Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp)	SNV Germline/somatic	Chr3:128481270	Pathogenic	Leukemia, acute myeloid, susceptibility to Monocytopenia with susceptibility to infections Condition: not provided Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome Acute myeloid leukemia Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA128572	rs_387906629	9 SubmittersRCV000502442 RCV000022559 RCV000984831 RCV001384284 RCV000445214 RCV001541956 RCV004018663
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met)	SNV Germline/somatic	Chr3:128481901	Pathogenic	Monocytopenia with susceptibility to infections Leukemia, acute myeloid, susceptibility to Myelodysplastic syndrome Acute myeloid leukemia Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Condition: not provided Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML	Criteria Provided Multiple Submitters No Conflicts	CA128580	rs_387906631	6 SubmittersRCV000022561 RCV000022563 RCV000022562 RCV000426616 RCV000706855 RCV000984820 RCV001542226
NM_032638.5(GATA2):c.1018-1G>T	SNV Germline	Chr3:128481945	Pathogenic/Likely pathogenic	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections	Criteria Provided Multiple Submitters No Conflicts	CA358817	rs_869320668	3 SubmittersRCV000022568 RCV001542153 RCV003764625
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter)	SNV Germline	Chr3:128483868	Pathogenic	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome Condition: not provided Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML Monocytopenia with susceptibility to infections GATA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA128584	rs_387906632	6 SubmittersRCV000022571 RCV000812052 RCV000984812 RCV001542112 RCV003325944 RCV003891441
NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg)	SNV Germline	Chr3:128481845	Likely pathogenic	Deafness-lymphedema-leukemia syndrome Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA128589	rs_387906633	3 SubmittersRCV000022572 RCV001542161 RCV001543679
NM_032638.5(GATA2):c.1082G>T (p.Arg361Leu)	SNV Germline	Chr3:128481880	Pathogenic	Deafness-lymphedema-leukemia syndrome Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML	Criteria Provided Single Submitter	CA128593	rs_387906634	2 SubmittersRCV000022573 RCV001542238
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala)	SNV Germline	Chr3:128486117	Conflicting classifications of pathogenicity	not specified Condition: not provided Deafness-lymphedema-leukemia syndrome Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections GATA2-related disorder	Criteria Provided Conflicting Classifications	CA159894	rs_34799090	14 SubmittersRCV000121147 RCV000232396 RCV000389010 RCV001079258 RCV003891645
NM_032638.5(GATA2):c.787G>A (p.Gly263Arg)	SNV Germline	Chr3:128485811	Conflicting classifications of pathogenicity	not specified Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Acute myeloid leukemia GATA2-related disorder	Criteria Provided Conflicting Classifications	CA159909	rs_587778378	4 SubmittersRCV000121150 RCV000707549 RCV004567046 RCV003398727
NM_032638.5(GATA2):c.1054T>C (p.Cys352Arg)	SNV Germline	Chr3:128481908	Likely pathogenic	Leukemia, acute myeloid, susceptibility to Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML	Criteria Provided Multiple Submitters No Conflicts	CA208292	rs_797045591	2 SubmittersRCV000194241 RCV001542205
NM_032638.5(GATA2):c.857C>T (p.Ala286Val)	SNV Germline	Chr3:128485741	Conflicting classifications of pathogenicity	Leukemia, acute myeloid, susceptibility to Condition: not provided GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Conflicting Classifications	CA207231	rs_797045592	3 SubmittersRCV000193630 RCV000984851 RCV001542217
NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys)	SNV Germline	Chr3:128481849	Pathogenic/Likely pathogenic	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML	Criteria Provided Multiple Submitters No Conflicts	CA210024	rs_376003468	3 SubmittersRCV000197751 RCV001542124
NM_032638.5(GATA2):c.279G>A (p.Pro93=)	SNV Germline	Chr3:128486319	Conflicting classifications of pathogenicity	Condition: not provided Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections	Criteria Provided Conflicting Classifications	CA2600046	rs_142993548	3 SubmittersRCV000228480 RCV001079610
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala)	SNV Germline	Chr3:128486911	Conflicting classifications of pathogenicity	Condition: not provided not specified Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome Hereditary cancer-predisposing syndrome Monocytopenia with susceptibility to infections GATA2-related disorder	Criteria Provided Conflicting Classifications	CA2600100	rs_143590990	10 SubmittersRCV000227295 RCV000504452 RCV001084371 RCV001146587 RCV002257600 RCV003320354 RCV003891822
NM_032638.5(GATA2):c.1326C>T (p.His442=)	SNV Germline	Chr3:128481136	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections	Criteria Provided Conflicting Classifications	CA10614764	rs_886057929	2 SubmittersRCV000267304 RCV000549350
NM_032638.5(GATA2):c.204G>T (p.Ala68=)	SNV Germline	Chr3:128486828	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections	Criteria Provided Conflicting Classifications	CA10614774	rs_886057932	2 SubmittersRCV000292485 RCV000935383
NM_032638.5(GATA2):c.1347C>A (p.Ser449=)	SNV Germline	Chr3:128481115	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome Hereditary cancer-predisposing syndrome GATA2-related disorder	Criteria Provided Conflicting Classifications	CA2599794	rs_150052821	4 SubmittersRCV000466788 RCV001150745 RCV002258898 RCV003925310
NM_032638.5(GATA2):c.1035C>T (p.Ala345=)	SNV Germline	Chr3:128481927	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA2599875	rs_371599112	3 SubmittersRCV000457805 RCV000501563 RCV002256278
NM_032638.5(GATA2):c.669G>A (p.Met223Ile)	SNV Germline	Chr3:128485929	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Condition: not provided GATA2-related disorder Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA2599980	rs_140382420	4 SubmittersRCV000470368 RCV001785615 RCV003418151 RCV004567940
NM_032638.5(GATA2):c.1160C>A (p.Thr387Asn)	SNV Germline	Chr3:128481302	Conflicting classifications of pathogenicity	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Conflicting Classifications	CA16611169	rs_1060500092	2 SubmittersRCV000459207 RCV001542174
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr)	SNV Germline	Chr3:128481176	Conflicting classifications of pathogenicity	not specified Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome Acute myeloid leukemia Monocytopenia with susceptibility to infections Myelodysplastic syndrome Deafness-lymphedema-leukemia syndrome Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA2599808	rs_201155045	6 SubmittersRCV000502835 RCV000463544 RCV000765709 RCV001150746 RCV001541960 RCV003470392
NM_032638.5(GATA2):c.1416G>A (p.Pro472=)	SNV Germline	Chr3:128481046	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome not specified Hereditary cancer-predisposing syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA2599774	rs_376805544	6 SubmittersRCV000472901 RCV001150744 RCV001821310 RCV002256277 RCV003243141 RCV003221997
NM_032638.5(GATA2):c.1018-5C>T	SNV Germline	Chr3:128481949	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Condition: not provided	Criteria Provided Conflicting Classifications	CA2599883	rs_769196688	2 SubmittersRCV000474442 RCV003328587
