GATA2 (GATA binding protein 2) - Rat Genome Database
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Gene: GATA2 (GATA binding protein 2) Homo sapiens
Analyze
Symbol: GATA2
Name: GATA binding protein 2
RGD ID: 734291
HGNC Page HGNC
Description: Exhibits several functions, including C2H2 zinc finger domain binding activity; DNA-binding transcription factor activity, RNA polymerase II-specific; and chromatin binding activity. Involved in several processes, including negative regulation of cell population proliferation; positive regulation of sprouting angiogenesis; and regulation of gene expression. Localizes to cytoplasm and nucleoplasm. Implicated in acute myeloid leukemia; immunodeficiency 21; mental depression; myelodysplastic syndrome; and myeloid leukemia. Biomarker of acute myeloid leukemia; aplastic anemia; immunodeficiency 21; and myelodysplastic syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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 Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3128,479,427 - 128,493,185 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl3128,479,427 - 128,493,201 (-)EnsemblGRCh38hg38GRCh38
GRCh383128,479,422 - 128,493,201 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373128,198,265 - 128,212,030 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh373128,198,265 - 128,212,044 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363129,680,960 - 129,694,718 (-)NCBINCBI36hg18NCBI36
Build 343129,680,969 - 129,694,726NCBI
Celera3126,626,234 - 126,639,997 (-)NCBI
Cytogenetic Map3q21.3NCBI
HuRef3125,582,307 - 125,596,070 (-)NCBIHuRef
CHM1_13128,161,207 - 128,175,078 (-)NCBICHM1_1
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)
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  (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)
arsenous acid  (EXP)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
butyric acid  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
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)
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)
furan  (ISO)
hemin  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
Manumycin A  (EXP)
mercury dibromide  (EXP)
mercury dichloride  (EXP)
methapyrilene  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
nicotine  (EXP)
nitrofen  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
phenol  (EXP)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pomalidomide  (EXP)
potassium chromate  (EXP)
progesterone  (ISO)
raloxifene  (EXP)
SB 203580  (ISO)
SB 431542  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP)
tamibarotene  (EXP)
tamoxifen  (EXP,ISO)
Tellimagrandin I  (EXP)
tetracycline  (ISO)
tetraphene  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
troglitazone  (EXP)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
blood coagulation  (TAS)
cell differentiation  (ISO)
cell differentiation in hindbrain  (IEA,ISO)
cell fate commitment  (IBA)
cell fate determination  (IEA,ISO)
cell maturation  (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)
GABAergic neuron differentiation  (IEA,ISO)
hemopoiesis  (IEA)
homeostasis of number of cells within a tissue  (IEA,ISO)
inner ear morphogenesis  (IEA,ISO)
negative regulation of endothelial cell apoptotic process  (IMP)
negative regulation of fat cell differentiation  (IMP,ISO)
negative regulation of fat cell proliferation  (IMP)
negative regulation of gene expression  (IMP)
negative regulation of macrophage differentiation  (IEA,ISO)
negative regulation of myeloid cell differentiation  (ISO)
negative regulation of neural precursor cell proliferation  (IDA,ISO)
negative regulation of Notch signaling pathway  (IDA)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
neuron differentiation  (ISO)
neuron fate commitment  (ISO)
neuron migration  (IEA,ISO)
phagocytosis  (IEA)
pituitary gland development  (IEA,ISO)
positive regulation of angiogenesis  (IBA,IDA,IMP,ISO)
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 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 neuron differentiation  (IEA,ISO)
positive regulation of phagocytosis  (ISO,ISS)
positive regulation of phagocytosis, engulfment  (IEA,ISO)
positive regulation of pri-miRNA transcription by RNA polymerase II  (IBA,IDA,IGI)
positive regulation of transcription by RNA polymerase II  (IDA,IGI,IMP,ISO)
regulation of forebrain neuron differentiation  (IEA,ISO)
regulation of hematopoietic stem cell differentiation  (TAS)
regulation of histone acetylation  (IEA,ISO)
regulation of primitive erythrocyte differentiation  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IBA,IEA)
response to lipid  (IEA,ISO)
semicircular canal development  (IEA,ISO)
somatic stem cell population maintenance  (IEA,ISO)
urogenital system development  (IEA,ISO)
vascular wound healing  (IMP)
ventral spinal cord interneuron differentiation  (IEA,ISO)

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

Molecular Pathway Annotations     Click to see Annotation Detail View
References

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:25230694   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:30659233   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:32555368   PMID:32558139   PMID:32593672   PMID:32694731   PMID:33226740  


Genomics

Comparative Map Data
GATA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3128,479,427 - 128,493,185 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl3128,479,427 - 128,493,201 (-)EnsemblGRCh38hg38GRCh38
GRCh383128,479,422 - 128,493,201 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373128,198,265 - 128,212,030 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh373128,198,265 - 128,212,044 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363129,680,960 - 129,694,718 (-)NCBINCBI36hg18NCBI36
Build 343129,680,969 - 129,694,726NCBI
Celera3126,626,234 - 126,639,997 (-)NCBI
Cytogenetic Map3q21.3NCBI
HuRef3125,582,307 - 125,596,070 (-)NCBIHuRef
CHM1_13128,161,207 - 128,175,078 (-)NCBICHM1_1
Gata2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39688,170,873 - 88,184,014 (+)NCBIGRCm39mm39
GRCm38688,193,891 - 88,207,032 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl688,193,891 - 88,207,032 (+)EnsemblGRCm38mm10GRCm38
MGSCv37688,148,658 - 88,157,026 (+)NCBIGRCm37mm9NCBIm37
MGSCv36688,164,309 - 88,172,670 (+)NCBImm8
Celera690,136,051 - 90,144,243 (+)NCBICelera
Cytogenetic Map6D1NCBI
cM Map639.2NCBI
Gata2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24120,654,205 - 120,667,763 (+)NCBI
Rnor_6.0 Ensembl4120,133,713 - 120,142,488 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.04120,129,028 - 120,142,490 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.04185,369,926 - 185,383,944 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44122,279,753 - 122,288,528 (+)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.13132,890,508 - 132,899,035 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3132,890,508 - 132,899,035 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03125,526,537 - 125,535,649 (-)NCBIMhudiblu_PPA_v0panPan3
GATA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl202,473,912 - 2,480,991 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1202,472,251 - 2,488,380 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Gata2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936798406,258 - 414,785 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GATA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1371,984,063 - 71,997,622 (+)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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12252,549,112 - 52,562,911 (+)NCBI
ChlSab1.1 Ensembl2252,555,738 - 52,562,909 (+)Ensembl
Gata2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624961147,685 - 155,614 (+)NCBI

Position Markers
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

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.


