1 |
GATA2 |
NC_000003.12:g.(?_128479422)_(128487076_?)del |
deletion |
Pathogenic |
417324 |
|
3:128198265-128205919 |
3:128479422-128487076 |
2 |
GATA2 |
NM_001145661.2(GATA2):c.1187G>A (p.Arg396Gln) |
SNV |
Pathogenic |
472437 |
rs1553770434 |
3:128200118-128200118 |
3:128481275-128481275 |
3 |
GATA2 |
NM_001145661.2(GATA2):c.890_903dup (p.Ala302fs) |
duplication |
Pathogenic |
566999 |
rs1559986109 |
3:128202816-128202817 |
3:128483973-128483974 |
4 |
GATA2 |
NM_001145661.2(GATA2):c.988C>T (p.Arg330Ter) |
SNV |
Pathogenic |
640197 |
|
3:128202732-128202732 |
3:128483889-128483889 |
5 |
GATA2 |
NM_032638.5(GATA2):c.971del (p.Lys324fs) |
deletion |
Pathogenic |
646586 |
|
3:128202749-128202749 |
3:128483906-128483906 |
6 |
GATA2 |
NM_001145661.2(GATA2):c.1017+572C>T |
SNV |
Pathogenic |
566562 |
rs1559985787 |
3:128202131-128202131 |
3:128483288-128483288 |
7 |
GATA2 |
NM_001145661.2(GATA2):c.818dup (p.Pro274fs) |
duplication |
Pathogenic |
574716 |
rs1559986946 |
3:128204622-128204623 |
3:128485779-128485780 |
8 |
GATA2 |
NC_000003.12:g.(?_128486793)_(128487041_?)del |
deletion |
Pathogenic |
657370 |
|
3:128205636-128205884 |
3:128486793-128487041 |
9 |
GATA2 |
NM_032638.5(GATA2):c.831del (p.Phe278fs) |
deletion |
Pathogenic |
802002 |
|
3:128204610-128204610 |
3:128485767-128485767 |
10 |
GATA2 |
NC_000003.12:g.(?_128480999)_(128912627_?)del |
deletion |
Pathogenic |
831903 |
|
3:128199842-128631470 |
|
11 |
GATA2 |
NM_032638.5(GATA2):c.216C>G (p.Tyr72Ter) |
SNV |
Pathogenic |
854097 |
|
3:128205659-128205659 |
3:128486816-128486816 |
12 |
GATA2 |
NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) |
SNV |
Pathogenic |
29711 |
rs387906631 |
3:128200744-128200744 |
3:128481901-128481901 |
13 |
GATA2 |
NM_032638.5(GATA2):c.312_313dup (p.Leu105fs) |
duplication |
Pathogenic |
29717 |
|
3:128205127-128205128 |
3:128486284-128486285 |
14 |
GATA2 |
NM_032638.5(GATA2):c.232dup (p.Arg78fs) |
duplication |
Pathogenic |
29718 |
|
3:128205208-128205209 |
3:128486365-128486366 |
15 |
GATA2 |
NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter) |
SNV |
Pathogenic |
29719 |
rs387906632 |
3:128202711-128202711 |
3:128483868-128483868 |
16 |
GATA2 |
NM_001145661.2(GATA2):c.1117T>C (p.Cys373Arg) |
SNV |
Pathogenic |
29720 |
rs387906633 |
3:128200688-128200688 |
3:128481845-128481845 |
17 |
GATA2 |
NM_001145661.2(GATA2):c.1082G>T (p.Arg361Leu) |
SNV |
Pathogenic |
29721 |
rs387906634 |
3:128200723-128200723 |
3:128481880-128481880 |
18 |
GATA2 |
NM_001145661.2(GATA2):c.1122_1125dup (p.Tyr376fs) |
duplication |
Pathogenic |
216932 |
rs863224874 |
3:128200679-128200680 |
3:128481836-128481837 |
19 |
GATA2 |
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) |
SNV |
Pathogenic/Likely pathogenic |
800674 |
|
3:128200778-128200778 |
3:128481935-128481935 |
20 |
GATA2 |
NM_001145661.2(GATA2):c.649_653dup (p.Glu219_Ser220insTer) |
duplication |
Pathogenic/Likely pathogenic |
539711 |
rs1553770949 |
3:128204787-128204788 |
3:128485944-128485945 |
21 |
GATA2 |
NM_001145661.2(GATA2):c.1084C>T (p.Arg362Ter) |
SNV |
Pathogenic/Likely pathogenic |
435281 |
rs1553770510 |
3:128200721-128200721 |
3:128481878-128481878 |
22 |
GATA2 |
NM_001145661.2(GATA2):c.1081C>T (p.Arg361Cys) |
SNV |
Likely pathogenic |
472431 |
rs1426175410 |
3:128200724-128200724 |
3:128481881-128481881 |
23 |
GATA2 |
NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr) |
SNV |
Likely pathogenic |
802000 |
|
3:128200759-128200759 |
3:128481916-128481916 |
24 |
GATA2 |
NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg) |
SNV |
Likely pathogenic |
802001 |
|
3:128200760-128200760 |
3:128481917-128481917 |
25 |
GATA2 |
NM_001145661.2(GATA2):c.1113C>A (p.Asn371Lys) |
SNV |
Likely pathogenic |
216931 |
rs376003468 |
3:128200692-128200692 |
3:128481849-128481849 |
26 |
GATA2 |
NM_001145661.2(GATA2):c.1021_1024dup (p.Ala342fs) |
duplication |
Likely pathogenic |
225277 |
rs869320770 |
3:128200780-128200781 |
