCV003403936] Chr3:128486058 [GRCh38]
Chr3:128204901 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.879G>A (p.Arg293=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002820774] Chr3:128483998 [GRCh38]
Chr3:128202841 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.512T>A (p.Phe171Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003018745] Chr3:128486086 [GRCh38]
Chr3:128204929 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1303G>C (p.Gly435Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003002614] Chr3:128481159 [GRCh38]
Chr3:128200002 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.236T>C (p.Leu79Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002820510] Chr3:128486362 [GRCh38]
Chr3:128205205 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+520C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002846849] Chr3:128483340 [GRCh38]
Chr3:128202183 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.322G>T (p.Ala108Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003038061] Chr3:128486276 [GRCh38]
Chr3:128205119 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.872-23_872-16dup duplication Deafness-lymphedema-leukemia syndrome [RCV002927514] Chr3:128484020..128484021 [GRCh38]
Chr3:128202863..128202864 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1144-16T>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002825146] Chr3:128481334 [GRCh38]
Chr3:128200177 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.713C>A (p.Thr238Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003021652] Chr3:128485885 [GRCh38]
Chr3:128204728 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+11G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002909475] Chr3:128483849 [GRCh38]
Chr3:128202692 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.972G>A (p.Lys324=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002592235] Chr3:128483905 [GRCh38]
Chr3:128202748 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1417T>C (p.Ser473Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002949369] Chr3:128481045 [GRCh38]
Chr3:128199888 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1410_1411delinsAA (p.His471Asn) indel Deafness-lymphedema-leukemia syndrome [RCV002592426] Chr3:128481051..128481052 [GRCh38]
Chr3:128199894..128199895 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.229+16G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002705389] Chr3:128486787 [GRCh38]
Chr3:128205630 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1077A>G (p.Leu359=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002952767] Chr3:128481885 [GRCh38]
Chr3:128200728 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.171C>T (p.Asn57=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002952784] Chr3:128486861 [GRCh38]
Chr3:128205704 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.99C>T (p.Tyr33=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002591500] Chr3:128486933 [GRCh38]
Chr3:128205776 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1041C>G (p.Thr347=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002847980] Chr3:128481921 [GRCh38]
Chr3:128200764 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.203C>T (p.Ala68Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003086008] Chr3:128486829 [GRCh38]
Chr3:128205672 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.69C>T (p.Asp23=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002933426] Chr3:128486963 [GRCh38]
Chr3:128205806 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.21G>A (p.Gln7=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003059318] Chr3:128487011 [GRCh38]
Chr3:128205854 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.48G>A (p.Val16=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002876733] Chr3:128486984 [GRCh38]
Chr3:128205827 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.702T>C (p.Ala234=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003004951] Chr3:128485896 [GRCh38]
Chr3:128204739 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.273C>T (p.His91=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002627186] Chr3:128486325 [GRCh38]
Chr3:128205168 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.121C>A (p.Pro41Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002596471] Chr3:128486911 [GRCh38]
Chr3:128205754 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.229+12dup duplication Deafness-lymphedema-leukemia syndrome [RCV002596516] Chr3:128486790..128486791 [GRCh38]
Chr3:128205633..128205634 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.288_289del (p.Trp97fs) deletion Deafness-lymphedema-leukemia syndrome [RCV002871688] Chr3:128486309..128486310 [GRCh38]
Chr3:128205152..128205153 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1192C>G (p.Arg398Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003043338] Chr3:128481270 [GRCh38]
Chr3:128200113 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.744C>G (p.Thr248=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002853279] Chr3:128485854 [GRCh38]
Chr3:128204697 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1018-7C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002700463] Chr3:128481951 [GRCh38]
Chr3:128200794 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.591C>T (p.Ser197=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002623477] Chr3:128486007 [GRCh38]
Chr3:128204850 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.872-14dup duplication Deafness-lymphedema-leukemia syndrome [RCV002642453] Chr3:128484018..128484019 [GRCh38]
Chr3:128202861..128202862 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1018-12T>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003056708] Chr3:128481956 [GRCh38]
Chr3:128200799 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.552C>T (p.Asp184=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002700324] Chr3:128486046 [GRCh38]
Chr3:128204889 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.401C>T (p.Pro134Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002766457] Chr3:128486197 [GRCh38]
Chr3:128205040 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.43G>C (p.Ala15Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003023145] Chr3:128486989 [GRCh38]
Chr3:128205832 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.296A>G (p.Asp99Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002643743]|GATA2 deficiency with susceptibility to MDS/AML [RCV003230302] Chr3:128486302 [GRCh38]
Chr3:128205145 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.85C>G (p.Leu29Val) single nucleotide variant Acute myeloid leukemia [RCV003464588]|Deafness-lymphedema-leukemia syndrome [RCV002710174] Chr3:128486947 [GRCh38]
Chr3:128205790 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1018-11T>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002894247] Chr3:128481955 [GRCh38]
Chr3:128200798 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.15C>T (p.Pro5=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002890869] Chr3:128487017 [GRCh38]
Chr3:128205860 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.259C>T (p.Pro87Ser) single nucleotide variant Acute myeloid leukemia [RCV003464641]|Deafness-lymphedema-leukemia syndrome [RCV002957700] Chr3:128486339 [GRCh38]
Chr3:128205182 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.630C>T (p.Gly210=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002876504] Chr3:128485968 [GRCh38]
Chr3:128204811 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.45C>T (p.Ala15=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002711121] Chr3:128486987 [GRCh38]
Chr3:128205830 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1145T>C (p.Val382Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002829724] Chr3:128481317 [GRCh38]
Chr3:128200160 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1216A>C (p.Lys406Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002575570] Chr3:128481246 [GRCh38]
Chr3:128200089 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+646C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002623465] Chr3:128483214 [GRCh38]
Chr3:128202057 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.775G>C (p.Asp259His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002711706] Chr3:128485823 [GRCh38]
Chr3:128204666 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.233G>T (p.Arg78Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002700919] Chr3:128486365 [GRCh38]
