St. Jude Research

GATA2 Database

GATA2 Visualization

The GATA2 Database is a curated repository of germline GATA2 variants identified in patients through published literature and direct referrals. Our goal is to provide a comprehensive knowledge base for understanding GATA2 variants. This initial release focuses on documentation of published variants, with future iterations planned to incorporate more extensive information. 

If you are interested in contributing variants, please contact wlodarskilab@stjude.org

GATA2 transcript version is NM_032638.5, protein version is NP_116027.2. Curated by Lili Kotmayer, MD, PhD. Last updated at 12/02/2024.

Patient ID Germline GATA2 mutation (cDNA) Germline GATA2 mutation (Protein) Type of mutation GnomAD (v4.1.0) population frequency Year of reporting PMID Patient also reported in (PMID)  
1 3q21.1‐q21.3 deletion 3q21.1‐q21.3 deletion interstitial deletion Absent 2009 19449416 26710799, 2214789  
2 c.1192C>T p.Arg398Trp missense 1.59051E-06 2011 21670465 20040766, 21816832, 24227816, 23502222, 8701948  
3 c.1192C>T p.Arg398Trp missense 1.59051E-06 2011 21670465 20040766, 23502222, 24227816, 25359990, 28642594  
4 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21670465 20040766, 23502222, 24227816, 25359990, 23502222, 24077845, 21892162, 28642594, 21816832  
5 c.1-200_871+527del2033 p.Met1del290 in frame deletion Absent 2011 21670465 20040766, 22147895, 23502222, 24227816, 25359990  
6 c.1-200_871+527del2033 p.Met1del290 in frame deletion Absent 2011 21670465 20040766, 22147895, 23502222, 24227816, 25359990  
7 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21670465 23365458, 24227816, 25359990, 25111582, 24077845, 28642594  
8 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21670465 24227816, 27169477, 23502222, 28642594, 29375553  
9 c.951_952ins11 p.Asn317PhefsX frameshift Absent 2011 21670465    
10 uniallelic expression of GATA2 uniallelic expression of GATA2 uniallelic expression of GATA2 Absent 2011 21670465 24227816, 23502222  
11 c.310_311insCC p.Leu105ProfsX15 frameshift Absent 2011 21892158    
12 c.310_311insCC p.Leu105ProfsX15 frameshift Absent 2011 21892158    
13 c.310_311insCC p.Leu105ProfsX15 frameshift Absent 2011 21892158    
14 c.310_311insCC p.Leu105ProfsX15 frameshift Absent 2011 21892158    
15 c.310_311insCC p.Leu105ProfsX15 frameshift Absent 2011 21892158    
16 c.230-1_230insC p.Arg78ProfsX107 frameshift Absent 2011 21892158    
17 c.230-1_230insC p.Arg78ProfsX107 frameshift Absent 2011 21892158    
18 c.230-1_230insC p.Arg78ProfsX107 frameshift Absent 2011 21892158    
19 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 12145700, 28642594  
20 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 12145700, 28642594  
21 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 28642594  
22 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 28642594  
23 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 28642594  
24 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 37406166, 28642594  
25 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 28642594  
26 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 28642594  
27 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 28642594  
28 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 28642594  
29 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 28642594  
30 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 28642594  
31 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 28642594  
32 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 28642594  
33 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 28642594  
34 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 28642594  
35 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 28642594  
36 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 28642594  
37 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21892162 28642594  
38 c.1063_1065delACA p.Thr355del in frame deletion Absent 2011 21892162    
39 c.1063_1065delACA p.Thr355del in frame deletion Absent 2011 21892162    
40 c.599dupG p.Ser201X nonsense Absent 2014 24345756 29295841  
41 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21242295 21765025, 24345756, 28642594  
42 c.1192C>T p.Arg398Trp missense 1.59051E-06 2011 21242295 21765025, 24345756, 29295841, 28642594  
43 c.1018-1G>T p.? splicing Absent 2011 21242295 21765025, 24345756  
44 c.1061C>T p.Thr354Met missense 6.84121E-07 2012 22147895 28642594  
45 c.1061C>T p.Thr354Met missense 6.84121E-07 2012 22147895 28642594  
46 c.1061C>T p.Thr354Met missense 6.84121E-07 2012 22147895 28642594  
47 3q21.3-q22.3 deletion 3q21.3-q22.3 deletion interstitial deletion Absent 2012 22147895    
48 3q13.33-q21.3 deletion 3q13.33-q21.3 deletion interstitial deletion Absent 2012 22147895    
49 c.310_311insCC p.Leu105ProfsX15 frameshift Absent 2012 22533337    
50 c.121C>G p.Pro41Ala missense 0.000713016 2012 22533337    
51 c.1187G>A p.Arg396Gln missense Absent 2012 22533337 32098966, 28642594  
52 c.1061C>T p.Thr354Met missense 6.84121E-07 2012 22533337 32098966, 28642594  
53 c.1187G>A p.Arg396Gln missense Absent 2012 22533337 28642594  
54 c.1061C>T p.Thr354Met missense 6.84121E-07 2012 22533337 28642594  
55 c.1061C>T p.Thr354Met missense 6.84121E-07 2012 22271902 28642594  
56 c.1061C>T p.Thr354Met missense 6.84121E-07 2012 22271902 28642594  
57 c.1061C>T p.Thr354Met missense 6.84121E-07 2012 22271902 28642594  
58 c.1061C>T p.Thr354Met missense 6.84121E-07 2012 22271902 32098966, 28642594  
59 c.1061C>T p.Thr354Met missense 6.84121E-07 2012 22271902 32098966, 28642594  
60 c.1061C>T p.Thr354Met missense 6.84121E-07 2012 22271902 32098966, 28642594  
61 c.871+2_3insT p.? splicing Absent 2017 26395816 39497062  
62 c.1186C>T p.Arg396Trp missense Absent 2013 23728141 24227816, 27169477, 25359990, 24077845, 29375553  
63 c.1017+572C>T p.= regulatory Absent 2013 23502222    
64 c.769_778dup p.Tyr260fsX25 frameshift Absent 2013 23502222 24227816, 25359990, 24077845, 21670465, 21892162, 8701948, 21816832, 36357187  
65 c.941_951dup p.Ala318ThrfsX12 frameshift Absent 2013 23502222 24227816, 25359990, 24077845, 21670465, 36357187  
66 c.1163T>C p.Met388Thr missense Absent 2013 23502222    
67 c.1017+572C>T p.= regulatory Absent 2013 23502222 24227816, 20040766, 37406166  
68 c.1017+572C>T p.= regulatory Absent 2013 23502222 24227816, 37406166  
69 c.1017+572C>T p.= regulatory Absent 2013 23502222 37406166  
70 c.1017+512del28 p.= regulatory Absent 2013 23502222 24227816, 20040766, 23365458, 22996659, 24077845  
71 c.1017+512del28 p.= regulatory Absent 2013 23502222    
72 c.1-276T>G p.= regulatory Absent 2013 23502222    
73 c.1187G>A p.Arg396Gln missense Absent 2013 23223431 29724903, 22533337, 36727400, 28642594  
74 c.1187G>A p.Arg396Gln missense Absent 2013 23223431 26710799, 29724903, 22533337, 36727400, 28642594  
75 c.1187G>A p.Arg396Gln missense Absent 2013 23223431 29724903, 22533337, 36727400, 28642594  
76 c.1187G>A p.Arg396Gln missense Absent 2013 23223431 29724903, 36727400, 28642594  
77 c.1114G>A p.Ala372Thr missense 1.5907E-06 2013 23223431 29724903, 36727400  
78 c.1162A>G p.Met388Val missense 1.20032E-06 2013 23223431 29724903  
79 c.1162A>G p.Met388Val missense 1.20032E-06 2013 23223431 29724903  
80 c.988C>T p.Arg330X nonsense 6.8406E-07 2013 23223431 29724903, 36727400  
81 c.988C>T p.Arg330X nonsense 6.8406E-07 2013 23223431 29724903  
82 c.988C>T p.Arg330X nonsense 6.8406E-07 2013 23223431 29724903  
83 c.988C>T p.Arg330X nonsense 6.8406E-07 2013 23223431 29724903  
84 c.988C>T p.Arg330X nonsense 6.8406E-07 2013 23223431 29724903  