NM_032638.5(GATA2):c.445G>A (p.Gly149Arg)	SNV Germline	Chr3:128486153	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Myelodysplastic syndrome Acute myeloid leukemia Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections not specified Condition: not provided GATA2-related disorder Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA2600028	rs_753645971	6 SubmittersRCV000458357 RCV000765712 RCV001821227 RCV003236800 RCV003972754 RCV004567941
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter)	SNV Germline	Chr3:128481878	Pathogenic/Likely pathogenic	Leukemia, acute myeloid, susceptibility to Deafness-lymphedema-leukemia syndrome Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML Condition: not provided Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome GATA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA354413573	rs_1553770510	8 SubmittersRCV000504503 RCV000987321 RCV001542118 RCV000984822 RCV001857100 RCV003892022
NM_032638.5(GATA2):c.1081C>G (p.Arg361Gly)	SNV Germline	Chr3:128481881	Likely pathogenic	Leukemia, acute myeloid, susceptibility to Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML	Criteria Provided Multiple Submitters No Conflicts	CA354413578	rs_1426175410	2 SubmittersRCV000500143 RCV001542236
NM_032638.5(GATA2):c.1017+485A>T	SNV Germline	Chr3:128483375	Conflicting classifications of pathogenicity	not specified Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections	Criteria Provided Conflicting Classifications	CA83377067	rs_745812924	2 SubmittersRCV000503021 RCV002524186
NM_032638.5(GATA2):c.1128C>T (p.Tyr376=)	SNV Germline	Chr3:128481834	Conflicting classifications of pathogenicity	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA2599865	rs_750890699	3 SubmittersRCV000529797 RCV001764593 RCV002256391
NM_032638.5(GATA2):c.1187G>A (p.Arg396Gln)	SNV Germline	Chr3:128481275	Pathogenic	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Condition: not provided Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML	Criteria Provided Multiple Submitters No Conflicts	CA354413234	rs_1553770434	3 SubmittersRCV000529588 RCV000984830 RCV001541953
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys)	SNV Germline	Chr3:128481881	Pathogenic/Likely pathogenic	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Condition: not provided GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome Acute myeloid leukemia Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Myelodysplastic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA354413577	rs_1426175410	6 SubmittersRCV000528994 RCV000984821 RCV001542237 RCV003224332
NM_032638.5(GATA2):c.208G>T (p.Val70Phe)	SNV Germline	Chr3:128486824	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Acute myeloid leukemia Acute myeloid leukemia Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Myelodysplastic syndrome	Criteria Provided Conflicting Classifications	CA2600083	rs_570531959	3 SubmittersRCV000555700 RCV003470766 RCV003224333
NM_032638.5(GATA2):c.1023C>T (p.Ala341=)	SNV Germline	Chr3:128481939	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome	Criteria Provided Conflicting Classifications	CA2599880	rs_376360090	2 SubmittersRCV000550919 RCV001144641
NM_032638.5(GATA2):c.1230G>T (p.Gly410=)	SNV Germline	Chr3:128481232	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Condition: not provided Deafness-lymphedema-leukemia syndrome not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA435525004	rs_1461907039	5 SubmittersRCV000649498 RCV000984832 RCV001150747 RCV001816620 RCV002256453
NM_032638.5(GATA2):c.706A>G (p.Met236Val)	SNV Germline	Chr3:128485892	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Monocytopenia with susceptibility to infections not specified Condition: not provided Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA2599973	rs_746737860	6 SubmittersRCV000649502 RCV000853226 RCV001816621 RCV003314633 RCV003465413
NM_032638.5(GATA2):c.888C>T (p.Val296=)	SNV Germline	Chr3:128483989	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA2599919	rs_574218913	3 SubmittersRCV000649510 RCV001816623 RCV002257906
NM_032638.5(GATA2):c.1020G>A (p.Ser340=)	SNV Germline	Chr3:128481942	Conflicting classifications of pathogenicity	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome not specified Acute myeloid leukemia Condition: not provided GATA2-related disorder	Criteria Provided Conflicting Classifications	CA2599881	rs_370166358	5 SubmittersRCV000649503 RCV001816622 RCV003465414 RCV003228971 RCV003945647
NM_032638.5(GATA2):c.1121G>A (p.Gly374Asp)	SNV Germline	Chr3:128481841	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Condition: not provided	Criteria Provided Conflicting Classifications		rs_1559985057	2 SubmittersRCV000696775 RCV001508504
NM_032638.5(GATA2):c.1017+572C>T	SNV Germline	Chr3:128483288	Pathogenic/Likely pathogenic	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome Condition: not provided GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1559985787	7 SubmittersRCV000686407 RCV000984814 RCV001542146
NM_032638.5(GATA2):c.654G>A (p.Thr218=)	SNV Germline	Chr3:128485944	Conflicting classifications of pathogenicity	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_34632959	2 SubmittersRCV000707579 RCV002257950
NM_032638.5(GATA2):c.1085G>A (p.Arg362Gln)	SNV Germline	Chr3:128481877	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Condition: not provided Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections	Criteria Provided Conflicting Classifications		rs_867160952	3 SubmittersRCV000761281 RCV001508505 RCV002533864
NM_032638.5(GATA2):c.988C>T (p.Arg330Ter)	SNV Germline	Chr3:128483889	Pathogenic	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1576746847	2 SubmittersRCV000793168 RCV001542110
NM_032638.5(GATA2):c.852C>T (p.Ser284=)	SNV Germline	Chr3:128485746	Conflicting classifications of pathogenicity	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_1282036381	3 SubmittersRCV000819346 RCV003489910 RCV003442113
NM_032638.5(GATA2):c.358C>T (p.Pro120Ser)	SNV Germline	Chr3:128486240	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_144794596	3 SubmittersRCV000802400 RCV001816864 RCV002256521
NM_032638.5(GATA2):c.49C>T (p.Leu17=)	SNV Germline	Chr3:128486983	Conflicting classifications of pathogenicity	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome not specified	Criteria Provided Conflicting Classifications		rs_752025757	2 SubmittersRCV000861840 RCV001816931
NM_032638.5(GATA2):c.1143+8C>T	SNV Germline	Chr3:128481811	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_555534597	3 SubmittersRCV000869238 RCV001541977 RCV002256569
NM_032638.5(GATA2):c.1017+525C>T	SNV Germline	Chr3:128483335	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections not specified	Criteria Provided Conflicting Classifications		rs_916833024	2 SubmittersRCV000870029 RCV001816990
NM_032638.5(GATA2):c.315C>G (p.Leu105=)	SNV Germline	Chr3:128486283	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome	Criteria Provided Conflicting Classifications		rs_750545562	2 SubmittersRCV001146586 RCV001406971
NM_032638.5(GATA2):c.1339A>C (p.Ser447Arg)	SNV Germline	Chr3:128481123	Conflicting classifications of pathogenicity	Condition: not provided Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML	Criteria Provided Conflicting Classifications		rs_1576744275	2 SubmittersRCV000984834 RCV001541962