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
  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
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3128,479,427 - 128,493,201 (-)Ensembl
RefSeq Acc Id: ENST00000430265   ⟹   ENSP00000400259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3128,480,146 - 128,487,916 (-)Ensembl
RefSeq Acc Id: ENST00000487848   ⟹   ENSP00000417074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3128,481,019 - 128,488,530 (-)Ensembl
RefSeq Acc Id: ENST00000489987
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3128,480,146 - 128,482,078 (-)Ensembl
RefSeq Acc Id: ENST00000492608   ⟹   ENSP00000418132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3128,486,148 - 128,490,648 (-)Ensembl
RefSeq Acc Id: ENST00000498200   ⟹   ENSP00000419532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3128,487,008 - 128,493,173 (-)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
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
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
Sequence:
Reference Sequences
RefSeq Acc Id: NP_116027   ⟸   NM_032638
- Peptide Label: isoform 1
- UniProtKB: P23769 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139133   ⟸   NM_001145661
- Peptide Label: isoform 1
- UniProtKB: P23769 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139134   ⟸   NM_001145662
- Peptide Label: isoform 2
- UniProtKB: P23769 (UniProtKB/Swiss-Prot)
- 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

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

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001145661.2(GATA2):c.872-5T>G single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000548492] Chr3:128484010 [GRCh38]
Chr3:128202853 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1128C>T (p.Tyr376=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000529797] Chr3:128481834 [GRCh38]
Chr3:128200677 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.1038C>T (p.Gly346=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000553013] Chr3:128481924 [GRCh38]
Chr3:128200767 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.65C>G (p.Pro22Arg) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000548083] Chr3:128486967 [GRCh38]
Chr3:128205810 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1187G>A (p.Arg396Gln) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000529588]|not provided [RCV000984830] Chr3:128481275 [GRCh38]
Chr3:128200118 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001145661.2(GATA2):c.1113C>T (p.Asn371=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000553793] Chr3:128481849 [GRCh38]
Chr3:128200692 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.1274C>T (p.Ser425Leu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000542992]|not provided [RCV000984833] Chr3:128481188 [GRCh38]
Chr3:128200031 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.176A>G (p.Tyr59Cys) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000525982] Chr3:128486856 [GRCh38]
Chr3:128205699 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1428G>A (p.Val476=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000526337] Chr3:128481034 [GRCh38]
Chr3:128199877 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.1(GATA2):c.-200_871+527del2032 deletion Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency [RCV000022564] Chr3:128485200..128487231 [GRCh38]
Chr3:128204043..128206074 [GRCh37]
Chr3:3q21
pathogenic
NM_001145661.2(GATA2):c.1084_1095del (p.Arg362_Asn365del) deletion Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency [RCV000022565] Chr3:128481867..128481878 [GRCh38]
Chr3:128200710..128200721 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001145661.2(GATA2):c.243delinsGC (p.Gly82fs) indel Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency [RCV000022566] Chr3:128486355 [GRCh38]
Chr3:128205198 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001145661.2(GATA2):c.599dup (p.Gly200_Ser201insTer) duplication Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency [RCV000022567]|not provided [RCV000984842] Chr3:128485998..128485999 [GRCh38]
Chr3:128204841..128204842 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001145661.2(GATA2):c.1018-1G>T single nucleotide variant Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency [RCV000022568] Chr3:128481945 [GRCh38]
Chr3:128200788 [GRCh37]
Chr3:3q21.3
pathogenic
NM_032638.5(GATA2):c.312_313dup (p.Leu105fs) duplication Lymphedema, primary, with myelodysplasia [RCV000022569] Chr3:128486284..128486285 [GRCh38]
Chr3:128205127..128205128 [GRCh37]
Chr3:3q21.3
pathogenic
NM_032638.5(GATA2):c.232dup (p.Arg78fs) duplication Lymphedema, primary, with myelodysplasia [RCV000022570] Chr3:128486365..128486366 [GRCh38]
Chr3:128205208..128205209 [GRCh37]
Chr3:3q21.3
pathogenic
NM_032638.5(GATA2):c.1065_1067del (p.Thr358del) deletion Myelodysplastic syndrome [RCV000022574] Chr3:128481895..128481897 [GRCh38]
Chr3:128200738..128200740 [GRCh37]
Chr3:3q21.3
risk factor
NM_001145661.2(GATA2):c.1232C>T (p.Ala411Val) single nucleotide variant Acute myeloid leukemia [RCV000765710]|Lymphedema, primary, with myelodysplasia [RCV000546615] Chr3:128481230 [GRCh38]
Chr3:128200073 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1019_1023delinsGCCTT (p.Ser340_Ala341delinsCysLeu) indel Lymphedema, primary, with myelodysplasia [RCV000527772] Chr3:128481939..128481943 [GRCh38]
Chr3:128200782..128200786 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1179C>G (p.Ile393Met) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000553311] Chr3:128481283 [GRCh38]
Chr3:128200126 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1329C>G (p.Leu443=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000525573] Chr3:128481133 [GRCh38]
Chr3:128199976 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.748C>T (p.Pro250Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000547722] Chr3:128485850 [GRCh38]
Chr3:128204693 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1192C>T (p.Arg398Trp) single nucleotide variant Acute myeloid leukemia [RCV000445214]|Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency [RCV000022559]|Leukemia, acute myeloid, susceptibility to [RCV000502442]|not provided [RCV000984831] Chr3:128481270 [GRCh38]
Chr3:128200113 [GRCh37]
Chr3:3q21.3
pathogenic|likely pathogenic
NM_001145661.2(GATA2):c.761C>T (p.Pro254Leu) single nucleotide variant Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency [RCV000022560] Chr3:128485837 [GRCh38]
Chr3:128204680 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) single nucleotide variant Acute myeloid leukemia [RCV000426616]|Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency [RCV000022561]|Leukemia, acute myeloid, susceptibility to [RCV000022563]|Lymphedema, primary, with myelodysplasia [RCV000706855]|Myelodysplastic syndrome [RCV000022562]|not provided [RCV000984820] Chr3:128481901 [GRCh38]
Chr3:128200744 [GRCh37]
Chr3:3q21.3
pathogenic|likely pathogenic|risk factor
NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000022571]|Lymphedema, primary, with myelodysplasia [RCV000812052]|not provided [RCV000984812] Chr3:128483868 [GRCh38]
Chr3:128202711 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001145661.2(GATA2):c.1117T>C (p.Cys373Arg) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000022572] Chr3:128481845 [GRCh38]
Chr3:128200688 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001145661.2(GATA2):c.1082G>T (p.Arg361Leu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000022573] Chr3:128481880 [GRCh38]
Chr3:128200723 [GRCh37]
Chr3:3q21.3
pathogenic
NM_032638.5(GATA2):c.189C>A (p.Pro63=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001211973] Chr3:128486843 [GRCh38]
Chr3:128205686 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1017+513_1017+540del deletion Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency [RCV000032787] Chr3:128483320..128483347 [GRCh38]
Chr3:128202163..128202190 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001145661.2(GATA2):c.371C>A (p.Thr124Lys) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000459028]|not specified [RCV000121146] Chr3:128486227 [GRCh38]
Chr3:128205070 [GRCh37]
Chr3:3q21.3
uncertain significance|not provided
NM_001145661.2(GATA2):c.481C>G (p.Pro161Ala) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000389010]|Lymphedema, primary, with myelodysplasia [RCV001079258]|none provided [RCV001282764]|not provided [RCV000232396]|not specified [RCV000121147] Chr3:128486117 [GRCh38]
Chr3:128204960 [GRCh37]
Chr3:3q21.3
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001145661.2(GATA2):c.748C>G (p.Pro250Ala) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000261596]|Lymphedema, primary, with myelodysplasia [RCV000459452]|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 Lymphedema, primary, with myelodysplasia [RCV000332089]|not specified [RCV000121149] Chr3:128486108 [GRCh38]
Chr3:128204951 [GRCh37]
Chr3:3q21.3
benign|likely benign|not provided
NM_001145661.2(GATA2):c.787G>A (p.Gly263Arg) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000707549]|not specified [RCV000121150] Chr3:128485811 [GRCh38]
Chr3:128204654 [GRCh37]
Chr3:3q21.3
uncertain significance|not provided
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_001145661.2(GATA2):c.1054T>C (p.Cys352Arg) single nucleotide variant Leukemia, acute myeloid, susceptibility to [RCV000194241] Chr3:128481908 [GRCh38]
Chr3:128200751 [GRCh37]
Chr3:3q21.3
likely pathogenic
NM_001145661.2(GATA2):c.1113C>A (p.Asn371Lys) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000197751] Chr3:128481849 [GRCh38]
Chr3:128200692 [GRCh37]
Chr3:3q21.3
likely pathogenic
NM_001145661.2(GATA2):c.1122_1125dup (p.Tyr376fs) duplication Lymphedema, primary, with myelodysplasia [RCV000199975] Chr3:128481836..128481837 [GRCh38]
Chr3:128200679..128200680 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001145661.2(GATA2):c.857C>T (p.Ala286Val) single nucleotide variant Leukemia, acute myeloid, susceptibility to [RCV000193630]|not provided [RCV000984851] Chr3:128485741 [GRCh38]
Chr3:128204584 [GRCh37]
Chr3:3q21.3
likely pathogenic|uncertain significance
NM_001145661.2(GATA2):c.1160_1168del (p.Thr387_Lys389del) deletion Lymphedema, primary, with myelodysplasia [RCV000545396] Chr3:128481294..128481302 [GRCh38]
Chr3:128200137..128200145 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1021_1024dup (p.Ala342fs) duplication Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency [RCV000210903]|Lymphedema, primary, with myelodysplasia [RCV000704724] Chr3:128481937..128481938 [GRCh38]
Chr3:128200780..128200781 [GRCh37]
Chr3:3q21.3
pathogenic|likely pathogenic
NM_001145661.2(GATA2):c.255C>T (p.Cys85=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000543937] Chr3:128486343 [GRCh38]