85 c.1025_1026insGCCG p.Ala342GlyfsX41 frameshift Absent 2013 23365458 2543925  
86 c.1017+572C>T p.= regulatory Absent 2013 23365458 20040766, 23502222, 24227816, 21892162, 24077845, 37406166  
87 c.417dupT p.Val140CysfsX44 frameshift Absent 2013 23365458 24227816, 25359990, 24077845, 30578959  
88* c.77A>C p.His26Pro missense Absent 2013 23563236 32098966  
88* c.83delG p.Gly28AlafsX52 frameshift Absent 2013 23563236 32098966  
89* c.77A>C p.His26Pro missense Absent 2013 23563236 32098966, 29375553  
89* c.83delG p.Gly28AlafsX52 frameshift Absent 2013 23563236 32098966, 29375553  
90 c.1061C>T p.Thr354Met missense 6.84121E-07 2014 24077845 24227816, 25359990, 23502222, 21892162, 25111582  
91 c.1017+572C>T p.= regulatory Absent 2014 24077845 23502222, 24227816  
92 c.1192C>T p.Arg398Trp missense 1.59051E-06 2014 24077845 24227816, 20040766, 28642594  
93 c.1192C>T p.Arg398Trp missense 1.59051E-06 2014 24077845 24227816, 20040766, 21670465, 28642594, 27169477, 29375553  
94 c.1017+572C>T p.= regulatory Absent 2014 24077845 30578959, 24227816, 23502222, 20040766, 23365458, 30578959  
95 c.243_244delAinsGC p.Gly82fsX? frameshift Absent 2014 24077845 21670465, 24227816, 25359990, 23502222, 20040766, 21816832, 8701948  
96 c.1083_1094del12 p.Arg361del4ArgAsnAlaAsn in frame deletion Absent 2014 24077845 20040766, 21670465, 24227816, 25359990, 23365458  
97 c.1017+572C>T p.= regulatory Absent 2014 24077845 24227816, 25359990, 23502222, 20040766  
98 c.1113C>G p.Asn371Lys missense Absent 2014 24077845 20040766, 21670465, 24227816  
99 c.1187G>A p.Arg396Gln missense Absent 2014 24077845 21670465, 24227816, 30578959, 8701948, 28642594  
100 c.1018-1G>A p.340_381del RNA deleterious Absent 2014 24077845 24227816, 25359990, 21670465  
101 c.302delG p.Gly101fsX? frameshift Absent 2014 24077845 24227816, 23365458, 23502222  
102 c.1116_1130del15 p.Cys373del5 in frame deletion Absent 2014 24077845 24227816  
103 c.1116_1130del15 p.Cys373del5 in frame deletion Absent 2014 24077845 24227816  
104 c.1187G>A p.Arg396Gln missense Absent 2014 24077845 23502222, 24227816, 28642594  
105 c.1099dup p.Asp367GlyfsX15  frameshift Absent 2014 24077845 24227816, 25359990  
106 c.1099dup p.Asp367GlyfsX15  frameshift Absent 2014 24077845 24227816  
107 c.1017+572C>T p.= regulatory Absent 2014 24077845 24227816, 23502222, 23365458, 20040766, 22996659  
108 c.1187G>A p.Arg396Gln missense Absent 2014 24077845 30578959, 25359990, 24227816, 28642594  
109 c.1187G>A p.Arg396Gln missense Absent 2014 24077845 24227816, 25359990, 28642594  
110 c.586_593dup p.Gly199LeufsX21 frameshift Absent 2014 24077845 30578959, 24227816, 23502222  
111 c.988C>T p.Arg330X nonsense 6.8406E-07 2014 24077845 30578959, 24227816, 25359990, 28825694, 27169477, 29375553  
112 c.988C>T p.Arg330X nonsense 6.8406E-07 2014 24077845 30578959, 24227816, 25359990, 28825694, 27169477, 29375553  
113 c.1186C>T p.Arg396Trp missense Absent 2014 24077845 20040766, 21670465, 24227816, 25359990, 23365458, 23502222  
114 c.988C>T p.Arg330X nonsense 6.8406E-07 2014 24077845    
115 c.1192C>T p.Arg398Trp missense 1.59051E-06 2014 24077845 24227816, 25359990, 20040766, 21670465, 23502222  
116 c.1017+512C>T p.= regulatory Absent 2014 24077845 23502222  
117 c.1081C>T p.Arg361Cys missense 6.5703E-06 2014 24077845 24227816, 23502222  
118 c.1123C>T p.Leu375Phe missense Absent 2014 24359037 24077845  
119 c.1163T>C p.Met388Thr missense Absent 2014 24077845 24227816, 23502222  
120 c.1163T>C p.Met388Thr missense Absent 2014 24077845    
121 c.1009C>T p.Arg337X nonsense Absent 2014 24077845 23502222, 24227816, 25359990  
122 c.793_802del10 p.Phe265fsX? frameshift Absent 2014 24077845    
123 c.1187G>A p.Arg396Gln missense Absent 2014 24077845 30578959, 24227816, 27169477, 28642594, 29375553  
124 c.1192C>T p.Arg398Trp missense 1.59051E-06 2014 24077845 24227816, 21670465, 8701948, 25359990, 20040766, 21816832, 28642594  
125 c.1082G>A p.Arg361His missense Absent 2014 24077845 25359990  
126 c.1017+572C>T p.= regulatory Absent 2014 24227816    
127 c.1061C>T p.Thr354Met missense 6.84121E-07 2014 24227816 28642594  
128 c.1116_1130del15 p.Cys373del5 in frame deletion Absent 2014 24077845 24227816, 25359990  
129 c.1163T>C  p.Met388Thr missense Absent 2014 24227816 23502222  
130 c.1163T>C  p.Met388Thr missense Absent 2014 24227816    
131 c.1187G>A p.Arg396Gln missense Absent 2014 24227816 28642594  
132 c.1187G>A p.Arg396Gln missense Absent 2014 24227816 28642594  
133 c.1187G>A p.Arg396Gln missense Absent 2014 24227816 28642594  
134 c.1192C>T p.Arg398Trp missense 1.59051E-06 2014 24345756 28642594  
135 c.1192C>T p.Arg398Trp missense 1.59051E-06 2014 24345756 28642594  
136 c.599delG p.Gly200ValfsX18 frameshift Absent 2014 24345756    
137 c.599delG p.Gly200ValfsX18 frameshift Absent 2014 24345756    
138 c.599delG p.Gly200ValfsX18 frameshift Absent 2014 24345756    
139 c.318_319insT p.Ser106fsX? frameshift Absent 2014 24345756    
140 c.318_319insT p.Ser106fsX? frameshift Absent 2014 24345756    
141 c.1193G>A p.Arg398Gln missense 2.05221E-06 2014 24345756    
142 c.1193G>A p.Arg398Gln missense 2.05221E-06 2014 24345756    
143 c.1193G>A p.Arg398Gln missense 2.05221E-06 2014 24345756    
144 c.1193G>A p.Arg398Gln missense 2.05221E-06 2014 24345756    
145 c.1193G>A p.Arg398Gln missense 2.05221E-06 2014 24345756    
146 c.1061C>T p.Thr354Met missense 6.84121E-07 2014 24345756 4508672, 28642594  
147 c.1061C>T p.Thr354Met missense 6.84121E-07 2014 24345756 4508672, 28642594  
148 c.1061C>T p.Thr354Met missense 6.84121E-07 2014 24345756 4508672, 28642594  
149 c.1061C>T p.Thr354Met missense 6.84121E-07 2014 24345756 4508672, 28642594  
150 c.1061C>T p.Thr354Met missense 6.84121E-07 2014 24345756 4508672, 28642594  
151 c.599dupG p.Ser201X nonsense Absent 2014 24345756 21765025  
152 c.599dupG p.Ser201X nonsense Absent 2011 21242295 21765025, 24345756, 29295841, 36727400  
153 c.1061C>T p.Thr354Met missense 6.84121E-07 2014 24726394    
154 c.1061C>T p.Thr354Met missense 6.84121E-07 2014 24726394    
155 c.988C>T p.Arg330X nonsense 6.8406E-07 2014 24782121    
156 c.1192C>T p.Arg398Trp missense 1.59051E-06 2014 25111582    
157 c.1192C>T p.Arg398Trp missense 1.59051E-06 2014 25111582    
158 c.1061C>T p.Thr354Met missense 6.84121E-07 2014 25111582    
159 c.892dupT p.Cys298LeufsX86 frameshift Absent 2015 26022708    
160 c.892dupT p.Cys298LeufsX86 frameshift Absent 2015 26022708    
161 c.802G>T p.Gly268X nonsense Absent 2015 26022708    
162 c.1018-2A>G p.? splicing Absent 2015 26022708    
163 c.1018-2A>G p.? splicing Absent 2015 26022708    
164 c.1339A>C p.Ser447Arg missense Absent 2015 25619630 31246134  
165 c.1339A>C p.Ser447Arg missense Absent 2015 25619630 31246134  
166 c.1339A>C p.Ser447Arg missense Absent 2015 25619630 31246134  
167 c.1339A>C p.Ser447Arg missense Absent 2015 25619630 31246134  
168 c.1339A>C p.Ser447Arg missense Absent 2015 25619630 31246134  
169 c.1339A>C p.Ser447Arg missense Absent 2015 25619630 31246134  
170 c.1339A>C p.Ser447Arg missense Absent 2015 25619630 31246134  
171 c.1081C>T p.Arg361Cys missense 6.5703E-06 2015 25879889    
172 c.1081C>T p.Arg361Cys missense 6.5703E-06 2015 25879889    
173 c.1081C>T p.Arg361Cys missense 6.5703E-06 2015 25879889    
174 c.988C>T p.Arg330X nonsense 6.8406E-07 2015 25239263    
175 c.1078T>A p.Trp360Arg missense Absent 2015 25239263    
176 c.1061C>T p.Thr354Met missense 6.84121E-07 2015 26492932 28642594  
177 c.1061C>T p.Thr354Met missense 6.84121E-07 2015 26492932 28642594  
178 c.1017+572C>T p.= regulatory Absent 2016 27013649    
179 c.1084C>T p.Arg362X nonsense Absent 2016 27013649    
180 c.1017+572C>T p.= regulatory Absent 2016 27013649    
