"Molecular Pathology Research Laboratory, SA Pathology"[submitter] AND - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184017	NM_032638.5(GATA2):c.1341C>A (p.Ser447Arg)	GATA2 (S433R +1 more)	Single nucleotide variant (missense variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 800684	NM_032638.5(GATA2):c.1339A>C (p.Ser447Arg)	GATA2 (S433R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1184016	NM_032638.5(GATA2):c.1322_1325dup (p.His442fs)	GATA2 (H428fs +1 more)	Duplication (frameshift variant)	Acute myeloid leukemia +3 more	GConflicting classifications of pathogenicity
Select item 404078	NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr)	GATA2 (S429T +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1184015	NM_032638.5(GATA2):c.1281dup (p.Phe428fs)	GATA2 (F414fs +1 more)	Duplication (frameshift variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 539715	NM_032638.5(GATA2):c.1243G>A (p.Glu415Lys)	GATA2 (E415K +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +2 more	GUncertain significance
Select item 1184014	NM_032638.5(GATA2):c.1200_1216dup (p.Lys406fs)	GATA2 (K392fs +1 more)	Duplication (frameshift variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184201	NM_032638.5(GATA2):c.1143+200_1198del	GATA2	Deletion (splice acceptor variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 938037	NM_032638.5(GATA2):c.1193G>A (p.Arg398Gln)	GATA2 (R398Q +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 29709	NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp)	GATA2 (R398W +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +5 more	GPathogenic
Select item 1184013	NM_032638.5(GATA2):c.1187G>T (p.Arg396Leu)	GATA2 (R382L +1 more)	Single nucleotide variant (missense variant)	GATA2 deficiency with susceptibility to MDS/AML +2 more	GLikely pathogenic
Select item 472437	NM_032638.5(GATA2):c.1187G>A (p.Arg396Gln)	GATA2 (R396Q +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +3 more	GPathogenic
Select item 800683	NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp)	GATA2 (R382W +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1184012	NM_032638.5(GATA2):c.1172_1175del (p.Glu391fs)	GATA2 (E377fs +1 more)	Microsatellite (frameshift variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184011	NM_032638.5(GATA2):c.1168A>G (p.Lys390Glu)	GATA2 (K376E +1 more)	Single nucleotide variant (missense variant)	GATA2 deficiency with susceptibility to MDS/AML +4 more	GConflicting classifications of pathogenicity
Select item 1184010	NM_032638.5(GATA2):c.1163T>C (p.Met388Thr)	GATA2 (M374T +1 more)	Single nucleotide variant (missense variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 1184202	NM_032638.5(GATA2):c.1162A>G (p.Met388Val)	GATA2 (M374V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 404089	NM_032638.5(GATA2):c.1160C>A (p.Thr387Asn)	GATA2 (T387N +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1184200	NM_032638.5(GATA2):c.1154C>A (p.Pro385Gln)	GATA2 (P371Q +1 more)	Single nucleotide variant (missense variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 700890	NM_032638.5(GATA2):c.1143+8C>T	GATA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1184199	NM_032638.5(GATA2):c.1143+5G>C	GATA2	Single nucleotide variant (intron variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 1184198	NM_032638.5(GATA2):c.1143+5G>A	GATA2	Single nucleotide variant (intron variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 1184197	NM_032638.5(GATA2):c.1143+2T>A	GATA2	Single nucleotide variant (splice donor variant)	GATA2 deficiency with susceptibility to MDS/AML +2 more	GPathogenic/Likely pathogenic