Chr3:128205186 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.1017+8C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000227686]|Lymphedema, primary, with myelodysplasia [RCV000987324] Chr3:128483852 [GRCh38]
Chr3:128202695 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.279G>A (p.Pro93=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001079610]|not provided [RCV000228480] Chr3:128486319 [GRCh38]
Chr3:128205162 [GRCh37]
Chr3:3q21.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001145661.2(GATA2):c.142T>A (p.Phe48Ile) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000230807]|none provided [RCV001285370] Chr3:128486890 [GRCh38]
Chr3:128205733 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1359G>A (p.Leu453=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000231179] Chr3:128481103 [GRCh38]
Chr3:128199946 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.*183C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000232786]|Lymphedema, primary, with myelodysplasia [RCV000313820] Chr3:128480836 [GRCh38]
Chr3:128199679 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.121C>G (p.Pro41Ala) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001084371]|Lymphedema, primary, with myelodysplasia [RCV001146587]|not provided [RCV000227295]|not specified [RCV000504452] Chr3:128486911 [GRCh38]
Chr3:128205754 [GRCh37]
Chr3:3q21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001145661.2(GATA2):c.1144-6C>T single nucleotide variant not provided [RCV000233233] Chr3:128481324 [GRCh38]
Chr3:128200167 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.1410C>T (p.Pro470=) single nucleotide variant not provided [RCV000227756] Chr3:128481052 [GRCh38]
Chr3:128199895 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.182C>T (p.Ala61Val) single nucleotide variant Acute myeloid leukemia [RCV000765713]|Lymphedema, primary, with myelodysplasia [RCV000234722]|not provided [RCV000984835] Chr3:128486850 [GRCh38]
Chr3:128205693 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.136G>A (p.Asp46Asn) single nucleotide variant Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency [RCV001262682]|Lymphedema, primary, with myelodysplasia [RCV000233976] Chr3:128486896 [GRCh38]
Chr3:128205739 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1035C>G (p.Ala345=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001089071]|not provided [RCV000229328] Chr3:128481927 [GRCh38]
Chr3:128200770 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.363C>T (p.Phe121=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000545262] Chr3:128486235 [GRCh38]
Chr3:128205078 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.872-5T>C single nucleotide variant not provided [RCV000984852]|not specified [RCV000253398] Chr3:128484010 [GRCh38]
Chr3:128202853 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.*482C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000283592] Chr3:128480537 [GRCh38]
Chr3:128199380 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.*410C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000282617] Chr3:128480609 [GRCh38]
Chr3:128199452 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.564G>C (p.Thr188=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000279481]|Lymphedema, primary, with myelodysplasia [RCV000464938]|not specified [RCV000253740] Chr3:128486034 [GRCh38]
Chr3:128204877 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.480C>T (p.Thr160=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001080911]|not provided [RCV000466722]|not specified [RCV000254047] Chr3:128486118 [GRCh38]
Chr3:128204961 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.1023C>T (p.Ala341=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000550919]|Lymphedema, primary, with myelodysplasia [RCV001144641] Chr3:128481939 [GRCh38]
Chr3:128200782 [GRCh37]
Chr3:3q21.3
likely benign|uncertain significance
NM_001145661.2(GATA2):c.333C>T (p.His111=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001081434]|Lymphedema, primary, with myelodysplasia [RCV001146585]|not provided [RCV000469997]|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 Lymphedema, primary, with myelodysplasia [RCV000395196]|not specified [RCV000244510] Chr3:128487017 [GRCh38]
Chr3:128205860 [GRCh37]
Chr3:3q21.3
benign
NM_001145661.2(GATA2):c.*715G>A single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000271002] Chr3:128480304 [GRCh38]
Chr3:128199147 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.*546C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [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 Lymphedema, primary, with myelodysplasia [RCV000320406]|Lymphedema, primary, with myelodysplasia [RCV000461255]|none provided [RCV001282766]|not specified [RCV000252712] Chr3:128481229 [GRCh38]
Chr3:128200072 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.66C>G (p.Pro22=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001083133]|Lymphedema, primary, with myelodysplasia [RCV001147499]|not provided [RCV000463353]|not specified [RCV000245508] Chr3:128486966 [GRCh38]
Chr3:128205809 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.1018-19C>T single nucleotide variant not specified [RCV000247954] Chr3:128481963 [GRCh38]
Chr3:128200806 [GRCh37]
Chr3:3q21.3
benign
NM_001145661.2(GATA2):c.*1080G>A single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000277017] Chr3:128479939 [GRCh38]
Chr3:128198782 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.1380C>T (p.His460=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000550195] Chr3:128481082 [GRCh38]
Chr3:128199925 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.-5C>G single nucleotide variant not provided [RCV000984811]|not specified [RCV000243386] Chr3:128487036 [GRCh38]
Chr3:128205879 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.*1173G>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000298430] Chr3:128479846 [GRCh38]
Chr3:128198689 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.*174G>A single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000352865] Chr3:128480845 [GRCh38]
Chr3:128199688 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.*420G>A single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000374674] Chr3:128480599 [GRCh38]
Chr3:128199442 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.*1229A>G single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000398948] Chr3:128479790 [GRCh38]
Chr3:128198633 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.*200C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000335359] Chr3:128480819 [GRCh38]
Chr3:128199662 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.*190C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000400839] Chr3:128480829 [GRCh38]
Chr3:128199672 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.*570C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000380926] Chr3:128480449 [GRCh38]
Chr3:128199292 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.4(GATA2):c.-276T>G single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000304447]|not specified [RCV000503441] Chr3:128493129 [GRCh38]
Chr3:128211972 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.*427C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000341065] Chr3:128480592 [GRCh38]
Chr3:128199435 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.-5C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000291391] Chr3:128487036 [GRCh38]
Chr3:128205879 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.*508G>A single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000322755] Chr3:128480511 [GRCh38]
Chr3:128199354 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.*32C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000307127] Chr3:128480987 [GRCh38]
Chr3:128199830 [GRCh37]
Chr3:3q21.3
likely benign|uncertain significance
NM_001145661.2(GATA2):c.*24G>A single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000364233] Chr3:128480995 [GRCh38]
Chr3:128199838 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_032638.4(GATA2):c.-46+13C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000390200] Chr3:128492886 [GRCh38]
Chr3:128211729 [GRCh37]
Chr3:3q21.3
likely benign|uncertain significance
NM_001145661.2(GATA2):c.*697C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000328654] Chr3:128480322 [GRCh38]
Chr3:128199165 [GRCh37]
Chr3:3q21.3
likely benign|uncertain significance
NM_001145661.2(GATA2):c.*882T>A single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000368151] Chr3:128480137 [GRCh38]
Chr3:128198980 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.114G>A (p.Gln38=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000349736]|Lymphedema, primary, with myelodysplasia [RCV000476879] Chr3:128486918 [GRCh38]
Chr3:128205761 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.710G>A (p.Gly237Asp) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000371671]|Lymphedema, primary, with myelodysplasia [RCV000535107]|not specified [RCV000499900] Chr3:128485888 [GRCh38]
Chr3:128204731 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.*94C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000313113] Chr3:128480925 [GRCh38]
Chr3:128199768 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.1326C>T (p.His442=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000267304]|Lymphedema, primary, with myelodysplasia [RCV000549350] Chr3:128481136 [GRCh38]
Chr3:128199979 [GRCh37]
Chr3:3q21.3
likely benign|uncertain significance
NM_001145661.2(GATA2):c.*479_*481CTC[1] microsatellite Lymphedema, primary, with myelodysplasia [RCV000380465] Chr3:128480535..128480537 [GRCh38]
Chr3:128199378..128199380 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.4(GATA2):c.-180C>A single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000303376] Chr3:128493033 [GRCh38]
Chr3:128211876 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.*101G>A single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000400584] Chr3:128480918 [GRCh38]
Chr3:128199761 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.204G>T (p.Ala68=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000292485]|Lymphedema, primary, with myelodysplasia [RCV000935383] Chr3:128486828 [GRCh38]
Chr3:128205671 [GRCh37]
Chr3:3q21.3
likely benign|uncertain significance
NM_001145661.2(GATA2):c.*84A>G single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000365452] Chr3:128480935 [GRCh38]
Chr3:128199778 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.815G>A (p.Gly272Glu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000528406] Chr3:128485783 [GRCh38]
Chr3:128204626 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.724A>G (p.Thr242Ala) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000319083]|Lymphedema, primary, with myelodysplasia [RCV000822691] Chr3:128485874 [GRCh38]