181 c.1081C>T p.Arg361Cys missense 6.5703E-06 2016 27013649    
182 c.1081C>T p.Arg361Cys missense 6.5703E-06 2016 27013649    
183 c.917G>A p.Trp306X nonsense Absent 2016 27416790    
184 c.1009C>T p.Arg337X nonsense Absent 2016 27416790    
185 c.302delG p.Gly101fsX? frameshift Absent 2016 27418648    
186 c.1017+2T>C p.Ser340AlafsX49 frameshift Absent 2016 27418648    
187 c.988C>T p.Arg330X nonsense 6.8406E-07 2016 27418648    
188 c.1061C>T p.Thr354Met missense 6.84121E-07 2016 27418648 28642594  
189 c.1081C>T p.Arg361Cys missense 6.5703E-06 2016 27418648    
190 c.1061C>T p.Thr354Met missense 6.84121E-07 2017 28947108 28747912  
191 c.952G>A p.Ala318Thr missense Absent 2017 28066994    
192 c.988C>T p.Arg330X nonsense 6.8406E-07 2017 28825694    
193 c.988C>T p.Arg330X nonsense 6.8406E-07 2017 28825694    
194 c.1018-1G>A p.340_381del RNA deleterious Absent 2017 29296959    
195 c.1018-2A>C p.? splicing Absent 2017 29296959    
196 c.1144-1G>C p.? splicing Absent 2017 29296959    
197 c.599delG p.Gly200ValfsX18 frameshift Absent 2017 29296959    
198 c.1187G>A p.Arg396Gln missense Absent 2017 27680514    
199 c.1187G>A p.Arg396Gln missense Absent 2017 27680514    
200 c.1339A>C p.Ser447Arg missense Absent 2017 28259234    
201 c.130G>T p.Glu44X nonsense Absent 2017 28271814    
202 c.130G>T p.Glu44X nonsense Absent 2017 28271814    
203 c.130G>T p.Glu44X nonsense Absent 2017 28271814 24167460  
204 c.130G>T p.Glu44X nonsense Absent 2017 28271814 24167460  
205 c.130G>T p.Glu44X nonsense Absent 2017 28271814 24167460  
206 c.1079G>T p.Trp360Leu missense Absent 2017 29146883    
207 c.1084C>T p.Arg362X nonsense Absent 2017 29146883    
208 c.423C>A p.Tyr141X nonsense Absent 2017 29146883    
209 c.1082G>A p.Arg361His missense Absent 2017 29146883    
210 c.1082G>A p.Arg361His missense Absent 2017 29146883    
211 c.599dupG p.Ser201X nonsense Absent 2017 29146883    
212 c.229+13_229+14insGCCins203_229+13 p.? splicing Absent 2018 29724903    
213 c.229+13_229+14insGCCins203_229+13 p.? splicing Absent 2018 29724903    
214 c.437del p.Gly146ValfsX72 frameshift Absent 2018 29724903 36727400  
215 c.1017+572C>T p.= regulatory Absent 2018 29724903    
216 c.1017+572C>T p.= regulatory Absent 2018 29724903    
217 c.1018_1028del p.Ser340LysfsX40 frameshift Absent 2018 29724903    
218 c.1018_1028del p.Ser340LysfsX40 frameshift Absent 2018 29724903    
219 c.1023delC p.Ala342ProfsX45 frameshift Absent 2018 29724903 33417088  
220 c.1023delC p.Ala342ProfsX45 frameshift Absent 2018 29724903 33417088  
221 c.1076T>C p.Leu359Ser missense Absent 2018 29724903 36727400  
222 c.1077_1082dup p.Trp360_Arg361dup in frame duplication Absent 2018 29724903    
223 c.1085G>C p.Arg362Pro missense Absent 2018 29724903 36727400  
224 c.1085G>C p.Arg362Pro missense Absent 2018 29724903    
225 c.1114G>A p.Ala372Thr missense 1.5907E-06 2018 29724903    
226 c.1154C>A p.Pro385Gln missense Absent 2018 29724903 36727400  
227 c.1154C>A p.Pro385Gln missense Absent 2018 29724903    
228 c.1154C>A p.Pro385Gln missense Absent 2018 29724903 36727400  
229 c.1154C>A p.Pro385Gln missense Absent 2018 29724903    
230 c.1186C>T p.Arg396Trp missense Absent 2018 29724903 36727400  
231 c.1186C>T p.Arg396Trp missense Absent 2018 29724903 36727400, 39497062  
232 c.1193G>A p.Arg398Gln missense 2.05221E-06 2018 29724903 33417088, 39497062  
233 c.1193G>A p.Arg398Gln missense 2.05221E-06 2018 29724903 36727400  
234 c.1193G>A p.Arg398Gln missense 2.05221E-06 2018 29724903 36727400  
235 c.1061C>T p.Thr354Met missense 6.84121E-07 2018 30232126    
236 c.1061C>T p.Thr354Met missense 6.84121E-07 2018 30232126    
237 c.1082G>A p.Arg361His missense Absent 2018 30232126    
238 c.1082G>A p.Arg361His missense Absent 2018 30232126    
239 c.1018-50_1143+247del p.= regulatory Absent 2018 30232126    
240 c.1018-50_1143+247del p.= regulatory Absent 2018 30232126    
241 c.1018-50_1143+247del p.= regulatory Absent 2018 30232126    
242 c.1018-50_1143+247del p.= regulatory Absent 2018 30232126    
243 c.1017+572C>T p.= regulatory Absent 2018 29156497    
244 c.1017+572C>T p.= regulatory Absent 2018 29412158    
245 c.1116_1130del15 p.Cys373del5 in frame deletion Absent 2018 29412158    
246 c.1082G>A p.Arg361His missense Absent 2018 29412158    
247 c.1084C>T p.Arg362X nonsense Absent 2018 29412158    
248 c.1187G>A p.Arg396Gln missense Absent 2018 29412158    
249 c.1084C>T p.Arg362X nonsense Absent 2018 29412158    
250 c.1192C>T p.Arg398Trp missense 1.59051E-06 2018 29412158    
251 c.1128C>A p.Tyr376X nonsense Absent 2018 29412158    
252 c.988G>T p.Arg330X nonsense Absent 2018 29412158    
253 c.988G>T p.Arg330X nonsense Absent 2018 29412158    
254 c.1019_1020insCGACTGGGAGGGCAAGGCAG p.Ala341AspfsX53 RNA deleterious Absent 2018 29189513    
255 c.1061C>T p.Thr354Met missense 6.84121E-07 2018 29588856    
256 c.1187G>T p.Arg396Leu missense Absent 2018 29882021    
257 c.1187G>T p.Arg396Leu missense Absent 2018 29882021    
258 c.1187G>T p.Arg396Leu missense Absent 2018 29882021    
259 c.351C>G p.Thr117Thr (p.Val118GlnfsX55) frameshift Absent 2018 30030275    
260 c.351C>G p.Thr117Thr (p.Val118GlnfsX55) frameshift Absent 2018 30030275    
261 c.1192C>T p.Arg398Trp missense 1.59051E-06 2019 30578959    
262 c.1192C>T p.Arg398Trp missense 1.59051E-06 2019 30578959    
263 c.1082G>A p.Arg361His missense Absent 2019 30578959    
264 c.1114G>A p.Ala372Thr missense 1.5907E-06 2019 30578959    
265 c.802G>T p.Gly268X nonsense Absent 2019 30578959    
266 c.1186C>T p.Arg396Trp missense Absent 2019 30578959    
267 c.1084C>T p.Arg362X nonsense Absent 2019 30578959    
268 c.1084C>T p.Arg362X nonsense Absent 2019 30578959    
269 c.1021G>C p.Ala341Pro missense 5.4753E-06 2019 30578959    
270 c.1017+572C>T p.= regulatory Absent 2019 30578959    
271 c.1036G>A p.Gly346Ser missense Absent 2019 30578959    
272 c.1017+572C>T p.= regulatory Absent 2019 30578959    
273 c.1017+572C>T p.= regulatory Absent 2019 30578959    
274 c.1017+572C>T p.= regulatory Absent 2019 30578959    
275 c.1192C>T p.Arg398Trp missense 1.59051E-06 2019 30578959    
276 c.1017+572C>T p.= regulatory Absent 2019 30578959    
277 c.1061C>T p.Thr354Met missense 6.84121E-07 2019 30578959    
278 c.58C>T p.Gln20X nonsense Absent 2019 30802360    
279 c.1123C>T p.Leu375Phe missense Absent 2019 31245276    
280 c.1061C>T p.Thr354Met missense 6.84121E-07 2019 31035956    
281 c.1061C>T p.Thr354Met missense 6.84121E-07 2019 31035956    
282 c.1061C>T p.Thr354Met missense 6.84121E-07 2019 31035956    
283 c.17_18del p.Glu6AlafsX178 frameshift Absent 2019 31033783    
284 c.(16bp tandem repeat in exon 4) p.Thr347fsX? frameshift Absent 2019 30564229 39497062  
285 c.(16bp tandem repeat in exon 4) p.Thr347fsX? frameshift Absent 2019 30564229    
286 c.1021delG p.Ala341ProfsX46 frameshift Absent 2019 30697248    
287 c.956_962delGTGGCCT p.Cys319SerfsX5 frameshift Absent 2019 31106410    
288 c.1192C>T p.Arg398Trp missense 1.59051E-06 2019 31106410    
289 c.956_962delGTGGCCT p.Cys319SerfsX5 frameshift Absent 2019 31106410    
290 c.1192C>T p.Arg398Trp missense 1.59051E-06 2019 31106410    
291 c.821delC p.Phe274fsX? frameshift Absent 2019 31309983    
292 c.610C>T p.Arg204X nonsense Absent 2019 31309983    
293 c.1085G>A p.Arg362Gln missense Absent 2019 31309983    
294 c.706A>G p.Met236Val missense 1.92077E-05 2019 31309983    
295 c.1192C>T p.Arg398Trp missense 1.59051E-06 2019 31309983    
296 c.1017+572C>T p.= regulatory Absent 2019 31309983    
297 c.1084C>T p.Arg362X nonsense Absent 2019 31753093    
298 c.1192C>T p.Arg398Trp missense 1.59051E-06 2019 30714451    
