| 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< |
