GATA2 Database

GATA2 Visualization

The GATA2 Database is a curated repository of germline GATA2 variants identified in patients through published literature and direct referrals. Our goal is to provide a comprehensive knowledge base for understanding GATA2 variants. The second release (August 2025) focuses on documentation of published variants and associated main phenotypes.

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

GATA2 transcript version is NM_032638.5. Curated by Lili Kotmayer, MD, PhD. Last updated: 07/29/2025.

Patient ID	Germline mutation (cDNA)	Germline GATA2 mutation (Protein)	Type of mutation (based on VEP)	Population frequency (gnomAD v3.1.2 non-cancer)	Proposed pathogenicity	Inheritance	Year of reporting	PMID	Case also reported in (PMID)	Original patient ID	Presenting diagnosis	Sex (M/F)	Age at diagnosis (yrs)	Karyotype	Signs of immunodeficiency (excl. infections)	Viral infections	Mycobacterial infections	Lymphedema	Deafness	Pulmonary symptoms	Co-occurring somatic mutations
P0001	3q21.1‐q21.3 deletion	3q21.1‐q21.3 deletion	transcript_ablation	Absent	PAT	De novo	2009	19449416	26710799, 22147895	Patient 5 (French girl) / 1 (7108)	MDS	F	11	monosomy 7					Y
P0002	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2011	21670465	20040766, 21816832, 24227816, 23502222, 8701948	1.II.5R/1.II.5/ Kindred 1.II.5/1.II.5/3A	MonoMac, MDS-RCMD, LGL, CMML	F	37	NA	Y	Y	Y			Y	ASXL1
P0003	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2011	21670465	20040766, 23502222, 24227816, 25359990, 28642594	2.II.3/ Kindred 2.II.3	MonoMac, MDS-RAEB2, AML, LGL	M	34	trisomy 8, t(1;7)(q10; p10)	Y	Y	Y			Y
P0004	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21670465	20040766, 23502222, 24227816, 25359990, 23502222, 24077845, 21892162, 28642594, 21816832	5.II.1/ Kindred 5/9	MDS-RCMD, LGL, AML	F	32	trisomy 8, monodicentric chromosome 6	Y	Y	Y			Y
P0005	c.1-200_871+527del	p.Met1del290	transcript_ablation	Absent	PAT	Familial	2011	21670465	20040766, 22147895, 23502222, 24227816, 25359990	13.II.1	MonoMac, MDS	M	31	monosomy 7, trisomy 8	Y	Y	Y			Y
P0006	c.1-200_871+527del	p.Met1del290	transcript_ablation	Absent	PAT	Familial	2011	21670465	20040766, 22147895, 23502222, 24227816, 25359990	13.I.2	DCML, MDS-RCUD, Emberger syndrome	F	60	normal	Y	Y		Y		Y
P0007	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21670465	23365458, 24227816, 25359990, 25111582, 24077845, 28642594, 34529785, 34089740	17.I.1/ 17/ Patient 4/ Kindred 17/ 5	MDS-RCMD	M	28	trisomy 8	Y	Y	Y			Y
P0008	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21670465	24227816, 27169477, 23502222, 28642594, 29375553, 34089740	19.II.1/ Kindred 19	MonoMac	M	20	NA	Y	Y	Y			Y
P0009	c.951_952ins11	p.Asn317PhefsX	frameshift_variant	Absent	LPAT	NA	2011	21670465		22	NA	NA	NA	NA
P0010	uniallelic expression of GATA2	uniallelic expression of GATA2	transcript_ablation	Absent	PAT	NA	2011	21670465	24227816, 23502222	23.I.1 / Kindred 23	MDS-RCMD	M	21	NA	Y		Y
P0011	c.310_311insCC	p.Leu105ProfsX15	frameshift_variant	Absent	PAT	Familial	2011	21892158		Emb-01 II-1	Emberger-syndrome	M	NA	NA	Y			Y
P0012	c.310_311insCC	p.Leu105ProfsX15	frameshift_variant	Absent	PAT	Familial	2011	21892158		Emb-01 II-4	MDS, AML	F	50	NA		Y		Y
P0013	c.310_311insCC	p.Leu105ProfsX15	frameshift_variant	Absent	PAT	Familial	2011	21892158		Emb-01 III-1	MDS, AML	F	11	NA				Y
P0014	c.310_311insCC	p.Leu105ProfsX15	frameshift_variant	Absent	PAT	Familial	2011	21892158		Emb-01 III-3	MDS, AML	F	9	monosomy 7
P0015	c.310_311insCC	p.Leu105ProfsX15	frameshift_variant	Absent	PAT	Familial	2011	21892158		Emb-01 III-4	Emberger-syndrome	M	NA	NA	Y			Y
P0016	c.230-1_230insC	p.Arg78ProfsX107	frameshift_variant	Absent	PAT	Familial	2011	21892158		Emb-02 I-2	Emberger-syndrome	F	NA	NA				Y
P0017	c.230-1_230insC	p.Arg78ProfsX107	frameshift_variant	Absent	PAT	Familial	2011	21892158		Emb-02 II-1	Emberger-syndrome	F	16	monosomy 7				Y
P0018	c.230-1_230insC	p.Arg78ProfsX107	frameshift_variant	Absent	PAT	Familial	2011	21892158		Emb-02 II-2	MDS, AML	M	17	monosomy 7				Y
P0019	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	12145700, 28642594	1/III-2	MDS, AML	M	16	1q isochromosome	Y
P0020	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	12145700, 28642594	1/III-4	MDS, AML	F	32	NA	Y
P0021	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	28642594	1/III-5	asymptomatic	M	NA	NA
P0022	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	28642594	1/III-8	asymptomatic	M	NA	NA
P0023	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	28642594	1/III-9	MDS, AML	M	30	NA
P0024	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	37406166, 28642594	1/IV-1 / Family_1541.001	MDS-RCMD, AML	M	teenager	monosomy 7, trisomy 21
P0025	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	28642594	1/IV-2	MDS, AML	F	15	NA							SETBP1, RUNX1, ASXL1, CSF3R, NF1, NRAS
P0026	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	28642594	2/II-4	MDS	M	45	monosomy 7, trisomy 8
P0027	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	28642594	2/III-4	MDS	M	20	monosomy 7
P0028	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	28642594	2/III-5	asymptomatic	M	NA	NA
P0029	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	28642594	3/II-2	leukemia	F	59	NA
P0030	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	28642594	3/II-4	symptomatic	M	NA	NA
P0031	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	28642594	3/II-9	AML-M2	F	32	const. 9p21-22 variation
P0032	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	28642594	3/III-1	MDS, AML-M2	M	38	normal
P0033	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	28642594	3/III-4	MDS, AML	M	23	NA
P0034	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	28642594	3/III-6	MDS-RA, AML	M	35	NA
P0035	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	28642594	3/III-9	asymptomatic	M	61	NA
P0036	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	28642594	3/IV-1	AML-M7	F	21	monosomy 7, trisomy 8, t(1q:7p)
P0037	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21892162	28642594	3/IV-5	MDS	M	15	monosomy 7, const. 9p21-22 variation
P0038	c.1063_1065del	p.Thr355del	inframe_deletion	Absent	LPAT	Familial	2011	21892162		4/II-2	MDS-RCMD	M	53	trisomy 8
P0039	c.1063_1065del	p.Thr355del	inframe_deletion	Absent	LPAT	Familial	2011	21892162		4/III-1	MDS	M	13	monosomy 7
P0040	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	Familial	2014	24345756	29295841	14.I.1	DCML	M	60	normal	Y	Y	Y
P0041	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	NA	2011	21242295	21765025, 24345756, 28642594	2.I.1 / Subject 2	DCML	NA	27	normal	Y	Y	Y
P0042	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2011	21242295	21765025, 24345756, 29295841, 28642594	3.III.1	DCML	F	21	normal	Y	Y				Y
P0043	c.1018-1G>T	p.?	splice_acceptor_variant	Absent	PAT	NA	2011	21242295	21765025, 24345756	4.I.1	DCML, MDS	NA	23	normal	Y	Y	Y
P0044	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2012	22147895	28642594	FHCRC-97 / Patient 1	MDS, DCML, aplastic anemia	F	10	del(5q)	Y	Y					biCEBPA
P0045	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2012	22147895	28642594	FHCRC-84 / Patient 2	MDS	F	14	monosomy 7
P0046	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2012	22147895	28642594	FHCRC-95 / Patient 3	MDS, DCML	F	44	trisomy 8
P0047	3q21.3-q22.3 deletion	3q21.3-q22.3 deletion	transcript_ablation	Absent	PAT	De novo	2012	22147895		GC54819	MDS, DCML	M	NA	NA
P0048	3q13.33-q21.3 deletion	3q13.33-q21.3 deletion	transcript_ablation	Absent	PAT	De novo	2012	22147895		GC42542	MDS, AML, DCML	M	16	trisomy 21				Y
P0049	c.310_311insCC	p.Leu105ProfsX15	frameshift_variant	Absent	PAT	NA	2012	22533337		2	MDS, AML, Emberger-syndrome	F	12	monosomy 7				Y
P0050	c.121C>G	p.Pro41Ala	missense_variant	0.0005068	VUS	Familial	2012	22533337		Family 12 Proband	MDS-RAEB	F	48	NA
P0051	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2012	22533337	32098966, 28642594,	Family 23-23	AML	M	14	NA
P0052	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2012	22533337	32098966, 28642594,	Family 26-Proband	MDS-RAEB	F	26	hyperdiploidy
P0053	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2012	22533337	28642594	Family 23-brother of 23	MDS	M	16	NA
P0054	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2012	22533337	28642594	Family 26-sister	MDS	F	28	normal
P0055	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2012	22271902	28642594	III-5	asymptomatic	M	52	NA
P0056	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2012	22271902	28642594	III-1	asymptomatic	M	60	NA
P0057	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2012	22271902	28642594	III-7	asymptomatic	M	51	NA
P0058	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2012	22271902	32098966, 28642594	IV-1	MDS-RAEB1	M	18	monosomy 7	Y	Y					ASXL1
P0059	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2012	22271902	32098966, 28642594	IV-6	MDS-RAEB2	M	23	monosomy 7, isochromosome 17							ASXL1
P0060	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2012	22271902	32098966, 28642594	IV-10	symptomatic	F	31	normal	Y
P0061	c.871+2_3insT	p.?	splice_donor_variant	Absent	LPAT	NA	2017	26395816	39497062	African American woman	HLH, blastomycosis	F	18	NA	Y	Y		Y
P0062	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	Familial	2013	23728141	24227816, 27169477, 25359990, 24077845, 29375553, 34089740, 34529785	42.I.1 / Filipino man / 43/ 19	MonoMac, MDS-RCMD	M	18	normal	Y	Y	Y				KDM2A
P0063	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2013	23502222		25.I.1	MonoMac, MDS	NA	13	NA	Y	Y	Y
P0064	c.769_778dup	p.Tyr260fsX25	frameshift_variant	Absent	PAT	Familial	2013	23502222	24227816, 25359990, 24077845, 21670465, 21892162, 8701948, 21816832, 36357187	15/ Kindred 20/Patient 6/ 20.I.3/20.I.1	MonoMac, MDS	M	13	monosomy 7	Y	Y	Y	Y
P0065	c.941_951dup	p.Ala318ThrfsX12	frameshift_variant	Absent	LPAT	NA	2013	23502222	24227816, 25359990, 24077845, 21670465, 36357187	22.I.1/39/ Kindred 22 / Patient 3	MonoMac, MDS-RCMD	F	25	monosomy 6	Y	Y	Y	Y		Y
P0066	c.1163T>C	p.Met388Thr	missense_variant	Absent	LPAT	Familial	2013	23502222		30.II.1	MonoMac	NA	21	NA	Y	Y	Y