299 c.1192C>T p.Arg398Trp missense 1.59051E-06 2019 30714451    
300 c.1017+572C>T p.= regulatory Absent 2019 32914014    
301 heterozygous deletion that included at least exon 2 of the GATA2 gene heterozygous deletion that included at least exon 2 of the GATA2 gene interstitial deletion Absent 2019 32914014    
302 c.1034_1035insTCTTCTTGTGGCGGCTCTTCTGGCGGC p.Ala345delinsAlaLeuLeuValAlaAlaLeuLeuAlaAla in frame insertion Absent 2020 32286542 37406166  
303 c.1034_1035insTCTTCTTGTGGCGGCTCTTCTGGCGGC p.Ala345delinsAlaLeuLeuValAlaAlaLeuLeuAlaAla in frame insertion Absent 2020 32286542 37406166  
304 c.1061C>T p.Thr354Met missense 6.84121E-07 2020 32098966    
305 c.1061C>T p.Thr354Met missense 6.84121E-07 2020 32098966    
306 c.1084C>T p.Arg362X nonsense Absent 2020 32098966    
307 c.1121G>A p.Gly374Asp missense Absent 2020 32497548    
308 c.1041delC p.Cys348ValfsX39 frameshift Absent 2014 10.14785 28234738  
309 c.1061C>T p.Thr354Met missense 6.84121E-07 2010 20040766 21670465, 28642594  
310 c.1023_1026dupCGCC p.Arg344fsX? frameshift Absent 2020 32865708    
311 c.1023_1026dupCGCC p.Arg344fsX? frameshift Absent 2020 32865708    
312 c.351C>G p.Thr117Thr (p.Val118GlnfsX55) frameshift Absent 2020 32488879 37406166  
313 c.351C>G p.Thr117Thr (p.Val118GlnfsX55) frameshift Absent 2020 32488879    
314 c.351C>G p.Thr117Thr (p.Val118GlnfsX55) frameshift Absent 2020 32488879    
315 c.351C>G p.Thr117Thr (p.Val118GlnfsX55) frameshift Absent 2020 32488879    
316 c.351C>G p.Thr117Thr (p.Val118GlnfsX55) frameshift Absent 2020 32488879    
317 c.351C>G p.Thr117Thr (p.Val118GlnfsX55) frameshift Absent 2020 32488879    
318 c.481C>G p.Pro161Ala missense 0.012031366 2020 32208489    
319 c.1017G>T p.Ser340ValfsX48 frameshift Absent 2020 32556286    
320 c.1017G>T p.Ser340ValfsX48 frameshift Absent 2020 32556286    
321 c.1061C>A p.Thr354Lys missense Absent 2020 32556286    
322 c.1192C>T p.Arg398Trp missense 1.59051E-06 2020 32556286    
323 c.1017+572C>T p.= regulatory Absent 2020 32556286    
324 c.1021delG p.Ala341ProfsX46 frameshift Absent 2020 32556286    
325 c.1150delA p.Arg384GlyfsX3 frameshift Absent 2020 32556286    
326 c.1081C>T p.Arg361Cys missense 6.5703E-06 2020 32556286    
327 c.1072A>C p.Thr358Pro missense Absent 2020 32655615    
328 c.1072A>C p.Thr358Pro missense Absent 2020 32655615    
329 c.535A>T  p.Lys179X nonsense Absent 2020 32718260    
330 3.1-3.3 Mb het del encompassing GATA2  3.1-3.3 Mb het del encompassing GATA2  whole gene deletion Absent 2017 29296959    
331 whole gene deletion whole gene deletion whole gene deletion Absent 2017 29146883    
332 c.1084C>T p.Arg362X nonsense Absent 2016 26748574    
333 c.1084C>T p.Arg362X nonsense Absent 2016 26748574    
334 uniallelic expression of GATA2 uniallelic expression of GATA2 uniallelic expression of GATA2 Absent 2013 23502222 29156497, 24227816  
335 c.610C>T p.Arg204X nonsense Absent 2019 31279773    
336 c.1081C>T p.Arg361Cys missense 6.5703E-06 2019 30933029    
337 c.1061C>T p.Thr354Met missense 6.84121E-07 2019 31322613    
338 c.1061C>T p.Thr354Met missense 6.84121E-07 2019 31322613    
339 c.1061C>T p.Thr354Met missense 6.84121E-07 2019 31322613    
340 NA p.Arg337ThrfsX45 frameshift Absent 2020 32643807    
341 c.1117_1119delTGTinsGGG p.Cys373Gly missense Absent 2020 32682923    
342 c.1117_1119delTGTinsGGG p.Cys373Gly missense Absent 2020 32682923    
343 c.1117_1119delTGTinsGGG p.Cys373Gly missense Absent 2020 32682923    
344 c.1117_1119delTGTinsGGG p.Cys373Gly missense Absent 2020 32682923 36268026  
345 c.1117_1119delTGTinsGGG p.Cys373Gly missense Absent 2020 32682923 36268026  
346 c.1117_1119delTGTinsGGG p.Cys373Gly missense Absent 2020 32682923    
347 c.1117_1119delTGTinsGGG p.Cys373Gly missense Absent 2020 32682923    
348 c.1085G>A p.Arg362Gln missense Absent 2020 32682923    
349 c.1085G>A p.Arg362Gln missense Absent 2020 32682923    
350 c.1085G>A p.Arg362Gln missense Absent 2020 32682923    
351 c.1085G>A p.Arg362Gln missense Absent 2020 32682923    
352 c.1085G>A p.Arg362Gln missense Absent 2020 32682923    
353 5'UTR deletion 5'UTR deletion interstitial deletion Absent 2014 24077845    
354 c.857C>T p.Ala286Val frameshift Absent 2017 28104920 29365323, 37406166  
355 c.988C>T p.Arg330X nonsense 6.8406E-07 2021 34469508 34469508  
356 c.303delC p.Ala103GlnfsX16 frameshift Absent 2016 26702063 34469508  
357 c.1018-11_1027del21 p.? splicing Absent 2016 26702063 26702063  
358 c.968dupA p.His323GlnfsX61 frameshift Absent 2016 26702063 26702063  
359 c.1046G>T p.Cys349Phe missense Absent 2016 26702063 26702063  
360 c.1066_1095del30 p.Thr356_Asp365del in frame deletion Absent 2016 26702063 26702063  
361 c.1035_1038dupCGGC p.Thr347ArgfsX38 frameshift Absent 2016 26702063 26702063  
362 c.1017+572C>T p.= regulatory Absent 2016 26702063 26702063  
363 c.1017+572C>T p.= regulatory Absent 2016 26702063 26702063  
364 c.1017+572C>T p.= regulatory Absent 2016 26702063 34469508  
365 c.222_229+6del14ins21 p.? splicing Absent 2016 26702063 27013649  
366 c.627_630dupCGGC p.Val211ArgfsX72 frameshift Absent 2016 26702063 26702063  
367 c.1084C>T p.Arg362X nonsense Absent 2016 26702063 26702063  
368 c.1113C>A p.Asn371Lys missense Absent 2016 26702063 26702063  
369 c.1054T>G p.Cys352Gly missense Absent 2016 26702063 26702063  
370 c.1110C>G p.Cys370Trp missense Absent 2016 26702063 26702063  
371 c.1186C>T p.Arg396Trp missense Absent 2016 26702063 26702063  
372 c.599dupG p.Ser201X nonsense Absent 2016 26702063 26702063  
373 c.416_417delCT p.Ser139CysfsX45 frameshift Absent 2016 26702063 26702063  
374 c.207_208delCG p.Val70LeufsX114 frameshift Absent 2016 26702063 34469508  
375 c.1341C>A p.Ser447Arg missense Absent 2016 26702063 26702063  
376 c.1082G>A p.Arg361His missense Absent 2016 26702063 26702063  
377 del3q21.2–21.3 (3.6Mb) del3q21.2–21.3 (3.6Mb) whole gene deletion Absent 2016 26702063 26702063  
378 c.1187G>A p.Arg396Gln missense Absent 2016 26702063 28642594  
379 c.599delG p.Gly200ValfsX18 frameshift Absent 2016 26702063 26702063  
380 c.1186C>T p.Arg396Trp missense Absent 2016 26702063 26702063  
381 c.1017+1delG p.? splicing Absent 2016 26702063 26702063  
382 c.1031_1049del19 p.Arg344LysfsX37  frameshift Absent 2016 26702063 26702063  
383 c.1017+532T>A p.= regulatory Absent 2016 26702063 26702063  
384 c.685delC p.Leu229CysfsX5 frameshift Absent 2016 26702063 26702063  
385 c.1192C>T p.Arg398Trp missense 1.59051E-06 2016 26702063 28642594  
386 c.1018-10_1037del30 p.? splicing Absent 2016 26702063 26702063  
387 c.981G>A p.Gly327Gly RNA deleterious 3.4203E-06 2023 38067298 38067298  
388 c.303delC p.Ala103GlnfsX16 frameshift Absent 2016 26702063 26702063  
389 c.306delA p.Ala103GlnfsX17 frameshift Absent 2016 26702063 26702063  
390 c.351C>G p.Thr117Thr (p.Val118GlnfsX55) frameshift Absent 2021 32555368 32555368  
391 c.1113C>G p.Asn371Lys missense Absent 2016 26702063 26702063  
392 c.599delG p.Gly200ValfsX18 frameshift Absent 2016 26702063 38067298  
393 c.1084C>T p.Arg362X nonsense Absent 2016 26702063 26702063  
394 c.1187G>A p.Arg396Gln missense Absent 2016 26702063 38067298, 34469508, 28642594  
395 c.1018-10_1037del30 p.? splicing Absent 2016 26702063 38067298  
396 c.932_937delinsG p.Thr311ArgfsX71 frameshift Absent 2016 26702063 26702063  
397 c.599dupG p.Ser201X nonsense Absent 2016 26702063 26702063  
398 c.1017+582G>T p.= regulatory Absent 2016 26702063 26702063  
399 c.1128C>G p.Tyr376X nonsense Absent 2016 26702063 38067298  
400 c.1113C>A p.Asn371Lys missense Absent 2016 26702063 38067298  
401 c.1143+1G>A p.? splicing Absent 2016 26702063 38067298  
402 c.1084C>T p.Arg362X nonsense Absent 2016 26702063 38067298  