Chr3:128205208 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.175T>A (p.Tyr59Asn) single nucleotide variant not provided [RCV002508687] Chr3:128486857 [GRCh38]
Chr3:128205700 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.765G>A (p.Ala255=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003058702] Chr3:128485833 [GRCh38]
Chr3:128204676 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1252T>A (p.Ser418Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002666544] Chr3:128481210 [GRCh38]
Chr3:128200053 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1277C>A (p.Ser426Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002712134] Chr3:128481185 [GRCh38]
Chr3:128200028 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.832T>C (p.Phe278Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002644396] Chr3:128485766 [GRCh38]
Chr3:128204609 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+557T>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003061177] Chr3:128483303 [GRCh38]
Chr3:128202146 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1143+14G>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003089922] Chr3:128481805 [GRCh38]
Chr3:128200648 [GRCh37]
Chr3:3q21.3		 likely benign
NC_000003.12:g.128479261G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002651735] Chr3:128479261 [GRCh38]
Chr3:128198104 [GRCh37]
Chr3:3q21.3		 benign
NM_032638.5(GATA2):c.1126_1143+54del deletion Deafness-lymphedema-leukemia syndrome [RCV003049305] Chr3:128481765..128481836 [GRCh38]
Chr3:128200608..128200679 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.423C>G (p.Tyr141Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002857223] Chr3:128486175 [GRCh38]
Chr3:128205018 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.192T>A (p.Ala64=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003030791] Chr3:128486840 [GRCh38]
Chr3:128205683 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.98A>G (p.Tyr33Cys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002720427] Chr3:128486934 [GRCh38]
Chr3:128205777 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1214A>G (p.Lys405Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003091868] Chr3:128481248 [GRCh38]
Chr3:128200091 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+666C>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002632711] Chr3:128483194 [GRCh38]
Chr3:128202037 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.999C>A (p.Ile333=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002632623] Chr3:128483878 [GRCh38]
Chr3:128202721 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.610C>G (p.Arg204Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003027771] Chr3:128485988 [GRCh38]
Chr3:128204831 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1246_1247delinsTT (p.Glu416Leu) indel Deafness-lymphedema-leukemia syndrome [RCV002833007] Chr3:128481215..128481216 [GRCh38]
Chr3:128200058..128200059 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1180C>T (p.Gln394Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002856671] Chr3:128481282 [GRCh38]
Chr3:128200125 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1267del (p.Glu423fs) deletion Deafness-lymphedema-leukemia syndrome [RCV002857571] Chr3:128481195 [GRCh38]
Chr3:128200038 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1143+7del deletion Deafness-lymphedema-leukemia syndrome [RCV002898629] Chr3:128481812 [GRCh38]
Chr3:128200655 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+558C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003087953] Chr3:128483302 [GRCh38]
Chr3:128202145 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.222C>G (p.Pro74=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003046804] Chr3:128486810 [GRCh38]
Chr3:128205653 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.940T>C (p.Tyr314His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002933987] Chr3:128483937 [GRCh38]
Chr3:128202780 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.871+18G>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002857240] Chr3:128485709 [GRCh38]
Chr3:128204552 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.95A>G (p.Asn32Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002577700] Chr3:128486937 [GRCh38]
Chr3:128205780 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.577C>G (p.Pro193Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002834986] Chr3:128486021 [GRCh38]
Chr3:128204864 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1248G>A (p.Glu416=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003030928] Chr3:128481214 [GRCh38]
Chr3:128200057 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.560C>T (p.Thr187Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002629031] Chr3:128486038 [GRCh38]
Chr3:128204881 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.238A>G (p.Thr80Ala) single nucleotide variant Acute myeloid leukemia [RCV003465968]|Deafness-lymphedema-leukemia syndrome [RCV003090516] Chr3:128486360 [GRCh38]
Chr3:128205203 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.600T>G (p.Gly200=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002833255] Chr3:128485998 [GRCh38]
Chr3:128204841 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+559G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002629547] Chr3:128483301 [GRCh38]
Chr3:128202144 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.446G>A (p.Gly149Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002598828] Chr3:128486152 [GRCh38]
Chr3:128204995 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.436G>A (p.Gly146Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002745925] Chr3:128486162 [GRCh38]
Chr3:128205005 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.683C>T (p.Pro228Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002833945] Chr3:128485915 [GRCh38]
Chr3:128204758 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1023C>G (p.Ala341=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002898573] Chr3:128481939 [GRCh38]
Chr3:128200782 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.47T>G (p.Val16Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003063924] Chr3:128486985 [GRCh38]
Chr3:128205828 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.872-18C>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002631650] Chr3:128484023 [GRCh38]
Chr3:128202866 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.14_15delinsTG (p.Pro5Leu) indel Deafness-lymphedema-leukemia syndrome [RCV003046832] Chr3:128487017..128487018 [GRCh38]
Chr3:128205860..128205861 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.99C>A (p.Tyr33Ter) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002834496] Chr3:128486933 [GRCh38]
Chr3:128205776 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.229+7A>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003030653] Chr3:128486796 [GRCh38]
Chr3:128205639 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+616C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002966615] Chr3:128483244 [GRCh38]
Chr3:128202087 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1258T>G (p.Cys420Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002811696] Chr3:128481204 [GRCh38]
Chr3:128200047 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.814G>A (p.Gly272Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002671340] Chr3:128485784 [GRCh38]
Chr3:128204627 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+598_1017+600del microsatellite Deafness-lymphedema-leukemia syndrome [RCV003047846] Chr3:128483260..128483262 [GRCh38]
Chr3:128202103..128202105 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.786C>G (p.Ser262Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003088593] Chr3:128485812 [GRCh38]
Chr3:128204655 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+669A>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003046754] Chr3:128483191 [GRCh38]
Chr3:128202034 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.631G>A (p.Val211Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003049216] Chr3:128485967 [GRCh38]
Chr3:128204810 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.909C>T (p.Thr303=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003091206] Chr3:128483968 [GRCh38]
Chr3:128202811 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.470C>G (p.Ala157Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003064155] Chr3:128486128 [GRCh38]