P0067	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2013	23502222	24227816, 20040766, 37406166	4.II.5R/ 4.II.5 / Family_4_3	MDS, AML	F	19	monosomy 7	Y	Y					IRF4
P0068	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2013	23502222	24227816, 37406166, 34529785	4.III.2R/ 4.III.2 / Family_4_4/ 91	asymptomatic	F	23	NA	Y
P0069	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2013	23502222	37406166	4.III.3 / Family_4_5	asymptomatic	NA	21	NA	Y
P0070	c.1017+512del	p.=	regulatory_region_variant	Absent	VUS	Familial	2013	23502222	24227816, 20040766, 23365458, 22996659, 24077845, 34529785	6.I.1R/ 6.I.1/ Patient 5/ 25/ 102	symptomatic	M	13	NA	Y			Y
P0071	c.1017+512del	p.=	regulatory_region_variant	Absent	VUS	Familial	2013	23502222		6.III.2	asymptomatic	NA	1.5	NA
P0072	c.1-276T>G	p.=	regulatory_region_variant	Absent	VUS	Familial	2013	23502222		33.II.1	symptomatic	NA	50	NA
P0073	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2013	23223431	29724903, 22533337, 36727400, 28642594	P46 (mother)/ Family 23 Mother/ P1.II-4 (#6227)/ 66	AML-M2	F	35	normal	Y	Y					ASXL1, SETBP1, U2AF1
P0074	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2013	23223431	26710799, 29724903, 22533337, 36727400, 28642594	P46*/Family 23 Brother/ P1.III-2/ 64 / P1.III-2/ 6 (6165)	immunodeficiency, MDS-RCMD	M	16	trisomy 8	Y	Y				Y
P0075	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2013	23223431	29724903, 22533337, 36727400, 28642594	P46 (brother)/ Family 23 Brother/ P1.III-3 / 63 (6225)	immunodeficiency, AML-M2	M	12	trisomy 11, monosomy 7, si,del(7)(q32), si,del(7)(7p?ter-7q11::7q22q31)	Y						WT1
P0076	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2013	23223431	29724903, 36727400, 28642594	P46 (brother) / 65	MDS	M	6	monosomy 7	Y	Y					ASXL1
P0077	c.1114G>A	p.Ala372Thr	missense_variant	Absent	LPAT	Familial	2013	23223431	29724903, 36727400	P36* / 34	AML-M5	F	13	monosomy 7, trisomy 15, trisomy 20, t(11;19)	Y	Y
P0078	c.1162A>G	p.Met388Val	missense_variant	Absent	LPAT	Familial	2013	23223431	29724903	P43 (mother)	WHIM-like syndrome, MDS	F	30	trisomy 8	Y	Y
P0079	c.1162A>G	p.Met388Val	missense_variant	Absent	LPAT	Familial	2013	23223431	29724903	P43*	MDS	M	12	trisomy 8, monosomy 7q	Y
P0080	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	Familial	2013	23223431	29724903, 36727400	P15* / 37	AML-M2	M	8	trisomy 1, der(1;7)(q10;p10),9qh+c[5], trisomy 1q, monosomy 7q	Y	Y
P0081	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	Familial	2013	23223431	29724903	P15 (brother)	MDS	M	19	trisomy 1,der(1;7)(q10;p10), monosomy 21	Y	Y
P0082	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	Familial	2013	23223431	29724903	P15 (brother)	symptomatic	M	14	normal	Y
P0083	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	Familial	2013	23223431	29724903	P15 (father)	asymptomatic	M	56	NA	Y
P0084	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	Familial	2013	23223431	29724903	P15 (paternal uncle)	symptomatic	M	31	NA	Y	Y
P0085	c.1025_1026insGCCG	p.Ala342GlyfsX41	frameshift_variant	Absent	LPAT	NA	2013	23365458	2543925	Patient 1	NK-cell deficiency, aplastic anemia	F	NA	NA	Y	Y				Y
P0086	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2013	23365458	20040766, 23502222, 24227816, 21892162, 24077845, 37406166	4.II.1/Patient 3/ 5 /Family_4_2	NK-cell deficiency, MDS-RCMD, LGL	F	38	normal	Y	Y	Y			Y	ASXL1, U2AF1
P0087	c.417dup	p.Val140CysfsX44	frameshift_variant	Absent	PAT	De novo	2013	23365458	24227816, 25359990, 24077845, 30578959, 34529785	38.I.1/ 33/ Patient 8/ Patient 13/ 15	NK-cell deficiency, MDS-RCUD	F	7	normal	Y	Y					ASXL1, ASXL1, JAK2
P0088	c.77A>C	p.His26Pro	missense_variant	Absent	VUS	Familial	2013	23563236	32098966	index patient	MDS	F	30	normal	Y	Y				Y
P0088	c.83del	p.Gly28AlafsX52	frameshift_variant	Absent	PAT	Familial	2013	23563236	32098966	index patient	MDS	F	30	normal	Y	Y				Y
P0089	c.77A>C	p.His26Pro	missense_variant	Absent	VUS	Familial	2013	23563236	32098966, 29375553	index patient (patient II-9) father	MDS, EBV+ peripheral T-cell NHL	M	NA	monosomy 7		Y
P0089	c.83del	p.Gly28AlafsX52	frameshift_variant	Absent	PAT	Familial	2013	23563236	32098966, 29375553	index patient (patient II-9) father	MDS, EBV+ peripheral T-cell NHL	M	NA	monosomy 7		Y
P0090	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2014	24077845	24227816, 25359990, 23502222, 21892162, 25111582, 34529785	35.III.3/1	MDS-RCMD	M	32	trisomy 8	Y					Y
P0091	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2014	24077845	23502222, 24227816, 34529785	25.II.1/ 2	MDS-RCMD	M	34	normal		Y	Y				ASXL1, PTPN11, SMC1A, STAG2
P0092	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2014	24077845	24227816, 20040766, 28642594	3.I.1/ 8/ Kindred 3	CMML, MonoMAC, LGL	F	49	NA	Y						ASXL1
P0093	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2014	24077845	24227816, 20040766, 21670465, 28642594, 27169477, 29375553	1.II.1/4A/ Kindred 1.II.1	MonoMac, CMML	F	40	normal	Y	Y	Y			Y	ASXL1
P0094	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2014	24077845	30578959, 24227816, 23502222, 20040766, 23365458, 30578959, 37406166, 34529785	4.I.1R/ 4.I.1/Patient ID#24W / 6 / Family_4_1/ 97	CMML, LGL	M	78	normal		Y					TET2, TET2, TET2
P0095	c.243delinsGC	p.Gly82fsX?	frameshift_variant	Absent	LPAT	De novo	2014	24077845	21670465, 24227816, 25359990, 23502222, 20040766, 21816832, 8701948, 34529785	8.I.1/ Kindred 8/ 7/ Patient 1	MDS-RCMD	M	30	normal	Y	Y	Y				DNMT3A, STAG2
P0096	c.1083_1094del	p.Arg361del4ArgAsnAlaAsn	inframe_deletion	Absent	LPAT	NA	2014	24077845	20040766, 21670465, 24227816, 25359990, 23365458, 34089740, 34529785	12.I.1/ Patient 2/ 10/ Kindred 12/ 4	MDS-RCMD	M	28	monosomy 7, trisomy 8, trisomy 21	Y	Y	Y			Y	ASXL1
P0097	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2014	24077845	24227816, 25359990, 23502222, 20040766	13/11.II.1	MDS-RCUD	F	31	normal	Y	Y					ASXL1
P0098	c.1113C>G	p.Asn371Lys	missense_variant	Absent	PAT	NA	2014	24077845	20040766, 21670465, 24227816	10.I.1/ 14/ Kindred 10	MDS-RAEB1, AML, MonoMAC	F	37	monosomy 7, marker chromosome	Y						ASXL1
P0099	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2014	24077845	21670465, 24227816, 30578959, 8701948, 28642594, 34089740	16/ Kindred 18/ 18.I.2/ Patient ID#12W	MDS-RCMD, MonoMac	F	16	trisomy 8	Y		Y			Y	ASXL1
P0100	c.1018-1G>A	p.? (r.340_381del)	splice_acceptor_variant	Absent	PAT	NA	2014	24077845	24227816, 25359990, 21670465	24.I.1/18/ Kindred 24	MDS-RCMD, LGL	F	44	der(22)t(1;22)(q12;p13)/der(15)t(1;15)(q12;p13)	Y	Y	Y				ASXL1
P0101	c.302del	p.Gly101fsX?	frameshift_variant	Absent	PAT	NA	2014	24077845	24227816, 23365458, 23502222, 34529785	26.I.1/ Patient 7/19/ 7	CMML, MDS, AML	F	22	monosomy 7, trisomy 8, del(11)(q13q23)	Y	Y					ASXL1, CBL, DNMT3A
P0102	c.1116_1130del	p.Cys373del5	inframe_deletion	Absent	LPAT	Familial	2014	24077845	24227816	34.II.1/20C	MDS	M	15	monosomy 7
P0103	c.1116_1130del	p.Cys373del5	inframe_deletion	Absent	LPAT	Familial	2014	24077845	24227816, 34529785	34.I.1R/21C/ 9	MDS	F	50	normal
P0104	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2014	24077845	23502222, 24227816, 28642594	40.I.1R/40.I.1/ 22	asymptomatic	M	55	normal	Y
P0105	c.1099dup	p.Asp367GlyfsX15	frameshift_variant	Absent	PAT	Familial	2014	24077845	24227816, 25359990	33.III.1/ 23A	MDS-RCMD	F	17	normal	Y		Y				ASXL1
P0106	c.1099dup	p.Asp367GlyfsX15	frameshift_variant	Absent	PAT	Familial	2014	24077845	24227816	33.III.3R/24A	symptomatic	F	10	normal	Y
P0107	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2014	24077845	24227816, 23502222, 23365458, 20040766, 22996659	6.II.1/ Patient 5/ 25	MDS-RCMD	F	26	normal	Y	Y	Y
P0108	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2014	24077845	30578959, 25359990, 24227816, 28642594, 34089740	31.II.1/26D/ Patient ID#6W	MDS-RCMD	M	31	normal	Y	Y				Y	STAG2
P0109	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2014	24077845	24227816, 25359990, 28642594, 34529785	31.II.2R/27D/ 10	MDS-RCMD	M	29	normal	Y						STAG2
P0110	c.586_593dup	p.Gly199LeufsX21	frameshift_variant	Absent	PAT	Familial	2014	24077845	30578959, 24227816, 23502222, 34529785	27.I.1/ 28/ Patient ID#10W/ 11	MDS	F	46	9q deletion		Y	Y				ASXL1
P0111	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	De novo	2014	24077845	30578959, 24227816, 25359990, 28825694, 27169477, 29375553, 34529785	30E/Patient ID#7W/39.I.1/ 13	MDS-RCMD	F	25	trisomy 8	Y	Y					STAG2
P0112	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	De novo	2014	24077845	30578959, 24227816, 25359990, 28825694, 27169477, 29375553, 34529785	31E/ Patient ID#8W/39.I.2/ 12	MDS-RCMD	F	25	trisomy 8	Y	Y		Y			ASXL1
P0113	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	De novo	2014	24077845	20040766, 21670465, 24227816, 25359990, 23365458, 23502222, 34089740, 34529785	15.I.1/32/ Patient 6/ Kindred 15/ 14	MDS-RCMD	F	13	trisomy 8, marker chromosome	Y	Y	Y			Y	STAG2
P0114	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	NA	2014	24077845		34	MDS	M	15	monosomy 7
P0115	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2014	24077845	24227816, 25359990, 20040766, 21670465, 23502222	9.III.1/ Kindred 9/ 35	MDS-RCMD, MonoMac	M	22	normal	Y	Y
P0116	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2022	34529785	34089740	9.II.1	MDS	M	22	normal						Y	BCOR, SRSF2, STAG
P0117	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2022	34529785		9.III.2	asymptomatic	M	NA	normal
P0118	c.1017+512C>T	p.=	regulatory_region_variant	Absent	VUS	NA	2014	24077845	23502222	36 / 28.I.1	MDS	F	24	normal	Y	Y					ASXL1
P0119	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	De novo	2014	24077845	24227816, 23502222, 34529785	37.I.1/37/ 92	MDS-RCMD	F	26	normal	Y		Y			Y	DNMT3A, FLT3
P0120	c.1123C>T	p.Leu375Phe	missense_variant	Absent	LPAT	Familial	2014	24359037	24077845	38 / Saudi Arabian man	MonoMac, MDS	M	24	normal	Y	Y	Y
P0121	c.1163T>C	p.Met388Thr	missense_variant	Absent	LPAT	Familial	2014	24077845	24227816, 23502222	30.II.1/40B	symptomatic	F	43	normal	Y	Y	Y			Y
P0122	c.1163T>C	p.Met388Thr	missense_variant	Absent	LPAT	Familial	2014	24077845		41	NA	M	77	normal
P0123	c.1009C>T	p.Arg337X	stop_gained	Absent	PAT	De novo	2014	24077845	23502222, 24227816, 25359990, 34529785	42/41.I.1/ 18	MDS-RCMD, Emberger-syndrome	F	44	monosomy 7	Y	Y		Y			ASXL1, DNMT3A, SMC1A