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp)	SNV Germline	Chr3:128481276	Pathogenic/Likely pathogenic	Condition: not provided Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML	Criteria Provided Multiple Submitters No Conflicts		rs_1576744529	5 SubmittersRCV000984829 RCV002549629 RCV001541952
NM_032638.5(GATA2):c.1052A>G (p.Asn351Ser)	SNV Germline	Chr3:128481910	Conflicting classifications of pathogenicity	Condition: not provided Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML	Criteria Provided Conflicting Classifications		rs_1576745252	2 SubmittersRCV000984819 RCV001542204
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter)	SNV Germline	Chr3:128481935	Pathogenic/Likely pathogenic	Condition: not provided Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections	Criteria Provided Multiple Submitters No Conflicts		rs_1313081073	2 SubmittersRCV000984817 RCV001062521
NM_032638.5(GATA2):c.802G>T (p.Gly268Ter)	SNV Germline	Chr3:128485796	Pathogenic/Likely pathogenic	Condition: not provided Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML	Criteria Provided Multiple Submitters No Conflicts		rs_764747992	2 SubmittersRCV000984849 RCV001542214
NM_032638.5(GATA2):c.610C>T (p.Arg204Ter)	SNV Germline	Chr3:128485988	Pathogenic	Condition: not provided Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML	Criteria Provided Multiple Submitters No Conflicts		rs_1576748638	2 SubmittersRCV000984843 RCV001542190
NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr)	SNV Unknown	Chr3:128481916	Likely pathogenic	Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_1576745256	1 SubmittersRCV000987322
NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg)	SNV Germline	Chr3:128481917	Pathogenic/Likely pathogenic	Deafness-lymphedema-leukemia syndrome Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML	Criteria Provided Multiple Submitters No Conflicts		rs_1576745260	2 SubmittersRCV000987323 RCV001542202
NM_032638.5(GATA2):c.1289C>T (p.Ala430Val)	SNV Germline	Chr3:128481173	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Condition: not provided	Criteria Provided Conflicting Classifications		rs_2068623044	2 SubmittersRCV001046047 RCV002254329
NM_032638.5(GATA2):c.1114G>A (p.Ala372Thr)	SNV Germline	Chr3:128481848	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Conflicting Classifications		rs_936826425	2 SubmittersRCV001049958 RCV001542127
NM_032638.5(GATA2):c.216C>G (p.Tyr72Ter)	SNV Germline	Chr3:128486816	Pathogenic	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections	Criteria Provided Single Submitter		rs_1254938356	1 SubmittersRCV001059063
NM_032638.5(GATA2):c.872-1G>C	SNV Germline	Chr3:128484006	Likely pathogenic	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections	Criteria Provided Single Submitter		rs_2068663163	1 SubmittersRCV001036959
NM_032638.5(GATA2):c.999C>T (p.Ile333=)	SNV Germline	Chr3:128483878	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome	Criteria Provided Conflicting Classifications		rs_886072363	2 SubmittersRCV001144642 RCV001505331
NM_032638.5(GATA2):c.1193G>A (p.Arg398Gln)	SNV Germline	Chr3:128481269	Pathogenic/Likely pathogenic	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1420609104	2 SubmittersRCV001207183 RCV001541955
NM_032638.5(GATA2):c.937C>T (p.His313Tyr)	SNV Germline	Chr3:128483940	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML	Criteria Provided Conflicting Classifications		rs_2068661887	2 SubmittersRCV001301867 RCV001542223
NM_032638.5(GATA2):c.177C>G (p.Tyr59Ter)	SNV Germline	Chr3:128486855	Pathogenic	Condition: not provided GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_146150325	2 SubmittersRCV001311611 RCV001542132
NM_032638.5(GATA2):c.1069A>G (p.Thr357Ala)	SNV Germline	Chr3:128481893	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML	Criteria Provided Conflicting Classifications		rs_2107668704	2 SubmittersRCV001364569 RCV001542231
NM_032638.5(GATA2):c.1170G>A (p.Lys390=)	SNV Germline	Chr3:128481292	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_765884493	2 SubmittersRCV001403269 RCV002255659
NM_032638.5(GATA2):c.981G>A (p.Gly327=)	SNV Germline	Chr3:128483896	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML	Criteria Provided Conflicting Classifications		rs_2068661291	2 SubmittersRCV001394459 RCV001541970
NM_032638.5(GATA2):c.1017+512C>T	SNV Germline	Chr3:128483348	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections not specified	Criteria Provided Conflicting Classifications		rs_890419135	2 SubmittersRCV001423284 RCV001820117
NM_032638.5(GATA2):c.495C>T (p.His165=)	SNV Germline	Chr3:128486103	Conflicting classifications of pathogenicity	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_887833751	2 SubmittersRCV001438929 RCV003319473
NM_032638.5(GATA2):c.942C>T (p.Tyr314=)	SNV Germline	Chr3:128483935	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections not specified	Criteria Provided Conflicting Classifications		rs_2107670420	2 SubmittersRCV001492803 RCV001820194
NM_032638.5(GATA2):c.1341C>A (p.Ser447Arg)	SNV Unknown	Chr3:128481121	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_1338194519	1 SubmittersRCV001541963
NM_032638.5(GATA2):c.1187G>T (p.Arg396Leu)	SNV Germline	Chr3:128481275	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1553770434	2 SubmittersRCV001541954 RCV003225189
NM_032638.5(GATA2):c.1168A>G (p.Lys390Glu)	SNV Unknown	Chr3:128481294	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107668094	1 SubmittersRCV001541950
NM_032638.5(GATA2):c.1163T>C (p.Met388Thr)	SNV Germline	Chr3:128481299	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107668103	1 SubmittersRCV001541949
NM_032638.5(GATA2):c.1123C>G (p.Leu375Val)	SNV Unknown	Chr3:128481839	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107668602	1 SubmittersRCV001541948
NM_032638.5(GATA2):c.1073C>A (p.Thr358Asn)	SNV Germline	Chr3:128481889	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_148942346	1 SubmittersRCV001541947
NM_032638.5(GATA2):c.1017+582G>T	SNV Germline	Chr3:128483278	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome	Criteria Provided Conflicting Classifications		rs_1296477757	2 SubmittersRCV001541972 RCV002071961
NM_032638.5(GATA2):c.1162A>G (p.Met388Val)	SNV Germline	Chr3:128481300	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome	Criteria Provided Conflicting Classifications		rs_2107668104	2 SubmittersRCV001542175 RCV003771663
NM_032638.5(GATA2):c.1154C>A (p.Pro385Gln)	SNV Germline	Chr3:128481308	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107668121	1 SubmittersRCV001542172
NM_032638.5(GATA2):c.1143+5G>C	SNV Unknown	Chr3:128481814	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107668551	1 SubmittersRCV001542171
NM_032638.5(GATA2):c.1143+5G>A	SNV Germline	Chr3:128481814	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107668551	1 SubmittersRCV001542170
NM_032638.5(GATA2):c.1143+2T>A	SNV Germline	Chr3:128481817	Pathogenic/Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_2107668560	2 SubmittersRCV001542169 RCV004039253
NM_032638.5(GATA2):c.1132A>T (p.Lys378Ter)	SNV Unknown	Chr3:128481830	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107668584	1 SubmittersRCV001542166
NM_032638.5(GATA2):c.1129T>G (p.Tyr377Asp)	SNV Germline	Chr3:128481833	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2107668593	2 SubmittersRCV001542165 RCV001821863