Chr3:128204971 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.536A>T (p.Lys179Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002602087] Chr3:128486062 [GRCh38]
Chr3:128204905 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1177A>C (p.Ile393Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002922615] Chr3:128481285 [GRCh38]
Chr3:128200128 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.105A>G (p.Glu35=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003067050] Chr3:128486927 [GRCh38]
Chr3:128205770 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.577C>T (p.Pro193Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002583230] Chr3:128486021 [GRCh38]
Chr3:128204864 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+523A>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003049797] Chr3:128483337 [GRCh38]
Chr3:128202180 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.340A>G (p.Asn114Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003092326] Chr3:128486258 [GRCh38]
Chr3:128205101 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.173C>T (p.Pro58Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002942886] Chr3:128486859 [GRCh38]
Chr3:128205702 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+644A>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003070238] Chr3:128483216 [GRCh38]
Chr3:128202059 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1269G>C (p.Glu423Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002608612] Chr3:128481193 [GRCh38]
Chr3:128200036 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+667_1017+675del deletion Deafness-lymphedema-leukemia syndrome [RCV002655003] Chr3:128483185..128483193 [GRCh38]
Chr3:128202028..128202036 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+666C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003093388] Chr3:128483194 [GRCh38]
Chr3:128202037 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.578C>T (p.Pro193Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002942166] Chr3:128486020 [GRCh38]
Chr3:128204863 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.528G>A (p.Thr176=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003051385] Chr3:128486070 [GRCh38]
Chr3:128204913 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.596G>C (p.Gly199Ala) single nucleotide variant Acute myeloid leukemia [RCV003459735]|Deafness-lymphedema-leukemia syndrome [RCV003067725] Chr3:128486002 [GRCh38]
Chr3:128204845 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.265T>C (p.Leu89=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003071442] Chr3:128486333 [GRCh38]
Chr3:128205176 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1090G>C (p.Ala364Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV002942617] Chr3:128481872 [GRCh38]
Chr3:128200715 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+560T>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003051795] Chr3:128483300 [GRCh38]
Chr3:128202143 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1146T>A (p.Val382=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003072657] Chr3:128481316 [GRCh38]
Chr3:128200159 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+484T>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003071053] Chr3:128483376 [GRCh38]
Chr3:128202219 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1333C>G (p.Pro445Ala) single nucleotide variant Acute myeloid leukemia [RCV003459809]|not provided [RCV003227216] Chr3:128481129 [GRCh38]
Chr3:128199972 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1080G>A (p.Trp360Ter) single nucleotide variant Myelodysplastic syndrome [RCV003224958] Chr3:128481882 [GRCh38]
Chr3:128200725 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1016T>C (p.Leu339Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003777364]|not provided [RCV003325761] Chr3:128483861 [GRCh38]
Chr3:128202704 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.154C>G (p.Leu52Val) single nucleotide variant Acute myeloid leukemia [RCV003461657] Chr3:128486878 [GRCh38]
Chr3:128205721 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.798C>T (p.His266=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003791655] Chr3:128485800 [GRCh38]
Chr3:128204643 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.*100C>A single nucleotide variant not provided [RCV003427343] Chr3:128480919 [GRCh38]
Chr3:128199762 [GRCh37]
Chr3:3q21.3		 benign
NM_032638.5(GATA2):c.569_570insAAGC (p.Ala191fs) insertion not provided [RCV003480465] Chr3:128486028..128486029 [GRCh38]
Chr3:128204871..128204872 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.894_895del (p.Cys298fs) microsatellite not provided [RCV003480464] Chr3:128483982..128483983 [GRCh38]
Chr3:128202825..128202826 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.7G>C (p.Val3Leu) single nucleotide variant Acute myeloid leukemia [RCV003461656] Chr3:128487025 [GRCh38]
Chr3:128205868 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1202C>G (p.Ser401Cys) single nucleotide variant Acute myeloid leukemia [RCV003461658] Chr3:128481260 [GRCh38]
Chr3:128200103 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.598G>C (p.Gly200Arg) single nucleotide variant Acute myeloid leukemia [RCV003468252]|Deafness-lymphedema-leukemia syndrome [RCV003779035] Chr3:128486000 [GRCh38]
Chr3:128204843 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1394T>C (p.Leu465Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003806458] Chr3:128481068 [GRCh38]
Chr3:128199911 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.872-9C>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003797398] Chr3:128484014 [GRCh38]
Chr3:128202857 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+615T>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003807216] Chr3:128483245 [GRCh38]
Chr3:128202088 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.996C>A (p.Leu332=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003807524] Chr3:128483881 [GRCh38]
Chr3:128202724 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.232C>A (p.Arg78Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003805051] Chr3:128486366 [GRCh38]
Chr3:128205209 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.332A>T (p.His111Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003782094] Chr3:128486266 [GRCh38]
Chr3:128205109 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.330C>T (p.Ala110=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003793692] Chr3:128486268 [GRCh38]
Chr3:128205111 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.268T>G (p.Leu90Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003795231] Chr3:128486330 [GRCh38]
Chr3:128205173 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.874G>A (p.Gly292Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003797480] Chr3:128484003 [GRCh38]
Chr3:128202846 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1409C>T (p.Pro470Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003783548] Chr3:128481053 [GRCh38]
Chr3:128199896 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.120G>A (p.Leu40=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003804109] Chr3:128486912 [GRCh38]
Chr3:128205755 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.369G>A (p.Lys123=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003785944] Chr3:128486229 [GRCh38]
Chr3:128205072 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.784A>G (p.Ser262Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003790961] Chr3:128485814 [GRCh38]
Chr3:128204657 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1334C>T (p.Pro445Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003792602] Chr3:128481128 [GRCh38]
Chr3:128199971 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.614G>A (p.Gly205Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003782328] Chr3:128485984 [GRCh38]
Chr3:128204827 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1398C>T (p.Ser466=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003796595] Chr3:128481064 [GRCh38]
Chr3:128199907 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.198G>A (p.Ala66=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003797409] Chr3:128486834 [GRCh38]
Chr3:128205677 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.391G>A (p.Ala131Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003792674] Chr3:128486207 [GRCh38]