P0124	c.793_802del	p.Phe265fsX?	frameshift_variant	Absent	LPAT	NA	2014	24077845		44	MDS	M	26	normal
P0125	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	De novo	2014	24077845	30578959, 24227816, 27169477, 28642594, 29375553, 34089740	14.I.1/46	MDS, DCML	F	7	normal	Y	Y				Y
P0126	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2014	24077845	24227816, 21670465, 8701948, 25359990, 20040766, 21816832, 28642594, 34089740	21.II.1/47/ Kindred 21	MDS-RCMD, MonoMac	M	33	deletion of chromosome Y	Y	Y	Y			Y
P0127	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	NA	2014	24077845	25359990, 34529785	48/50/ 146.I.1	MDS-RAEB1	M	31	normal						Y	DNMT3A, STAG2
P0128	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2014	24227816	34529785	4.III.1R/ 96	symptomatic	M	30	NA				Y
P0129	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2014	24227816	28642594, 34529785	17.II.2/ 98	asymptomatic	M	5	NA
P0130	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2022	34529785		17.II.1	G2BMID	M	NA	normal							STAG2
P0131	c.1116_1130del	p.Cys373del5	inframe_deletion	Absent	LPAT	Familial	2014	24077845	24227816, 25359990, 34089740, 34529785	34.II.2R/34.II.2/20C/ 8	MDS-RCUD	M	14	monosomy 7	Y					Y	STAG2
P0132	c.1163T>C	p.Met388Thr	missense_variant	Absent	LPAT	Familial	2014	24227816	23502222	30.I.1	GATA2 deficiency	M	65	NA		Y
P0133	c.1163T>C	p.Met388Thr	missense_variant	Absent	LPAT	Familial	2014	24227816		30.II.4	symptomatic	F	30	NA		Y
P0134	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2014	24227816	28642594	40.II.1	MDS-RCMD	M	18	trisomy 8		Y
P0135	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2014	24227816	28642594	40.II.2	MDS-RCMD	M	16	trisomy 8		Y
P0136	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2014	24227816	28642594	40.II.3	MDS-RCMD	M	14	trisomy 8		Y
P0137	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2014	24345756	28642594	3.II.6	MDS, DCML	F	34	NA	Y	Y				Y
P0138	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2014	24345756	28642594	3.III.3	asymptomatic	F	26	NA
P0139	c.599del	p.Gly200ValfsX18	frameshift_variant	Absent	PAT	Familial	2014	24345756		6.I.1	symptomatic	NA	18	NA	Y	Y		Y		Y
P0140	c.599del	p.Gly200ValfsX18	frameshift_variant	Absent	PAT	Familial	2014	24345756		6.II.1	MDS	NA	17	NA	Y
P0141	c.599del	p.Gly200ValfsX18	frameshift_variant	Absent	PAT	Familial	2014	24345756		6.II.2	symptomatic	NA	13	NA		Y
P0142	c.318_319insT	p.Ser106fsX?	frameshift_variant	Absent	PAT	Familial	2014	24345756		7.I.1	symptomatic	NA	10	NA		Y				Y
P0143	c.318_319insT	p.Ser106fsX?	frameshift_variant	Absent	PAT	Familial	2014	24345756		7.II.1	symptomatic	F	10	NA		Y		Y
P0144	c.1193G>A	p.Arg398Gln	missense_variant	Absent	PAT	Familial	2014	24345756		8.I.2	asymptomatic	F	62	NA
P0145	c.1193G>A	p.Arg398Gln	missense_variant	Absent	PAT	Familial	2014	24345756		8.I.3	symptomatic	M	25	monosomy 7		Y
P0146	c.1193G>A	p.Arg398Gln	missense_variant	Absent	PAT	Familial	2014	24345756	29295841	8.II.1	MDS, AML	M	36	NA	Y	Y	Y			Y
P0147	c.1193G>A	p.Arg398Gln	missense_variant	Absent	PAT	Familial	2014	24345756		8.II.4	asymptomatic	M	32	NA
P0148	c.1193G>A	p.Arg398Gln	missense_variant	Absent	PAT	Familial	2014	24345756		8.II.5	asymptomatic	M	29	NA
P0149	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2014	24345756	4508672, 28642594	9.III.1	MDS	F	31	NA	Y	Y	Y			Y
P0150	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2014	24345756	4508672, 28642594	9.III.2	DCML	F	29	NA		Y
P0151	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2014	24345756	4508672, 28642594	9.III.3	asymptomatic	M	22	NA
P0152	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2014	24345756	4508672, 28642594	9.III.4	symptomatic	M	17	NA
P0153	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2014	24345756	4508672, 28642594	9.III.5	MDS	F	17	trisomy 8	Y
P0154	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	NA	2014	24345756	21765025	1.I.1	symptomatic	NA	60	trisomy 8	Y					Y
P0155	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	Familial	2011	21242295	21765025, 24345756, 29295841, 36727400	14.II.2 / 5	MDS	M	30	NA	Y	Y	Y			Y	GATA2, ASXL1
P0156	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2014	24726394		Patient 1	symptomatic	M	3	NA	Y	Y	Y			Y
P0157	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2014	24726394		Patient 2	symptomatic	F	48	NA	Y
P0158	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	NA	2014	24782121		Patient 1	MDS-RAEB2, AML, monoMAC	M	35	trisomy 8		Y	Y				EZH2, GATA1, HECW2
P0159	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2014	25111582		MRD 2	MDS-RCMD	F	46	NA	Y	Y	Y			Y
P0160	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2014	25111582		URD 5	MDS-RCMD	M	33	deletion of chromosome Y	Y	Y	Y
P0161	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2014	25111582		UCB 9	MDS-RAEB2, AML	F	41	monosomy 6, +r	Y	Y	Y			Y
P0162	c.892dup	p.Cys298LeufsX86	frameshift_variant	Absent	PAT	Familial	2015	26022708		Family 1 - Patient 1	MDS, MonoMac	NA	NA	trisomy 8, der(1;7)(q10;p10)
P0163	c.892dup	p.Cys298LeufsX86	frameshift_variant	Absent	PAT	Familial	2015	26022708		Family 1 - Patient 2	MDS, MonoMac	NA	NA	trisomy 8,der(1;7)(q10;p10)							GATA2, RUNX1
P0164	c.802G>T	p.Gly268X	stop_gained	Absent	PAT	Familial	2015	26022708		Family 2 - Patient 4	MDS-RCMD, Emberger-syndrome	NA	NA	monosomy 7							NRAS, TP53, WT1
P0165	c.1018-2A>G	p.?	splice_acceptor_variant	Absent	PAT	Familial	2015	26022708		Family 3 - Patient 5	MDS	NA	NA	monosomy 7							ASXL1, SETBP1
P0166	c.1018-2A>G	p.?	splice_acceptor_variant	Absent	PAT	Familial	2015	26022708		Family 3 - Patient 6	Emberger-syndrome	F	NA	NA				Y
P0167	c.1339A>C	p.Ser447Arg	missense_variant	Absent	LPAT	Familial	2015	25619630	31246134	5 / Family 1 P1 (IV-2)	AML	M	38	trisomy 1, der(1;21), (q10;q10), trisomy 8	Y	Y				Y	ASXL1, DNMT3A, ETV6
P0168	c.1339A>C	p.Ser447Arg	missense_variant	Absent	LPAT	Familial	2015	25619630	31246134	7 / Family 1 P2 (IV-4)	MDS	F	35	normal	Y	Y					ASXL1
P0169	c.1339A>C	p.Ser447Arg	missense_variant	Absent	LPAT	Familial	2015	25619630	31246134	4 / Family 1 P3 (V-1)	MDS	F	10	normal	Y	Y
P0170	c.1339A>C	p.Ser447Arg	missense_variant	Absent	LPAT	Familial	2015	25619630	31246134	6 / Family 1 P4 (V-3)	Emberger-syndrome, aplastic anemia, MDS	M	7	normal	Y	Y		Y		Y	ASXL1
P0171	c.1339A>C	p.Ser447Arg	missense_variant	Absent	LPAT	Familial	2015	25619630	31246134	2 / Family 1 (III-8)	MDS	F	56	normal
P0172	c.1339A>C	p.Ser447Arg	missense_variant	Absent	LPAT	Familial	2015	25619630	31246134	3	suboptimal NK cell function	F	30	NA	Y						ASXL1
P0173	c.1339A>C	p.Ser447Arg	missense_variant	Absent	LPAT	Familial	2015	25619630	31246134	1	asymptomatic	F	35	normal
P0174	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	Familial	2015	25879889		Caucasian Family-oldest son	GATA2 deficiency	M	17	NA	Y	Y				Y
P0175	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	Familial	2015	25879889		Caucasian Family-youngest son	GATA2 deficiency	M	13	NA	Y
P0176	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	Familial	2015	25879889		Caucasian Family-Father	GATA2 deficiency	M	45	NA	Y
P0177	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	Familial	2015	25239263		FH-181	MDS	F	22	trisomy 8
P0178	c.1078T>A	p.Trp360Arg	missense_variant	Absent	PAT	Familial	2015	25239263		CH-119	symptomatic	M	12	trisomy 8						Y
P0179	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2015	26492932	28642594	1003-001	MDS, AML	F	33	NA
P0180	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2015	26492932	28642594	1003-003	AML	M	68	normal							HNRNPK, RUNX1
P0181	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2016	27013649		UPN4 RCC	MDS-RCC	NA	17	monosomy 7		Y
P0182	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	Familial	2016	27013649		UPN5 ID/RCC	immunodeficiency	NA	17	normal		Y				Y
P0183	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2016	27013649		UPN6 RCC	MDS-RCC	NA	17	monosomy 7
P0184	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	Familial	2016	27013649		UPN7 ID/ RCMD in adulthood	MDS-RCMD	NA	17	monosomy 7	Y	Y				Y
P0185	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	Familial	2016	27013649		UPN8 FS	symptomatic	M	NA	normal
P0186	c.917G>A	p.Trp306X	stop_gained	Absent	PAT	NA	2016	27416790		P1	AML, MDS	M	16	monosomy 7		Y		Y
P0187	c.1009C>T	p.Arg337X	stop_gained	Absent	PAT	Familial	2016	27416790		P2	MDS	M	11	monosomy 7	Y	Y			Y
P0188	c.302del	p.Gly101fsX?	frameshift_variant	Absent	PAT	Familial	2016	27418648		HIP08919	MDS	M	12	NA
P0189	c.1017+2T>C	p.? (r.Ser340AlafsX49)	splice_donor_variant	Absent	PAT	NA	2016	27418648		HIP17707	MDS	M	14	NA
P0190	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	NA	2016	27418648		HIP18921	MDS	F	6	NA
P0191	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2016	27418648	28642594	HIP18952	MDS	F	10	NA
P0192	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	NA	2016	27418648		HIP20476	MDS	F	16	NA
P0193	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2017	28947108	28747912	Patient 1 / Patient 4	GATA2 deficiency, BM aplasia	F	37	NA	Y	Y		Y		Y
P0194	c.952G>A	p.Ala318Thr	missense_variant	Absent	VUS	Familial	2017	28066994		Patient 1	MDS	F	10	trisomy 8	Y
P0195	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	Familial	2017	28825694		Twin 1	MDS	F	27	trisomy 8	Y	Y	Y
P0196	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	Familial	2017	28825694		Twin 2	MDS	F	27	trisomy 8	Y	Y
P0197	c.1018-1G>A	p.? (r.340_381del)	splice_acceptor_variant	Absent	PAT	NA	2017	29296959		BMF41	MDS-RCC, AML	F	9	monosomy 7							RUNX1, SETBP1, IKZF1
P0198	c.1018-2A>C	p.?	splice_acceptor_variant	Absent	PAT	NA	2017	29296959		BMF67	MDS-RCC	M	15	normal
P0199	c.1144-1G>C	p.?	splice_acceptor_variant	Absent	LPAT	NA	2017	29296959		BMF109	MDS-RCC	F	5	monosomy 7
P0200	c.599del	p.Gly200ValfsX18	frameshift_variant	Absent	PAT	De novo	2017	29296959		BMF129	MDS-RCC	F	8	monosomy 7
P0201	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2017	27680514		son (III-1)	MonoMac, MDS	M	18	trisomy 8							STAG2
P0202	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2017	27680514		father (II-1)	MonoMac, MDS	M	17	NA							STAG2, BCOR, FANCA