3:128481937-128481938 |
27 |
GATA2 |
NM_001145661.2(GATA2):c.1085G>A (p.Arg362Gln) |
SNV |
Likely pathogenic |
623173 |
rs867160952 |
3:128200720-128200720 |
3:128481877-128481877 |
28 |
GATA2 |
NM_032638.5(GATA2):c.872-1G>C |
SNV |
Likely pathogenic |
835953 |
|
3:128202849-128202849 |
3:128484006-128484006 |
29 |
GATA2 |
NM_032638.5(GATA2):c.315C>G (p.Leu105=) |
SNV |
Conflicting interpretations of pathogenicity |
761606 |
|
3:128205126-128205126 |
3:128486283-128486283 |
30 |
GATA2 |
NM_001145661.2(GATA2):c.279G>A (p.Pro93=) |
SNV |
Conflicting interpretations of pathogenicity |
241722 |
rs142993548 |
3:128205162-128205162 |
3:128486319-128486319 |
31 |
GATA2 |
NM_001145661.2(GATA2):c.445G>A (p.Gly149Arg) |
SNV |
Conflicting interpretations of pathogenicity |
404080 |
rs753645971 |
3:128204996-128204996 |
3:128486153-128486153 |
32 |
GATA2 |
NM_001145661.2(GATA2):c.1035C>T (p.Ala345=) |
SNV |
Conflicting interpretations of pathogenicity |
412763 |
rs371599112 |
3:128200770-128200770 |
3:128481927-128481927 |
33 |
GATA2 |
NM_001145661.2(GATA2):c.1416G>A (p.Pro472=) |
SNV |
Conflicting interpretations of pathogenicity |
412762 |
rs376805544 |
3:128199889-128199889 |
3:128481046-128481046 |
34 |
GATA2 |
NM_001145661.2(GATA2):c.1286G>C (p.Ser429Thr) |
SNV |
Conflicting interpretations of pathogenicity |
404078 |
rs201155045 |
3:128200019-128200019 |
3:128481176-128481176 |
35 |
GATA2 |
NM_001145661.2(GATA2):c.1023C>T (p.Ala341=) |
SNV |
Conflicting interpretations of pathogenicity |
472427 |
rs376360090 |
3:128200782-128200782 |
3:128481939-128481939 |
36 |
GATA2 |
NM_001145661.2(GATA2):c.121C>G (p.Pro41Ala) |
SNV |
Conflicting interpretations of pathogenicity |
241716 |
rs143590990 |
3:128205754-128205754 |
3:128486911-128486911 |
37 |
GATA2 |
NM_001145661.2(GATA2):c.204G>T (p.Ala68=) |
SNV |
Conflicting interpretations of pathogenicity |
343140 |
rs886057932 |
3:128205671-128205671 |
3:128486828-128486828 |
38 |
GATA2 |
NM_001145661.2(GATA2):c.1326C>T (p.His442=) |
SNV |
Conflicting interpretations of pathogenicity |
343136 |
rs886057929 |
3:128199979-128199979 |
3:128481136-128481136 |
39 |
GATA2 |
NM_001145661.2(GATA2):c.724A>G (p.Thr242Ala) |
SNV |
Uncertain significance |
343138 |
rs886057931 |
3:128204717-128204717 |
3:128485874-128485874 |
40 |
GATA2 |
NM_001145661.2(GATA2):c.*884A>T |
SNV |
Uncertain significance |
343115 |
rs886057924 |
3:128198978-128198978 |
3:128480135-128480135 |
41 |
GATA2 |
NM_001145661.2(GATA2):c.*420G>A |
SNV |
Uncertain significance |
343125 |
rs557984557 |
3:128199442-128199442 |
3:128480599-128480599 |
42 |
GATA2 |
NM_001145661.2(GATA2):c.*84A>G |
SNV |
Uncertain significance |
343132 |
rs886057927 |
3:128199778-128199778 |
3:128480935-128480935 |
43 |
GATA2 |
NM_001145661.2(GATA2):c.800C>T (p.Pro267Leu) |
SNV |
Uncertain significance |
343137 |
rs886057930 |
3:128204641-128204641 |
3:128485798-128485798 |
44 |
GATA2 |
NM_001145661.2(GATA2):c.-5C>T |
SNV |
Uncertain significance |
343142 |
rs374415484 |
3:128205879-128205879 |
3:128487036-128487036 |
45 |
GATA2 |
NM_001145661.2(GATA2):c.*1543T>C |
SNV |
Uncertain significance |
343110 |
rs886057922 |
3:128198319-128198319 |
3:128479476-128479476 |
46 |
GATA2 |
NM_001145661.2(GATA2):c.*1144G>A |
SNV |
Uncertain significance |
343113 |
rs886057923 |
3:128198718-128198718 |
3:128479875-128479875 |
47 |
GATA2 |
NM_001145661.2(GATA2):c.-42C>G |
SNV |
Uncertain significance |
343143 |
rs886057933 |
3:128205916-128205916 |
3:128487073-128487073 |
48 |
GATA2 |
NM_032638.4(GATA2):c.-215C>T |
SNV |
Uncertain significance |
343147 |
rs886057936 |
3:128211911-128211911 |
3:128493068-128493068 |
49 |
GATA2 |
NM_001145661.2(GATA2):c.*174G>A |
SNV |
Uncertain significance |
343129 |
rs373617135 |
3:128199688-128199688 |
3:128480845-128480845 |
50 |
GATA2 |
NM_001145661.2(GATA2):c.*32C>T |
SNV |
Uncertain significance |
343134 |
rs374495352 |
3:128199830-128199830 |
3:128480987-128480987 |