Chr3:128205050 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+657C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003807963] Chr3:128483203 [GRCh38]
Chr3:128202046 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.637T>C (p.Tyr213His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003791272] Chr3:128485961 [GRCh38]
Chr3:128204804 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.298G>A (p.Gly100Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003787394] Chr3:128486300 [GRCh38]
Chr3:128205143 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.420G>A (p.Val140=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003782604] Chr3:128486178 [GRCh38]
Chr3:128205021 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.397G>C (p.Gly133Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003805945] Chr3:128486201 [GRCh38]
Chr3:128205044 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.230-6C>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003807565] Chr3:128486374 [GRCh38]
Chr3:128205217 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.967C>T (p.His323Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003783852] Chr3:128483910 [GRCh38]
Chr3:128202753 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.533C>G (p.Pro178Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003806814] Chr3:128486065 [GRCh38]
Chr3:128204908 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.687G>A (p.Leu229=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003787593] Chr3:128485911 [GRCh38]
Chr3:128204754 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1393C>T (p.Leu465Phe) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003781163] Chr3:128481069 [GRCh38]
Chr3:128199912 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+582G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003793195] Chr3:128483278 [GRCh38]
Chr3:128202121 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.29G>T (p.Trp10Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003805977] Chr3:128487003 [GRCh38]
Chr3:128205846 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1368G>C (p.Pro456=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003807373] Chr3:128481094 [GRCh38]
Chr3:128199937 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.219C>G (p.Ser73Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003797767] Chr3:128486813 [GRCh38]
Chr3:128205656 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.890A>G (p.Asn297Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003781373] Chr3:128483987 [GRCh38]
Chr3:128202830 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+593G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003783252] Chr3:128483267 [GRCh38]
Chr3:128202110 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.241G>A (p.Gly81Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003796001] Chr3:128486357 [GRCh38]
Chr3:128205200 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.418G>A (p.Val140Met) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003806203] Chr3:128486180 [GRCh38]
Chr3:128205023 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.489A>G (p.Ala163=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003783337] Chr3:128486109 [GRCh38]
Chr3:128204952 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.866G>C (p.Cys289Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003781796] Chr3:128485732 [GRCh38]
Chr3:128204575 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.701C>G (p.Ala234Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003805811] Chr3:128485897 [GRCh38]
Chr3:128204740 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+662A>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003786239] Chr3:128483198 [GRCh38]
Chr3:128202041 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+691T>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003789594] Chr3:128483169 [GRCh38]
Chr3:128202012 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1356C>G (p.Ile452Met) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003782597] Chr3:128481106 [GRCh38]
Chr3:128199949 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+618C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003793638] Chr3:128483242 [GRCh38]
Chr3:128202085 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.229+8C>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003784617] Chr3:128486795 [GRCh38]
Chr3:128205638 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.485C>T (p.Thr162Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003785999] Chr3:128486113 [GRCh38]
Chr3:128204956 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.603T>C (p.Ser201=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003792928] Chr3:128485995 [GRCh38]
Chr3:128204838 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1188G>A (p.Arg396=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003804571] Chr3:128481274 [GRCh38]
Chr3:128200117 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1086A>T (p.Arg362=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003805880] Chr3:128481876 [GRCh38]
Chr3:128200719 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.509T>C (p.Leu170Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003784616] Chr3:128486089 [GRCh38]
Chr3:128204932 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.228C>G (p.His76Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003787464] Chr3:128486804 [GRCh38]
Chr3:128205647 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1341C>G (p.Ser447Arg) single nucleotide variant Myelodysplastic syndrome [RCV003486391] Chr3:128481121 [GRCh38]
Chr3:128199964 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.85C>T (p.Leu29=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003806571] Chr3:128486947 [GRCh38]
Chr3:128205790 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.554C>G (p.Pro185Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003793046] Chr3:128486044 [GRCh38]
Chr3:128204887 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.597G>T (p.Gly199=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003795272] Chr3:128486001 [GRCh38]
Chr3:128204844 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1231G>C (p.Ala411Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003796420] Chr3:128481231 [GRCh38]
Chr3:128200074 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1215G>C (p.Lys405Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003796445] Chr3:128481247 [GRCh38]
Chr3:128200090 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.910C>A (p.Pro304Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003792457] Chr3:128483967 [GRCh38]
Chr3:128202810 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.421T>C (p.Tyr141His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003804200] Chr3:128486177 [GRCh38]
Chr3:128205020 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.76C>T (p.His26Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003804774] Chr3:128486956 [GRCh38]
Chr3:128205799 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+556T>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003787033] Chr3:128483304 [GRCh38]
Chr3:128202147 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.800C>A (p.Pro267His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003789227] Chr3:128485798 [GRCh38]
Chr3:128204641 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1281C>T (p.Pro427=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003793288] Chr3:128481181 [GRCh38]
Chr3:128200024 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.782G>A (p.Ser261Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003794011] Chr3:128485816 [GRCh38]
Chr3:128204659 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1143+3G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003788549] Chr3:128481816 [GRCh38]
Chr3:128200659 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.822G>C (p.Pro274=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003781147] Chr3:128485776 [GRCh38]
Chr3:128204619 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.753C>G (p.Ser251=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003806130] Chr3:128485845 [GRCh38]
Chr3:128204688 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+516G>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003786402] Chr3:128483344 [GRCh38]
Chr3:128202187 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.913C>G (p.Leu305Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003794652] Chr3:128483964 [GRCh38]