P0203	c.1339A>C	p.Ser447Arg	missense_variant	Absent	LPAT	Familial	2017	28259234		NA	GATA2 deficiency	M	9	NA		Y		Y
P0204	c.130G>T	p.Glu44X	stop_gained	Absent	PAT	Familial	2017	28271814		I-1	asymptomatic	F	33	NA
P0205	c.130G>T	p.Glu44X	stop_gained	Absent	PAT	Familial	2017	28271814		II-5	asymptomatic	M	6	NA
P0206	c.130G>T	p.Glu44X	stop_gained	Absent	PAT	Familial	2017	28271814	24167460	II-1	symptomatic	M	13	NA	Y	Y		Y
P0207	c.130G>T	p.Glu44X	stop_gained	Absent	PAT	Familial	2017	28271814	24167460	II-2	AML	F	12	NA	Y	Y		Y		Y
P0208	c.130G>T	p.Glu44X	stop_gained	Absent	PAT	Familial	2017	28271814	24167460	II-4	symptomatic	M	8	NA		Y		Y
P0209	c.1079G>T	p.Trp360Leu	missense_variant	Absent	LPAT	Familial	2017	29146883		UB023	MDS	M	21	monosomy 7
P0210	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	Familial	2017	29146883		UB040	MDS-RAEB	F	14	tri(8),del20q
P0211	c.423C>A	p.Tyr141X	stop_gained	Absent	PAT	Familial	2017	29146883		UB064	MDS	F	16	monosomy 7							TERC
P0212	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	Familial	2017	29146883		UB076	aplastic anemia	M	7	monosomy 7
P0213	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	Familial	2017	29146883		UB097	MDS, MonoMac	M	8	monosomy 7
P0214	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	Familial	2017	29146883		UB105	aplastic anemia	M	13	NA
P0215	c.229+13_229+14insGCCins203_229+13	p.?	splice_region_variant	Absent	VUS	Familial	2018	29724903		P2*	MDS	F	19	trisomy 8		Y
P0216	c.229+13_229+14insGCCins203_229+13	p.?	splice_region_variant	Absent	VUS	Familial	2018	29724903		P2 (mother)	MDS	F	44	normal	Y	Y
P0217	c.437del	p.Gly146ValfsX72	frameshift_variant	Absent	PAT	Familial	2018	29724903	36727400	P6* / 55	immunodeficiency, MDS	F	17	normal		Y					STAG2, STAG2, STAG2, STAG2, STAG2, STAG2
P0218	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2018	29724903		P16*	MDS	NA	22	der(Y)t(Y;1)(q11.23;q21)		Y
P0219	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2018	29724903		P16 (brother)	NA	M	32	NA
P0220	c.1018_1028del	p.Ser340LysfsX40	frameshift_variant	Absent	PAT	Familial	2018	29724903		P17*	MDS	NA	10	normal			Y
P0221	c.1018_1028del	p.Ser340LysfsX40	frameshift_variant	Absent	PAT	Familial	2018	29724903		P17 (daughter)	symptomatic	F	9	NA
P0222	c.1023del	p.Ala342ProfsX45	frameshift_variant	Absent	PAT	Familial	2018	29724903	33417088	P19*	symptomatic	NA	11	normal		Y	Y
P0223	c.1023del	p.Ala342ProfsX45	frameshift_variant	Absent	PAT	Familial	2018	29724903	33417088	P19 (sister)	symptomatic	F	11	normal		Y	Y
P0224	c.1076T>C	p.Leu359Ser	missense_variant	Absent	LPAT	Familial	2018	29724903	36727400	P25* / 38	MDS	NA	61	del(5)(q2?3q 3?3)				Y			ASXL1, CBL, TET2
P0225	c.1077_1082dup	p.Trp360_Arg361dup	inframe_insertion	Absent	LPAT	Familial	2018	29724903		P26 (daughter)	asymptomatic	F	10	NA
P0226	c.1085G>C	p.Arg362Pro	missense_variant	Absent	LPAT	Familial	2018	29724903	36727400	P34* / 74	MDS, AML	M	17	trisomy 8		Y					NRAS, PTPN11, SF3B1, SMC1A, TP53
P0227	c.1085G>C	p.Arg362Pro	missense_variant	Absent	LPAT	Familial	2018	29724903		P34 (brother)	MDS, AML	M	17	monosomy 7	Y			Y
P0228	c.1114G>A	p.Ala372Thr	missense_variant	Absent	LPAT	Familial	2018	29724903		P37*	MDS	F	42	trisomy 8	Y			Y
P0229	c.1154C>A	p.Pro385Gln	missense_variant	Absent	LPAT	Familial	2018	29724903	36727400	P42* / 52	MDS	F	18	normal	Y	Y	Y	Y
P0230	c.1154C>A	p.Pro385Gln	missense_variant	Absent	LPAT	Familial	2018	29724903		P42 (sister)	MDS	F	17	normal		Y		Y
P0231	c.1154C>A	p.Pro385Gln	missense_variant	Absent	LPAT	Familial	2018	29724903	36727400	P42 (son) / 51	asymptomatic	M	15	NA
P0232	c.1154C>A	p.Pro385Gln	missense_variant	Absent	LPAT	Familial	2018	29724903		P42 (sister)	T-ALL	F	24	monosomy 7	Y
P0233	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	Familial	2018	29724903	36727400	P45* (sister) / 69	immunodeficiency, MDS, AML	F	9	monosomy 7, monosomy 21							KRAS, PTPN11, SETBP1
P0234	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	Familial	2018	29724903	36727400, 39497062	P45 (brother) / 70	MDS, HLH?	M	7	monosomy 7	Y						SETBP1
P0235	c.1193G>A	p.Arg398Gln	missense_variant	Absent	PAT	Familial	2018	29724903	33417088, 39497062	P48*	MDS, HLH	NA	19	normal			Y
P0236	c.1193G>A	p.Arg398Gln	missense_variant	Absent	PAT	Familial	2018	29724903	36727400	P48 (son) / 19	asymptomatic	M	13	NA
P0237	c.1193G>A	p.Arg398Gln	missense_variant	Absent	PAT	Familial	2018	29724903	36727400	P48 (daughter) / 20	asymptomatic	F	6	NA
P0238	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2018	30232126		1	AML-MRC	M	21	monosomy 7, trisomy 13							NRAS
P0239	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2018	30232126		1 mother	asymptomatic	F	64	NA							SETBP1
P0240	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	Familial	2018	30232126		2	MDS	M	13	monosomy 7		Y
P0241	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	Familial	2018	30232126		2 identical twin	MDS	M	31	NA	Y	Y				Y	STAG2
P0242	c.1018-50_1143+247del	p.?	splice_acceptor_variant	Absent	PAT	Familial	2018	30232126		3A	MDS	F	15	NA
P0243	c.1018-50_1143+247del	p.?	splice_acceptor_variant	Absent	PAT	Familial	2018	30232126		3B	MDS	F	18	monosomy 18, trisomy 22		Y
P0244	c.1018-50_1143+247del	p.?	splice_acceptor_variant	Absent	PAT	Familial	2018	30232126	34529785	3A 3B sibling #1 / 333.II.3	AML, MDS	M	29	trisomy 8, deletion 7q			Y				DNMT3A, STAG2, STAG2
P0245	c.1018-50_1143+247del	p.?	splice_acceptor_variant	Absent	PAT	Familial	2018	30232126		3A 3B sibling #2	MDS	M	51	trisomy 8	Y	Y		Y
P0246	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2018	29156497		Patient 1	MDS	F	28	trisomy 1q	Y	Y
P0247	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2018	29412158		MRD 2	MDS	F	29	trisomy 21, trisomy 1q		Y
P0248	c.1116_1130del	p.Cys373del5	inframe_deletion	Absent	LPAT	Familial	2018	29412158		URD 2	MDS	M	17	monosomy 7		Y
P0249	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	Familial	2018	29412158		URD 4	MDS	M	22	normal		Y	Y
P0250	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	Familial	2018	29412158		URD 5	MDS	M	18	normal		Y			Y
P0251	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2018	29412158		URD 8	MDS	M	33	normal		Y
P0252	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	Familial	2018	29412158		URD 9	MDS	F	24	normal		Y			Y
P0253	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2018	29412158		URD 11	MDS	F	38	monosomy 13, trisomy 1q, deletion of chromosome X		Y	Y
P0254	c.1128C>A	p.Tyr376X	stop_gained	Absent	PAT	Familial	2018	29412158	34529785	URD 12 / 50.II.2/ 38	MDS	F	18	normal		Y			Y	Y	STAG2
P0255	c.1128C>A	p.Tyr376X	stop_gained	Absent	PAT	Familial	2022	34529785	34469508	50.II.1/ 39 / P10	MDS	M	23	der(1;7)(q10;p10), trisomy 8		Y			Y		STAG2
P0256	c.988G>T	p.Arg330X	stop_gained	Absent	PAT	NA	2018	29412158		Haplo 2	MDS	F	27	trisomy 8		Y	Y
P0257	c.988G>T	p.Arg330X	stop_gained	Absent	PAT	NA	2018	29412158		Haplo 3	MDS	F	27	trisomy 8		Y
P0258	c.1019_1020insCGACTGGGAGGGCAAGGCAG	p.Ala341AspfsX53	frameshift_variant	Absent	LPAT	NA	2018	29189513		Patient 1	Emberger-syndrome	F	9	normal	Y	Y			Y
P0259	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2018	29588856		P1 (1 family)	aplastic anemia, GATA2 deficiency	F	19	NA	Y	Y
P0260	c.1187G>T	p.Arg396Leu	missense_variant	Absent	PAT	Familial	2018	29882021		P1	MDS	M	30	NA	Y	Y
P0261	c.1187G>T	p.Arg396Leu	missense_variant	Absent	PAT	Familial	2018	29882021		P2	MDS	M	15	NA	Y	Y
P0262	c.1187G>T	p.Arg396Leu	missense_variant	Absent	PAT	Familial	2018	29882021		P3	symptomatic	F	17	NA	Y	Y				Y
P0263	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	NA	2018	30030275		Patient 1	symptomatic	F	48	normal	Y	Y	Y			Y
P0264	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	Familial	2018	30030275		Patient 2 (pedigree III-1)	AML	F	22	monosomy 7		Y
P0265	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2019	30578959		1	MDS	F	23	normal	Y	Y	Y	Y			ASXL1
P0266	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	NA	2019	30578959		2	MDS	F	37	trisomy 1q, loss of X, trisomy 8	Y	Y	Y				MLL, ASXL1
P0267	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	NA	2019	30578959		3	MDS	M	23	normal	Y	Y	Y			Y	BCOR
P0268	c.1114G>A	p.Ala372Thr	missense_variant	Absent	LPAT	NA	2019	30578959		4	MDS	F	44	tirsomy 8	Y	Y					DNMT3A
P0269	c.802G>T	p.Gly268X	stop_gained	Absent	PAT	NA	2019	30578959		9	MDS	F	53	13q deletion	Y	Y		Y		Y	STAG2, MLL
P0270	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2019	30578959		11	MDS	F	28	normal	Y	Y	Y	Y			ASXL1
P0271	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2019	30578959		14	GATA2 deficiency related bone marrow and immunodeficiency disorder	M	17	normal	Y	Y
P0272	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2019	30578959		15	GATA2 deficiency related bone marrow and immunodeficiency disorder	F	23	normal	Y	Y
P0273	c.1021G>C	p.Ala341Pro	missense_variant	Absent	VUS	NA	2019	30578959		16	GATA2 deficiency related bone marrow and immunodeficiency disorder	M	25	normal	Y	Y
P0274	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2019	30578959		17	GATA2 deficiency related bone marrow and immunodeficiency disorder	M	41	trisomy 8	Y	Y	Y				ASXL1
P0275	c.1036G>A	p.Gly346Ser	missense_variant	Absent	VUS	NA	2019	30578959		Patient ID#18	GATA2 deficiency related bone marrow and immunodeficiency disorder	M	20	normal	Y
P0276	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2019	30578959		19	asymptomatic	F	60	normal
P0277	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2019	30578959		20	asymptomatic	F	31	normal
P0278	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2019	30578959		21	asymptomatic	F	51	normal
P0279	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2019	30578959		22	symptomatic	M	54	normal	Y
P0280	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2019	30578959		23	symptomatic	M	61	normal		Y					CEBPA
P0281	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	NA	2019	30578959		25	symptomatic	M	7	normal
P0282	c.58C>T	p.Gln20X	stop_gained	Absent	PAT	Familial	2019	30802360		NA	T-cell precursor ALL, GATA2 deficiency	F	8	dic(21;22)(p11.2;p11.2)	Y	Y