403 c.1045T>A p.Cys349Ser missense Absent 2016 26702063 38067298  
404 c.1045T>A p.Cys349Ser missense Absent 2016 26702063 38067298  
405 c.1023C>T p.Ala341Ala RNA deleterious 5.7028E-05 2016 26702063 26702063  
406 c.1037_1046del10 p.Gly346ValfsX38 frameshift Absent 2023 38067298 38067298  
407 c.351C>G p.Thr117Thr (p.Val118GlnfsX55) frameshift Absent 2023 38067298 32555368, 38993648  
408 c.351C>G p.Thr117Thr (p.Val118GlnfsX55) frameshift Absent 2021 32555368 32555368  
409 c.599dupG p.Ser201X nonsense Absent 2023 38067298 38067298  
410 c.303delC p.Ala103GlnfsX16 frameshift Absent 2023 38067298 38067298  
411 c.1061C>T p.Thr354Met missense 6.84121E-07 2023 38067298 38067298  
412 c.1109G>T p.Cys370Phe missense Absent 2023 38067298 38993648  
413 c.341delA p.Asp114ThrfsX5 frameshift Absent 2023 38067298 38067298  
414 c.1084C>T p.Arg362X nonsense Absent 2023 38067298 38067298  
415 c.416_417delCT p.Ser139CysfsX45 frameshift Absent 2023 38067298 38067298  
416 c.448G>T p.Gly150X nonsense Absent 2023 38067298 38067298  
417 c.1243G>A p.Glu415Lys missense 5.47236E-06 2016 26702063 34469508  
418 c.802G>T p.Gly268X nonsense Absent 2016 26702063 26702063  
419 c.1018-2A>T p.? splicing Absent 2016 26702063 26702063  
420 c.970_994dup25 p.Leu332GlufsX60 frameshift Absent 2016 26702063 26702063  
421 c.1124del p.Leu375ProfsX12 frameshift Absent 2016 26702063 26702063  
422 c.1081C>T p.Arg361Cys missense 6.5703E-06 2016 26702063 26702063  
423 c.161C>A p.Ser54X nonsense Absent 2016 26702063 38067298  
424 c.1186C>T p.Arg396Trp missense Absent 2016 26702063 38067298  
425 c.1084C>T p.Arg362X nonsense Absent 2023 38067298 38067298  
426 c.414_417delCTCT p.Ser139CysfsX78 frameshift Absent 2023 38067298 38067298  
427 c.1215G>T p.Lys405Asn missense 3.42023E-06 2023 38067298 38067298  
428 c.1341C>A p.Ser447Arg missense Absent 2016 26702063 26702063  
429 c.1168A>G p.Lys390Glu  missense Absent 2016 26702063 34469508  
430 c.1069A>G p.Thr357Ala missense Absent 2016 26702063 34469508  
431 c.1069A>G p.Thr357Ala missense Absent 2016 26702063 26702063  
432 c.1021_1024dupGCCG p.Ala342GlyfsX43 frameshift Absent 2022 34893945 34893945  
433 c.1009C>T p.Arg337X nonsense Absent 2016 26702063 26702063  
434 c.599dupG p.Ser201X nonsense Absent 2016 26702063 26702063  
435 c.1187G>T p.Arg396Leu missense Absent 2023 36815365 36815365  
436 c.1187G>T p.Arg396Leu missense Absent 2023 36815365 36815365  
437 c.1187G>T p.Arg396Leu missense Absent 2023 36815365 36815365  
438 c.1036_1037insTCTGGCC p.Gly346SerfsX40 frameshift Absent 2023 36815365 36815365  
439 c.1061C>T p.Thr354Met missense 6.84121E-07 2023 36815365 36815365  
440 c.1163T>C p.Met388Thr missense Absent 2023 36815365 36815365  
441 c.1132A>T p.Lys378X nonsense Absent 2023 36815365 36815365  
442 c.1084C>T p.Arg362X nonsense Absent 2023 36815365 36815365  
443 c.818delG p.Gly273AspfsX53 frameshift Absent 2023 36815365 36815365  
444 c.782G>C p.Ser261Thr missense Absent 2023 36815365 36815365  
445 c.1187G>A p.Arg396Gln missense Absent 2016 26702063 26702063  
446 c.913C>G p.Leu305Val missense 1.59075E-06 2023 36815365 36815365  
447 c.1186C>T p.Arg396Trp missense Absent 2016 26702063 26702063  
448 c.1187G>A p.Arg396Gln missense Absent 2022 35273927 35273927  
449 c.1033_1060del p.Ala345ArgfsX33 frameshift Absent 2022 35273927 35273927  
450 c.1082G>A p.Arg361His missense Absent 2022 35273927 35273927  
451 c.1082G>A p.Arg361His missense Absent 2022 35273927 35273927  
452 c.1084C>T p.Arg362X nonsense Absent 2022 35273927 35273927  
453 c.1084C>T p.Arg362X nonsense Absent 2022 35273927 35273927  
454 c.1084C>T p.Arg362X nonsense Absent 2022 35273927 35273927  
455 c.1084C>T p.Arg362X nonsense Absent 2022 35273927 35273927  
456 c.1187G>A p.Arg396Gln missense Absent 2022 35273927 35273927  
457 c.1144-2A>C p.? splicing Absent 2022 35273927 35273927  
458 c.351C>G p.Thr117Thr (p.Val118GlnfsX55) frameshift Absent 2021 32555368 32555368  
459 c.1051A>G p.Asn351Asp missense Absent 2024 38290790    
460 c.140_177delinsGCCTCCTCAATCACCTCGACTCGCAGGGCAACCCCTAG p.Val47_Gly48delinsGlyLeuLeuAsnHisLeuAspSerGlyGlyAsnPro
delinsGLL;Y59X		 nonsense Absent 2018 29724903 36727400  
461 c.229+13_229+14insGCCins203_229+13 p.? splicing Absent 2018 29724903    
462 c.229+13_229+14insGCCins203_229+13 p.? splicing Absent 2018 29724903    
463 c.317_318del p.Ser106CysfsX78 frameshift Absent 2018 29724903 36727400  
464 c.353del p.Val118GlyfsX100 frameshift Absent 2018 29724903    
465 c.423C>A p.Tyr141X nonsense Absent 2018 29724903    
466 c.437del p.Gly146ValfsX72 frameshift Absent 2018 29724903    
467 c.538G>T p.Glu180X nonsense Absent 2018 29724903    
468 c.610C>T p.Arg204X nonsense Absent 2013 23223431 29724903, 36727400, 39497062  
469 c.670G>T p.Glu224X nonsense Absent 2013 23223431 29724903  
470 c.890A>G p.Asn297Ser missense 1.59121E-06 2018 29724903    
471 c.915_916del p.Trp306AlafsX77 frameshift Absent 2018 29724903 36727400  
472 c.937C>T p.His313Tyr missense 6.56953E-06 2018 29724903    
473 c.941_951del p.Tyr314CysfsX66 frameshift Absent 2018 29724903    
474 c.944T>C p.Leu315Phe missense Absent 2018 29724903 26710799  
475 c.1020_1029dup p.Arg344GlyfsX43 frameshift Absent 2018 29724903 36727400  
476 c.1023dup p.Ala342ArgfsX42 frameshift Absent 2018 29724903 36727400  
477 c.1045T>C p.Cys349Arg missense Absent 2018 29724903    
478 c.1009C>T p.Arg337X nonsense Absent 2011 21892158 28747912  
479 c.1019_1022delCGGC p.Ala341ProfsX45 frameshift Absent 2011 21892158    
480 c.1018-3_1031del17 p.Ala341ArgfsX38 frameshift Absent 2011 21892158    
481 c.1117T>C p.Cys373Arg missense Absent 2011 21892158    
482 c.1082G>C p.Arg361Leu missense Absent 2011 21892158 37406166  
483 c.579_580insA p.Ala194SerfsX8 frameshift Absent 2011 21892158    
484 c.1187G>A p.Arg396Gln missense Absent 2016 27013649 28642594  
485 c.391_395del7 p.? frameshift Absent 2016 27013649    
486 c.1017+572C>T p.= regulatory Absent 2016 27013649    
487 c.1066_1095del30 p.Thr356_Asp365del in frame deletion Absent 2016 27013649    
488 c.1035_1038dupCGGC p.Thr347ArgfsX38 frameshift Absent 2016 27013649    
489 c.1128C>G p.Tyr376X nonsense Absent 2016 27013649    
490 c.1114G>A p.Ala372Thr missense 1.5907E-06 2014 24345756    
491 c.1192C>T p.Arg398Trp missense 1.59051E-06 2014 24345756 28642594  
492 c.257_258delGC p.Cys85fsX? frameshift Absent 2014 24345756    
493 c.1018-1G>A p.340_381del RNA deleterious Absent 2014 24345756    
494 c.735dup p.Ile246HisfsX36 frameshift Absent 2014 24345756    
495 c.1081C>T p.Arg361Cys missense 6.5703E-06 2014 24345756    
496 c.1081-3_1031del17 p.Ala341fsX? frameshift Absent 2014 24345756    
497 c.989_992dup p.Leu332ThrfsX53 frameshift Absent 2012 22147895 24227816  
498 c.1017+2T>G p.? splicing Absent 2012 22147895    
499 c.1060A>C p.Thr354Pro missense Absent 2018 29724903    
500 c.1061C>G p.Thr354Met missense 6.84121E-07 2018 29724903 39497062  
501 c.1070C>T p.Thr357Ile missense Absent 2018 29724903    
502 c.1076T>C p.Leu359Ser missense Absent 2018 29724903 36727400  
503 c.1077_1082dup p.Trp360_Arg361dup in frame duplication Absent 2018 29724903    
504 c.1081C>G p.Arg361Gly missense Absent 2018 29724903    
505 c.1082G>A p.Arg361His missense Absent 2018 29724903 36727400  
506 c.1082G>A p.Arg361His missense Absent 2018 29724903    
507 c.1084C>T p.Arg362X nonsense Absent 2018 29724903    
508 c.1084C>T p.Arg362X nonsense Absent 2018 29724903    
509 c.1084C>T p.Arg362X nonsense Absent 2018 29724903 36727400  
510 c.1084C>T p.Arg362X nonsense Absent 2018 29724903 36727400  
511 c.1103_1104del p.Pro368ArgfsX15 frameshift Absent 2018 29724903    
512 c.1114G>A p.Ala372Thr missense 1.5907E-06 2018 29724903    