NM_032638.5(GATA2):c.1128C>G (p.Tyr376Ter)	SNV Germline	Chr3:128481834	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_750890699	1 SubmittersRCV001542164
NM_032638.5(GATA2):c.1123C>T (p.Leu375Phe)	SNV Germline	Chr3:128481839	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107668602	1 SubmittersRCV001542162
NM_032638.5(GATA2):c.1118G>A (p.Cys373Tyr)	SNV Unknown	Chr3:128481844	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107668617	1 SubmittersRCV001542129
NM_032638.5(GATA2):c.1113C>G (p.Asn371Lys)	SNV Germline	Chr3:128481849	Pathogenic/Likely pathogenic	Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_376003468	2 SubmittersRCV001542125 RCV001859359
NM_032638.5(GATA2):c.1110C>G (p.Cys370Trp)	SNV Unknown	Chr3:128481852	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107668638	1 SubmittersRCV001542123
NM_032638.5(GATA2):c.1085G>C (p.Arg362Pro)	SNV Germline	Chr3:128481877	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_867160952	1 SubmittersRCV001542119
NM_032638.5(GATA2):c.1082G>A (p.Arg361His)	SNV Germline	Chr3:128481880	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_387906634	1 SubmittersRCV001542116
NM_032638.5(GATA2):c.1079G>T (p.Trp360Leu)	SNV Germline	Chr3:128481883	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107668679	1 SubmittersRCV001542235
NM_032638.5(GATA2):c.1078T>A (p.Trp360Arg)	SNV Germline	Chr3:128481884	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107668680	1 SubmittersRCV001542234
NM_032638.5(GATA2):c.1076T>C (p.Leu359Ser)	SNV Germline	Chr3:128481886	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107668687	1 SubmittersRCV001542233
NM_032638.5(GATA2):c.1070C>T (p.Thr357Ile)	SNV Germline	Chr3:128481892	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections	Criteria Provided Conflicting Classifications		rs_2107668699	2 SubmittersRCV001542232 RCV002568258
NM_032638.5(GATA2):c.1061C>G (p.Thr354Arg)	SNV Germline	Chr3:128481901	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_387906631	1 SubmittersRCV001542227
NM_032638.5(GATA2):c.1060A>C (p.Thr354Pro)	SNV Germline	Chr3:128481902	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107668727	1 SubmittersRCV001542225
NM_032638.5(GATA2):c.1055G>T (p.Cys352Phe)	SNV Unknown	Chr3:128481907	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107668733	1 SubmittersRCV001542224
NM_032638.5(GATA2):c.1054T>G (p.Cys352Gly)	SNV Unknown	Chr3:128481908	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_797045591	1 SubmittersRCV001542206
NM_032638.5(GATA2):c.1046G>T (p.Cys349Phe)	SNV Germline	Chr3:128481916	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_1576745256	1 SubmittersRCV001542201
NM_032638.5(GATA2):c.1045T>G (p.Cys349Gly)	SNV Unknown	Chr3:128481917	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_1576745260	1 SubmittersRCV001542203
NM_032638.5(GATA2):c.1018-1G>A	SNV Unknown	Chr3:128481945	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_869320668	1 SubmittersRCV001542152
NM_032638.5(GATA2):c.1018-2A>T	SNV Unknown	Chr3:128481946	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_1576745322	1 SubmittersRCV001542151
NM_032638.5(GATA2):c.1018-2A>G	SNV Germline	Chr3:128481946	Pathogenic	Deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections	Criteria Provided Multiple Submitters No Conflicts		rs_1576745322	2 SubmittersRCV001542150 RCV002570650
NM_032638.5(GATA2):c.1017+2T>G	SNV Unknown	Chr3:128483858	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_1576746830	1 SubmittersRCV001542114
NM_032638.5(GATA2):c.1017+2T>C	SNV Germline	Chr3:128483858	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_1576746830	1 SubmittersRCV001542115
NM_032638.5(GATA2):c.982C>T (p.Gln328Ter)	SNV Unknown	Chr3:128483895	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107670346	1 SubmittersRCV001542108
NM_032638.5(GATA2):c.952G>A (p.Ala318Thr)	SNV Germline	Chr3:128483925	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107670401	1 SubmittersRCV001542105
NM_032638.5(GATA2):c.944T>C (p.Leu315Pro)	SNV Unknown	Chr3:128483933	Likely pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107670416	1 SubmittersRCV001542103
NM_032638.5(GATA2):c.917G>A (p.Trp306Ter)	SNV Unknown	Chr3:128483960	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107670463	1 SubmittersRCV001542221
NM_032638.5(GATA2):c.869C>A (p.Ser290Ter)	SNV Unknown	Chr3:128485729	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2068685370	1 SubmittersRCV001542218
NM_032638.5(GATA2):c.670G>T (p.Glu224Ter)	SNV Unknown	Chr3:128485928	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107672186	1 SubmittersRCV001542208
NM_032638.5(GATA2):c.538G>T (p.Glu180Ter)	SNV Unknown	Chr3:128486060	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107672419	1 SubmittersRCV001542183
NM_032638.5(GATA2):c.423C>A (p.Tyr141Ter)	SNV Germline	Chr3:128486175	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_781744898	1 SubmittersRCV001542181
NM_032638.5(GATA2):c.351C>G (p.Thr117=)	SNV Germline	Chr3:128486247	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107672788	1 SubmittersRCV001542145
NM_032638.5(GATA2):c.161C>A (p.Ser54Ter)	SNV Unknown	Chr3:128486871	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107673501	1 SubmittersRCV001542131
NM_032638.5(GATA2):c.130G>T (p.Glu44Ter)	SNV Germline	Chr3:128486902	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107673544	1 SubmittersRCV001542130
NM_032638.5(GATA2):c.58C>T (p.Gln20Ter)	SNV Germline	Chr3:128486974	Pathogenic	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter		rs_2107673689	1 SubmittersRCV001542101
NM_032638.5(GATA2):c.1143+11C>T	SNV Germline	Chr3:128481808	Conflicting classifications of pathogenicity	not specified Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections	Criteria Provided Conflicting Classifications		rs_367569053	2 SubmittersRCV001820537 RCV002074340
NM_032638.5(GATA2):c.1019C>A (p.Ser340Ter)	SNV Germline	Chr3:128481943	Pathogenic	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections	Criteria Provided Single Submitter		rs_745439347	1 SubmittersRCV001888226
NM_032638.5(GATA2):c.633C>G (p.Val211=)	SNV Germline	Chr3:128485965	Conflicting classifications of pathogenicity	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections Condition: not provided	Criteria Provided Conflicting Classifications		rs_375773132	2 SubmittersRCV002112053 RCV003154061
NM_032638.5(GATA2):c.1180C>T (p.Gln394Ter)	SNV Germline	Chr3:128481282	Pathogenic	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections	Criteria Provided Single Submitter			1 SubmittersRCV002856671
NM_032638.5(GATA2):c.99C>A (p.Tyr33Ter)	SNV Germline	Chr3:128486933	Pathogenic	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections	Criteria Provided Single Submitter			1 SubmittersRCV002834496
NM_032638.5(GATA2):c.423C>G (p.Tyr141Ter)	SNV Germline	Chr3:128486175	Pathogenic	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections	Criteria Provided Single Submitter			1 SubmittersRCV002857223
NM_032638.5(GATA2):c.1192C>G (p.Arg398Gly)	SNV Germline	Chr3:128481270	Likely pathogenic	Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections	Criteria Provided Single Submitter			1 SubmittersRCV003043338
NM_032638.5(GATA2):c.871+1G>A	SNV Germline	Chr3:128485726	Likely pathogenic	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003801539

NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp)

SNV
Germline/somatic

Chr3:128481270

Pathogenic

Leukemia, acute myeloid, susceptibility to
Monocytopenia with susceptibility to infections
Condition: not provided
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
Acute myeloid leukemia
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA128572

rs_387906629

9 SubmittersRCV000502442 RCV000022559 RCV000984831 RCV001384284 RCV000445214 RCV001541956 RCV004018663

NM_032638.5(GATA2):c.1061C>T (p.Thr354Met)

SNV
Germline/somatic

Chr3:128481901

Pathogenic

Monocytopenia with susceptibility to infections
Leukemia, acute myeloid, susceptibility to
Myelodysplastic syndrome
Acute myeloid leukemia
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Condition: not provided
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML

Criteria Provided
Multiple Submitters
No Conflicts

CA128580

rs_387906631

6 SubmittersRCV000022561 RCV000022563 RCV000022562 RCV000426616 RCV000706855 RCV000984820 RCV001542226

NM_032638.5(GATA2):c.1018-1G>T

SNV
Germline

Chr3:128481945

Pathogenic/Likely pathogenic

Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections

Criteria Provided
Multiple Submitters
No Conflicts

CA358817

rs_869320668

3 SubmittersRCV000022568 RCV001542153 RCV003764625

NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter)

SNV
Germline

Chr3:128483868

Pathogenic

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
Condition: not provided
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML
Monocytopenia with susceptibility to infections
GATA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA128584

rs_387906632

6 SubmittersRCV000022571 RCV000812052 RCV000984812 RCV001542112 RCV003325944 RCV003891441

NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg)

SNV
Germline

Chr3:128481845

Likely pathogenic

Deafness-lymphedema-leukemia syndrome
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA128589

rs_387906633

3 SubmittersRCV000022572 RCV001542161 RCV001543679

NM_032638.5(GATA2):c.1082G>T (p.Arg361Leu)

SNV
Germline

Chr3:128481880

Pathogenic

Deafness-lymphedema-leukemia syndrome
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML

Criteria Provided
Single Submitter

CA128593

rs_387906634

2 SubmittersRCV000022573 RCV001542238

NM_032638.5(GATA2):c.481C>G (p.Pro161Ala)

SNV
Germline

Chr3:128486117

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Deafness-lymphedema-leukemia syndrome
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
GATA2-related disorder

Criteria Provided
Conflicting Classifications

CA159894

rs_34799090

14 SubmittersRCV000121147 RCV000232396 RCV000389010 RCV001079258 RCV003891645

NM_032638.5(GATA2):c.787G>A (p.Gly263Arg)

SNV
Germline

Chr3:128485811

Conflicting classifications of pathogenicity

not specified
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Acute myeloid leukemia
GATA2-related disorder

Criteria Provided
Conflicting Classifications

CA159909

rs_587778378

4 SubmittersRCV000121150 RCV000707549 RCV004567046 RCV003398727

NM_032638.5(GATA2):c.1054T>C (p.Cys352Arg)

SNV
Germline

Chr3:128481908

Likely pathogenic

Leukemia, acute myeloid, susceptibility to
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML

Criteria Provided
Multiple Submitters
No Conflicts

CA208292

rs_797045591

2 SubmittersRCV000194241 RCV001542205

NM_032638.5(GATA2):c.857C>T (p.Ala286Val)

SNV
Germline

Chr3:128485741

Conflicting classifications of pathogenicity

Leukemia, acute myeloid, susceptibility to
Condition: not provided
GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Conflicting Classifications

CA207231

rs_797045592

3 SubmittersRCV000193630 RCV000984851 RCV001542217

NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys)

SNV
Germline

Chr3:128481849

Pathogenic/Likely pathogenic

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML

Criteria Provided
Multiple Submitters
No Conflicts

CA210024

rs_376003468

3 SubmittersRCV000197751 RCV001542124

NM_032638.5(GATA2):c.279G>A (p.Pro93=)

SNV
Germline

Chr3:128486319

Conflicting classifications of pathogenicity

Condition: not provided
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections

Criteria Provided
Conflicting Classifications

CA2600046

rs_142993548

3 SubmittersRCV000228480 RCV001079610

NM_032638.5(GATA2):c.121C>G (p.Pro41Ala)

SNV
Germline

Chr3:128486911

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
Hereditary cancer-predisposing syndrome
Monocytopenia with susceptibility to infections
GATA2-related disorder

Criteria Provided
Conflicting Classifications

CA2600100

rs_143590990

10 SubmittersRCV000227295 RCV000504452 RCV001084371 RCV001146587 RCV002257600 RCV003320354 RCV003891822

NM_032638.5(GATA2):c.1326C>T (p.His442=)

SNV
Germline

Chr3:128481136

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections

Criteria Provided
Conflicting Classifications

CA10614764

rs_886057929

2 SubmittersRCV000267304 RCV000549350

NM_032638.5(GATA2):c.204G>T (p.Ala68=)

SNV
Germline

Chr3:128486828

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections

Criteria Provided
Conflicting Classifications

CA10614774

rs_886057932

2 SubmittersRCV000292485 RCV000935383

NM_032638.5(GATA2):c.1347C>A (p.Ser449=)

SNV
Germline

Chr3:128481115

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
Hereditary cancer-predisposing syndrome
GATA2-related disorder

Criteria Provided
Conflicting Classifications

CA2599794

rs_150052821

4 SubmittersRCV000466788 RCV001150745 RCV002258898 RCV003925310

NM_032638.5(GATA2):c.1035C>T (p.Ala345=)

SNV
Germline

Chr3:128481927

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2599875

rs_371599112

3 SubmittersRCV000457805 RCV000501563 RCV002256278

NM_032638.5(GATA2):c.669G>A (p.Met223Ile)

SNV
Germline

Chr3:128485929

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Condition: not provided
GATA2-related disorder
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA2599980

rs_140382420

4 SubmittersRCV000470368 RCV001785615 RCV003418151 RCV004567940

NM_032638.5(GATA2):c.1160C>A (p.Thr387Asn)

SNV
Germline

Chr3:128481302

Conflicting classifications of pathogenicity

Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Conflicting Classifications

CA16611169

rs_1060500092

2 SubmittersRCV000459207 RCV001542174

NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr)

SNV
Germline

Chr3:128481176

Conflicting classifications of pathogenicity

not specified
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
Acute myeloid leukemia
Monocytopenia with susceptibility to infections
Myelodysplastic syndrome
Deafness-lymphedema-leukemia syndrome
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA2599808

rs_201155045

6 SubmittersRCV000502835 RCV000463544 RCV000765709 RCV001150746 RCV001541960 RCV003470392

NM_032638.5(GATA2):c.1416G>A (p.Pro472=)

SNV
Germline

Chr3:128481046

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
not specified
Hereditary cancer-predisposing syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2599774

rs_376805544

6 SubmittersRCV000472901 RCV001150744 RCV001821310 RCV002256277 RCV003243141 RCV003221997

NM_032638.5(GATA2):c.1018-5C>T

SNV
Germline

Chr3:128481949

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2599883

rs_769196688

2 SubmittersRCV000474442 RCV003328587

NM_032638.5(GATA2):c.445G>A (p.Gly149Arg)

SNV
Germline

Chr3:128486153

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Myelodysplastic syndrome
Acute myeloid leukemia
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
not specified
Condition: not provided
GATA2-related disorder
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA2600028

rs_753645971

6 SubmittersRCV000458357 RCV000765712 RCV001821227 RCV003236800 RCV003972754 RCV004567941

NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter)