Chr3:128204717 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.*1144G>A single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000369477] Chr3:128479875 [GRCh38]
Chr3:128198718 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.4(GATA2):c.-215C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000408306] Chr3:128493068 [GRCh38]
Chr3:128211911 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.*1543T>C single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000338144] Chr3:128479476 [GRCh38]
Chr3:128198319 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.*884A>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000311107] Chr3:128480135 [GRCh38]
Chr3:128198978 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.*73C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000393744] Chr3:128480946 [GRCh38]
Chr3:128199789 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.*1544A>G single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000299662] Chr3:128479475 [GRCh38]
Chr3:128198318 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.4(GATA2):c.-193C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000358084] Chr3:128493046 [GRCh38]
Chr3:128211889 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.800C>T (p.Pro267Leu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000358864] Chr3:128485798 [GRCh38]
Chr3:128204641 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.-42C>G single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000344031] Chr3:128487073 [GRCh38]
Chr3:128205916 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.345dup (p.Trp116fs) duplication not provided [RCV000599375] Chr3:128486252..128486253 [GRCh38]
Chr3:128205095..128205096 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001145661.2(GATA2):c.1081C>T (p.Arg361Cys) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000528994]|not provided [RCV000984821] Chr3:128481881 [GRCh38]
Chr3:128200724 [GRCh37]
Chr3:3q21.3
likely pathogenic
NM_001145661.2(GATA2):c.30G>T (p.Trp10Cys) single nucleotide variant Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency [RCV001007609]|Lymphedema, primary, with myelodysplasia [RCV000551947] Chr3:128487002 [GRCh38]
Chr3:128205845 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.311C>T (p.Ala104Val) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000532650] Chr3:128486287 [GRCh38]
Chr3:128205130 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1320G>A (p.Val440=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000536849] Chr3:128481142 [GRCh38]
Chr3:128199985 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1302T>G (p.Ala434=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000559956] Chr3:128481160 [GRCh38]
Chr3:128200003 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.153C>T (p.His51=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000538909] Chr3:128486879 [GRCh38]
Chr3:128205722 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.1263G>A (p.Met421Ile) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000558730] Chr3:128481199 [GRCh38]
Chr3:128200042 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.177C>T (p.Tyr59=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000538541] Chr3:128486855 [GRCh38]
Chr3:128205698 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.16G>A (p.Glu6Lys) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000556049] Chr3:128487016 [GRCh38]
Chr3:128205859 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.230-12_230-9del deletion Lymphedema, primary, with myelodysplasia [RCV000459010] Chr3:128486377..128486380 [GRCh38]
Chr3:128205220..128205223 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.1160C>A (p.Thr387Asn) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000459207] Chr3:128481302 [GRCh38]
Chr3:128200145 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1367C>T (p.Pro456Leu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000466735] Chr3:128481095 [GRCh38]
Chr3:128199938 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1347C>A (p.Ser449=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000466788]|Lymphedema, primary, with myelodysplasia [RCV001150745] Chr3:128481115 [GRCh38]
Chr3:128199958 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.375A>C (p.Pro125=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000466822] Chr3:128486223 [GRCh38]
Chr3:128205066 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.669G>A (p.Met223Ile) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000470368] Chr3:128485929 [GRCh38]
Chr3:128204772 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.792C>T (p.Leu264=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000470438] Chr3:128485806 [GRCh38]
Chr3:128204649 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.213C>T (p.Ser71=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000474283] Chr3:128486819 [GRCh38]
Chr3:128205662 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.682C>A (p.Pro228Thr) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000463273] Chr3:128485916 [GRCh38]
Chr3:128204759 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.299_300delinsTT (p.Gly100Val) indel Lymphedema, primary, with myelodysplasia [RCV000466926]|not specified [RCV000500768] Chr3:128486298..128486299 [GRCh38]
Chr3:128205141..128205142 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1018-5C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000474442] Chr3:128481949 [GRCh38]
Chr3:128200792 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.732C>T (p.His244=) single nucleotide variant not provided [RCV000464429] Chr3:128485866 [GRCh38]
Chr3:128204709 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.1286G>C (p.Ser429Thr) single nucleotide variant Acute myeloid leukemia [RCV000765709]|Lymphedema, primary, with myelodysplasia [RCV000463544]|Lymphedema, primary, with myelodysplasia [RCV001150746]|not specified [RCV000502835] Chr3:128481176 [GRCh38]
Chr3:128200019 [GRCh37]
Chr3:3q21.3
likely benign|uncertain significance
NM_001145661.2(GATA2):c.1173A>G (p.Glu391=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000467235] Chr3:128481289 [GRCh38]
Chr3:128200132 [GRCh37]
Chr3:3q21.3
benign
NM_001145661.2(GATA2):c.1024G>T (p.Ala342Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000459902] Chr3:128481938 [GRCh38]
Chr3:128200781 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1185T>C (p.Thr395=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000463795] Chr3:128481277 [GRCh38]
Chr3:128200120 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.616G>C (p.Glu206Gln) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000467411] Chr3:128485982 [GRCh38]
Chr3:128204825 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.156C>G (p.Leu52=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000474893] Chr3:128486876 [GRCh38]
Chr3:128205719 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.1282T>A (p.Phe428Ile) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000475187] Chr3:128481180 [GRCh38]
Chr3:128200023 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.423C>T (p.Tyr141=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000460167] Chr3:128486175 [GRCh38]
Chr3:128205018 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.628G>A (p.Gly210Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000464423] Chr3:128485970 [GRCh38]
Chr3:128204813 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.42G>T (p.Pro14=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000468242]|Lymphedema, primary, with myelodysplasia [RCV001147500]|none provided [RCV001287104] Chr3:128486990 [GRCh38]
Chr3:128205833 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.755A>G (p.Tyr252Cys) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000471971] Chr3:128485843 [GRCh38]
Chr3:128204686 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1200G>A (p.Met400Ile) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000468485] Chr3:128481262 [GRCh38]
Chr3:128200105 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.573G>A (p.Ala191=) single nucleotide variant not provided [RCV000472233] Chr3:128486025 [GRCh38]
Chr3:128204868 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.1075T>G (p.Leu359Val) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000457272] Chr3:128481887 [GRCh38]
Chr3:128200730 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1386C>T (p.Ser462=) single nucleotide variant not provided [RCV000457376] Chr3:128481076 [GRCh38]
Chr3:128199919 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.1144-10T>C single nucleotide variant not provided [RCV000465019] Chr3:128481328 [GRCh38]
Chr3:128200171 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.541G>A (p.Val181Met) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000468681] Chr3:128486057 [GRCh38]
Chr3:128204900 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1095C>T (p.Asn365=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000476240] Chr3:128481867 [GRCh38]
Chr3:128200710 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.707T>C (p.Met236Thr) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000457631]|not provided [RCV000984847] Chr3:128485891 [GRCh38]
Chr3:128204734 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.242G>C (p.Gly81Ala) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000461461] Chr3:128486356 [GRCh38]
Chr3:128205199 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1035C>T (p.Ala345=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000457805]|not specified [RCV000501563] Chr3:128481927 [GRCh38]
Chr3:128200770 [GRCh37]
Chr3:3q21.3
likely benign|uncertain significance
NM_001145661.2(GATA2):c.1064C>A (p.Thr355Lys) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000472737] Chr3:128481898 [GRCh38]
Chr3:128200741 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1416G>A (p.Pro472=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000472901]|Lymphedema, primary, with myelodysplasia [RCV001150744] Chr3:128481046 [GRCh38]
Chr3:128199889 [GRCh37]
Chr3:3q21.3
benign|likely benign|uncertain significance
NM_001145661.2(GATA2):c.63C>T (p.His21=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000476857] Chr3:128486969 [GRCh38]
Chr3:128205812 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.639C>T (p.Tyr213=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000458319] Chr3:128485959 [GRCh38]
Chr3:128204802 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.445G>A (p.Gly149Arg) single nucleotide variant Acute myeloid leukemia [RCV000765712]|Lymphedema, primary, with myelodysplasia [RCV000458357] Chr3:128486153 [GRCh38]
Chr3:128204996 [GRCh37]
Chr3:3q21.3
likely benign|uncertain significance
NM_001145661.2(GATA2):c.1348G>A (p.Gly450Arg) single nucleotide variant Acute myeloid leukemia [RCV000765708]|Lymphedema, primary, with myelodysplasia [RCV000473249] Chr3:128481114 [GRCh38]