513 c.1114G>A p.Ala372Thr missense 1.5907E-06 2018 29724903    
514 c.1118G>A p.Cys373Tyr missense Absent 2018 29724903 36727400  
515 c.1142del p.Asn381MetfsX6 frameshift Absent 2018 29724903 36727400, 39497062  
516 c.1143+5G>C p.? splicing Absent 2018 29724903    
517 c.1186C>T p.Arg396Trp missense Absent 2018 29724903    
518 c.1186C>T p.Arg396Trp missense Absent 2018 29724903    
519 c.1192C>T p.Arg398Trp missense 1.59051E-06 2018 29724903    
520 c.1193G>A p.Arg398Gln missense 2.05221E-06 2018 29724903    
521 c.1-?_1443+?del p.? whole gene deletion Absent 2018 29724903    
522 c.1-?_1443+?del p.? whole gene deletion Absent 2018 29724903    
523 del3q21 del3q21 whole gene deletion Absent 2018 29724903    
524 c.1-?_1443+?del p.? whole gene deletion Absent 2018 29724903    
525 c.1017+699insT p.= regulatory Absent 2016 26702063    
526 c.17_18del p.Glu6AlafsX178 frameshift Absent 2019 31340620    
527 c.303delC p.Ala103GlnfsX16 frameshift Absent 2019 31340620    
528 c.1019del p.Ser340TrpfsX47 frameshift Absent 2019 31340620    
529 NA p.Arg344LysfsX40 frameshift Absent 2019 31340620    
530 c.1023_1038dup p.Thr347ArgfsX42 frameshift Absent 2019 31340620    
531 c.1055G>T p.Cys352Phe missense Absent 2019 31340620    
532 c.1124del p.Leu375ProfsX12 frameshift Absent 2019 31340620    
533 c.1160C>A p.Thr387Asn missense 6.57263E-06 2019 31340620    
534 c.1200_1216dup p.Lys406SerfsX77 frameshift Absent 2019 31340620    
535* c.77A>C p.His26Pro missense Absent 2013 23563236    
535* c.83delG p.Gly28AlafsX52 frameshift Absent 2013 23563236    
536* c.77A>C p.His26Pro missense Absent 2013 23563236    
536* c.83delG p.Gly28AlafsX52 frameshift Absent 2013 23563236    
537* c.77A>C p.His26Pro missense Absent 2013 23563236    
537* c.83delG p.Gly28AlafsX52 frameshift Absent 2013 23563236    
538* c.77A>C p.His26Pro missense Absent 2013 23563236    
538* c.83delG p.Gly28AlafsX52 frameshift Absent 2013 23563236    
539* c.77A>C p.His26Pro missense Absent 2013 23563236    
539* c.83delG p.Gly28AlafsX52 frameshift Absent 2013 23563236    
540 NA NA uniallelic expression of GATA2 Absent 2014 24227816 20040766, 23502222  
541 c.351C>G p.Thr117Thr (p.Val118GlnfsX55) frameshift Absent 2018 30030275    
542 c.351C>G p.Thr117Thr (p.Val118GlnfsX55) frameshift Absent 2018 30030275    
543 c.404dup p.Gly136ArgfsX49 frameshift Absent 2015 26716079    
544 c.982C>T p.Gln328X nonsense Absent 2021 33510405    
545 c.1061C>T p.Thr354Met missense 6.84121E-07 2021 33510405    
546 NA NA exon 4 deletion Absent 2021 33510405    
547 c.735dup p.Ile246HisfsX36 frameshift Absent 2018 29279357    
548 c.593del p.Ala198GlyfsX20 frameshift Absent 2019 30564229    
549 c.1172_1175del p.Glu391GlyfsX85 frameshift Absent 2019 30564229 39497062  
550 c.599dupG p.Ser201X nonsense Absent 2013 23443460    
551 c.1281dup p.Phe428LeufsX108 frameshift Absent 2013 23443460    
552 c.599dupG p.Ser201X nonsense Absent 2021 33417088    
553 c.599dupG p.Ser201X nonsense Absent 2021 33417088    
554 c.599dupG p.Ser201X nonsense Absent 2021 33417088    
555 c.599dupG p.Ser201X nonsense Absent 2021 33417088    
556 c.915_916del p.Trp306AlafsX77 frameshift Absent 2021 33417088    
557 c.988C>T p.Arg330X nonsense 6.8406E-07 2021 33417088    
558 c.1035_1036insTCTGGCC p.Gly346SerfsX40 frameshift Absent 2021 33417088 39497062  
559 c.1099dup p.Asp367GlyfsX15  frameshift Absent 2021 33417088    
560 c.1143+2T>A p.? splicing Absent 2021 33417088    
561 c.1163T>C p.Met388Thr missense Absent 2021 33417088    
562 c.1163T>C p.Met388Thr missense Absent 2021 33417088    
563 c.1186C>T p.Arg396Trp missense Absent 2021 33417088    
564 c.1187G>A p.Arg396Gln missense Absent 2021 33417088    
565 c.1192C>T p.Arg398Trp missense 1.59051E-06 2021 33417088    
566 c.414_417delCTCT p.Ser139CysfsX78 frameshift Absent 2016 29906059 37837580  
567 c.1017+2T>G p.? splicing Absent 2012 22147895    
568 c.1-200_871+527del2033 p.Met1del290 in frame deletion Absent 2012 22147895 20040766, 21670465  
569 c.1054del p.Cys352ValfsX35 frameshift Absent 2016 26767875    
570 c.892dupT p.Cys298LeufsX86 frameshift Absent 2015 26022708    
571 c.1018-? del ZF2 & C-terminus interstitial deletion Absent 2018 29680795    
572 c.869C>A p.Ser290X nonsense Absent 2017 29230432    
573 c.561dup p.Thr188HisfsX14 frameshift Absent 2020 32088370    
574 c.817_818del p.Gly273ThrfsX8 frameshift Absent 2020 32088370    
575 c.817_818del p.Gly273ThrfsX8 frameshift Absent 2020 32088370    
576 c.818dupG p.Pro274ThrfsX8 frameshift Absent 2020 32088370    
577 c.1017+572C>T p.= regulatory Absent 2020 32088370    
578 c.1024_1026del p.Ala342del in frame deletion Absent 2020 32088370    
579 c.1024_1026del p.Ala342del in frame deletion Absent 2020 32088370    
580 c.1052A>G p.Asn351Ser missense Absent 2020 32088370    
581 c.1113C>A p.Asn371Lys missense Absent 2020 32088370    
582 c.1113C>A p.Asn371Lys missense Absent 2020 32088370    
583 c.1113del p.Asn371LysfsX16 frameshift Absent 2020 32088370    
584 c.1187G>A p.Arg396Gln missense Absent 2020 32088370    
585 c.1187G>A p.Arg396Gln missense Absent 2020 32088370    
586 c.1187G>A p.Arg396Gln missense Absent 2020 32088370    
587 c.1187G>A p.Arg396Gln missense Absent 2020 32088370    
588 c.988C>T p.Arg330X nonsense 6.8406E-07 2020 33370941    
589 c.1082G>A p.Arg361His missense Absent 2015 25239263    
590 c.1084C>T p.Arg362X nonsense Absent 2015 25239263    
591 c.1084C>T p.Arg362X nonsense Absent 2015 25239263    
592 c.1082G>A p.Arg361His missense Absent 2017 28602958    
593 c.1072_1074delACC p.Thr358del in frame deletion Absent 2017 28602958    
594 c.1017+2T>C p.Ser340AlafsX49 frameshift Absent 2018 29178327    
595 c.1084C>T p.Arg362X nonsense Absent 2018 28440875    
596 c.1020_1029dup p.Arg344GlyfsX43 frameshift Absent 2018 28440875 27799394  
597 c.1060A>C p.Thr354Pro missense Absent 2018 28440875    
598 c.1017+572C>T p.= regulatory Absent 2016 27232273    
599 c.1143+5G>A p.? splicing Absent 2018 27577878 34893945  
600 c.1143+5G>A p.? splicing Absent 2018 27577878 34893945  
601 c.1061C>T p.Thr354Met missense 6.84121E-07 2018 27577878 34893945  
602 c.1078T>A p.Trp360Arg missense Absent 2018 27577878 34893945  
603 c.1062_1064del p.Thr358del in frame deletion Absent 2022 34893945    
604 c.1062_1064del p.Thr358del in frame deletion Absent 2022 34893945    
605 c.1062_1064del p.Thr358del in frame deletion Absent 2022 34893945    
606 c.1017+1G>T p.? splicing Absent 2022 34893945    
607 c.163C>T p.Gln55X nonsense Absent 2022 34893945    
608 c.1084C>T p.Arg362X nonsense Absent 2022 34893945    
609 c.1084C>T p.Arg362X nonsense Absent 2022 34893945    
610 c.1098_1100delGGA p.Asp367del in frame deletion Absent 2022 34893945    
611 c.1114G>A p.Ala372Thr missense 1.5907E-06 2022 34893945    
612 c.1339A>C p.Ser447Arg missense Absent 2019 31256854    
613 c.1339A>C p.Ser447Arg missense Absent 2019 31256854    
614 c.1187G>A p.Arg396Gln missense Absent 2019 31256854    
615 NA NA deletion Absent 2019 31256854    
616 c.1192C>T p.Arg398Trp missense 1.59051E-06 2019 31256854    
617 c.1339A>C p.Ser447Arg missense Absent 2019 31256854    
618 c.256del p.Arg86AlafsX33 frameshift Absent 2019 31203817    
619 c.1078T>A p.Trp360Arg missense Absent 2017 28126493    
620 c.599delG p.Gly200ValfsX18 frameshift Absent 2023 36727400    
621 c.1192C>T p.Arg398Trp missense 1.59051E-06 2023 36727400    
622 c.257_258delGC p.Cys85fsX? frameshift Absent 2016 27481672 36727400  
623 c.1018-1G>A p.340_381del RNA deleterious Absent 2023 36727400    
624 c.1081C>T p.Arg361Cys missense 6.5703E-06 2023 36727400    
625 c.1045T>G p.Cys349Gly missense Absent 2023 36727400    