Select item 1184196	NM_032638.5(GATA2):c.1142del (p.Asn381fs)	GATA2 (N367fs +1 more)	Deletion (frameshift variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184195	NM_032638.5(GATA2):c.1126_1133dup (p.Lys378fs)	GATA2 (K364fs +1 more)	Duplication (frameshift variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184194	NM_032638.5(GATA2):c.1132A>T (p.Lys378Ter)	GATA2 (K364* +1 more)	Single nucleotide variant (nonsense)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184164	NM_032638.5(GATA2):c.1117_1131del (p.Cys373_Tyr377del)	GATA2	Deletion (inframe_deletion)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 1184193	NM_032638.5(GATA2):c.1129T>G (p.Tyr377Asp)	GATA2 (Y363D +1 more)	Single nucleotide variant (missense variant)	GATA2 deficiency with susceptibility to MDS/AML +2 more	GLikely pathogenic
Select item 1184192	NM_032638.5(GATA2):c.1128C>G (p.Tyr376Ter)	GATA2 (Y362* +1 more)	Single nucleotide variant (nonsense)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184191	NM_032638.5(GATA2):c.1124del (p.Leu375fs)	GATA2 (L361fs +1 more)	Deletion (frameshift variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184190	NM_032638.5(GATA2):c.1123C>T (p.Leu375Phe)	GATA2 (L361F +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +2 more	GLikely pathogenic
Select item 1184009	NM_032638.5(GATA2):c.1123C>G (p.Leu375Val)	GATA2 (L361V +1 more)	Single nucleotide variant (missense variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 1184165	NM_032638.5(GATA2):c.1118G>A (p.Cys373Tyr)	GATA2 (C359Y +1 more)	Single nucleotide variant (missense variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 29720	NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg)	GATA2 (C373R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 846616	NM_032638.5(GATA2):c.1114G>A (p.Ala372Thr)	GATA2 (A358T +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1184163	NM_032638.5(GATA2):c.1113del (p.Asn371fs)	GATA2 (N357fs +1 more)	Deletion (frameshift variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184162	NM_032638.5(GATA2):c.1113C>G (p.Asn371Lys)	GATA2 (N357K +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 216931	NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys)	GATA2 (N371K +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +3 more	GPathogenic/Likely pathogenic
Select item 1184161	NM_032638.5(GATA2):c.1110C>G (p.Cys370Trp)	GATA2 (C356W +1 more)	Single nucleotide variant (missense variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 1184160	NM_032638.5(GATA2):c.1103_1104del (p.Pro368fs)	GATA2 (P354fs +1 more)	Deletion (frameshift variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184159	NM_032638.5(GATA2):c.1099dup (p.Asp367fs)	GATA2 (D353fs +1 more)	Duplication (frameshift variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184158	NM_032638.5(GATA2):c.1099del (p.Asp367fs)	GATA2 (D353fs +1 more)	Deletion (frameshift variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184244	NM_032638.5(GATA2):c.1066_1095del (p.Thr356_Asn365del)	GATA2	Deletion (inframe_deletion)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 29713	NM_032638.5(GATA2):c.1084_1095del (p.Arg362_Asn365del)	GATA2	Deletion (inframe_deletion)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely pathogenic
Select item 1184157	NM_032638.5(GATA2):c.1085G>C (p.Arg362Pro)	GATA2 (R348P +1 more)	Single nucleotide variant (missense variant)	GATA2 deficiency with susceptibility to MDS/AML +2 more	GLikely pathogenic
Select item 435281	NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter)	GATA2 (R362* +1 more)	Single nucleotide variant (nonsense)	Monocytopenia with susceptibility to infections +4 more	GPathogenic/Likely pathogenic
Select item 1184156	NM_032638.5(GATA2):c.1082G>A (p.Arg361His)	GATA2 (R347H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 29721	NM_032638.5(GATA2):c.1082G>T (p.Arg361Leu)	GATA2 (R361L +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 472431	NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys)	GATA2 (R361C +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +5 more	GPathogenic/Likely pathogenic
Select item 435282	NM_032638.5(GATA2):c.1081C>G (p.Arg361Gly)	GATA2 (R361G +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +2 more	GLikely pathogenic