P0283	c.1123C>T	p.Leu375Phe	missense_variant	Absent	LPAT	NA	2019	31245276		Patient 1	MDS, GATA2 deficiency, AML	F	25	trisomy 8, trisomy 20	Y	Y		Y			NRAS
P0284	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2019	31035956		43-year-old white male	MDS-RAEB2, MonoMac	M	43	NA	Y		Y			Y
P0285	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2019	31035956		son 2	asymptomatic	M	21	NA
P0286	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2019	31035956		son 1	asymptomatic	M	28	NA
P0287	c.17_18del	p.Glu6AlafsX178	frameshift_variant	Absent	PAT	NA	2019	31033783		17-year-old boy	MDS, MonoMac	M	17	normal	Y		Y			Y
P0288	c.(16bp tandem repeat in exon 4)	p.Thr347fsX?	frameshift_variant	Absent	PAT	Familial	2019	30564229	39497062	Patient 2	HLH, GATA2 deficiency	M	7	NA	Y	Y				Y
P0289	c.(16bp tandem repeat in exon 4)	p.Thr347fsX?	frameshift_variant	Absent	PAT	Familial	2019	30564229		Patient 3 (Mother patient 2)	symptomatic	F	NA	NA	Y
P0290	c.1021del	p.Ala341ProfsX46	frameshift_variant	Absent	PAT	NA	2019	30697248		Patient 1	GATA2 deficiency	M	24	NA	Y	Y		Y
P0291	c.956_962del	p.Cys319SerfsX5	frameshift_variant	Absent	PAT	Familial	2019	31106410		P1	MonoMac	M	12	NA	Y		Y
P0292	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	NA	2019	31106410		P2	MonoMac, low risk MDS	F	20	NA	Y	Y	Y
P0293	c.956_962del	p.Cys319SerfsX5	frameshift_variant	Absent	PAT	Familial	2019	31106410		father of P1	asymptomatic	M	48	NA
P0294	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2019	31106410		father of P2	asymptomatic	M	55	NA
P0295	c.821del	p.Phe274fsX?	frameshift_variant	Absent	PAT	Familial	2019	31309983		20	AML-MRC	M	18	monosomy 7, trisomy 8	Y
P0296	c.610C>T	p.Arg204X	stop_gained	Absent	PAT	NA	2019	31309983		48	AML-MRC	M	6	monosomy 7	Y
P0297	c.1085G>A	p.Arg362Gln	missense_variant	Absent	PAT	Familial	2019	31309983		105	MDS	M	57	normal
P0298	c.706A>G	p.Met236Val	missense_variant	2.705E-05	VUS	Familial	2019	31309983		236	AML-MRC, β-thalassemia, pure erythroid leukemia	M	30	complex karyotype
P0299	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2019	31309983		275	bone marrow and immunodeficiency disorder	F	44	normal	Y	Y	Y
P0300	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2019	31309983		337	MDS	F	31	trisomy 8	Y	Y	Y
P0301	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2019	31753093		11-year-old girl	Emberger-syndrome, MDS, AML	F	11	NA					Y
P0302	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2019	30714451		Patient	MDS	F	27	trisomy 8							AAK1, ZNF117, ZNF680, KMT2D, ABCC6, ZNF208, ZNF253, ZNF675, PLCG1
P0303	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2019	30714451		Twin sister	symptomatic	F	27	NA							ZNF273, ZNF135, ZNF253, ZNF708, ZNF276, ZNF814, ZNF91
P0304	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2019	32914014		Patient 1	GATA2 deficiency	M	24	normal	Y	Y
P0305	heterozygous deletion that included at least exon 2 of the GATA2 gene	heterozygous deletion that included at least exon 2 of the GATA2 gene	transcript_ablation	Absent	PAT	NA	2019	32914014		Patient 2	AML	F	36	t(2;12)(p21;p13)	Y	Y	Y				CEBPA, NPM1, STAG2, NRAS
P0306	c.1034_1035insTCTTCTTGTGGCGGCTCTTCTGGCGGC	p.Ala345delinsAlaLeuLeuValAlaAlaLeuLeuAlaAla	inframe_insertion	Absent	LPAT	Familial	2020	32286542	37406166	III-1 / Family_00B5.046	GATA2 deficiency	F	29	trisomy 8, der(1;15)(q10;q10)	Y	Y		Y
P0307	c.1034_1035insTCTTCTTGTGGCGGCTCTTCTGGCGGC	p.Ala345delinsAlaLeuLeuValAlaAlaLeuLeuAlaAla	inframe_insertion	Absent	LPAT	Familial	2020	32286542	37406166	II-1 / Family_00B5.047	symptomatic	F	50	NA	Y
P0308	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2020	32098966		FML018 index case (III.1)	AML	F	17	NA
P0309	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2020	32098966		FML018 asymptomatic father	asymptomatic	M	NA	NA
P0310	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	Familial	2020	32098966		FML019	MDS	F	36	trisomy 8					Y
P0311	c.1121G>A	p.Gly374Asp	missense_variant	Absent	VUS	NA	2020	32497548		Patient 1	GATA2 deficiency	F	20	NA	Y			Y
P0312	c.1041del	p.Cys348ValfsX39	frameshift_variant	Absent	PAT	De novo	2014	10.14785	28234738	Case report / Patient 1	MDS, Emberger-syndrome	F	4	monosomy 7	Y	Y		Y	Y
P0313	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2010	20040766	21670465, 28642594	5.III.1	AML blast crisis	M	17	NA		Y
P0314	c.1023_1026dup	p.Arg344fsX?	frameshift_variant	Absent	PAT	Familial	2020	32865708		Brother	AML	M	15	monosomy 7	Y					Y
P0315	c.1023_1026dup	p.Arg344fsX?	frameshift_variant	Absent	PAT	Familial	2020	32865708		Sister	MDS	F	21	normal		Y				Y
P0316	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	Familial	2020	32488879	37406166	IV-4 / Family_40499.001	MDS, AML	F	19	monosomy 7	Y						SETBP1
P0317	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	Familial	2020	32488879		IV-6	symptomatic	M	25	NA	Y
P0318	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	Familial	2020	32488879		III-2	symptomatic	F	59	NA	Y			Y
P0319	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	Familial	2020	32488879		IV-1	symptomatic	F	NA	NA	Y			Y
P0320	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	Familial	2020	32488879		IV-2	symptomatic	M	18	NA
P0321	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	Familial	2020	32488879		III-4	MDS	M	NA	normal	Y
P0322	c.1341C>A	p.Ser447Arg	missense_variant	Absent	PAT	NA	2024	39614632		36-year-old woman	AML-MRC	F	36	42,XX,del(3)(q12),-5,add(7)(q32),-11,-13,-16,-17,del(20)(q11.2),+mar,inc [3]/46,XX[17]							TP53, STAG2
P0323	c.1017G>T	p.Leu339Leu (r.Ser340ValfsX48)	splice_donor_variant	Absent	PAT	Familial	2020	32556286		Patient 1	MDS	F	17	monosomy 7, trisomy 8
P0324	c.1017G>T	p.Leu339Leu (r.Ser340ValfsX48)	splice_donor_variant	Absent	PAT	Familial	2020	32556286		Patient 2	MDS	F	42	trisomy 8
P0325	c.1061C>A	p.Thr354Lys	missense_variant	Absent	LPAT	Familial	2020	32556286		Patient 3	MDS	F	22	normal			Y			Y
P0326	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	NA	2020	32556286		Patient 4	MDS	F	32	normal		Y
P0327	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2020	32556286		Patient 5	MDS	F	33	normal	Y	Y
P0328	c.1021del	p.Ala341ProfsX46	frameshift_variant	Absent	PAT	NA	2020	32556286		Patient 6	MDS, Emberger-syndrome	M	13	normal		Y
P0329	c.1150del	p.Arg384GlyfsX3	frameshift_variant	Absent	PAT	NA	2020	32556286		Patient 7	MDS, mediastinal T cell lymphoma	M	14	normal	Y				Y
P0330	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	Familial	2020	32556286		Patient 8	MDS	M	39	trisomy 8, t(1;7)(q10;p10)
P0331	c.1072A>C	p.Thr358Pro	missense_variant	Absent	LPAT	NA	2020	32655615		AM01	AML	M	48	NA	Y						BCOR, CBL, CSF3R, EZH2, RUNX1
P0332	c.1072A>C	p.Thr358Pro	missense_variant	Absent	LPAT	NA	2020	32655615		AM03	AML	M	58	NA	Y						BCOR, KIT
P0333	c.535A>T	p.Lys179X	stop_gained	Absent	PAT	Familial	2020	32718260		16-year-old nonwhite boy	AML	M	16	NA		Y
P0334	3.1-3.3 Mb het del encompassing GATA2	3.1-3.3 Mb het del encompassing GATA2	transcript_ablation	Absent	PAT	De novo	2017	29296959		BMF52	MDS-RCC, AML	M	12	monosomy 7							CRLF2
P0335	whole gene deletion	whole gene deletion	transcript_ablation	Absent	PAT	NA	2017	29146883		UB101	MDS	M	19	normal
P0336	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	Familial	2016	26748574		Patient 1	Emberger-syndrome, DCML deficiency, MDS-RCMD	M	13	normal	Y			Y	Y
P0337	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	Familial	2016	26748574		Father of Patient 1	Emberger-syndrome, DCML deficiency, MDS-RCMD	M	38	del(7q), trisomy 8	Y				Y
P0338	uniallelic expression of GATA2	uniallelic expression of GATA2	transcript_ablation	Absent	PAT	NA	2013	23502222	29156497, 24227816	29.I.1	MDS, AML	F	45	trisomy 8						Y
P0339	c.610C>T	p.Arg204X	stop_gained	Absent	PAT	NA	2019	31279773		19-year-old man	MDS, EBV-positive PBL	M	19	monosomy 7	Y	Y	Y			Y	STAG2
P0340	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	NA	2019	30933029		17-year-old male individual	MDS	M	17	NA
P0341	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2019	31322613		40-year-old man (father)	MDS	M	33	NA	Y	Y	Y			Y
P0342	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2019	31322613		10-year-old son	symptomatic	M	4	NA
P0343	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2019	31322613		18-year-old son	MDS	M	16	NA		Y
P0344	NA	p.Arg337ThrfsX45	frameshift_variant	Absent	LPAT	NA	2020	32643807		Indian male	MDS	M	20	normal	Y		Y	Y
P0345	c.1117_1119delinsGGG	p.Cys373Gly	inframe_insertion	Absent	LPAT	Familial	2020	32682923		Family A III.1	MDS	M	19	trisomy 8	Y	Y		Y		Y
P0346	c.1117_1119delinsGGG	p.Cys373Gly	inframe_insertion	Absent	LPAT	Familial	2020	32682923		Family A III.2	symptomatic	F	16	normal	Y	Y
P0347	c.1117_1119delinsGGG	p.Cys373Gly	inframe_insertion	Absent	LPAT	Familial	2020	32682923		Family A III.3	symptomatic	F	13	normal	Y	Y
P0348	c.1117_1119delinsGGG	p.Cys373Gly	inframe_insertion	Absent	LPAT	Familial	2020	32682923	36268026	Family A III.4 / P01	MDS	F	22	partial duplication of chromosome 1	Y	Y				Y
P0349	c.1117_1119delinsGGG	p.Cys373Gly	inframe_insertion	Absent	LPAT	Familial	2020	32682923	36268026	Family A III.5 / P02	MDS-EB2, AML	M	22	monosomy 7, trisomy 8	Y	Y		Y		Y
P0350	c.1117_1119delinsGGG	p.Cys373Gly	inframe_insertion	Absent	LPAT	Familial	2020	32682923		Family A II.3	MDS	M	53	trisomy 8	Y	Y				Y
P0351	c.1117_1119delinsGGG	p.Cys373Gly	inframe_insertion	Absent	LPAT	Familial	2020	32682923		Family A II.2	symptomatic	F	52	normal	Y	Y
P0352	c.1085G>A	p.Arg362Gln	missense_variant	Absent	PAT	Familial	2020	32682923		Family B I.1	symptomatic	M	67	NA	Y
P0353	c.1085G>A	p.Arg362Gln	missense_variant	Absent	PAT	Familial	2020	32682923		Family B II.2	symptomatic	F	43	NA
P0354	c.1085G>A	p.Arg362Gln	missense_variant	Absent	PAT	Familial	2020	32682923		Family B II.3	symptomatic	M	39	NA
P0355	c.1085G>A	p.Arg362Gln	missense_variant	Absent	PAT	Familial	2020	32682923		Family B III.1	AML, chloroma	M	18	NA							ASXL1
P0356	c.1085G>A	p.Arg362Gln	missense_variant	Absent	PAT	Familial	2020	32682923		Family B III.2	AML	F	15	NA
P0357	5'UTR deletion	5'UTR deletion	transcript_ablation	Absent	PAT	NA	2014	24077845		29	MDS	F	48	trisomy 8
P0358	c.857C>T	p.Ala286Val	frameshift_variant	Absent	PAT	Familial	2017	28104920	29365323, 37406166	6 / 30 / Family_0148.041	CMML, sAML, MDS	F	41	NA							NRAS, NRAS, ASXL1, EZH2