626 c.1061C>T p.Thr354Met missense 6.84121E-07 2023 36727400    
627 c.1061C>T p.Thr354Met missense 6.84121E-07 2023 36727400    
628 c.1061C>T p.Thr354Met missense 6.84121E-07 2023 36727400    
629 c.1114G>A p.Ala372Thr missense 1.5907E-06 2023 36727400    
630 c.593del p.Ala198GlyfsX20 frameshift Absent 2023 36727400    
631 c.988C>T p.Arg330X nonsense 6.8406E-07 2023 36727400    
632 c.1192C>T p.Arg398Trp missense 1.59051E-06 2023 36727400    
633 c.1124T>G p.Leu375Arg missense Absent 2023 36727400    
634 c.351C>G p.Thr117Thr (p.Val118GlnfsX55) frameshift Absent 2023 36727400    
635 whole gene deletion whole gene deletion whole gene deletion Absent 2023 36727400    
636 c.1113C>A p.Asn371Lys missense Absent 2023 36727400    
637 c.599dupG p.Ser201X nonsense Absent 2023 36727400    
638 c.599dupG p.Ser201X nonsense Absent 2023 36727400    
639 c.1115C>T p.Ala372Val missense Absent 2023 36727400    
640 c.1115C>T p.Ala372Val missense Absent 2023 36727400    
641 c.1115C>T p.Ala372Val missense Absent 2023 36727400    
642 c.1061C>T p.Thr354Met missense 6.84121E-07 2023 36727400    
643 c.1073C>A p.Thr358Asn missense Absent 2023 36727400    
644 c.1073C>A p.Thr358Asn missense Absent 2023 36727400    
645 c.1073C>A p.Thr358Asn missense Absent 2023 36727400    
646 c.1046G>A p.Cys349Tyr missense Absent 2023 36727400    
647 c.1008del p.Lys336AsnfsX51 frameshift Absent 2023 36727400    
648 c.1076T>C p.Leu359Ser missense Absent 2023 36727400    
649 c.1082G>A p.Arg361His missense Absent 2023 36727400    
650 c.1017+534_1017+537delinsCGGATAAGGACATTCCTATCCG p.= regulatory Absent 2023 36727400    
651 c.1061C>T p.Thr354Met missense 6.84121E-07 2023 36727400    
652 c.976_979dup p.Gly327GlufsX58 frameshift Absent 2023 36727400    
653 c.1076T>C p.Leu359Ser missense Absent 2023 36727400    
654 c.1114G>A p.Ala372Thr missense 1.5907E-06 2023 36727400    
655 c.1084del p.Arg362GlufsX25 frameshift Absent 2023 36727400    
656 c.1045dup p.Cys349LeufsX35 frameshift Absent 2023 36727400    
657 c.728_729del p.His243ProfsX38 frameshift Absent 2023 36727400    
658 c.400_422delinsTGAGGGTGGGAG p.Pro134fsX frameshift Absent 2023 36727400    
659 c.194_195del p.His65ArgfsX119 frameshift Absent 2023 36727400    
660 c.1082G>A p.Arg361His missense Absent 2023 36727400    
661 c.1061C>T p.Thr354Met missense 6.84121E-07 2023 36727400    
662 c.112C>T p.Gln38X nonsense Absent 2023 36727400    
663 exon 5 and 6 deletion exon 5 and 6 deletion deletion Absent 2023 36727400    
664 c.1061C>T p.Thr354Met missense 6.84121E-07 2023 36727400    
665 c.1118G>A p.Cys373Tyr missense Absent 2023 36727400    
666 c.1061dup p.Thr355AspfsX29 frameshift Absent 2023 36727400    
667 c.1084C>T p.Arg362X nonsense Absent 2023 36727400    
668 c.367_370del p.Lys123ArgfsX94 frameshift Absent 2023 36727400    
669 c.400_422delinsTGAGGGTGGGAG p.Pro134fsX frameshift Absent 2023 36727400    
670 c.710del p.Gly237AlafsX89 frameshift Absent 2017 28747912 25955867  
671 c.1132A>T p.Lys378X nonsense Absent 2017 28747912    
672 c.1081C>T p.Arg361Cys missense 6.5703E-06 2020 32135276    
673 c.1054T>C p.Cys352Arg missense Absent 2017 28104920    
674 c.1081C>G p.Arg361Gly missense Absent 2017 28104920    
675 c.1084C>T p.Arg362X nonsense Absent 2017 28104920    
676 c.1192C>T p.Arg398Trp missense 1.59051E-06 2017 28104920    
677 c.1045T>G p.Cys349Gly missense Absent 2018 29947977    
678 c.988C>T p.Arg330X nonsense 6.8406E-07 2014 24578498    
679 c.1009C>T p.Arg337X nonsense Absent 2017 27894982    
680 c.1009C>T p.Arg337X nonsense Absent 2021 33684095 39497062  
681 exon 4 deletion exon 4 deletion deletion Absent 2018 29365323    
682 c.1017+572C>T p.= regulatory Absent 2015 26492932    
683 c.1017+572C>T p.= regulatory Absent 2015 26492932    
684 c.1017+572C>T p.= regulatory Absent 2015 26492932    
685 c.1017+572C>T p.= regulatory Absent 2015 26492932    
686 c.1192C>T p.Arg398Trp missense 1.59051E-06 2015 26492932 28642594  
687 monoallelic deletion monoallelic deletion deletion Absent 2018 29620682    
688 c.1021_1031del p.Ala341SerfsX39 frameshift Absent 2021 33957466    
689 c.1021_1031del p.Ala341SerfsX39 frameshift Absent 2021 33957466    
690 c.1021_1031del p.Ala341SerfsX39 frameshift Absent 2021 33957466    
691 c.1017+572C>T p.= regulatory Absent 2015 25359990    
692 c.1017+572C>T p.= regulatory Absent 2020 31710708    
693 c.1099del p.Asp367ThrfsX20 frameshift Absent 2020 31710708    
694 whole gene deletion whole gene deletion whole gene deletion Absent 2020 31710708    
695 c.1061C>T p.Thr354Met missense 6.84121E-07 2020 31350183 39497062  
696 c.1061C>T p.Thr354Met missense 6.84121E-07 2011 21670465    
697 c.1061C>T p.Thr354Met missense 6.84121E-07 2016 27288520    
698 deletion 3q13.2-q21.3 deletion 3q13.2-q21.3 whole gene deletion Absent 2015 25619630    
699 deletion 3q21 deletion 3q21 whole gene deletion Absent 2015 25619630    
700* c.1073C>A p.Thr358Asn missense Absent 2014 24754962 25676417  
700* c.1075T>G p.Leu359Val missense Absent 2014 24754962 25676417  
701 c.1084C>T p.Arg362X nonsense Absent 2019 30894283    
702 c.1084C>T p.Arg362X nonsense Absent 2020 33363905    
703 c.1113C>A p.Asn371Lys missense Absent 2014 25326637    
704 c.1129T>G p.Tyr377Asp missense Absent 2015 26264606    
705 c.1192C>T p.Arg398Trp missense 1.59051E-06 2015 26264606 28642594  
706 c.1114G>A p.Ala372Thr missense 1.5907E-06 2016 26710799    
707 c.1143+5G>C p.? splicing Absent 2016 26710799    
708 c.1143+200_1198del p.Asn381fsX frameshift Absent 2017 28373026    
709 c.1123C>T p.Leu375Phe missense Absent 2017 29146900    
710 c.1126_1133dup p.Lys378AsnfsX12 frameshift Absent 2021 33759087    
711 c.1126_1133dup p.Lys378AsnfsX12 frameshift Absent 2021 33759087    
712 c.1187G>A p.Arg396Gln missense Absent 2012 22430350 28642594  
713 c.1187G>A p.Arg396Gln missense Absent 2015 25624456    
714 c.599dupG p.Ser201X nonsense Absent 2017 28209719    
715 c.803delG p.? frameshift Absent 2017 28209719    
716 c.1017+572C>T p.= regulatory Absent 2017 28209719    
717 c.1018-1G>T p.? splicing Absent 2017 28209719    
718 c.1143+5G>A p.? splicing Absent 2017 28209719    
719 c.1186C>T p.Arg396Trp missense Absent 2017 28209719    
720 c.1186C>T p.Arg396Trp missense Absent 2017 28209719    
721 c.1187G>A p.Arg396Gln missense Absent 2017 28209719    
722 c.1192C>T p.Arg398Trp missense 1.59051E-06 2017 28209719    
723 c.1193G>A p.Arg398Gln missense 2.05221E-06 2017 28209719    
724 c.1017+572C>T p.= regulatory Absent 2017 28209719    
725 c.1017+572C>T p.= regulatory Absent 2017 28209719    
726 c.1193G>A p.Arg398Gln missense 2.05221E-06 2017 28209719    
727 c.206_208delGCGinsT p.Arg69LeufsX115 frameshift Absent 2021 34387894    
728 c.351C>G p.Thr117Thr (p.Val118GlnfsX55) frameshift Absent 2021 34387894    
729 c.1017+572C>T p.= regulatory Absent 2021 34387894    
730 c.1186C>T p.Arg396Trp missense Absent 2021 34387894    
731 c.1322_1325dup p.His442GlnfsX95 frameshift Absent 2021 34387894    
732 c.1018-?_1443+?del del ZF2 & C-terminus deletion Absent 2021 34387894    
733 c.1113C>G p.Asn371Lys missense Absent 2023 36357187    
734 c.1083_1094del12 p.Arg361del4ArgAsnAlaAsn in frame deletion Absent 2023 36357187    
735 c.898dupG p.Ala300GfsX83 frameshift Absent 2023 36357187    
736 c.1186C>T p.Arg396Trp missense Absent 2023 36357187    
737 c.1017+572C>T p.= regulatory Absent 2023 36357187    
738 c.1192C>T p.Arg398Trp missense 1.59051E-06 2023 36357187    
739 c.715C>T p.Gly239X nonsense Absent 2023 36357187    
740 uniallelic expression of GATA2 uniallelic expression of GATA2 uniallelic expression of GATA2 Absent 2023 36357187    