Chr3:128202807 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1316C>A (p.Pro439His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003806756] Chr3:128481146 [GRCh38]
Chr3:128199989 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.703A>G (p.Thr235Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003788666] Chr3:128485895 [GRCh38]
Chr3:128204738 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.550G>C (p.Asp184His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003794696] Chr3:128486048 [GRCh38]
Chr3:128204891 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1300G>A (p.Ala434Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003806401] Chr3:128481162 [GRCh38]
Chr3:128200005 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.415T>C (p.Ser139Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003782456] Chr3:128486183 [GRCh38]
Chr3:128205026 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1287T>A (p.Ser429Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003786320] Chr3:128481175 [GRCh38]
Chr3:128200018 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+484T>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003787323] Chr3:128483376 [GRCh38]
Chr3:128202219 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.254G>A (p.Cys85Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003784528] Chr3:128486344 [GRCh38]
Chr3:128205187 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.542T>G (p.Val181Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003787370] Chr3:128486056 [GRCh38]
Chr3:128204899 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.229+19G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003790194] Chr3:128486784 [GRCh38]
Chr3:128205627 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1095C>G (p.Asn365Lys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003781745] Chr3:128481867 [GRCh38]
Chr3:128200710 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.697C>T (p.Leu233=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003792536] Chr3:128485901 [GRCh38]
Chr3:128204744 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+621T>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003796997] Chr3:128483239 [GRCh38]
Chr3:128202082 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1078T>C (p.Trp360Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003807225] Chr3:128481884 [GRCh38]
Chr3:128200727 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1009C>A (p.Arg337=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003788710] Chr3:128483868 [GRCh38]
Chr3:128202711 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.839C>T (p.Pro280Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003807017] Chr3:128485759 [GRCh38]
Chr3:128204602 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.2T>G (p.Met1Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003790987] Chr3:128487030 [GRCh38]
Chr3:128205873 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.631G>T (p.Val211Phe) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003792921] Chr3:128485967 [GRCh38]
Chr3:128204810 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+590dup duplication Deafness-lymphedema-leukemia syndrome [RCV003789505] Chr3:128483269..128483270 [GRCh38]
Chr3:128202112..128202113 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.871+19G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003794701] Chr3:128485708 [GRCh38]
Chr3:128204551 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.877C>T (p.Arg293Trp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003796456] Chr3:128484000 [GRCh38]
Chr3:128202843 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.305_309del (p.Lys102fs) deletion Deafness-lymphedema-leukemia syndrome [RCV003804969] Chr3:128486289..128486293 [GRCh38]
Chr3:128205132..128205136 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.229+12G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003786517] Chr3:128486791 [GRCh38]
Chr3:128205634 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.795C>T (p.Phe265=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003787361] Chr3:128485803 [GRCh38]
Chr3:128204646 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+620C>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003805941] Chr3:128483240 [GRCh38]
Chr3:128202083 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.126A>T (p.Pro42=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003784487] Chr3:128486906 [GRCh38]
Chr3:128205749 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.484A>C (p.Thr162Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003786221] Chr3:128486114 [GRCh38]
Chr3:128204957 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.535A>G (p.Lys179Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003789120] Chr3:128486063 [GRCh38]
Chr3:128204906 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1159A>G (p.Thr387Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003796590] Chr3:128481303 [GRCh38]
Chr3:128200146 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+571C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003806064] Chr3:128483289 [GRCh38]
Chr3:128202132 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1442A>G (p.Ter481Trp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003807155] Chr3:128481020 [GRCh38]
Chr3:128199863 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.493C>T (p.His165Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003783517] Chr3:128486105 [GRCh38]
Chr3:128204948 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.993A>G (p.Pro331=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003806112] Chr3:128483884 [GRCh38]
Chr3:128202727 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.275G>A (p.Ser92Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003781141]|Inborn genetic diseases [RCV004366543] Chr3:128486323 [GRCh38]
Chr3:128205166 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1287T>C (p.Ser429=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003783284] Chr3:128481175 [GRCh38]
Chr3:128200018 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1036G>C (p.Gly346Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003788241] Chr3:128481926 [GRCh38]
Chr3:128200769 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.813G>T (p.Leu271=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003788488] Chr3:128485785 [GRCh38]
Chr3:128204628 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.463T>C (p.Ser155Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003792697] Chr3:128486135 [GRCh38]
Chr3:128204978 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.675T>C (p.Ser225=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003788667] Chr3:128485923 [GRCh38]
Chr3:128204766 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1416G>T (p.Pro472=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003780747] Chr3:128481046 [GRCh38]
Chr3:128199889 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.372G>C (p.Thr124=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003782485] Chr3:128486226 [GRCh38]
Chr3:128205069 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.207C>A (p.Arg69=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003787258] Chr3:128486825 [GRCh38]
Chr3:128205668 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.478A>C (p.Thr160Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003780613] Chr3:128486120 [GRCh38]
Chr3:128204963 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.405A>C (p.Gly135=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003783842] Chr3:128486193 [GRCh38]
Chr3:128205036 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1325A>C (p.His442Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003794170] Chr3:128481137 [GRCh38]
Chr3:128199980 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.953C>T (p.Ala318Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003792476] Chr3:128483924 [GRCh38]
Chr3:128202767 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.866G>T (p.Cys289Phe) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003791664] Chr3:128485732 [GRCh38]
Chr3:128204575 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+579T>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003782070] Chr3:128483281 [GRCh38]
Chr3:128202124 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.246C>T (p.Gly82=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003782667] Chr3:128486352 [GRCh38]
