Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906631
rs387906631
GATA2
0.882 0.080 3 128481901 missense variant G/A snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.820 1.000 0 2011 2012
dbSNP: rs387906629
rs387906629
GATA2
0.925 0.080 3 128481270 missense variant G/A snv
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 1.000 0 2011 2011
dbSNP: rs387906630
rs387906630
GATA2
1.000 0.040 3 128485837 missense variant G/A;C snv
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 1.000 0 2011 2011
dbSNP: rs387906633
rs387906633
GATA2
1.000 0.040 3 128481845 missense variant A/G snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.800 1.000 0 2011 2011
dbSNP: rs1426175410
rs1426175410
GATA2
0.925 0.040 3 128481881 missense variant G/A;C snv 7.0E-06
CUI: C3275959
Disease: LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1553770434
rs1553770434
GATA2
0.925 0.040 3 128481275 missense variant C/T snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.700 0
dbSNP: rs1553770434
rs1553770434
GATA2
0.925 0.040 3 128481275 missense variant C/T snv
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.700 0
dbSNP: rs1553770510
rs1553770510
GATA2
1.000 0.040 3 128481878 stop gained G/A snv
CUI: C3275959
Disease: LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1553770510
rs1553770510
GATA2
1.000 0.040 3 128481878 stop gained G/A snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.700 0
dbSNP: rs1553770655
rs1553770655
GATA2
1.000 0.040 3 128483320 intron variant TGCAGATGTCCGGATAGGAAACTCCGGC/- delins
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.700 0
dbSNP: rs1553770949
rs1553770949
GATA2
0.925 0.040 3 128485944 stop gained -/GTCAG delins
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.700 0
dbSNP: rs1553770949
rs1553770949
GATA2
0.925 0.040 3 128485944 stop gained -/GTCAG delins
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.700 0
dbSNP: rs1559986109
rs1559986109
GATA2
0.925 0.040 3 128483973 frameshift variant -/TGGCCCCACAGTTG delins
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.700 0
dbSNP: rs1559986109
rs1559986109
GATA2
0.925 0.040 3 128483973 frameshift variant -/TGGCCCCACAGTTG delins
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.700 0
dbSNP: rs1559986946
rs1559986946
GATA2
0.925 0.040 3 128485779 frameshift variant -/C delins
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.700 0
dbSNP: rs1559986946
rs1559986946
GATA2
0.925 0.040 3 128485779 frameshift variant -/C delins
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.700 0
dbSNP: rs376003468
rs376003468
GATA2
0.925 0.040 3 128481849 missense variant G/A;T snv 5.2E-05
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.700 0
dbSNP: rs376003468
rs376003468
GATA2
0.925 0.040 3 128481849 missense variant G/A;T snv 5.2E-05
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.700 0
dbSNP: rs387906629
rs387906629
GATA2
0.925 0.080 3 128481270 missense variant G/A snv
CUI: C3275959
Disease: LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs387906631
rs387906631
GATA2
0.882 0.080 3 128481901 missense variant G/A snv
CUI: C3275959
Disease: LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs387906634
rs387906634
GATA2
1.000 0.040 3 128481880 missense variant C/A snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.700 0
dbSNP: rs768767517
rs768767517
GATA2
1.000 0.040 3 128485999 frameshift variant C/-;CC delins
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.700 0
dbSNP: rs797045591
rs797045591
GATA2
3 128481908 missense variant A/G snv
CUI: C3275959
Disease: LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs797045592
rs797045592
GATA2
3 128485741 missense variant G/A snv
CUI: C3275959
Disease: LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs863224874
rs863224874
GATA2
1.000 0.040 3 128481836 frameshift variant -/GAGG delins
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.700 0