741 c.1168_1170delAAG p.390delLys in frame deletion Absent 2018 29669757    
742* c.1099insG p.Asp367fsX frameshift Absent 2013 23502222    
742* c.1-276T>G p.= regulatory Absent 2013 23502222    
743 c.1187G>A p.Arg396Gln missense Absent 2023 37837580    
744 c.503_504insGCTC p.His169LeufsX17 frameshift Absent 2023 37837580    
745 c.1017+572C>T p.= regulatory Absent 2023 37837580    
746 c.1215G>T p.Lys405Asn missense 3.42023E-06 2023 37837580    
747 c.112C>T p.Gln38X nonsense Absent 2023 37837580    
748 c.919C>T p.Arg307Trp missense Absent 2023 37837580    
749 c.1084C>T p.Arg362X nonsense Absent 2023 37837580    
750 c.1079G>A p.Trp360X nonsense Absent 2023 37837580    
751 c.1084C>T p.Arg362X nonsense Absent 2023 37837580    
752 c.1186C>T p.Arg396Trp missense Absent 2023 37837580    
753 c.1215G>T p.Lys405Asn missense 3.42023E-06 2023 37837580    
754 c.1186C>T p.Arg396Trp missense Absent 2023 37837580    
755 intron 4 deletion intron 4 deletion regulatory Absent 2023 37837580    
756 c.1084C>G p.Arg362Gly missense Absent 2023 37837580    
757 c.1186C>T p.Arg396Trp missense Absent 2023 37837580    
758 c.1046G>A p.Cys349Tyr missense Absent 2023 37837580    
759 NA NA nonsense Absent 2023 37837580    
760 NA NA nonsense Absent 2023 37837580    
761 c.1057C>T p.Gln353X nonsense Absent 2023 37837580    
762 c.1186C>T p.Arg396Trp missense Absent 2023 37837580    
763 c.503_504insGCTC p.His169LeufsX17 frameshift Absent 2023 37837580    
764 c.1215G>T p.Lys405Asn missense 3.42023E-06 2023 37837580    
765 c.1046G>A p.Cys349Tyr missense Absent 2023 37837580    
766 c.1009C>T p.Arg337X nonsense Absent 2023 37837580    
767 c.1150A>G p.Arg384Gly missense Absent 2023 37837580    
768 c.372_373insT p.Pro125SerfsX60 frameshift Absent 2023 37837580 39015540  
769 c.1009C>T p.Arg337X nonsense Absent 2023 37837580    
770 c.1009C>T p.Arg337X nonsense Absent 2023 37837580    
771 c.257_258delGC p.Cys85fsX? frameshift Absent 2023 37837580    
772 c.649C>T p.Leu217Leu RNA deleterious 1.73472E-05 2020 32555368    
773 c.950A>G p.Asn317Ser missense Absent 2021 33560389    
774 c.121C>G p.Pro41Ala missense 0.000713016 2018 29365323    
775 c.121C>G p.Pro41Ala missense 0.000713016 2018 29797310    
776 c.1024G>A p.Ala342Thr missense 2.16938E-05 2014 24033149    
777 c.1086_1087ins63 p.Asn363delins22 frameshift Absent 2019 31340620    
778 c.1143+8C>T p.? splicing 4.46743E-05 2021 33715335    
779 c.1286G>C p.Ser429Thr missense 1.73456E-05 2019 31340620    
780 c.610C>T p.Arg204X nonsense Absent 2021 33410496 39497062  
781 c.1186C>T p.Arg396Trp missense Absent 2018 29412158    
782 c.1123delinsCT p.Leu375Ser missense Absent 2018 29412158    
783 c.1084C>T p.Arg362X nonsense Absent 2018 29412158    
784 c.1186C>T p.Arg396Trp missense Absent 2018 29412158    
785 c.1017+572C>T p.= regulatory Absent 2018 29412158    
786 c.1009C>T p.Arg337X nonsense Absent 2018 29412158    
787 c.1021delG p.Ala341ProfsX46 frameshift Absent 2018 29412158    
788 c.803delG p.? frameshift Absent 2018 29412158    
789 c.1186C>T p.Arg396Trp missense Absent 2018 29412158    
790 c.1187G>A p.Arg396Gln missense Absent 2018 29412158 39497062  
791 c.1187G>A p.Arg396Gln missense Absent 2023 36740376    
792 c.1061C>T p.Thr354Met missense 6.84121E-07 2022 36726998    
793 c.1009C>T p.Arg337X nonsense Absent 2023 37799757    
794 GATA2 haploinsufficiency GATA2 haploinsufficiency GATA2 haploinsufficiency Absent 2022 34793614    
795 c.1047T>G p.Cys349Trp missense Absent 2022 35983050    
796* c.1073C>T p.Thr358Ile missense Absent 2023 36815365    
796* c.445G>A p.Gly149Arg missense 5.81858E-05 2023 36815365    
797 c.1156_1157insAC p.Leu386HisfsX2 frameshift Absent 2023 36815365    
798 c.1035_1036insTCGGCGGCC p.Gly346insSerAlaAla in frame insertion Absent 2023 36815365    
799 c.1163T>C p.Met388Thr missense Absent 2023 36815365    
800 c.1163T>C p.Met388Thr missense Absent 2023 36815365    
801 c.1163T>C p.Met388Thr missense Absent 2023 36815365    
802 c.351C>G p.Thr117Thr (p.Val118GlnfsX55) frameshift Absent 2023 36815365    
803 c.1114G>A p.Ala372Thr missense 1.5907E-06 2024 38993648    
804 c.229+1dupG p.? splicing Absent 2024 38993648    
805 c.1192C>T p.Arg398Trp missense 1.59051E-06 2024 38993648    
806 exon 4 deletion exon 4 deletion deletion Absent 2023 38993648    
807 c.857C>T p.Ala286Val frameshift Absent 2017 28104920 29365323, 37406166  
808 c.630_643del p.Lys212ThrfsX? frameshift Absent 2023 37406166    
809 c.1082G>C p.Arg361Leu missense Absent 2023 37406166    
810 c.1082G>C p.Arg361Leu missense Absent 2023 37406166    
811 c.1017+572C>T p.= regulatory Absent 2015 26492932    
812 c.1017+572C>T p.= regulatory Absent 2023 37406166    
813 c.1017+572C>T p.= regulatory Absent 2023 37406166    
814 c.1017+572C>T p.= regulatory Absent 2023 37406166    
815 c.1017+572C>T p.= regulatory Absent 2023 37406166    
816 c.1017+572C>T p.= regulatory Absent 2023 37406166    
817 c.1017+572C>T p.= regulatory Absent 2023 37406166    
818 GATA2 haploinsufficiency GATA2 deficiency GATA2 haploinsufficiency Absent 2024 38317027    
819 c.1009C>T p.Arg337X nonsense Absent 2024 38205536    
820 c.1009C>T p.Arg337X nonsense Absent 2024 38205536    
821 c.1082G>A p.Arg361His missense Absent 2023 38137719    
822 c.1168_1170delAAG p.390delLys in frame deletion Absent 2023 38137719    
823 c.423_426del p.Tyr141fsX? frameshift Absent 2023 38137719    
824 GATA2 haploinsufficiency GATA2 haploinsufficiency GATA2 haploinsufficiency Absent 2023 37970879    
825 c.1186C>T p.Arg396Trp missense Absent 2024 37802913    
826 c.599dupG p.Ser201X nonsense Absent 2023 37680631 39497062  
827 c.1081C>T p.Arg361Cys missense 6.5703E-06 2024 37641896    
828 -110 region enhancer A>T -110 region enhancer A>T regulatory Absent 2023 37595058    
829 -110 region enhancer A>T -110 region enhancer A>T regulatory Absent 2023 37595058    
830 c.1045T>A p.Cys349Ser missense Absent 2023 38067298    
831 GATA2 haploinsufficiency GATA2 deficiency GATA2 haploinsufficiency Absent 2023 37727920    
832 GATA2 locus duplication GATA2 locus duplication GATA2 locus duplication Absent 2021 34638133    
833 uniallelic expression of GATA2 uniallelic expression of GATA2 uniallelic expression of GATA2 Absent 2014 25111582 27169477, 29375553, 39497062  
834 c.1114G>A p.Ala372Thr missense 1.5907E-06 2024 38730328 39497062  
835 c.1150A>G p.Arg384Gly missense Absent 2024 38730328 39497062  
836 c.1187G>A p.Arg396Gln missense Absent 2024 38730328 39497062  
837 c.177C>A p.Tyr59X nonsense Absent 2021 34040617 39497062  
838 c.1009C>T p.Arg337X nonsense Absent 2021 34473915 39497062  
839 c.1077_1078insA p.Trp360MetfsX24 frameshift Absent 2018 29493060 39497062  
840 NA p.Arg230HisfsX44 frameshift Absent 2018 29618691 39497062  
841 NA NA null allelic loss Absent 2018 28093780 29375553  
842 c.1081C>T p.Arg361Cys missense 6.5703E-06 2024 39328578    
843 c.1180C>T p.Gln394X nonsense Absent 2024 39221430    
844 10.4 Mb interstitial deletion on 3q12.33q22.1 10.4 Mb interstitial deletion on 3q12.33q22.1 whole gene deletion Absent 2024 38567931    
845 NA NA frameshift Absent 2024 38563709    
846 c.1114G>A p.Ala372Thr missense 1.5907E-06 2021 34051752    
847 c.354dup p.Ser119GlufsX66 frameshift Absent 2022 36119727    
848 c.917G>A p.Trp306X nonsense Absent 2024 38191334    
849 NA NA NA Absent 2024 38191334    
850 c.194_195insT p.Ala66ArgfsX119 frameshift Absent 2024 38951071    
851 NA NA NA Absent 2023 37550272    
852 c.1168_1170delAAG p.390delLys in frame deletion Absent 2022 35891688    
853 c.490G>A p.Ala164Thr missense 0.167105549 2023 37084069    
854 c.1341C>A p.Ser447Arg missense Absent 2024 39614632