Chr3:128199957 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1391G>T (p.Ser464Ile) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000473302] Chr3:128481071 [GRCh38]
Chr3:128199914 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.631G>C (p.Val211Leu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000477162] Chr3:128485967 [GRCh38]
Chr3:128204810 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1431C>T (p.Thr477=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000458399] Chr3:128481031 [GRCh38]
Chr3:128199874 [GRCh37]
Chr3:3q21.3
benign
NM_001145661.2(GATA2):c.310G>T (p.Ala104Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000462487] Chr3:128486288 [GRCh38]
Chr3:128205131 [GRCh37]
Chr3:3q21.3
uncertain significance
NC_000003.12:g.(?_128479422)_(128487076_?)del deletion Lymphedema, primary, with myelodysplasia [RCV000466360] Chr3:128479422..128487076 [GRCh38]
Chr3:128198265..128205919 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001145661.2(GATA2):c.413T>C (p.Leu138Pro) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000473843]|Lymphedema, primary, with myelodysplasia [RCV001146583] Chr3:128486185 [GRCh38]
Chr3:128205028 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.23C>A (p.Pro8Gln) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000531890] Chr3:128487009 [GRCh38]
Chr3:128205852 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.4(GATA2):c.-106T>G single nucleotide variant not specified [RCV000501977] Chr3:128492959 [GRCh38]
Chr3:128211802 [GRCh37]
Chr3:3q21.3
benign|uncertain significance
NM_001145661.2(GATA2):c.1081C>G (p.Arg361Gly) single nucleotide variant Leukemia, acute myeloid, susceptibility to [RCV000500143] Chr3:128481881 [GRCh38]
Chr3:128200724 [GRCh37]
Chr3:3q21.3
likely pathogenic
NM_001145661.2(GATA2):c.829A>G (p.Ser277Gly) single nucleotide variant Acute myeloid leukemia [RCV000765711]|Lymphedema, primary, with myelodysplasia [RCV000540993]|not provided [RCV001200274]|not specified [RCV000502247] Chr3:128485769 [GRCh38]
Chr3:128204612 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1084C>T (p.Arg362Ter) single nucleotide variant Leukemia, acute myeloid, susceptibility to [RCV000504503]|Lymphedema, primary, with myelodysplasia [RCV000987321]|not provided [RCV000984822] Chr3:128481878 [GRCh38]
Chr3:128200721 [GRCh37]
Chr3:3q21.3
pathogenic|likely pathogenic
NM_001145661.2(GATA2):c.1407C>A (p.His469Gln) single nucleotide variant not specified [RCV000500353] Chr3:128481055 [GRCh38]
Chr3:128199898 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.4(GATA2):c.-54C>T single nucleotide variant not specified [RCV000500402] Chr3:128492907 [GRCh38]
Chr3:128211750 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001145661.2(GATA2):c.1017+485A>T single nucleotide variant not specified [RCV000503021] Chr3:128483375 [GRCh38]
Chr3:128202218 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.657G>A (p.Glu219=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000547181] Chr3:128485941 [GRCh38]
Chr3:128204784 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.1372C>T (p.Pro458Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000538147] Chr3:128481090 [GRCh38]
Chr3:128199933 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.560C>G (p.Thr187Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000534566] Chr3:128486038 [GRCh38]
Chr3:128204881 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1273T>C (p.Ser425Pro) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000534788] Chr3:128481189 [GRCh38]
Chr3:128200032 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1025C>T (p.Ala342Val) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000540223] Chr3:128481937 [GRCh38]
Chr3:128200780 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.596G>T (p.Gly199Val) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000559731] Chr3:128486002 [GRCh38]
Chr3:128204845 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.108C>G (p.Pro36=) single nucleotide variant Lymphedema, primary, with myelodysplasia [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_001145661.2(GATA2):c.208G>T (p.Val70Phe) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000555700] Chr3:128486824 [GRCh38]
Chr3:128205667 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.526A>C (p.Thr176Pro) single nucleotide variant Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency [RCV000601326] Chr3:128486072 [GRCh38]
Chr3:128204915 [GRCh37]
Chr3:3q21.3
likely pathogenic
NM_001145661.2(GATA2):c.139G>A (p.Val47Ile) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649491] Chr3:128486893 [GRCh38]
Chr3:128205736 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1248G>C (p.Glu416Asp) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649492] Chr3:128481214 [GRCh38]
Chr3:128200057 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.649_653dup (p.Glu219_Ser220insTer) duplication Lymphedema, primary, with myelodysplasia [RCV000649493]|not provided [RCV000984844] Chr3:128485944..128485945 [GRCh38]
Chr3:128204787..128204788 [GRCh37]
Chr3:3q21.3
pathogenic|likely pathogenic
NM_001145661.2(GATA2):c.45C>G (p.Ala15=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649494] Chr3:128486987 [GRCh38]
Chr3:128205830 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.625G>A (p.Asp209Asn) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649495] Chr3:128485973 [GRCh38]
Chr3:128204816 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.593C>T (p.Ala198Val) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649496] Chr3:128486005 [GRCh38]
Chr3:128204848 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1243G>A (p.Glu415Lys) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649497] Chr3:128481219 [GRCh38]
Chr3:128200062 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1230G>T (p.Gly410=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649498]|Lymphedema, primary, with myelodysplasia [RCV001150747]|not provided [RCV000984832] Chr3:128481232 [GRCh38]
Chr3:128200075 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.50T>A (p.Leu17Gln) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649499] Chr3:128486982 [GRCh38]
Chr3:128205825 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.302G>A (p.Gly101Asp) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649500] Chr3:128486296 [GRCh38]
Chr3:128205139 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.84C>T (p.Gly28=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649501] Chr3:128486948 [GRCh38]
Chr3:128205791 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.706A>G (p.Met236Val) single nucleotide variant Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency [RCV000853226]|Lymphedema, primary, with myelodysplasia [RCV000649502] Chr3:128485892 [GRCh38]
Chr3:128204735 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1020G>A (p.Ser340=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649503] Chr3:128481942 [GRCh38]
Chr3:128200785 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.629_631dup (p.Gly210dup) duplication Lymphedema, primary, with myelodysplasia [RCV000649504] Chr3:128485966..128485967 [GRCh38]
Chr3:128204809..128204810 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1029A>G (p.Arg343=) single nucleotide variant not provided [RCV000649505] Chr3:128481933 [GRCh38]
Chr3:128200776 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.729C>T (p.His243=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649506] Chr3:128485869 [GRCh38]
Chr3:128204712 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.1143+203A>G single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649507] Chr3:128481616 [GRCh38]
Chr3:128200459 [GRCh37]
Chr3:3q21.3
benign
NM_001145661.2(GATA2):c.1143+9G>A single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001084318]|not provided [RCV000649508] Chr3:128481810 [GRCh38]
Chr3:128200653 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.279G>T (p.Pro93=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649509] Chr3:128486319 [GRCh38]
Chr3:128205162 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.888C>T (p.Val296=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649510] Chr3:128483989 [GRCh38]
Chr3:128202832 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.801C>T (p.Pro267=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649511] Chr3:128485797 [GRCh38]
Chr3:128204640 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.684C>T (p.Pro228=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649512] Chr3:128485914 [GRCh38]
Chr3:128204757 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.927C>T (p.Asp309=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649513] Chr3:128483950 [GRCh38]
Chr3:128202793 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.933C>T (p.Thr311=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000649514] Chr3:128483944 [GRCh38]
Chr3:128202787 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.674G>A (p.Ser225Asn) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000560625] Chr3:128485924 [GRCh38]
Chr3:128204767 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.649C>T (p.Leu217=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000535347] Chr3:128485949 [GRCh38]
Chr3:128204792 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.492C>A (p.Ala164=) single nucleotide variant not provided [RCV000558366] Chr3:128486106 [GRCh38]
Chr3:128204949 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.971A>G (p.Lys324Arg) single nucleotide variant Anemia [RCV000626766]|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_001145661.2(GATA2):c.890_903dup (p.Ala302fs) duplication Lymphedema, primary, with myelodysplasia [RCV000686956] Chr3:128483973..128483974 [GRCh38]
Chr3:128202816..128202817 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001145661.2(GATA2):c.1017+527G>A single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000685305] Chr3:128483333 [GRCh38]
Chr3:128202176 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.729C>G (p.His243Gln) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000700500] Chr3:128485869 [GRCh38]
Chr3:128204712 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.224C>G (p.Ala75Gly) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000700771] Chr3:128486808 [GRCh38]
Chr3:128205651 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1017+572C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000686407]|not provided [RCV000984814] Chr3:128483288 [GRCh38]
Chr3:128202131 [GRCh37]
Chr3:3q21.3
pathogenic|likely pathogenic
NM_001145661.2(GATA2):c.818G>T (p.Gly273Val) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000686517] Chr3:128485780 [GRCh38]
Chr3:128204623 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.920G>A (p.Arg307Gln) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000689886] Chr3:128483957 [GRCh38]