P0359	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	NA	2021	34469508	40664679	A029	MDS-RCC	M	12.1	der(1;7), monosomy 7, monosomy 22				Y			RUNX1
P0360	c.303del	p.Ala103GlnfsX16	frameshift_variant	Absent	PAT	NA	2016	26702063	34469508	A044	MDS-RCC	F	12.4	der(1;7), +mar					Y
P0361	c.1018-11_1027del	p.?	splice_acceptor_variant	Absent	LPAT	NA	2016	26702063		A056	MDS-RAEB	M	16.1	monosomy 7							ASXL1, SETBP1
P0362	c.1021del	p.Ala341ProfsX46	frameshift_variant	Absent	PAT	NA	2025	40664679		A098	MDS-EB	M	12.7	monosomy 7							EZH2, SETBP1
P0363	c.968dup	p.His323GlnfsX61	frameshift_variant	Absent	LPAT	NA	2016	26702063		B002	MDS-RCC (RAEB)	M	14.5	monosomy 7				Y			ASXL1, SETBP1
P0364	c.1046G>T	p.Cys349Phe	missense_variant	Absent	LPAT	De novo	2016	26702063		B032	MDS-RAEBt	F	12.7	monosomy 7						Y	SETBP1
P0365	c.1066_1095del	p.Thr356_Asp365del	inframe_deletion	Absent	LPAT	De novo	2016	26702063		CZ041	MDS-RCC (RAEB)	M	15.7	monosomy 7
P0366	c.1035_1038dup	p.Thr347ArgfsX38	frameshift_variant	Absent	PAT	De novo	2016	26702063		CZ053	MDS-RAEB	M	4.4	monosomy 7		Y					ASXL1, NF1, SETBP1
P0367	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2016	26702063		CZ054	MDS-RCC	M	16.9	monosomy 7
P0368	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2016	26702063		CZ057	MDS-RAEB (MDR-AML)	M	17.4	monosomy 7							ASXL1, EZH2, PTPN11, RUNX1, SETBP1
P0369	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2016	26702063	34469508, 40664679	CZ061	MDS-RCC	M	17.5	normal (later monosomy 7)
P0370	c.222_229+6delins21	p.?	splice_region_variant	Absent	VUS	De novo	2016	26702063	27013649, 40664679	CZ087	MDS-RCC	M	11.4	monosomy 7, trisomy 8				Y
P0371	c.393_399del	p.Gly132LeufsX84	frameshift_variant	Absent	LPAT	NA	2025	40664679		CZ101	MDS-RCC	M	12.2	monosomy 7		Y		Y	Y		ASXL1, SETBP1
P0372	c.689_711dup	p.Thr238AlafsX4	frameshift_variant	Absent	PAT	Familial	2025	40664679		CZ110	MDS-EB/AML	F	10.9	normal
P0373	c.689_711dup	p.Thr238AlafsX4	frameshift_variant	Absent	PAT	Familial	2025	40664679		CZ121	MDS-RCC	F	14.7	monosomy 7 + add (trisomy 8)
P0374	c.627_630dup	p.Val211ArgfsX72	frameshift_variant	Absent	LPAT	NA	2016	26702063	40664679	D076	MDS-RCC (RAEB)	M	12.5	monosomy 7							SETBP1, STAG2
P0375	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2016	26702063	40664679	D147	MDS-RCC (RAEB)	M	14.2	monosomy 7 + add							ASXL1
P0376	c.1113C>A	p.Asn371Lys	missense_variant	Absent	PAT	Familial	2016	26702063	40664679	D151	MDS-RCC (MDR-AML)	F	16.0	trisomy 8 +add		Y					STAG2
P0377	c.1054T>G	p.Cys352Gly	missense_variant	Absent	LPAT	NA	2016	26702063	40664679	D184	MDS-RAEB (MDR-AML)	F	8.8	monosomy 7		Y					ETV6, EZH2, SETBP1, SETBP1, TET2
P0378	c.1110C>G	p.Cys370Trp	missense_variant	Absent	VUS	NA	2016	26702063	40664679	D245	MDS-RAEBt	M	8.7	monosomy 7			Y				IKZF1
P0379	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	Familial	2016	26702063	40664679	D271	MDS-RAEB	M	12.5	monosomy 7							RPL10
P0380	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	Familial	2016	26702063	40664679	D314	MDS-RAEB	F	10.7	monosomy 7 + add	Y						ASXL1, ASXL1, JAK2, SETBP1, WAS
P0381	c.416_417del	p.Ser139CysfsX45	frameshift_variant	Absent	PAT	Familial	2016	26702063	40664679	D342	MDS-RCC	M	16.6	monosomy 7	Y
P0382	c.207_208del	p.Val70LeufsX114	frameshift_variant	Absent	PAT	NA	2016	26702063	34469508, 40664679	D350	MDS-RAEB	M	11.0	der(1;7), trisomy 8		Y		Y			RUNX1, EZH2
P0383	c.1341C>A	p.Ser447Arg	missense_variant	Absent	PAT	Familial	2016	26702063	40664679	D415	MDS-RAEB	F	13.6	monosomy 7	Y	Y					ASXL1, RUNX1, SETBP1
P0384	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	NA	2016	26702063	40664679	D418	MDS-RAEBt	M	7.3	monosomy 7						Y	RUNX1
P0385	del3q21.2–21.3 (3.6Mb)	del3q21.2–21.3 (3.6Mb)	transcript_ablation	Absent	PAT	NA	2016	26702063	40664679	D420	MDS-RCC/RAEB-t	F	15.0	monosomy 7	Y			Y
P0386	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2016	26702063	28642594, 40664679	D427	MDS-RAEB	F	12.9	monosomy 7 + add	Y						RUNX1
P0387	c.599del	p.Gly200ValfsX18	frameshift_variant	Absent	PAT	NA	2016	26702063	40664679	D429	MDS-RCC	F	16.3	normal							STAG2
P0388	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2016	26702063	40664679	D479	MDS-RCC	F	16.8	normal	Y						ASXL1
P0389	c.1017+1del	p.?	splice_donor_variant	Absent	LPAT	NA	2016	26702063	40664679	D492	MDS-RCC (RAEB)	M	17.4	monosomy 7		Y
P0390	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	NA	2025	40664679		D522	MDR-AML	F	11.7	monosomy 7 + add
P0391	c.1031_1049del	p.Arg344LysfsX37	frameshift_variant	Absent	PAT	De novo	2016	26702063	40664679	D569	MDS-RCC	F	10.3	normal	Y	Y			Y	Y
P0392	c.1017+532T>A	p.=	regulatory_region_variant	Absent	VUS	NA	2016	26702063	40664679	D609	MDS-RCC	M	3.1	normal		Y				Y
P0393	c.685del	p.Leu229CysfsX5	frameshift_variant	Absent	LPAT	NA	2016	26702063	40664679	D612	MDS-RCC	M	7.5	monosomy 7		Y				Y	SETBP1
P0394	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	NA	2016	26702063	28642594, 40664679	D621	MDS-RCC	M	15.9	monosomy 7	Y
P0395	c.1018-10_1037del	p.?	splice_acceptor_variant	Absent	PAT	Familial	2016	26702063	40664679	D680	MDS-RCC	M	12.1	monosomy 7	Y	Y					SETBP1, STAG2
P0396	c.981G>A	p.Gly327Gly	synonymous_variant	Absent	VUS	NA	2023	38067298	40664679	D722	MDS-RCC	M	10.7	normal
P0397	c.303del	p.Ala103GlnfsX16	frameshift_variant	Absent	PAT	De novo	2016	26702063	40664679	D726	MDS-RAEB	F	9.6	monosomy 7		Y					ASXL1, ASXL1, SETBP1, WAS
P0398	c.306del	p.Ala103GlnfsX17	frameshift_variant	Absent	LPAT	NA	2016	26702063	40664679	D731	MDS-EB	F	5.2	monosomy 7 + add	Y	Y				Y	SETBP1
P0399	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	NA	2020	32555368	40664679	D749	MDS-EB	F	14.2	monosomy 7							ASXL1, KMT2C, KRAS
P0400	c.1113C>G	p.Asn371Lys	missense_variant	Absent	PAT	NA	2016	26702063	40664679	D762	MDS-RAEBt	M	9.7	monosomy 7						Y	KRAS, STAG2
P0401	c.599del	p.Gly200ValfsX18	frameshift_variant	Absent	PAT	NA	2016	26702063	38067298, 40664679	D770	MDS-RAEB	F	10.2	monosomy 7 + add	Y	Y					ASXL1, ASXL1, CBL, MYB, SETBP1
P0402	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2016	26702063	40664679	D794	MDS-RCC (RAEB)	F	6.1	monosomy 7 + add	Y	Y
P0403	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2016	26702063	38067298, 34469508, 28642594, 40664679	D801	MDS-RCC	M	15.6	normal (later monosomy 7)	Y				Y		KRAS
P0404	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2025	40664679		sister of D801	AML	F	16.9	trisomy 8	Y						STAG2
P0405	c.1018-10_1037del	p.?	splice_acceptor_variant	Absent	PAT	Familial	2016	26702063	38067298, 40664679	D807	MDS-RCC	M	13.7	normal		Y
P0406	c.932_937delinsG	p.Thr311ArgfsX71	frameshift_variant	Absent	LPAT	NA	2016	26702063	40664679	D907	MDS-RAEB (MDR-AML)	F	7.5	monosomy 7		Y
P0407	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	Familial	2016	26702063	40664679	D955	MDS-RAEBt	F	11.4	monosomy 7							SETBP1
P0408	c.1017+582G>T	p.=	regulatory_region_variant	Absent	VUS	Familial	2016	26702063	40664679	D983	MDS-RCC	M	13.4	normal
P0409	c.1128C>G	p.Tyr376X	stop_gained	Absent	PAT	De novo	2016	26702063	38067298, 40664679	D1010	MDS-RCC	M	12.7	normal	Y	Y		Y	Y
P0410	c.1113C>A	p.Asn371Lys	missense_variant	Absent	PAT	Familial	2016	26702063	38067298, 40664679	D1064	MDS-EB	F	6.5	monosomy 7
P0411	c.1143+1G>A	p.?	splice_donor_variant	Absent	PAT	De novo	2016	26702063	38067298, 40664679, 29146900	D1072 / P16	MDS-RCC	F	16.2	monosomy 7							SETBP1
P0412	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2016	26702063	38067298, 40664679	D1119	MDS-RCC	F	15.1	trisomy 8	Y	Y
P0413	c.1045T>A	p.Cys349Ser	missense_variant	Absent	LPAT	Familial	2016	26702063	38067298, 40664679	D1140	MDS-RCC	M	10.2	normal (trisomy 8 in 2016)	Y
P0414	c.1045T>A	p.Cys349Ser	missense_variant	Absent	LPAT	Familial	2016	26702063	38067298, 40664679	D1141	MDS-RCC	M	16.3	normal	Y						STAG2
P0415	c.1045T>A	p.Cys349Ser	missense_variant	Absent	LPAT	Familial	2025	40664679		brother of D 1140 & D 1141	NK-lymphopenia	M	6.5	normal	Y
P0416	c.1023C>T	p.Ala341Ala	synonymous_variant	2.029E-05	VUS	NA	2020	32555368	40664679	D1142	MDS-RCC	M	11.6	monosomy 7							SAMD9
P0417	c.1037_1046del	p.Gly346ValfsX38	frameshift_variant	Absent	PAT	Familial	2023	38067298	40664679	D 1144	MDS-RCC	F	12.1	normal (trisomy 8 in 2015)	Y	Y		Y	Y
P0418	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2025	40664679		D 1238	MDS-RCC	M	7.5	monosomy 7, add(tris8)
P0419	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	Familial	2020	32555368	38067298, 38993648, 40664679	D 1239 / Case 1	MDS-RCC	F	12.4	monosomy 7	Y			Y		Y
P0420	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	Familial	2020	32555368	40664679	sister of D 1239	B/NK-cell lymphopenia	F	10.7	NA	Y
P0421	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	Familial	2025	40664679		CCI: mother of P61 & P62	immunodeficiency, lung disease	F	48.0	normal	Y	Y	Y			Y
P0422	c.371del	p.Thr124SerfsX94	frameshift_variant	Absent	LPAT	NA	2025	40664679		D1246	MDS-EB	F	16.4	normal
P0423	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	NA	2023	38067298	40664679	D1302	MDS-EB	M	14.6	monosomy 7							ASXL1, ETV6, ETV6, PTPN11, SETBP1
P0424	c.303del	p.Ala103GlnfsX16	frameshift_variant	Absent	PAT	NA	2023	38067298	40664679	D1319	MDR-AML	F	16.3	monosomy 7, add(tris13)							GATA1, WT1
P0425	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2025	40664679		D1353	MDR-AML	F	9.8	monosomy 7
P0426	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	Familial	2025	40664679		D1370	MDS-RCC	F	17.4	trisomy 8		Y					STAG2, STAG2
P0427	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2023	38067298	40664679	D1372	MDS-RCC	F	9.9	normal		Y			Y		STAT3
P0428	c.1109G>T	p.Cys370Phe	missense_variant	Absent	VUS	NA	2023	38067298	38993648, 40664679	D1428 / Case 3	MDS-RCC	M	17.0	trisomy 8	Y	Y
P0429	c.341del	p.Asp114ThrfsX5	frameshift_variant	Absent	LPAT	NA	2023	38067298	40664679	D1443	MDS-RCC	M	9.9	monosomy 7		Y
P0430	whole gene deletion	whole gene deletion	transcript_ablation	Absent	PAT	NA	2025	40664679		D1483	MDS-RCC	F	18.3	trisomy 8	Y	Y					STAG2
P0431	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	NA	2025	40664679		D1500	MDS-RCC	M	16.1	normal