Select item 1184248	NM_032638.5(GATA2):c.1079G>T (p.Trp360Leu)	GATA2 (W346L +1 more)	Single nucleotide variant (missense variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 1184247	NM_032638.5(GATA2):c.1078T>A (p.Trp360Arg)	GATA2 (W346R +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1184246	NM_032638.5(GATA2):c.1076T>C (p.Leu359Ser)	GATA2 (L345S +1 more)	Single nucleotide variant (missense variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 1184243	NM_032638.5(GATA2):c.1066ACC[2] (p.Thr358del)	GATA2 (T344del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1184008	NM_032638.5(GATA2):c.1073C>A (p.Thr358Asn)	GATA2 (T344N +1 more)	Single nucleotide variant (missense variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184245	NM_032638.5(GATA2):c.1070C>T (p.Thr357Ile)	GATA2 (T343I +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1055835	NM_032638.5(GATA2):c.1069A>G (p.Thr357Ala)	GATA2 (T343A +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 29722	NM_032638.5(GATA2):c.1065_1067del (p.Thr358del)	GATA2 (T344del +1 more)	Deletion (inframe_deletion)	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1184242	NM_032638.5(GATA2):c.1061C>G (p.Thr354Arg)	GATA2 (T340R +1 more)	Single nucleotide variant (missense variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 29711	NM_032638.5(GATA2):c.1061C>T (p.Thr354Met)	GATA2 (T354M +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +3 more	GPathogenic
Select item 1184241	NM_032638.5(GATA2):c.1060A>C (p.Thr354Pro)	GATA2 (T340P +1 more)	Single nucleotide variant (missense variant)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184240	NM_032638.5(GATA2):c.1055G>T (p.Cys352Phe)	GATA2 (C352F)	Single nucleotide variant (missense variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 1184227	NM_032638.5(GATA2):c.1054del (p.Cys352fs)	GATA2 (C352fs)	Deletion (frameshift variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184226	NM_032638.5(GATA2):c.1054T>G (p.Cys352Gly)	GATA2 (C352G)	Single nucleotide variant (missense variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 211061	NM_032638.5(GATA2):c.1054T>C (p.Cys352Arg)	GATA2 (C352R)	Single nucleotide variant (missense variant +1 more)	Leukemia, acute myeloid, susceptibility to +2 more	GLikely pathogenic
Select item 800676	NM_032638.5(GATA2):c.1052A>G (p.Asn351Ser)	GATA2 (N351S)	Single nucleotide variant (missense variant +1 more)	Deafness-lymphedema-leukemia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1184220	NM_032638.5(GATA2):c.1031_1049del (p.Arg344fs)	GATA2 (R344fs)	Deletion (frameshift variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184224	NM_032638.5(GATA2):c.1046G>T (p.Cys349Phe)	GATA2 (C349F)	Single nucleotide variant (intron variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 1184225	NM_032638.5(GATA2):c.1045T>G (p.Cys349Gly)	GATA2 (C349G)	Single nucleotide variant (missense variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 802001	NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg)	GATA2 (C349R)	Single nucleotide variant (missense variant +1 more)	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1184223	NM_032638.5(GATA2):c.1041del (p.Cys348fs)	GATA2 (C348fs)	Deletion (frameshift variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184222	NM_032638.5(GATA2):c.1035_1038dup (p.Thr347fs)	GATA2 (T347fs)	Duplication (intron variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 636841	NM_032638.5(GATA2):c.1023_1038dup (p.Thr347fs)	GATA2 (T347fs)	Duplication (frameshift variant +1 more)	Deafness-lymphedema-leukemia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1184179	NM_032638.5(GATA2):c.1018-10_1037del	GATA2	Deletion (splice acceptor variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184221	NM_032638.5(GATA2):c.1035_1036insTCTGGCC (p.Gly346fs)	GATA2 (G346fs)	Insertion (frameshift variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 581129	NM_032638.5(GATA2):c.1036G>A (p.Gly346Ser)	GATA2 (G346S)	Single nucleotide variant (missense variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +4 more	GUncertain significance