Chr3:128202800 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1385C>A (p.Ser462Tyr) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000704488] Chr3:128481077 [GRCh38]
Chr3:128199920 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.575C>T (p.Ser192Phe) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000690733] Chr3:128486023 [GRCh38]
Chr3:128204866 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.654G>A (p.Thr218=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000707579] Chr3:128485944 [GRCh38]
Chr3:128204787 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.481C>T (p.Pro161Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000688241] Chr3:128486117 [GRCh38]
Chr3:128204960 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.70_71insTGT (p.Ser24_His25insLeu) insertion Lymphedema, primary, with myelodysplasia [RCV000706249] Chr3:128486961..128486962 [GRCh38]
Chr3:128205804..128205805 [GRCh37]
Chr3:3q21.3
uncertain significance
NC_000003.11:g.(?_128202693)_(128205884_?)dup duplication Lymphedema, primary, with myelodysplasia [RCV000708374] Chr3:128483850..128487041 [GRCh38]
Chr3:128202693..128205884 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.532C>T (p.Pro178Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000703954] Chr3:128486066 [GRCh38]
Chr3:128204909 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.860G>A (p.Arg287His) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000694812] Chr3:128485738 [GRCh38]
Chr3:128204581 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.761C>G (p.Pro254Arg) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000694952] Chr3:128485837 [GRCh38]
Chr3:128204680 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1236G>T (p.Glu412Asp) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000687942] Chr3:128481226 [GRCh38]
Chr3:128200069 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.743C>T (p.Thr248Ile) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000695588] Chr3:128485855 [GRCh38]
Chr3:128204698 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1036G>A (p.Gly346Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000704865] Chr3:128481926 [GRCh38]
Chr3:128200769 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1144G>T (p.Val382Phe) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000703003] Chr3:128481318 [GRCh38]
Chr3:128200161 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1402G>A (p.Gly468Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000696156] Chr3:128481060 [GRCh38]
Chr3:128199903 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1331C>T (p.Pro444Leu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000696199] Chr3:128481131 [GRCh38]
Chr3:128199974 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.661A>C (p.Met221Leu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000700032]|Lymphedema, primary, with myelodysplasia [RCV000987326] Chr3:128485937 [GRCh38]
Chr3:128204780 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1370C>T (p.Thr457Met) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000691681] Chr3:128481092 [GRCh38]
Chr3:128199935 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.818dup (p.Pro274fs) duplication Lymphedema, primary, with myelodysplasia [RCV000696729] Chr3:128485779..128485780 [GRCh38]
Chr3:128204622..128204623 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001145661.2(GATA2):c.1121G>A (p.Gly374Asp) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000696775] Chr3:128481841 [GRCh38]
Chr3:128200684 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.59A>C (p.Gln20Pro) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000697049] Chr3:128486973 [GRCh38]
Chr3:128205816 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.469G>T (p.Ala157Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000687105] Chr3:128486129 [GRCh38]
Chr3:128204972 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.456C>A (p.Ser152Arg) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000703776] Chr3:128486142 [GRCh38]
Chr3:128204985 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.523C>T (p.Pro175Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000806188] Chr3:128486075 [GRCh38]
Chr3:128204918 [GRCh37]
Chr3:3q21.3
uncertain significance
NC_000003.12:g.(?_128486793)_(128487041_?)del deletion Lymphedema, primary, with myelodysplasia [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 Lymphedema, primary, with myelodysplasia [RCV000960092] Chr3:128481115 [GRCh38]
Chr3:128199958 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.279G>C (p.Pro93=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000869672] Chr3:128486319 [GRCh38]
Chr3:128205162 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.822G>A (p.Pro274=) single nucleotide variant not provided [RCV000919004] Chr3:128485776 [GRCh38]
Chr3:128204619 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.468G>A (p.Val156=) single nucleotide variant not provided [RCV000871903] Chr3:128486130 [GRCh38]
Chr3:128204973 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.1085G>A (p.Arg362Gln) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000761281] Chr3:128481877 [GRCh38]
Chr3:128200720 [GRCh37]
Chr3:3q21.3
likely pathogenic
NM_032638.5(GATA2):c.839del (p.Pro280fs) deletion Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency [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 not provided [RCV000984837] Chr3:128486189..128486193 [GRCh38]
Chr3:128205032..128205036 [GRCh37]
Chr3:3q21.3
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 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 not provided [RCV000984849] Chr3:128485796 [GRCh38]
Chr3:128204639 [GRCh37]
Chr3:3q21.3
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 not provided [RCV000900539] Chr3:128486181 [GRCh38]
Chr3:128205024 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.1018-6_1018-3dup duplication Lymphedema, primary, with myelodysplasia [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 Lymphedema, primary, with myelodysplasia [RCV000951447] Chr3:128481091 [GRCh38]
Chr3:128199934 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.381C>T (p.His127=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000868417] Chr3:128486217 [GRCh38]
Chr3:128205060 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.372G>A (p.Thr124=) single nucleotide variant not provided [RCV000945293] Chr3:128486226 [GRCh38]
Chr3:128205069 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.1323C>T (p.Gly441=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000944080] Chr3:128481139 [GRCh38]
Chr3:128199982 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.867T>C (p.Cys289=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000946231] Chr3:128485731 [GRCh38]
Chr3:128204574 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.756T>C (p.Tyr252=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000877968] Chr3:128485842 [GRCh38]
Chr3:128204685 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.189C>T (p.Pro63=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001081557]|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 Lymphedema, primary, with myelodysplasia [RCV000866168] Chr3:128481061 [GRCh38]
Chr3:128199904 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.733C>T (p.Pro245Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001055009] Chr3:128485865 [GRCh38]
Chr3:128204708 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.571G>A (p.Ala191Thr) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001058572] Chr3:128486027 [GRCh38]
Chr3:128204870 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.224C>T (p.Ala75Val) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001061948] Chr3:128486808 [GRCh38]
Chr3:128205651 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.790C>T (p.Leu264Phe) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001062048] Chr3:128485808 [GRCh38]
Chr3:128204651 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.722C>T (p.Ala241Val) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001051492] Chr3:128485876 [GRCh38]
Chr3:128204719 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.719C>T (p.Pro240Leu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001042615] Chr3:128485879 [GRCh38]
Chr3:128204722 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.1083_1085dup (p.Arg362dup) duplication Lymphedema, primary, with myelodysplasia [RCV001069965] Chr3:128481876..128481877 [GRCh38]
Chr3:128200719..128200720 [GRCh37]
Chr3:3q21.3
uncertain significance
NC_000003.12:g.(?_128481009)_(128487041_?)dup duplication Lymphedema, primary, with myelodysplasia [RCV001032427] Chr3:128199852..128205884 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.1206C>T (p.Asn402=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000869801] Chr3:128481256 [GRCh38]
Chr3:128200099 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.383C>T (p.Pro128Leu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001060446] Chr3:128486215 [GRCh38]
Chr3:128205058 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.8T>C (p.Val3Ala) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001036387] Chr3:128487024 [GRCh38]
Chr3:128205867 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.46G>A (p.Val16Met) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001038330] Chr3:128486986 [GRCh38]
Chr3:128205829 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.121C>T (p.Pro41Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001052565] Chr3:128486911 [GRCh38]
Chr3:128205754 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.1040_1041delinsAT (p.Thr347Asn) indel Lymphedema, primary, with myelodysplasia [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 Lymphedema, primary, with myelodysplasia [RCV001050933] Chr3:128486969 [GRCh38]
Chr3:128205812 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1423A>T (p.Met475Leu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000806325] Chr3:128481039 [GRCh38]
Chr3:128199882 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.945G>C (p.Leu315=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000878265] Chr3:128483932 [GRCh38]
Chr3:128202775 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.966C>T (p.Tyr322=) single nucleotide variant not provided [RCV000902759] Chr3:128483911 [GRCh38]
Chr3:128202754 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.123T>C (p.Pro41=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000872857] Chr3:128486909 [GRCh38]
Chr3:128205752 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.1017+518T>G single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000867650] Chr3:128483342 [GRCh38]
Chr3:128202185 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.222C>T (p.Pro74=) single nucleotide variant not provided [RCV000944621] Chr3:128486810 [GRCh38]