P0432	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2023	38067298	40664679	D1504	MDS-RCC	M	3.9	monosomy 7				Y	Y
P0433	c.416_417del	p.Ser139CysfsX45	frameshift_variant	Absent	PAT	NA	2023	38067298	40664679	D1521	MDS-EB/ MDR-AML	M	12.7	monosomy 7, add(t(5;12))						Y	CSF3R, SETBP1
P0434	c.1143+1G>A	p.?	splice_donor_variant	Absent	PAT	NA	2025	40664679		D1531	MDS-RCC	M	13.6	normal		Y
P0435	c.448G>T	p.Gly150X	stop_gained	Absent	PAT	Familial	2023	38067298	40664679	D1542	MDS-RCC/MDS-EB? (progress after 2 wks)	F	10.7	monosomy 7							ASXL1
P0436	c.448G>T	p.Gly150X	stop_gained	Absent	PAT	Familial	2025	40664679		D1543	MDS-RCC	M	6.9	normal
P0437	c.1055G>A	p.Cys352Tyr	missense_variant	Absent	LPAT	NA	2025	40664679		D1554	MDS/MPN	F	4.7	monosomy 7							ASXL1, KRAS, RUNX1, SETBP1
P0438	c.1243G>A	p.Glu415Lys	missense_variant	Absent	VUS	NA	2016	26702063	34469508, 40664679	DK014 (old SC021)	MDS-RAEB (MDR-AML)	F	13.7	trisomy 8				Y			KRAS, NRAS, PHF6
P0439	c.956_962del	p.Cys319SerfsX5	frameshift_variant	Absent	PAT	Familial	2025	40664679		DK099	MDS-EB	F	10.9	monosomy 7
P0440	c.802G>T	p.Gly268X	stop_gained	Absent	PAT	Familial	2016	26702063	40664679	I112	MDS-RAEB	F	17.1	trisomy 8
P0441	c.1018-2A>T	p.?	splice_acceptor_variant	Absent	PAT	NA	2016	26702063	40664679	I126	MDS-RCC (RAEB)	F	5.1	monosomy 7							ASXL1, SETBP1
P0442	c.970_994dup	p.Leu332GlufsX60	frameshift_variant	Absent	PAT	Familial	2016	26702063	40664679	I198	MDS-RCC	M	18.6	monosomy 7							ASXL1, EZH2
P0443	c.1124del	p.Leu375ProfsX12	frameshift_variant	Absent	PAT	De novo	2016	26702063	40664679	I199	MDS-RAEBt	M	7.8	monosomy 7	Y				Y		ASXL1, IKZF1, PHF6
P0444	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	NA	2016	26702063	40664679	I301	MDS-EB	M	10.7	monosomy 7	Y	Y		Y			SETBP1
P0445	c.161C>A	p.Ser54X	stop_gained	Absent	PAT	NA	2016	26702063	38067298, 40664679	I305	MDS-RAEBt, AML	M	18.1	monosomy 7
P0446	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2016	26702063	38067298, 40664679	I306	MDS-RCC	M	14.3	normal
P0447	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	De novo	2023	38067298	40664679	I309	MDS-RCC	M	17.3	normal	Y	Y					STAG2
P0448	c.414_417del	p.Ser139CysfsX78	frameshift_variant	Absent	PAT	De novo	2016	29906059	40664679, 38067298, 37837580	I312 / Patient 1 (P14)	MDS-RCC, Emberger-syndrome	M	10.9	trisomy 1	Y	Y		Y
P0449	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2025	40664679		I359	MDS-RCC	F	15.9	normal					Y		SETBP1
P0450	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2025	40664679		I390	MDS-EB	F	16.4	monosomy 7		Y					ASXL1, CSF3R, RUNX1, SETBP1
P0451	c.1215G>T	p.Lys405Asn	missense_variant	Absent	VUS	Familial	2023	38067298	40664679	I391	MDS-RCC	M	8.2	normal		Y				Y
P0452	c.380_383dup	p.Ser129ProfsX57	frameshift_variant	Absent	LPAT	NA	2023	37837580	40664679, 39976744	I392 / 2	MDS-RCC	F	18.3	normal	Y	Y					ASXL1
P0453	c.1341C>A	p.Ser447Arg	missense_variant	Absent	PAT	NA	2016	26702063	40664679	NL097	MDS-RCC/RAEB-t	M	12.9	monosomy 7							ASXL1, BCOR, EZH2
P0454	c.1168A>G	p.Lys390Glu	missense_variant	Absent	VUS	NA	2016	26702063	34469508, 40664679	NL113	MDS-RAEB	F	12.8	der(1;7), trisomy 8							HOXA9, RAD21, PTEN, STAG2
P0455	c.1069A>G	p.Thr357Ala	missense_variant	Absent	LPAT	Familial	2016	26702063	34469508, 40664679	NL116	MDS-RAEB	F	15.3	der(1;7), trisomy 11							STAG2
P0456	c.1069A>G	p.Thr357Ala	missense_variant	Absent	LPAT	Familial	2016	26702063	40664679	NL134	MDS-RCC	F	15.3	trisomy 8							RUNX1
P0457	c.1069A>G	p.Thr357Ala	missense_variant	Absent	LPAT	Familial	2025	40664679		NL_6592	MDS-RCC	F	>18	trisomy 8
P0458	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	De novo	2025	40664679		NO024 (old SC177)	MDS-RCC	F	16.7	normal	Y	Y					STAG2
P0459	c.1098_1100del	p.Asp367del	inframe_deletion	Absent	LPAT	NA	2025	40664679		NO030 (old SC220)	MDS-RCC	F	14.7	monosomy 7, add(tris8)
P0460	c.1021_1024dup	p.Ala342GlyfsX43	frameshift_variant	Absent	PAT	De novo	2022	34893945	40664679	NO039 / Patient 13	MDS-RCC	M	11.9	monosomy 7		Y	Y			Y	ASXL1, SETBP1
P0461	c.1009C>T	p.Arg337X	stop_gained	Absent	PAT	De novo	2016	26702063	40664679	PL027	MDS-RCC	M	14.9	monosomy 7							SETBP1
P0462	c.58C>T	p.Gln20X	stop_gained	Absent	PAT	NA	2025	40664679		PL073	MDS-RCC	F	15.7	monosomy 7							NRAS, SETBP1
P0463	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	De novo	2016	26702063	40664679	SE053 (old SC152)	MDS-RAEB	F	12.2	monosomy 7						Y	ASXL1, CBL, SETBP1
P0464	c.348G>A	p.Trp116X	stop_gained	Absent	LPAT	NA	2025	40664679		SE075 (old SC216)	MDS-EB	M	7.2	monosomy 7		Y				Y	ETV6, EZH2, RUNX1, RUNX1
P0465	c.982C>T	p.Gln328X	stop_gained	Absent	PAT	NA	2025	40664679		No ID_2	MDS-RCC	F	8.9	monosomy 7							SETBP1, SETP1, WT1
P0466	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	Familial	2025	40664679		No ID_3	MDS-RCC	M	15.4	normal	Y	Y
P0468	c.1154C>T	p.Pro385Gln	missense_variant	Absent	LPAT	Familial	2025	40664679		father of No ID_6	B/NK-lymphopenia	M	46.5	NA	Y
P0469	c.1009C>T	p.Arg337X	stop_gained	Absent	PAT	NA	2025	40664679		No ID_7	MDS-EB	F	11.0	monosomy 7				Y
P0470	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	NA	2025	40664679		No ID_8	MDS-EB	F	15.1	monosomy 7
P0471	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2025	40664679		No ID_9	MDS-RCC	F	15.0	monosomy 7
P0472	c.1078T>C	p.Trp360Arg	missense_variant	Absent	PAT	NA	2025	40664679		No ID_10	MDS-EB	M	17.5	trisomy 8		Y		Y
P0473	c.1017+526_1017+540delinsA	p.=	regulatory_region_variant	Absent	VUS	De novo	2025	40664679		No ID_13	AML	F	16.2	normal	Y
P0474	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	De novo	2025	40664679		No ID_14	Immunodeficiency	F	11.2	normal	Y	Y
P0475	c.202del	p.Ala68ArgfsX12	frameshift_variant	Absent	LPAT	NA	2025	40664679		No ID_15	MDS-EB	M	13.2	monosomy 7		Y			Y		JAK3, PTPN11, NRAS
P0476	c.980G>C	p.Gly327Ala	missense_variant	Absent	VUS	NA	2025	40664679		No ID_21	MDR-AML	M	13.7	trisomy 8	Y				Y
P0477	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	De novo	2025	40664679		No ID_25	AUL/MDS	F	10.2	monosomy 7, add(+8)							GATA2
P0478	c.1084del	p.Arg362GlufsX25	frameshift_variant	Absent	PAT	NA	2025	40664679		No ID_28	MDS-EB	F	11.7	monosomy 7 (del7q?)		Y			Y		BRAF, NRAS, SETBP1
P0479	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	De novo	2025	40664679		No ID_32	MDS-EB	F	7.3	monosomy 7 +add (tris11, structural aberration 3p)
P0480	c.1018-2A>C	p.?	splice_acceptor_variant	Absent	PAT	NA	2025	40664679		No ID_34	MDS-RCC	F	8.1	monosomy 7/tris8	Y	Y				Y
P0481	c.1187G>T	p.Arg396Leu	missense_variant	Absent	PAT	Familial	2023	36815365	40664679	816 / P7	MDS-MLD	M	30.0	NA	Y	Y				Y	STAG2, ELANE
P0482	c.1187G>T	p.Arg396Leu	missense_variant	Absent	PAT	Familial	2023	36815365	40664679	NA / P20	MDS-RCC	M	14.0	NA	Y					Y
P0483	c.1187G>T	p.Arg396Leu	missense_variant	Absent	PAT	Familial	2023	36815365	40664679	3419 / P8	SLE-like syndrome, immunodeficiency	F	15.0	NA	Y	Y				Y	ASXL1
P0484	c.1036_1037insTCTGGCC	p.Gly346SerfsX40	frameshift_variant	Absent	LPAT	NA	2023	36815365	40664679	6795 / P9	secondary HLH	M	24.0	NA	Y		Y				CSMD1
P0485	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	NA	2023	36815365	40664679	1010083 / P4	deduced MDS	F	37.0	NA	Y	Y				Y	STAG2, ATRX, TCF3, MSH2, SMC1A
P0486	c.1163T>C	p.Met388Thr	missense_variant	Absent	LPAT	Familial	2023	36815365	40664679	1700220 / P1	MDS-RCC	M	8.0	monosomy 7		Y
P0487	c.1132A>T	p.Lys378X	stop_gained	Absent	PAT	NA	2023	36815365	40664679	55101 / P3	Immunodeficiency with BM dysplasia (no MDS)	F	13.0	monosomy 7 + add (trisomy 8, del17p)
P0488	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2023	36815365	40664679	180138 / P2	MDS-MLD	M	18.0	normal	Y	Y		Y	Y
P0489	c.818del	p.Gly273AspfsX53	frameshift_variant	Absent	PAT	NA	2023	36815365	40664679	134938 / P5	MDS-MLD	F	51.0	normal	Y						KRAS, PIGA, JAK2
P0490	c.782G>C	p.Ser261Thr	missense_variant	Absent	VUS	NA	2023	36815365	40664679	131103 / P6	AML	F	75.0	trisomy 8	Y						CSMD1, RUNX1, IDH2, CBLB
P0491	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2016	26702063	40664679	16601834 / P11	MDS-MLD	M	45.0	monosomy 7	Y	Y					SETBP1
P0492	c.913C>G	p.Leu305Val	missense_variant	Absent	VUS	NA	2023	36815365	40664679	15414113 / P10	MDS-MLD	F	59.0	normal	Y	Y	Y			Y	SETBP1, EP300, SRSF2
P0493	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2016	26702063	40664679	15252685 / P12	MDS-MLD	M	32.0	trisomy 8	Y	Y	Y				STAG2
P0494	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2022	35273927	40664679	No ID_36 / 1	MDS <5%	F	14.9	normal	Y	Y
P0495	c.1033_1060del	p.Ala345ArgfsX33	frameshift_variant	Absent	LPAT	NA	2022	35273927	40664679	No ID_37 / 2	MDS <5%	F	10.1	normal	Y	Y			Y
P0496	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	NA	2022	35273927	40664679	No ID_38 / 3	MDS <5%	M	17.6	trisomy 8	Y
P0497	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	NA	2022	35273927	40664679	No ID_39 / 4	MDS <5%	F	2.8	monosomy 7				Y
P0498	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2022	35273927	40664679	No ID_40 / 5	MDS <5%	M	10.0	monosomy 7	Y	Y		Y
P0499	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2022	35273927	40664679	No ID_41 / 6	MDS <5%	M	8.7	monosomy 7	Y
P0500	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2022	35273927	40664679	No ID_42 / 7	MDS <5%	F	10.7	normal		Y
P0501	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2022	35273927	40664679	No ID_43 / 8	MDS <5%	M	7.8	monosomy 7		Y
P0502	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2022	35273927	40664679	No ID_44 / 9	MDS <5%	M	10.0	normal	Y	Y
P0503	c.1144-2A>C	p.?	splice_acceptor_variant	Absent	LPAT	NA	2022	35273927	40664679	No ID_45 / 10	MDS <5%	M	12.5	NA	Y	Y			Y
P0504	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	NA	2020	32555368	40664679	A2604 / P9 (UKA2604)	MDS-MLD	F	24.0	normal	Y	Y	Y
P0505	c.1046G>A	p.Cys349Tyr	missense_variant	Absent	PAT	Familial	2025	40664679		No ID_1	MDS-RCC	F	21.4	trisomy 8	Y	Y		Y
P0506	c.207_208del	p.Val70LeufsX114	frameshift_variant	Absent	PAT	NA	2025	40664679		No ID_19	Emberger-syndrome	M	40.3	normal				Y			ASXL1, GATA2, GATA2, STAG2
P0507	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2025	40664679		No ID_24	MDS	M	27.0	monosomy 7 (del7q?)