Select item 1184020	NM_032638.5(GATA2):c.1034_1035insTCTTCTTGTGGCGGCTCTTCTGGCGGC (p.Ala345_Gly346insLeuLeuValAlaAlaLeuLeuAlaAla)	GATA2	Microsatellite (inframe_insertion +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 1184188	NM_032638.5(GATA2):c.1021_1031del (p.Ala341fs)	GATA2 (A341fs)	Deletion (frameshift variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184180	NM_032638.5(GATA2):c.1018-3_1031del	GATA2	Deletion (intron variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184219	NM_032638.5(GATA2):c.1020_1029dup (p.Arg344fs)	GATA2 (R344fs)	Duplication (frameshift variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184184	NM_032638.5(GATA2):c.1018_1028del	GATA2	Deletion (intron variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184218	NM_032638.5(GATA2):c.1023_1026dup (p.Arg344fs)	GATA2 (R344fs)	Duplication (frameshift variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184178	NM_032638.5(GATA2):c.1018-11_1027del	GATA2	Deletion (intron variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184217	NM_032638.5(GATA2):c.1025_1026insGCCG (p.Arg343fs)	GATA2 (R343fs)	Insertion (frameshift variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184216	NM_032638.5(GATA2):c.1021GCC[1] (p.Ala342del)	GATA2 (A342del)	Microsatellite (inframe_deletion +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184189	NM_032638.5(GATA2):c.1023dup (p.Ala342fs)	GATA2 (A342fs)	Duplication (frameshift variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184187	NM_032638.5(GATA2):c.1021_1024del (p.Ala341fs)	GATA2 (A341fs)	Deletion (frameshift variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 652480	NM_032638.5(GATA2):c.1024G>A (p.Ala342Thr)	GATA2 (A342T)	Single nucleotide variant (missense variant +1 more)	Monocytopenia with susceptibility to infections +6 more	GUncertain significance
Select item 1184215	NM_032638.5(GATA2):c.1023del (p.Ala342fs)	GATA2 (A342fs)	Deletion (frameshift variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184024	NM_032638.5(GATA2):c.1021G>C (p.Ala341Pro)	GATA2 (A341P)	Single nucleotide variant (missense variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GUncertain significance
Select item 800673	NM_032638.5(GATA2):c.1021del (p.Ala341fs)	GATA2 (A341fs)	Deletion (frameshift variant +1 more)	Deafness-lymphedema-leukemia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1184186	NM_032638.5(GATA2):c.1019_1020insCGACTGGGAGGGCAAGGCAG (p.Ala341fs)	GATA2 (A341fs)	Insertion (frameshift variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184185	NM_032638.5(GATA2):c.1019del (p.Ser340fs)	GATA2 (S340fs)	Deletion (frameshift variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184183	NM_032638.5(GATA2):c.1018-1G>A	GATA2	Single nucleotide variant (intron variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GLikely pathogenic
Select item 29716	NM_032638.5(GATA2):c.1018-1G>T	GATA2	Single nucleotide variant (intron variant +1 more)	Deafness-lymphedema-leukemia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1184182	NM_032638.5(GATA2):c.1018-2A>T	GATA2	Single nucleotide variant (intron variant +1 more)	GATA2 deficiency with susceptibility to MDS/AML +1 more	GPathogenic
Select item 1184181	NM_032638.5(GATA2):c.1018-2A>G	GATA2	Single nucleotide variant (intron variant +1 more)	Deafness-lymphedema-leukemia syndrome +2 more	GPathogenic
Select item 1184023	NM_032638.5(GATA2):c.1017+693dup	GATA2	Duplication (intron variant)	Deafness-lymphedema-leukemia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1184022	NM_032638.5(GATA2):c.1017+582G>T	GATA2	Single nucleotide variant (intron variant)	Deafness-lymphedema-leukemia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 566562	NM_032638.5(GATA2):c.1017+572C>T	GATA2	Single nucleotide variant (intron variant)	GATA2 deficiency with susceptibility to MDS/AML +4 more	GPathogenic/Likely pathogenic

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