SNV
Germline

Chr3:128481878

Pathogenic/Likely pathogenic

Leukemia, acute myeloid, susceptibility to
Deafness-lymphedema-leukemia syndrome
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML
Condition: not provided
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
GATA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA354413573

rs_1553770510

8 SubmittersRCV000504503 RCV000987321 RCV001542118 RCV000984822 RCV001857100 RCV003892022

NM_032638.5(GATA2):c.1081C>G (p.Arg361Gly)

SNV
Germline

Chr3:128481881

Likely pathogenic

Leukemia, acute myeloid, susceptibility to
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML

Criteria Provided
Multiple Submitters
No Conflicts

CA354413578

rs_1426175410

2 SubmittersRCV000500143 RCV001542236

NM_032638.5(GATA2):c.1017+485A>T

SNV
Germline

Chr3:128483375

Conflicting classifications of pathogenicity

not specified
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections

Criteria Provided
Conflicting Classifications

CA83377067

rs_745812924

2 SubmittersRCV000503021 RCV002524186

NM_032638.5(GATA2):c.1128C>T (p.Tyr376=)

SNV
Germline

Chr3:128481834

Conflicting classifications of pathogenicity

Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2599865

rs_750890699

3 SubmittersRCV000529797 RCV001764593 RCV002256391

NM_032638.5(GATA2):c.1187G>A (p.Arg396Gln)

SNV
Germline

Chr3:128481275

Pathogenic

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Condition: not provided
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML

Criteria Provided
Multiple Submitters
No Conflicts

CA354413234

rs_1553770434

3 SubmittersRCV000529588 RCV000984830 RCV001541953

NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys)

SNV
Germline

Chr3:128481881

Pathogenic/Likely pathogenic

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Condition: not provided
GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome
Acute myeloid leukemia
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Myelodysplastic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA354413577

rs_1426175410

6 SubmittersRCV000528994 RCV000984821 RCV001542237 RCV003224332

NM_032638.5(GATA2):c.208G>T (p.Val70Phe)

SNV
Germline

Chr3:128486824

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Acute myeloid leukemia
Acute myeloid leukemia
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Myelodysplastic syndrome

Criteria Provided
Conflicting Classifications

CA2600083

rs_570531959

3 SubmittersRCV000555700 RCV003470766 RCV003224333

NM_032638.5(GATA2):c.1023C>T (p.Ala341=)

SNV
Germline

Chr3:128481939

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Conflicting Classifications

CA2599880

rs_376360090

2 SubmittersRCV000550919 RCV001144641

NM_032638.5(GATA2):c.1230G>T (p.Gly410=)

SNV
Germline

Chr3:128481232

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Condition: not provided
Deafness-lymphedema-leukemia syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA435525004

rs_1461907039

5 SubmittersRCV000649498 RCV000984832 RCV001150747 RCV001816620 RCV002256453

NM_032638.5(GATA2):c.706A>G (p.Met236Val)

SNV
Germline

Chr3:128485892

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Monocytopenia with susceptibility to infections
not specified
Condition: not provided
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA2599973

rs_746737860

6 SubmittersRCV000649502 RCV000853226 RCV001816621 RCV003314633 RCV003465413

NM_032638.5(GATA2):c.888C>T (p.Val296=)

SNV
Germline

Chr3:128483989

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2599919

rs_574218913

3 SubmittersRCV000649510 RCV001816623 RCV002257906

NM_032638.5(GATA2):c.1020G>A (p.Ser340=)

SNV
Germline

Chr3:128481942

Conflicting classifications of pathogenicity

Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
not specified
Acute myeloid leukemia
Condition: not provided
GATA2-related disorder

Criteria Provided
Conflicting Classifications

CA2599881

rs_370166358

5 SubmittersRCV000649503 RCV001816622 RCV003465414 RCV003228971 RCV003945647

NM_032638.5(GATA2):c.1121G>A (p.Gly374Asp)

SNV
Germline

Chr3:128481841

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1559985057

2 SubmittersRCV000696775 RCV001508504

NM_032638.5(GATA2):c.1017+572C>T

SNV
Germline

Chr3:128483288

Pathogenic/Likely pathogenic

Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
Condition: not provided
GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559985787

7 SubmittersRCV000686407 RCV000984814 RCV001542146

NM_032638.5(GATA2):c.654G>A (p.Thr218=)

SNV
Germline

Chr3:128485944

Conflicting classifications of pathogenicity

Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_34632959

2 SubmittersRCV000707579 RCV002257950

NM_032638.5(GATA2):c.1085G>A (p.Arg362Gln)

SNV
Germline

Chr3:128481877

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Condition: not provided
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections

Criteria Provided
Conflicting Classifications

rs_867160952

3 SubmittersRCV000761281 RCV001508505 RCV002533864

NM_032638.5(GATA2):c.988C>T (p.Arg330Ter)

SNV
Germline

Chr3:128483889

Pathogenic

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1576746847

2 SubmittersRCV000793168 RCV001542110

NM_032638.5(GATA2):c.852C>T (p.Ser284=)

SNV
Germline

Chr3:128485746

Conflicting classifications of pathogenicity

Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1282036381

3 SubmittersRCV000819346 RCV003489910 RCV003442113

NM_032638.5(GATA2):c.358C>T (p.Pro120Ser)

SNV
Germline

Chr3:128486240

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_144794596

3 SubmittersRCV000802400 RCV001816864 RCV002256521

NM_032638.5(GATA2):c.49C>T (p.Leu17=)

SNV
Germline

Chr3:128486983

Conflicting classifications of pathogenicity

Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_752025757

2 SubmittersRCV000861840 RCV001816931

NM_032638.5(GATA2):c.1143+8C>T

SNV
Germline

Chr3:128481811

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_555534597

3 SubmittersRCV000869238 RCV001541977 RCV002256569

NM_032638.5(GATA2):c.1017+525C>T

SNV
Germline

Chr3:128483335

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
not specified

Criteria Provided
Conflicting Classifications

rs_916833024

2 SubmittersRCV000870029 RCV001816990

NM_032638.5(GATA2):c.315C>G (p.Leu105=)

SNV
Germline

Chr3:128486283

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Conflicting Classifications

rs_750545562

2 SubmittersRCV001146586 RCV001406971

NM_032638.5(GATA2):c.1339A>C (p.Ser447Arg)

SNV
Germline

Chr3:128481123

Conflicting classifications of pathogenicity

Condition: not provided
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML

Criteria Provided
Conflicting Classifications

rs_1576744275

2 SubmittersRCV000984834 RCV001541962

NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp)

SNV
Germline

Chr3:128481276

Pathogenic/Likely pathogenic

Condition: not provided
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML

Criteria Provided
Multiple Submitters
No Conflicts

rs_1576744529

5 SubmittersRCV000984829 RCV002549629 RCV001541952

NM_032638.5(GATA2):c.1052A>G (p.Asn351Ser)

SNV
Germline

Chr3:128481910

Conflicting classifications of pathogenicity

Condition: not provided
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML

Criteria Provided
Conflicting Classifications

rs_1576745252

2 SubmittersRCV000984819 RCV001542204

NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter)

SNV
Germline

Chr3:128481935

Pathogenic/Likely pathogenic

Condition: not provided
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections

Criteria Provided
Multiple Submitters
No Conflicts

rs_1313081073

2 SubmittersRCV000984817 RCV001062521

NM_032638.5(GATA2):c.802G>T (p.Gly268Ter)

SNV
Germline

Chr3:128485796

Pathogenic/Likely pathogenic

Condition: not provided
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML

Criteria Provided
Multiple Submitters
No Conflicts

rs_764747992

2 SubmittersRCV000984849 RCV001542214

NM_032638.5(GATA2):c.610C>T (p.Arg204Ter)

SNV
Germline

Chr3:128485988

Pathogenic

Condition: not provided
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML

Criteria Provided
Multiple Submitters
No Conflicts

rs_1576748638

2 SubmittersRCV000984843 RCV001542190

NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr)

SNV
Unknown

Chr3:128481916

Likely pathogenic

Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_1576745256

1 SubmittersRCV000987322

NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg)

SNV
Germline

Chr3:128481917

Pathogenic/Likely pathogenic

Deafness-lymphedema-leukemia syndrome
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML

Criteria Provided
Multiple Submitters
No Conflicts

rs_1576745260

2 SubmittersRCV000987323 RCV001542202

NM_032638.5(GATA2):c.1289C>T (p.Ala430Val)

SNV
Germline

Chr3:128481173

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2068623044

2 SubmittersRCV001046047 RCV002254329

NM_032638.5(GATA2):c.1114G>A (p.Ala372Thr)

SNV
Germline

Chr3:128481848

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Conflicting Classifications

rs_936826425

2 SubmittersRCV001049958 RCV001542127

NM_032638.5(GATA2):c.216C>G (p.Tyr72Ter)

SNV
Germline

Chr3:128486816

Pathogenic

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections

Criteria Provided
Single Submitter

rs_1254938356

1 SubmittersRCV001059063

NM_032638.5(GATA2):c.872-1G>C

SNV
Germline

Chr3:128484006

Likely pathogenic

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections

Criteria Provided
Single Submitter

rs_2068663163

1 SubmittersRCV001036959

NM_032638.5(GATA2):c.999C>T (p.Ile333=)

SNV
Germline

Chr3:128483878

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Conflicting Classifications

rs_886072363

2 SubmittersRCV001144642 RCV001505331

NM_032638.5(GATA2):c.1193G>A (p.Arg398Gln)

SNV
Germline

Chr3:128481269

Pathogenic/Likely pathogenic

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1420609104

2 SubmittersRCV001207183 RCV001541955

NM_032638.5(GATA2):c.937C>T (p.His313Tyr)

SNV
Germline

Chr3:128483940

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML

Criteria Provided
Conflicting Classifications

rs_2068661887

2 SubmittersRCV001301867 RCV001542223

NM_032638.5(GATA2):c.177C>G (p.Tyr59Ter)

SNV
Germline

Chr3:128486855

Pathogenic

Condition: not provided
GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_146150325

2 SubmittersRCV001311611 RCV001542132

NM_032638.5(GATA2):c.1069A>G (p.Thr357Ala)

SNV
Germline

Chr3:128481893

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML

Criteria Provided
Conflicting Classifications

rs_2107668704

2 SubmittersRCV001364569 RCV001542231

NM_032638.5(GATA2):c.1170G>A (p.Lys390=)

SNV
Germline

Chr3:128481292

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_765884493

2 SubmittersRCV001403269 RCV002255659

NM_032638.5(GATA2):c.981G>A (p.Gly327=)

SNV
Germline

Chr3:128483896

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML

Criteria Provided
Conflicting Classifications

rs_2068661291

2 SubmittersRCV001394459 RCV001541970

NM_032638.5(GATA2):c.1017+512C>T

SNV
Germline

Chr3:128483348

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
not specified

Criteria Provided
Conflicting Classifications

rs_890419135

2 SubmittersRCV001423284 RCV001820117

NM_032638.5(GATA2):c.495C>T (p.His165=)

SNV
Germline

Chr3:128486103

Conflicting classifications of pathogenicity

Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_887833751

2 SubmittersRCV001438929 RCV003319473

NM_032638.5(GATA2):c.942C>T (p.Tyr314=)

SNV
Germline

Chr3:128483935

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
not specified

Criteria Provided
Conflicting Classifications

rs_2107670420

2 SubmittersRCV001492803 RCV001820194

NM_032638.5(GATA2):c.1341C>A (p.Ser447Arg)

SNV
Unknown

Chr3:128481121

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_1338194519

1 SubmittersRCV001541963

NM_032638.5(GATA2):c.1187G>T (p.Arg396Leu)

SNV
Germline

Chr3:128481275

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553770434

2 SubmittersRCV001541954 RCV003225189

NM_032638.5(GATA2):c.1168A>G (p.Lys390Glu)

SNV
Unknown

Chr3:128481294

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107668094

1 SubmittersRCV001541950

NM_032638.5(GATA2):c.1163T>C (p.Met388Thr)

SNV
Germline

Chr3:128481299

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107668103

1 SubmittersRCV001541949

NM_032638.5(GATA2):c.1123C>G (p.Leu375Val)

SNV
Unknown

Chr3:128481839

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107668602

1 SubmittersRCV001541948

NM_032638.5(GATA2):c.1073C>A (p.Thr358Asn)

SNV
Germline

Chr3:128481889

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_148942346

1 SubmittersRCV001541947

NM_032638.5(GATA2):c.1017+582G>T

SNV
Germline

Chr3:128483278

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Conflicting Classifications

rs_1296477757

2 SubmittersRCV001541972 RCV002071961

NM_032638.5(GATA2):c.1162A>G (p.Met388Val)

SNV
Germline

Chr3:128481300

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Conflicting Classifications

rs_2107668104

2 SubmittersRCV001542175 RCV003771663

NM_032638.5(GATA2):c.1154C>A (p.Pro385Gln)

SNV
Germline

Chr3:128481308

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107668121

1 SubmittersRCV001542172

NM_032638.5(GATA2):c.1143+5G>C

SNV
Unknown

Chr3:128481814

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107668551

1 SubmittersRCV001542171

NM_032638.5(GATA2):c.1143+5G>A

SNV
Germline

Chr3:128481814

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107668551

1 SubmittersRCV001542170

NM_032638.5(GATA2):c.1143+2T>A

SNV
Germline

Chr3:128481817

Pathogenic/Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_2107668560

2 SubmittersRCV001542169 RCV004039253

NM_032638.5(GATA2):c.1132A>T (p.Lys378Ter)

SNV
Unknown

Chr3:128481830

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107668584

1 SubmittersRCV001542166

NM_032638.5(GATA2):c.1129T>G (p.Tyr377Asp)

SNV
Germline

Chr3:128481833

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2107668593

2 SubmittersRCV001542165 RCV001821863

NM_032638.5(GATA2):c.1128C>G (p.Tyr376Ter)

SNV
Germline

Chr3:128481834

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_750890699

1 SubmittersRCV001542164

NM_032638.5(GATA2):c.1123C>T (p.Leu375Phe)

SNV
Germline

Chr3:128481839

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107668602

1 SubmittersRCV001542162

NM_032638.5(GATA2):c.1118G>A (p.Cys373Tyr)

SNV
Unknown

Chr3:128481844

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107668617

1 SubmittersRCV001542129

NM_032638.5(GATA2):c.1113C>G (p.Asn371Lys)