Chr3:128205195 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.41C>A (p.Pro14Gln) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003804402] Chr3:128486991 [GRCh38]
Chr3:128205834 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.334C>G (p.His112Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003786737] Chr3:128486264 [GRCh38]
Chr3:128205107 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.277C>T (p.Pro93Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003789727] Chr3:128486321 [GRCh38]
Chr3:128205164 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.77A>C (p.His26Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003781025] Chr3:128486955 [GRCh38]
Chr3:128205798 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+534T>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003798839] Chr3:128483326 [GRCh38]
Chr3:128202169 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1017+596T>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003798912] Chr3:128483264 [GRCh38]
Chr3:128202107 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1366C>T (p.Pro456Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003797974] Chr3:128481096 [GRCh38]
Chr3:128199939 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.789A>C (p.Gly263=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003809295] Chr3:128485809 [GRCh38]
Chr3:128204652 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1359G>T (p.Leu453=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003810369] Chr3:128481103 [GRCh38]
Chr3:128199946 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.886G>A (p.Val296Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003800186] Chr3:128483991 [GRCh38]
Chr3:128202834 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.534C>G (p.Pro178=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003801326] Chr3:128486064 [GRCh38]
Chr3:128204907 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1370C>A (p.Thr457Lys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003799037] Chr3:128481092 [GRCh38]
Chr3:128199935 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.836C>A (p.Thr279Asn) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003810391] Chr3:128485762 [GRCh38]
Chr3:128204605 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC (p.Gly268fs) microsatellite Deafness-lymphedema-leukemia syndrome [RCV003801405] Chr3:128485796..128485797 [GRCh38]
Chr3:128204639..128204640 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1038dup (p.Thr347fs) duplication Deafness-lymphedema-leukemia syndrome [RCV003801403] Chr3:128481923..128481924 [GRCh38]
Chr3:128200766..128200767 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1037G>C (p.Gly346Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003801404] Chr3:128481925 [GRCh38]
Chr3:128200768 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.837C>A (p.Thr279=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003808350] Chr3:128485761 [GRCh38]
Chr3:128204604 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.871+5A>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003812775] Chr3:128485722 [GRCh38]
Chr3:128204565 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.449G>A (p.Gly150Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003808433] Chr3:128486149 [GRCh38]
Chr3:128204992 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.965A>G (p.Tyr322Cys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003808502] Chr3:128483912 [GRCh38]
Chr3:128202755 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.759G>C (p.Val253=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003812713] Chr3:128485839 [GRCh38]
Chr3:128204682 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1352A>C (p.His451Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003808475] Chr3:128481110 [GRCh38]
Chr3:128199953 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.329C>T (p.Ala110Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003799545] Chr3:128486269 [GRCh38]
Chr3:128205112 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.189C>G (p.Pro63=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003799636] Chr3:128486843 [GRCh38]
Chr3:128205686 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.647C>T (p.Ser216Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003812457] Chr3:128485951 [GRCh38]
Chr3:128204794 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1368G>T (p.Pro456=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003813631] Chr3:128481094 [GRCh38]
Chr3:128199937 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.849C>A (p.Arg283=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003799943] Chr3:128485749 [GRCh38]
Chr3:128204592 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.615_629dup (p.Gly210_Val211insGluAspLysAspGly) duplication Deafness-lymphedema-leukemia syndrome [RCV003801626] Chr3:128485968..128485969 [GRCh38]
Chr3:128204811..128204812 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.478A>T (p.Thr160Ser) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003801641] Chr3:128486120 [GRCh38]
Chr3:128204963 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1083C>T (p.Arg361=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003801642] Chr3:128481879 [GRCh38]
Chr3:128200722 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.750C>G (p.Pro250=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003798479] Chr3:128485848 [GRCh38]
Chr3:128204691 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1347C>G (p.Ser449=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003797950] Chr3:128481115 [GRCh38]
Chr3:128199958 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1141A>G (p.Asn381Asp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003810330] Chr3:128481821 [GRCh38]
Chr3:128200664 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.430G>A (p.Ala144Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003801905] Chr3:128486168 [GRCh38]
Chr3:128205011 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1027_1041del (p.Arg343_Thr347del) deletion Deafness-lymphedema-leukemia syndrome [RCV003800291] Chr3:128481921..128481935 [GRCh38]
Chr3:128200764..128200778 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.217A>G (p.Ser73Gly) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003800807] Chr3:128486815 [GRCh38]
Chr3:128205658 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.663G>T (p.Met221Ile) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003800816] Chr3:128485935 [GRCh38]
Chr3:128204778 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.544T>A (p.Ser182Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003801761] Chr3:128486054 [GRCh38]
Chr3:128204897 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.911C>A (p.Pro304His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003800374] Chr3:128483966 [GRCh38]
Chr3:128202809 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+641A>C single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003809048] Chr3:128483219 [GRCh38]
Chr3:128202062 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.80C>T (p.Pro27Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003801975] Chr3:128486952 [GRCh38]
Chr3:128205795 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1125C>G (p.Leu375=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003817977] Chr3:128481837 [GRCh38]
Chr3:128200680 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.162G>C (p.Ser54=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003812962] Chr3:128486870 [GRCh38]
Chr3:128205713 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.866G>A (p.Cys289Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003809289] Chr3:128485732 [GRCh38]
Chr3:128204575 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+616C>G single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003809443] Chr3:128483244 [GRCh38]
Chr3:128202087 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.871+1G>A single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003801539] Chr3:128485726 [GRCh38]
Chr3:128204569 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.562A>G (p.Thr188Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003809742] Chr3:128486036 [GRCh38]
Chr3:128204879 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1338C>A (p.Phe446Leu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003808751] Chr3:128481124 [GRCh38]