Chr3:128205653 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.1017+525C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000870029] Chr3:128483335 [GRCh38]
Chr3:128202178 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.1332G>A (p.Pro444=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000870363] Chr3:128481130 [GRCh38]
Chr3:128199973 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.315C>G (p.Leu105=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001146586]|not provided [RCV000939664] 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 not provided [RCV000874128] Chr3:128481091 [GRCh38]
Chr3:128199934 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp) single nucleotide variant not provided [RCV000984829] Chr3:128481276 [GRCh38]
Chr3:128200119 [GRCh37]
Chr3:3q21.3
pathogenic
NM_032638.5(GATA2):c.1339A>C (p.Ser447Arg) single nucleotide variant not provided [RCV000984834] Chr3:128481123 [GRCh38]
Chr3:128199966 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.229+127C>T single nucleotide variant 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 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 Lymphedema, primary, with myelodysplasia [RCV000872462] Chr3:128486849 [GRCh38]
Chr3:128205692 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.1017+9G>C single nucleotide variant not provided [RCV000919163] Chr3:128483851 [GRCh38]
Chr3:128202694 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.42G>A (p.Pro14=) single nucleotide variant not provided [RCV000963591] Chr3:128486990 [GRCh38]
Chr3:128205833 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.1143+8C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000869238] Chr3:128481811 [GRCh38]
Chr3:128200654 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.872-9C>A single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000922070] Chr3:128484014 [GRCh38]
Chr3:128202857 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.174C>A (p.Pro58=) single nucleotide variant not provided [RCV000869496] Chr3:128486858 [GRCh38]
Chr3:128205701 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.66C>T (p.Pro22=) single nucleotide variant not provided [RCV000937708] Chr3:128486966 [GRCh38]
Chr3:128205809 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.1312G>T (p.Ala438Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000815723] Chr3:128481150 [GRCh38]
Chr3:128199993 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.425C>T (p.Pro142Leu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000820962] Chr3:128486173 [GRCh38]
Chr3:128205016 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.627C>T (p.Asp209=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000871774] Chr3:128485971 [GRCh38]
Chr3:128204814 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.809T>G (p.Phe270Cys) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000813214] Chr3:128485789 [GRCh38]
Chr3:128204632 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.832T>A (p.Phe278Ile) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000796875] Chr3:128485766 [GRCh38]
Chr3:128204609 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.160T>G (p.Ser54Ala) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000813253] Chr3:128486872 [GRCh38]
Chr3:128205715 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1217A>T (p.Lys406Met) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000799484] Chr3:128481245 [GRCh38]
Chr3:128200088 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.409C>T (p.Pro137Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000814315] Chr3:128486189 [GRCh38]
Chr3:128205032 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.852C>T (p.Ser284=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000819346] Chr3:128485746 [GRCh38]
Chr3:128204589 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1017+513G>A single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000803054] Chr3:128483347 [GRCh38]
Chr3:128202190 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.40C>T (p.Pro14Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000807890] Chr3:128486992 [GRCh38]
Chr3:128205835 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.206G>A (p.Arg69His) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000805266] Chr3:128486826 [GRCh38]
Chr3:128205669 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.338A>G (p.His113Arg) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000824630] Chr3:128486260 [GRCh38]
Chr3:128205103 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.101T>C (p.Met34Thr) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000808230] Chr3:128486931 [GRCh38]
Chr3:128205774 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.504C>T (p.Ser168=) single nucleotide variant not provided [RCV000936523] Chr3:128486094 [GRCh38]
Chr3:128204937 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000987322] Chr3:128481916 [GRCh38]
Chr3:128200759 [GRCh37]
Chr3:3q21.3
likely pathogenic
NM_001145661.2(GATA2):c.1024G>A (p.Ala342Thr) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000808036] Chr3:128481938 [GRCh38]
Chr3:128200781 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.455G>A (p.Ser152Asn) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000805646] Chr3:128486143 [GRCh38]
Chr3:128204986 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.397G>A (p.Gly133Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000792100] Chr3:128486201 [GRCh38]
Chr3:128205044 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1232C>A (p.Ala411Glu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000796362] Chr3:128481230 [GRCh38]
Chr3:128200073 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.76C>A (p.His26Asn) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000818581] Chr3:128486956 [GRCh38]
Chr3:128205799 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.592G>A (p.Ala198Thr) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000803972] Chr3:128486006 [GRCh38]
Chr3:128204849 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.689G>A (p.Arg230His) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000817105] Chr3:128485909 [GRCh38]
Chr3:128204752 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.90G>C (p.Ala30=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000870134] Chr3:128486942 [GRCh38]
Chr3:128205785 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.1134G>A (p.Lys378=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000937653] Chr3:128481828 [GRCh38]
Chr3:128200671 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.15_16delinsGC (p.Glu6Gln) indel Lymphedema, primary, with myelodysplasia [RCV000812513] Chr3:128487016..128487017 [GRCh38]
Chr3:128205859..128205860 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.803G>T (p.Gly268Val) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000797080] Chr3:128485795 [GRCh38]
Chr3:128204638 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.988C>T (p.Arg330Ter) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000793168] Chr3:128483889 [GRCh38]
Chr3:128202732 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001145661.2(GATA2):c.11C>A (p.Ala4Glu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000803337] Chr3:128487021 [GRCh38]
Chr3:128205864 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1300G>C (p.Ala434Pro) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000812311] Chr3:128481162 [GRCh38]
Chr3:128200005 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.149A>G (p.Asn50Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000799547] Chr3:128486883 [GRCh38]
Chr3:128205726 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1023_1038dup (p.Thr347fs) duplication not provided [RCV000788787] Chr3:128481923..128481924 [GRCh38]
Chr3:128200766..128200767 [GRCh37]
Chr3:3q21.3
likely pathogenic
NM_001145661.2(GATA2):c.28T>C (p.Trp10Arg) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000813153] Chr3:128487004 [GRCh38]
Chr3:128205847 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.494A>T (p.His165Leu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000813428] Chr3:128486104 [GRCh38]
Chr3:128204947 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.953_977dup (p.Gly327fs) duplication not provided [RCV000788382] Chr3:128483899..128483900 [GRCh38]
Chr3:128202742..128202743 [GRCh37]
Chr3:3q21.3
likely pathogenic
NM_001145661.2(GATA2):c.495C>A (p.His165Gln) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000813612] Chr3:128486103 [GRCh38]
Chr3:128204946 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.971del (p.Lys324fs) deletion Lymphedema, primary, with myelodysplasia [RCV000800905] Chr3:128483906 [GRCh38]
Chr3:128202749 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001145661.2(GATA2):c.848G>A (p.Arg283His) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000800918] Chr3:128485750 [GRCh38]
Chr3:128204593 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.599G>A (p.Gly200Asp) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000817386] Chr3:128485999 [GRCh38]
Chr3:128204842 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.727C>T (p.His243Tyr) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000804249] Chr3:128485871 [GRCh38]
Chr3:128204714 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.706A>C (p.Met236Leu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000801426] Chr3:128485892 [GRCh38]
Chr3:128204735 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.457G>A (p.Gly153Arg) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000801631] Chr3:128486141 [GRCh38]
Chr3:128204984 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.62A>T (p.His21Leu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000810657] Chr3:128486970 [GRCh38]
Chr3:128205813 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.419T>C (p.Val140Ala) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000797991] Chr3:128486179 [GRCh38]
Chr3:128205022 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.539A>C (p.Glu180Ala) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000821815] Chr3:128486059 [GRCh38]
Chr3:128204902 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.358C>T (p.Pro120Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000802400] Chr3:128486240 [GRCh38]
Chr3:128205083 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1143T>C (p.Asn381=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000818839] Chr3:128481819 [GRCh38]
Chr3:128200662 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.636G>T (p.Lys212Asn) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000809166] Chr3:128485962 [GRCh38]
Chr3:128204805 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.278C>A (p.Pro93Gln) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000805812] Chr3:128486320 [GRCh38]
Chr3:128205163 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.*418G>A single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001146467] Chr3:128480601 [GRCh38]