SNV
Germline

Chr3:128481849

Pathogenic/Likely pathogenic

Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML
Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_376003468

2 SubmittersRCV001542125 RCV001859359

NM_032638.5(GATA2):c.1110C>G (p.Cys370Trp)

SNV
Unknown

Chr3:128481852

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107668638

1 SubmittersRCV001542123

NM_032638.5(GATA2):c.1085G>C (p.Arg362Pro)

SNV
Germline

Chr3:128481877

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_867160952

1 SubmittersRCV001542119

NM_032638.5(GATA2):c.1082G>A (p.Arg361His)

SNV
Germline

Chr3:128481880

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_387906634

1 SubmittersRCV001542116

NM_032638.5(GATA2):c.1079G>T (p.Trp360Leu)

SNV
Germline

Chr3:128481883

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107668679

1 SubmittersRCV001542235

NM_032638.5(GATA2):c.1078T>A (p.Trp360Arg)

SNV
Germline

Chr3:128481884

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107668680

1 SubmittersRCV001542234

NM_032638.5(GATA2):c.1076T>C (p.Leu359Ser)

SNV
Germline

Chr3:128481886

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107668687

1 SubmittersRCV001542233

NM_032638.5(GATA2):c.1070C>T (p.Thr357Ile)

SNV
Germline

Chr3:128481892

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections

Criteria Provided
Conflicting Classifications

rs_2107668699

2 SubmittersRCV001542232 RCV002568258

NM_032638.5(GATA2):c.1061C>G (p.Thr354Arg)

SNV
Germline

Chr3:128481901

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_387906631

1 SubmittersRCV001542227

NM_032638.5(GATA2):c.1060A>C (p.Thr354Pro)

SNV
Germline

Chr3:128481902

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107668727

1 SubmittersRCV001542225

NM_032638.5(GATA2):c.1055G>T (p.Cys352Phe)

SNV
Unknown

Chr3:128481907

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107668733

1 SubmittersRCV001542224

NM_032638.5(GATA2):c.1054T>G (p.Cys352Gly)

SNV
Unknown

Chr3:128481908

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_797045591

1 SubmittersRCV001542206

NM_032638.5(GATA2):c.1046G>T (p.Cys349Phe)

SNV
Germline

Chr3:128481916

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_1576745256

1 SubmittersRCV001542201

NM_032638.5(GATA2):c.1045T>G (p.Cys349Gly)

SNV
Unknown

Chr3:128481917

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_1576745260

1 SubmittersRCV001542203

NM_032638.5(GATA2):c.1018-1G>A

SNV
Unknown

Chr3:128481945

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_869320668

1 SubmittersRCV001542152

NM_032638.5(GATA2):c.1018-2A>T

SNV
Unknown

Chr3:128481946

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_1576745322

1 SubmittersRCV001542151

NM_032638.5(GATA2):c.1018-2A>G

SNV
Germline

Chr3:128481946

Pathogenic

Deafness-lymphedema-leukemia syndrome
GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections

Criteria Provided
Multiple Submitters
No Conflicts

rs_1576745322

2 SubmittersRCV001542150 RCV002570650

NM_032638.5(GATA2):c.1017+2T>G

SNV
Unknown

Chr3:128483858

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_1576746830

1 SubmittersRCV001542114

NM_032638.5(GATA2):c.1017+2T>C

SNV
Germline

Chr3:128483858

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_1576746830

1 SubmittersRCV001542115

NM_032638.5(GATA2):c.982C>T (p.Gln328Ter)

SNV
Unknown

Chr3:128483895

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107670346

1 SubmittersRCV001542108

NM_032638.5(GATA2):c.952G>A (p.Ala318Thr)

SNV
Germline

Chr3:128483925

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107670401

1 SubmittersRCV001542105

NM_032638.5(GATA2):c.944T>C (p.Leu315Pro)

SNV
Unknown

Chr3:128483933

Likely pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107670416

1 SubmittersRCV001542103

NM_032638.5(GATA2):c.917G>A (p.Trp306Ter)

SNV
Unknown

Chr3:128483960

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107670463

1 SubmittersRCV001542221

NM_032638.5(GATA2):c.869C>A (p.Ser290Ter)

SNV
Unknown

Chr3:128485729

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2068685370

1 SubmittersRCV001542218

NM_032638.5(GATA2):c.670G>T (p.Glu224Ter)

SNV
Unknown

Chr3:128485928

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107672186

1 SubmittersRCV001542208

NM_032638.5(GATA2):c.538G>T (p.Glu180Ter)

SNV
Unknown

Chr3:128486060

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107672419

1 SubmittersRCV001542183

NM_032638.5(GATA2):c.423C>A (p.Tyr141Ter)

SNV
Germline

Chr3:128486175

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_781744898

1 SubmittersRCV001542181

NM_032638.5(GATA2):c.351C>G (p.Thr117=)

SNV
Germline

Chr3:128486247

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107672788

1 SubmittersRCV001542145

NM_032638.5(GATA2):c.161C>A (p.Ser54Ter)

SNV
Unknown

Chr3:128486871

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107673501

1 SubmittersRCV001542131

NM_032638.5(GATA2):c.130G>T (p.Glu44Ter)

SNV
Germline

Chr3:128486902

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107673544

1 SubmittersRCV001542130

NM_032638.5(GATA2):c.58C>T (p.Gln20Ter)

SNV
Germline

Chr3:128486974

Pathogenic

GATA2 deficiency with susceptibility to MDS/AML
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

rs_2107673689

1 SubmittersRCV001542101

NM_032638.5(GATA2):c.1143+11C>T

SNV
Germline

Chr3:128481808

Conflicting classifications of pathogenicity

not specified
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections

Criteria Provided
Conflicting Classifications

rs_367569053

2 SubmittersRCV001820537 RCV002074340

NM_032638.5(GATA2):c.1019C>A (p.Ser340Ter)

SNV
Germline

Chr3:128481943

Pathogenic

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections

Criteria Provided
Single Submitter

rs_745439347

1 SubmittersRCV001888226

NM_032638.5(GATA2):c.633C>G (p.Val211=)

SNV
Germline

Chr3:128485965

Conflicting classifications of pathogenicity

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_375773132

2 SubmittersRCV002112053 RCV003154061

NM_032638.5(GATA2):c.1180C>T (p.Gln394Ter)

SNV
Germline

Chr3:128481282

Pathogenic

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections

Criteria Provided
Single Submitter

1 SubmittersRCV002856671

NM_032638.5(GATA2):c.99C>A (p.Tyr33Ter)

SNV
Germline

Chr3:128486933

Pathogenic

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections

Criteria Provided
Single Submitter

1 SubmittersRCV002834496

NM_032638.5(GATA2):c.423C>G (p.Tyr141Ter)

SNV
Germline

Chr3:128486175

Pathogenic

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections

Criteria Provided
Single Submitter

1 SubmittersRCV002857223

NM_032638.5(GATA2):c.1192C>G (p.Arg398Gly)

SNV
Germline

Chr3:128481270

Likely pathogenic

Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections

Criteria Provided
Single Submitter

1 SubmittersRCV003043338

NM_032638.5(GATA2):c.871+1G>A

SNV
Germline

Chr3:128485726

Likely pathogenic

Monocytopenia with susceptibility to infections
Deafness-lymphedema-leukemia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003801539