Chr3:128199967 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.656_675del (p.Glu219fs) deletion Deafness-lymphedema-leukemia syndrome [RCV003815489] Chr3:128485923..128485942 [GRCh38]
Chr3:128204766..128204785 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.930C>T (p.Gly310=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003817757] Chr3:128483947 [GRCh38]
Chr3:128202790 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1019C>G (p.Ser340Trp) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003798804] Chr3:128481943 [GRCh38]
Chr3:128200786 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1082_1083dup (p.Arg362fs) microsatellite Deafness-lymphedema-leukemia syndrome [RCV003809129] Chr3:128481878..128481879 [GRCh38]
Chr3:128200721..128200722 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.26G>A (p.Arg9His) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003815355] Chr3:128487006 [GRCh38]
Chr3:128205849 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1161C>T (p.Thr387=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003797946] Chr3:128481301 [GRCh38]
Chr3:128200144 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.741C>T (p.Pro247=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003810283] Chr3:128485857 [GRCh38]
Chr3:128204700 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1283T>A (p.Phe428Tyr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003815405] Chr3:128481179 [GRCh38]
Chr3:128200022 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1017+584G>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003810412] Chr3:128483276 [GRCh38]
Chr3:128202119 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.323C>T (p.Ala108Val) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003812591] Chr3:128486275 [GRCh38]
Chr3:128205118 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.702T>A (p.Ala234=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003815701] Chr3:128485896 [GRCh38]
Chr3:128204739 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.645G>A (p.Val215=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003798152] Chr3:128485953 [GRCh38]
Chr3:128204796 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.783_787dup (p.Gly263fs) duplication Deafness-lymphedema-leukemia syndrome [RCV003808876] Chr3:128485810..128485811 [GRCh38]
Chr3:128204653..128204654 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1325A>G (p.His442Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003812504] Chr3:128481137 [GRCh38]
Chr3:128199980 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1276T>C (p.Ser426Pro) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003815469] Chr3:128481186 [GRCh38]
Chr3:128200029 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.733C>A (p.Pro245Thr) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003800989] Chr3:128485865 [GRCh38]
Chr3:128204708 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.230-5C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003810138] Chr3:128486373 [GRCh38]
Chr3:128205216 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.230-20C>T single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003813435] Chr3:128486388 [GRCh38]
Chr3:128205231 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1341C>T (p.Ser447=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003800699] Chr3:128481121 [GRCh38]
Chr3:128199964 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.211T>G (p.Ser71Ala) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003809433] Chr3:128486821 [GRCh38]
Chr3:128205664 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.87G>A (p.Leu29=) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003801381] Chr3:128486945 [GRCh38]
Chr3:128205788 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.522del (p.Thr176fs) deletion Deafness-lymphedema-leukemia syndrome [RCV003815455] Chr3:128486076 [GRCh38]
Chr3:128204919 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.159C>G (p.Asp53Glu) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003800941] Chr3:128486873 [GRCh38]
Chr3:128205716 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1196_1197insAG (p.Met400fs) insertion Deafness-lymphedema-leukemia syndrome [RCV003802058] Chr3:128481265..128481266 [GRCh38]
Chr3:128200108..128200109 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_032638.5(GATA2):c.1426G>A (p.Val476Met) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003802944] Chr3:128481036 [GRCh38]
Chr3:128199879 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1089C>G (p.Asn363Lys) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003802705] Chr3:128481873 [GRCh38]
Chr3:128200716 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.80C>G (p.Pro27Arg) single nucleotide variant Deafness-lymphedema-leukemia syndrome [RCV003803050] Chr3:128486952 [GRCh38]
Chr3:128205795 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.1103C>G (p.Pro368Arg) single nucleotide variant Monocytopenia with susceptibility to infections [RCV003990037] Chr3:128481859 [GRCh38]
Chr3:128200702 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.-4G>T single nucleotide variant GATA2-related condition [RCV003902005] Chr3:128487035 [GRCh38]
Chr3:128205878 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1194G>A (p.Arg398=) single nucleotide variant GATA2-related condition [RCV003956858] Chr3:128481268 [GRCh38]
Chr3:128200111 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.79C>T (p.Pro27Ser) single nucleotide variant Monocytopenia with susceptibility to infections [RCV003990443] Chr3:128486953 [GRCh38]
Chr3:128205796 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.849C>T (p.Arg283=) single nucleotide variant GATA2-related condition [RCV003954659] Chr3:128485749 [GRCh38]
Chr3:128204592 [GRCh37]
Chr3:3q21.3		 likely benign
NM_032638.5(GATA2):c.1402G>T (p.Gly468Cys) single nucleotide variant Inborn genetic diseases [RCV004395115] Chr3:128481060 [GRCh38]
Chr3:128199903 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_032638.5(GATA2):c.750del (p.Ser251fs) deletion Monocytopenia with susceptibility to infections [RCV003150602] Chr3:128485848 [GRCh38]
Chr3:128204691 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_032638.5(GATA2):c.1018_1036delinsAATTT (p.Ser340fs) indel Monocytopenia with susceptibility to infections [RCV003150598] Chr3:128481926..128481944 [GRCh38]
Chr3:128200769..128200787 [GRCh37]
Chr3:3q21.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2244
Count of miRNA genes:901
Interacting mature miRNAs:1068
Transcripts:ENST00000341105, ENST00000430265, ENST00000487848, ENST00000489987, ENST00000492608, ENST00000498200
Prediction methods: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
PMC58532P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,200,030 - 128,200,773UniSTSGRCh37
Build 363129,682,720 - 129,683,463RGDNCBI36
Celera3126,627,999 - 126,628,742RGD
Cytogenetic Map3q21.3UniSTS
HuRef3125,584,072 - 125,584,815UniSTS
GATA2_662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,198,266 - 128,198,907UniSTSGRCh37
Build 363129,680,956 - 129,681,597RGDNCBI36
Celera3126,626,235 - 126,626,876RGD
HuRef3125,582,308 - 125,582,949UniSTS
SHGC-77315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,198,435 - 128,198,553UniSTSGRCh37
Build 363129,681,125 - 129,681,243RGDNCBI36
Celera3126,626,404 - 126,626,522RGD
Cytogenetic Map3q21.3UniSTS
HuRef3125,582,477 - 125,582,595UniSTS
TNG Radiation Hybrid Map238813.0UniSTS
GeneMap99-GB4 RH Map3452.72UniSTS
D3S3103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,199,345 - 128,199,520UniSTSGRCh37
Build 363129,682,035 - 129,682,210RGDNCBI36
Celera3126,627,314 - 126,627,489RGD
Cytogenetic Map3q21.3UniSTS
HuRef3125,583,387 - 125,583,562UniSTS
TNG Radiation Hybrid Map238809.0UniSTS
GeneMap99-GB4 RH Map3452.72UniSTS
Whitehead-RH Map3550.7UniSTS
NCBI RH Map31089.5UniSTS
RH76244  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q21.3UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1
Medium 1030 514 645 36 331 18 1844 766 754 220 774 1154 26 1051 1017 4
Low 1380 2205 946 462 803 322 2406 1421 2868 187 663 438 144 153 1769 1
Below cutoff 13 259 129 124 418 124 97 6 88 11 13 12 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC080005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF169253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI524325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA636256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA837371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC009144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU892678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M68891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M77810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S72871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000341105   ⟹   ENSP00000345681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,479,427 - 128,493,201 (-)Ensembl