Chr3:128199444 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.*1418G>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001149132] Chr3:128479601 [GRCh38]
Chr3:128198444 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.568G>T (p.Ala190Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001067980] Chr3:128486030 [GRCh38]
Chr3:128204873 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.762G>A (p.Pro254=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001045895] Chr3:128485836 [GRCh38]
Chr3:128204679 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.1376T>A (p.Ile459Asn) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001067819] Chr3:128481086 [GRCh38]
Chr3:128199929 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1315C>T (p.Pro439Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000796346] Chr3:128481147 [GRCh38]
Chr3:128199990 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.*13C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001150743] Chr3:128481006 [GRCh38]
Chr3:128199849 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.-114C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001150852] Chr3:128492967 [GRCh38]
Chr3:128211810 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.568G>A (p.Ala190Thr) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000811315] Chr3:128486030 [GRCh38]
Chr3:128204873 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1360C>T (p.Pro454Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000821260] Chr3:128481102 [GRCh38]
Chr3:128199945 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.227A>G (p.His76Arg) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000796147] Chr3:128486805 [GRCh38]
Chr3:128205648 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1242C>G (p.Phe414Leu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000812900] Chr3:128481220 [GRCh38]
Chr3:128200063 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1415C>T (p.Pro472Leu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000822451] Chr3:128481047 [GRCh38]
Chr3:128199890 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.380A>G (p.His127Arg) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000822466] Chr3:128486218 [GRCh38]
Chr3:128205061 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.1238G>A (p.Cys413Tyr) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000794437] Chr3:128481224 [GRCh38]
Chr3:128200067 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.1053T>C (p.Asn351=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000876131] Chr3:128481909 [GRCh38]
Chr3:128200752 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.567G>T (p.Gly189=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000803770] Chr3:128486031 [GRCh38]
Chr3:128204874 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.186C>T (p.Asn62=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000981407] Chr3:128486846 [GRCh38]
Chr3:128205689 [GRCh37]
Chr3:3q21.3
likely benign
NM_001145661.2(GATA2):c.1090G>A (p.Ala364Thr) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000811801] Chr3:128481872 [GRCh38]
Chr3:128200715 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.688C>T (p.Arg230Cys) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000823547] Chr3:128485910 [GRCh38]
Chr3:128204753 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(GATA2):c.327G>A (p.Ala109=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000814277] Chr3:128486271 [GRCh38]
Chr3:128205114 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001145661.2(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 Lymphedema, primary, with myelodysplasia [RCV001067794] Chr3:128486227 [GRCh38]
Chr3:128205070 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.1077A>T (p.Leu359Phe) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001043644] Chr3:128481885 [GRCh38]
Chr3:128200728 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.*352C>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001146469] Chr3:128480667 [GRCh38]
Chr3:128199510 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.101T>G (p.Met34Arg) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001147498] Chr3:128486931 [GRCh38]
Chr3:128205774 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.1356C>T (p.Ile452=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000870641] Chr3:128481106 [GRCh38]
Chr3:128199949 [GRCh37]
Chr3:3q21.3
likely benign
NC_000003.12:g.(?_128480999)_(128912627_?)del deletion Lymphedema, primary, with myelodysplasia [RCV001032428] Chr3:128199842..128631470 [GRCh37]
Chr3:3q21.3
pathogenic
NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000987323] Chr3:128481917 [GRCh38]
Chr3:128200760 [GRCh37]
Chr3:3q21.3
likely pathogenic
NM_032638.5(GATA2):c.187C>G (p.Pro63Ala) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001066938] Chr3:128486845 [GRCh38]
Chr3:128205688 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.831del (p.Phe278fs) deletion Lymphedema, primary, with myelodysplasia [RCV000987325] Chr3:128485767 [GRCh38]
Chr3:128204610 [GRCh37]
Chr3:3q21.3
pathogenic
NM_032638.5(GATA2):c.680G>A (p.Ser227Asn) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001210988] Chr3:128485918 [GRCh38]
Chr3:128204761 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.281G>T (p.Gly94Val) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001241973] Chr3:128486317 [GRCh38]
Chr3:128205160 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.239C>A (p.Thr80Asn) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001236790] Chr3:128486359 [GRCh38]
Chr3:128205202 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.544T>C (p.Ser182Pro) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001239132] Chr3:128486054 [GRCh38]
Chr3:128204897 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.553C>A (p.Pro185Thr) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001222116] Chr3:128486045 [GRCh38]
Chr3:128204888 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.100A>T (p.Met34Leu) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001224015] Chr3:128486932 [GRCh38]
Chr3:128205775 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.814G>C (p.Gly272Arg) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001234339] Chr3:128485784 [GRCh38]
Chr3:128204627 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.248A>G (p.Gln83Arg) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001223174] Chr3:128486350 [GRCh38]
Chr3:128205193 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.599G>C (p.Gly200Ala) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001237472] Chr3:128485999 [GRCh38]
Chr3:128204842 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.1433C>T (p.Ala478Val) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001224679] Chr3:128481029 [GRCh38]
Chr3:128199872 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.172C>T (p.Pro58Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001226807] Chr3:128486860 [GRCh38]
Chr3:128205703 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.779A>G (p.Tyr260Cys) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001234723] Chr3:128485819 [GRCh38]
Chr3:128204662 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.619G>A (p.Asp207Asn) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001209328] Chr3:128485979 [GRCh38]
Chr3:128204822 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.508C>A (p.Leu170Ile) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001223309] Chr3:128486090 [GRCh38]
Chr3:128204933 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.341A>G (p.Asn114Ser) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001239903] Chr3:128486257 [GRCh38]
Chr3:128205100 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.1102C>G (p.Pro368Ala) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001225480] Chr3:128481860 [GRCh38]
Chr3:128200703 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.798C>A (p.His266Gln) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001226728] Chr3:128485800 [GRCh38]
Chr3:128204643 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.700G>A (p.Ala234Thr) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001214942] Chr3:128485898 [GRCh38]
Chr3:128204741 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.611G>A (p.Arg204Gln) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001204067] Chr3:128485987 [GRCh38]
Chr3:128204830 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.856G>C (p.Ala286Pro) single nucleotide variant Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency [RCV001267764]|Lymphedema, primary, with myelodysplasia [RCV001203272] Chr3:128485742 [GRCh38]
Chr3:128204585 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.437G>T (p.Gly146Val) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001211637] Chr3:128486161 [GRCh38]
Chr3:128205004 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.*1002G>T single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001150633] Chr3:128480017 [GRCh38]
Chr3:128198860 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.607G>C (p.Ala203Pro) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV001144643] Chr3:128485991 [GRCh38]
Chr3:128204834 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_032638.5(GATA2):c.144C>T (p.Phe48=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000896506] Chr3:128486888 [GRCh38]
Chr3:128205731 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.165G>A (p.Gln55=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000932350] Chr3:128486867 [GRCh38]
Chr3:128205710 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.49C>T (p.Leu17=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000861840] Chr3:128486983 [GRCh38]
Chr3:128205826 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.1368G>A (p.Pro456=) single nucleotide variant Lymphedema, primary, with myelodysplasia [RCV000952335] Chr3:128481094 [GRCh38]
Chr3:128199937 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.147C>T (p.Phe49=) single nucleotide variant not provided [RCV000941948] Chr3:128486885 [GRCh38]
Chr3:128205728 [GRCh37]
Chr3:3q21.3
likely benign
NM_032638.5(GATA2):c.1018-10G>A single nucleotide variant Lymphedema, primary, with myelodysplasia [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 not provided [RCV000984816] Chr3:128481941 [GRCh38]
Chr3:128200784 [GRCh37]
Chr3:3q21.3
likely pathogenic
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) single nucleotide variant Lymphedema, primary, with myelodysplasia [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 not provided [RCV000984819] Chr3:128481910 [GRCh38]
Chr3:128200753 [GRCh37]
Chr3:3q21.3
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
likely pathogenic
NM_032638.5(GATA2):c.1143+13C>T single nucleotide variant 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<