RefSeq Acc Id: ENST00000430265   ⟹   ENSP00000400259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,480,146 - 128,487,916 (-)Ensembl
RefSeq Acc Id: ENST00000487848   ⟹   ENSP00000417074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,479,427 - 128,488,530 (-)Ensembl
RefSeq Acc Id: ENST00000489987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,480,146 - 128,482,078 (-)Ensembl
RefSeq Acc Id: ENST00000492608   ⟹   ENSP00000418132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,486,148 - 128,490,648 (-)Ensembl
RefSeq Acc Id: ENST00000498200   ⟹   ENSP00000419532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,487,008 - 128,493,173 (-)Ensembl
RefSeq Acc Id: ENST00000696466   ⟹   ENSP00000512647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,479,427 - 128,493,186 (-)Ensembl
RefSeq Acc Id: ENST00000696652   ⟹   ENSP00000512781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,486,803 - 128,488,530 (-)Ensembl
RefSeq Acc Id: ENST00000696653   ⟹   ENSP00000512782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,486,803 - 128,489,034 (-)Ensembl
RefSeq Acc Id: ENST00000696654   ⟹   ENSP00000512783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,486,803 - 128,493,186 (-)Ensembl
RefSeq Acc Id: ENST00000696655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,487,711 - 128,493,186 (-)Ensembl
RefSeq Acc Id: ENST00000696661   ⟹   ENSP00000512787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,486,803 - 128,491,907 (-)Ensembl
RefSeq Acc Id: ENST00000696672   ⟹   ENSP00000512796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,479,427 - 128,481,944 (-)Ensembl
RefSeq Acc Id: NM_001145661   ⟹   NP_001139133
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383128,479,427 - 128,488,530 (-)NCBI
GRCh373128,198,265 - 128,212,030 (-)ENTREZGENE
HuRef3125,582,307 - 125,596,070 (-)ENTREZGENE
CHM1_13128,161,207 - 128,170,314 (-)NCBI
T2T-CHM13v2.03131,220,988 - 131,230,091 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145662   ⟹   NP_001139134
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383128,479,422 - 128,487,921 (-)NCBI
GRCh373128,198,265 - 128,212,030 (-)ENTREZGENE
HuRef3125,582,307 - 125,596,070 (-)ENTREZGENE
CHM1_13128,161,207 - 128,169,705 (-)NCBI
T2T-CHM13v2.03131,220,983 - 131,229,482 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032638   ⟹   NP_116027
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383128,479,427 - 128,493,201 (-)NCBI
GRCh373128,198,265 - 128,212,030 (-)ENTREZGENE
Build 363129,680,960 - 129,694,718 (-)NCBI Archive
HuRef3125,582,307 - 125,596,070 (-)ENTREZGENE
CHM1_13128,161,207 - 128,175,078 (-)NCBI
T2T-CHM13v2.03131,220,988 - 131,234,760 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_116027   ⟸   NM_032638
- Peptide Label: isoform 1
- UniProtKB: Q96BH8 (UniProtKB/Swiss-Prot),   Q96BH0 (UniProtKB/Swiss-Prot),   Q53YE0 (UniProtKB/Swiss-Prot),   D3DNB3 (UniProtKB/Swiss-Prot),   Q9BUJ6 (UniProtKB/Swiss-Prot),   P23769 (UniProtKB/Swiss-Prot),   A0A8Q3WLD0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139133   ⟸   NM_001145661
- Peptide Label: isoform 1
- UniProtKB: Q96BH8 (UniProtKB/Swiss-Prot),   Q96BH0 (UniProtKB/Swiss-Prot),   Q53YE0 (UniProtKB/Swiss-Prot),   D3DNB3 (UniProtKB/Swiss-Prot),   Q9BUJ6 (UniProtKB/Swiss-Prot),   P23769 (UniProtKB/Swiss-Prot),   A0A8Q3WLD0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139134   ⟸   NM_001145662
- Peptide Label: isoform 2
- UniProtKB: A0A8Q3WLD0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000418132   ⟸   ENST00000492608
RefSeq Acc Id: ENSP00000419532   ⟸   ENST00000498200
RefSeq Acc Id: ENSP00000400259   ⟸   ENST00000430265
RefSeq Acc Id: ENSP00000417074   ⟸   ENST00000487848
RefSeq Acc Id: ENSP00000345681   ⟸   ENST00000341105
RefSeq Acc Id: ENSP00000512783   ⟸   ENST00000696654
RefSeq Acc Id: ENSP00000512647   ⟸   ENST00000696466
RefSeq Acc Id: ENSP00000512781   ⟸   ENST00000696652
RefSeq Acc Id: ENSP00000512782   ⟸   ENST00000696653
RefSeq Acc Id: ENSP00000512787   ⟸   ENST00000696661
RefSeq Acc Id: ENSP00000512796   ⟸   ENST00000696672
Protein Domains
GATA-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P23769-F1-model_v2 AlphaFold P23769 1-480 view protein structure

Promoters
RGD ID:6865600
Promoter ID:EPDNEW_H5965
Type:initiation region
Name:GATA2_1
Description:GATA binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5966  EPDNEW_H5967  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383128,487,931 - 128,487,991EPDNEW
RGD ID:6865602
Promoter ID:EPDNEW_H5966
Type:initiation region
Name:GATA2_3
Description:GATA binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5965  EPDNEW_H5967  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383128,488,530 - 128,488,590EPDNEW
RGD ID:6865604
Promoter ID:EPDNEW_H5967
Type:initiation region
Name:GATA2_2
Description:GATA binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5965  EPDNEW_H5966  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383128,493,200 - 128,493,260EPDNEW
RGD ID:6812294
Promoter ID:HG_ACW:55843
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   NB4
Transcripts:GATA2.FAPR07-UNSPLICED,   GATA2.GAPR07-UNSPLICED,   GATA2.HAPR07,   GATA2.IAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 363129,685,406 - 129,686,822 (-)MPROMDB
RGD ID:6814724
Promoter ID:HG_XEF:5626
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:NM_001002689,   NM_001003797,   NM_001090574,   NM_001104886,   NM_131233
Position:
Human AssemblyChrPosition (strand)Source
Build 363129,688,126 - 129,688,626 (-)MPROMDB
RGD ID:6801066
Promoter ID:HG_KWN:46126
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   NB4
Transcripts:NM_001145661,   NM_001145662
Position:
Human AssemblyChrPosition (strand)Source
Build 363129,689,446 - 129,689,972 (-)MPROMDB
RGD ID:6801067
Promoter ID:HG_KWN:46128
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   NB4
Transcripts:NM_032638
Position:
Human AssemblyChrPosition (strand)Source
Build 363129,694,381 - 129,694,881 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4171 AgrOrtholog
COSMIC GATA2 COSMIC
Ensembl Genes ENSG00000179348 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000341105 ENTREZGENE
  ENST00000341105.7 UniProtKB/Swiss-Prot
  ENST00000430265 ENTREZGENE
  ENST00000430265.6 UniProtKB/Swiss-Prot
  ENST00000487848 ENTREZGENE
  ENST00000487848.6 UniProtKB/Swiss-Prot
  ENST00000492608.1 UniProtKB/TrEMBL
  ENST00000498200.1 UniProtKB/TrEMBL
  ENST00000696466.1 UniProtKB/TrEMBL
  ENST00000696652.1 UniProtKB/TrEMBL
  ENST00000696653.1 UniProtKB/TrEMBL
  ENST00000696654.1 UniProtKB/TrEMBL
  ENST00000696661.1 UniProtKB/TrEMBL
  ENST00000696672.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.50.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000179348 GTEx
HGNC ID HGNC:4171 ENTREZGENE
Human Proteome Map GATA2 Human Proteome Map
InterPro TF_GATA-2/3 UniProtKB/Swiss-Prot
  Transcription_factor_GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_NHR/GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2624 UniProtKB/Swiss-Prot
NCBI Gene 2624 ENTREZGENE
OMIM 137295 OMIM
PANTHER PTHR10071 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10071:SF149 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28585 PharmGKB
PIRSF TF_GATA-1/2/3 UniProtKB/Swiss-Prot
PRINTS GATAZNFINGER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GATA_ZN_FINGER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GATA_ZN_FINGER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Glucocorticoid receptor-like (DNA-binding domain) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1D5RMQ8_HUMAN UniProtKB/TrEMBL
  A0A8Q3SJG7_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLD0 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WMC3_HUMAN UniProtKB/TrEMBL
  C9J965_HUMAN UniProtKB/TrEMBL
  D3DNB3 ENTREZGENE
  GATA2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q53YE0 ENTREZGENE
  Q96BH0 ENTREZGENE
  Q96BH8 ENTREZGENE
  Q9BUJ6 ENTREZGENE
UniProt Secondary D3DNB3 UniProtKB/Swiss-Prot
  Q53YE0 UniProtKB/Swiss-Prot
  Q96BH0 UniProtKB/Swiss-Prot
  Q96BH8 UniProtKB/Swiss-Prot
  Q9BUJ6 UniProtKB/Swiss-Prot