P0508	c.494A>G	p.His165Arg	missense_variant	Absent	VUS	NA	2025	40664679		No ID_16	MDS-EB	F	32.0	normal
P0509	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	NA	2025	40664679		No ID_18	MDS-MLD	F	18.2	monosomy 7 + add? (trisomy 8)
P0510	c.982C>T	p.Gln328X	stop_gained	Absent	PAT	NA	2025	40664679		CCI-1	MDS-MLD	M	23.9	monosomy 7	Y	Y	Y
P0511	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2025	40664679		CCI-2	MDS-MLD	M	24.7	normal	Y	Y			Y
P0512	c.1116_1117del	p.Cys373TrpfsX10	frameshift_variant	Absent	PAT	NA	2025	40664679		CCI-3	MDS >5% blasts	F	35.2	del(5q)	Y	Y					STAG2
P0513	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	NA	2025	40664679		CCI-4	neutropenia, hypocellular BM	F	36.0	trisomy 8	Y						DNMT3A, TP53
P0514	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	NA	2025	40664679		CCI-5	MDS-MLD	M	42.7	monosomy 7	Y	Y					STAG2
P0515	c.1180C>T	p.Gln394X	stop_gained	Absent	PAT	NA	2025	40664679		CCI-6	MDS-MLD	F	46.2	trisomy 8	Y	Y	Y	Y	Y		STAG2
P0516	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	NA	2025	40664679		CCI-7	MDS-MLD	F	38.0	normal	Y		Y	Y		Y	ASXL1
P0517	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2025	40664679		CCI-CZ1	MDS-MLD	F	18.8	del(5q)	Y	Y				Y
P0518	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	Familial	2025	40664679		CCI-CZ2	MDS-MLD	M	20.0	monosomy 7		Y				Y	ASXL1, CTCF, EZH2
P0519	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	Familial	2025	40664679		No ID_23 brother of CCI-CZ2	MDS-RCC	M	18.0	normal
P0520	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2025	40664679		father of CZ054	asymptomatic	M	NA	NA
P0521	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2025	40664679		father of CZ061	asymptomatic	M	NA	NA
P0522	c.1017+582G>T	p.=	regulatory_region_variant	Absent	VUS	Familial	2025	40664679		nephew of D 983	asymptomatic	M	NA	NA
P0523	c.1017+582G>T	p.=	regulatory_region_variant	Absent	VUS	Familial	2025	40664679		brother of D 983	asymptomatic	M	NA	NA
P0524	c.1017+582G>T	p.=	regulatory_region_variant	Absent	VUS	Familial	2025	40664679		father of D 983	asymptomatic	M	NA	NA
P0525	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2025	40664679		father of D 1372	asymptomatic	M	NA	NA
P0526	c.1215G>T	p.Lys405Asn	missense_variant	Absent	VUS	Familial	2025	40664679		mother of I 391	asymptomatic	F	NA	NA
P0527	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2025	40664679		mother of I 390	asymptomatic	F	NA	NA
P0528	c.1046G>A	p.Cys349Tyr	missense_variant	Absent	PAT	Familial	2025	40664679		father of No ID_1	asymptomatic	M	NA	NA
P0529	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	Familial	2025	40664679		father of CCI-CZ2	asymptomatic	M	NA	NA	Y
P0530	c.1051A>G	p.Asn351Asp	missense_variant	Absent	VUS	NA	2024	38290790		32-year-old Japanese woman	MDS-EB1	F	32	der(1;7)(q10;p10), trisomy 6, trisomy 8, trisomy 1, monosomy 17, +mar	Y	Y				Y
P0531	c.140_177delinsGCCTCCTCAATCACCTCGACTCGCAGGGCAACCCCTAG	p.Val47_Gly48delinsGlyLeuLeuAsnHisLeuAspSerGlyGlyAsnPro delinsGLL;Y59X	inframe_insertion	Absent	VUS	Familial	2018	29724903	36727400	P1* / 28	MDS	NA	22	trisomy 8		Y					STAG2, ASXL1, CEBPA, ETV6
P0532	c.229+13_229+14insGCCins203_229+13	p.?	splice_region_variant	Absent	VUS	Familial	2018	29724903		P2 (brother)	MDS	M	21	monosomy 7, trisomy 1, der(1;7)(q10;p10), del(20)(q12)		Y	Y
P0533	c.229+13_229+14insGCCins203_229+13	p.?	splice_region_variant	Absent	VUS	Familial	2018	29724903		P2 (sister)	MDS	F	18	monosomy 7 with complex
P0534	c.317_318del	p.Ser106CysfsX78	frameshift_variant	Absent	LPAT	NA	2018	29724903	36727400	P3* / 54	immunodeficiency, hematological malignancy	F	29	normal	Y		Y			Y	ASXL1, STAG2, STAG2
P0535	c.353del	p.Val118GlyfsX100	frameshift_variant	Absent	LPAT	NA	2018	29724903		P4*	MDS	NA	11	monosomy 7
P0536	c.423C>A	p.Tyr141X	stop_gained	Absent	PAT	NA	2018	29724903		P5*	MDS	NA	13	monosomy 7		Y
P0537	c.437del	p.Gly146ValfsX72	frameshift_variant	Absent	PAT	Familial	2018	29724903		P6 (father)	MDS	M	26	NA			Y
P0538	c.538G>T	p.Glu180X	stop_gained	Absent	LPAT	NA	2018	29724903		P7*	MDS	NA	20	normal		Y
P0539	c.610C>T	p.Arg204X	stop_gained	Absent	PAT	Familial	2013	23223431	29724903, 36727400, 39497062	P8* / 60	immunodeficiency, MDS, AML-M4, HLH	F	19	trisomy 1q, der9 t(1;9)(q12;q1 2), ring(9)(q12 ;q ?3 4), 11q23(2)	Y	Y	Y
P0540	c.670G>T	p.Glu224X	stop_gained	Absent	PAT	Familial	2013	23223431	29724903	P9*	MDS	NA	10	normal		Y
P0541	c.890A>G	p.Asn297Ser	missense_variant	Absent	VUS	NA	2018	29724903		P10*	MDS, AML-M0	NA	22	inversion 3
P0542	c.915_916del	p.Trp306AlafsX77	frameshift_variant	Absent	PAT	Familial	2018	29724903	36727400	P11* / 32	MDS	M	4	monosomy 7, +mar1, +mar2			Y				EZH2
P0543	c.937C>T	p.His313Tyr	missense_variant	6.759E-06	VUS	Familial	2018	29724903		P12*	MDS, undifferentiated leukemia	NA	21	deletion 5, deletion 7, add 10, deletion 12, monosomy 18, monosomy 21		Y
P0544	c.941_951del	p.Tyr314CysfsX66	frameshift_variant	Absent	PAT	Familial	2018	29724903		P13*	MDS	NA	18	monosomy 7		Y
P0545	c.944T>C	p.Leu315Phe	missense_variant	Absent	VUS	NA	2018	29724903	26710799	P14*/ 3 (5964)	symptomatic	NA	1	NA
P0546	c.1020_1029dup	p.Arg344GlyfsX43	frameshift_variant	Absent	PAT	NA	2018	29724903	36727400	P18* / 49	MDS, congenital malformations	F	23	normal				Y		Y	BCOR, STAG2
P0547	c.1023dup	p.Ala342ArgfsX42	frameshift_variant	Absent	LPAT	NA	2018	29724903	36727400	P20* / 58	immunodeficiency, hematological malignancy	F	18	normal		Y	Y	Y			STAG2
P0548	c.1045T>C	p.Cys349Arg	missense_variant	Absent	LPAT	De novo	2018	29724903		P21*	MDS	NA	20	der(3)t, dic(1;3)(p11; p25)	Y	Y	Y
P0549	c.1009C>T	p.Arg337X	stop_gained	Absent	PAT	De novo	2011	21892158	28747912	Emb-03 I-1 / Patient 1	MDS, AML	F	12	NA				Y
P0550	c.1019_1022del	p.Ala341ProfsX45	frameshift_variant	Absent	LPAT	NA	2011	21892158		Emb-04 I-1	MDS	M	11	NA				Y	Y
P0551	c.1018-3_1031del	p.Ala341ArgfsX38	frameshift_variant	Absent	LPAT	NA	2011	21892158		Emb-05 I-1	symptomatic	F	NA	NA	Y	Y			Y
P0552	c.1117T>C	p.Cys373Arg	missense_variant	Absent	LPAT	De novo	2011	21892158		Emb-06 I-1	MDS	M	16	NA		Y
P0553	c.1082G>C	p.Arg361Leu	missense_variant	Absent	LPAT	Familial	2011	21892158	37406166	Emb-07 I-1 / Family_52_2	MDS	M	10	NA	Y	Y		Y	Y		EP300, STAG2
P0554	c.579_580insA	p.Ala194SerfsX8	frameshift_variant	Absent	PAT	De novo	2011	21892158		Emb-08 I-1	AML	M	12	NA				Y
P0555	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	De novo	2016	27013649	28642594	UPN2	immunodeficiency, RCC	F	21	trisomy 8	Y	Y				Y
P0556	c.391_395del	p.?	frameshift_variant	Absent	PAT	De novo	2016	27013649		UPN3 RCC	MDS-RCC	NA	12	monosomy 7				Y	Y
P0557	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	De novo	2016	27013649		UPN9 RAEB/AML	MDS-RAEB, AML	NA	17	monosomy 7			Y
P0558	c.1066_1095del	p.Thr356_Asp365del	inframe_deletion	Absent	LPAT	De novo	2016	27013649		UPN10 RCC/RAEB-t	MDS-RCC/RAEBt	NA	16	monosomy 7
P0559	c.1035_1038dup	p.Thr347ArgfsX38	frameshift_variant	Absent	PAT	De novo	2016	27013649		UPN11 RAEB	MDS-RAEB	NA	4.4	monosomy 7		Y				Y
P0560	c.1128C>G	p.Tyr376X	stop_gained	Absent	PAT	De novo	2016	27013649		UPN12 ID/RCC	MDS-RCC	NA	13	normal				Y	Y
P0561	c.1114G>A	p.Ala372Thr	missense_variant	Absent	LPAT	NA	2014	24345756		10.I.1	symptomatic	NA	22	NA		Y				Y
P0562	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	NA	2014	24345756	28642594	5.I.1	MDS, DCML	NA	40	NA	Y	Y	Y
P0563	c.257_258del	p.Cys85fsX?	frameshift_variant	Absent	PAT	NA	2014	24345756		11.I.1	symptomatic	NA	8	monosomy 7	Y
P0564	c.1018-1G>A	p.? (r.340_381del)	splice_acceptor_variant	Absent	PAT	NA	2014	24345756		12.I.1	MDS	NA	22	NA		Y	Y			Y
P0565	c.735dup	p.Ile246HisfsX36	frameshift_variant	Absent	PAT	NA	2014	24345756		13.I.1	symptomatic	NA	19	NA		Y
P0566	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	NA	2014	24345756		15.I.1	MDS	F	4	NA	Y	Y
P0567	c.1081-3_1031del	p.Ala341fsX?	frameshift_variant	Absent	LPAT	NA	2014	24345756		16.I.1	symptomatic	NA	9	NA		Y		Y
P0568	c.989_992dup	p.Leu332ThrfsX53	frameshift_variant	Absent	LPAT	NA	2012	22147895	24227816	Patient 7	MDS, AML	M	14	monosomy 7, trisomy 8
P0569	c.1017+2T>G	p.?	splice_donor_variant	Absent	PAT	NA	2012	22147895		Patient 10	MDS, immunodeficiency	M	19	NA		Y
P0570	c.1060A>C	p.Thr354Pro	missense_variant	Absent	PAT	Familial	2018	29724903		P22*	MDS	NA	15	normal	Y	Y
P0571	c.1061C>G	p.Thr354Met	missense_variant	Absent	PAT	Familial	2018	29724903	39497062	P23*	MDS, HLH	F	21	hyerdiploid	Y	Y	Y
P0572	c.1070C>T	p.Thr357Ile	missense_variant	Absent	LPAT	NA	2018	29724903		P24*	MDS	F	25	normal	Y	Y
P0573	c.1076T>C	p.Leu359Ser	missense_variant	Absent	LPAT	Familial	2018	29724903	36727400	P25 (brother) / 46	MDS, AML-M2	M	61	normal							ASXL1, BCOR, BCORL1, JAK2, NF1, RUNX31, SF3B1, STAG2
P0574	c.1077_1082dup	p.Trp360_Arg361dup	inframe_insertion	Absent	LPAT	Familial	2018	29724903		P26*	MDS	F	37	trisomy 8		Y
P0575	c.1081C>G	p.Arg361Gly	missense_variant	Absent	LPAT	NA	2018	29724903		P27*	symptomatic	NA	23	NA			Y
P0576	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	NA	2018	29724903	36727400	P28* / 40	cytopenias, MDS	F	5	normal	Y	Y				Y	DNMT3A
P0577	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	NA	2018	29724903		P29*	MDS, AML	M	25	monosomy 7		Y	Y
P0578	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2018	29724903		P30*	MDS	F	8	del(20)(q11)		Y
P0579	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2018	29724903		P31*	MDS	M	21	normal		Y
P0580	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2018	29724903	36727400	P32* / 76	immunodeficiency, MDS	M	10	trisomy 8	Y		Y	Y		Y	STAG2
P0581	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2018	29724903	36727400	P33* / 26	MDS	M	11	normal	Y	Y		Y
P0582	c.1103_1104del	p.Pro368ArgfsX15	frameshift_variant	Absent	PAT	NA	2018	29724903		P35*	asymptomatic	NA	43	NA		Y
P0583	c.1114G>A	p.Ala372Thr	missense_variant	Absent	LPAT	Familial	2018	29724903		P37 (son)	CMML	M	42	trisomy 8
P0584	c.1114G>A	p.Ala372Thr	missense_variant	Absent	LPAT	NA	2018	29724903		P38*	AML-M2	NA	20	?der(7)?r(7)(?p ?q) [22] del7q		Y
P0585	c.1118G>A	p.Cys373Tyr	missense_variant	Absent	LPAT	NA	2018	29724903	36727400	P39* / 72	immunodeficiency, MDS	F	17	trisomy 1, monosomy 15	Y	Y		Y		Y	STAG2
P0586	c.1142del	p.Asn381MetfsX6	frameshift_variant	Absent	PAT	NA	2018	29724903	36727400, 39497062	P40* / 33	MDS, HLH	NA	14	normal	Y	Y					EZH2
P0587	c.1143+5G>C	p.?	splice_region_variant	Absent	LPAT	NA	2018	29724903		P41*	MDS	NA	11	trisomy 8		Y
P0588	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2018	29724903		P44*	MDS	NA	9	monosomy 7	Y
P0589	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	Familial	2018	29724903		P45 (mother)	MDS	F	25	NA
P0590	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	NA	2018	29724903		P47*	JMML	NA	0	normal						Y
P0591	c.1193G>A	p.Arg398Gln	missense_variant	Absent	PAT	NA	2018	29724903		P49*	MDS	NA	25	trisomy 8			Y
P0592	c.1-?_1443+?del	p.?	transcript_ablation	Absent	PAT	NA	2018	29724903		P50*	MDS	M	18	normal		Y
P0593	c.1-?_1443+?del	p.?	transcript_ablation	Absent	PAT	NA	2018	29724903		P51*	MDS	NA	13	monosomy 7, trisomy 8				Y
P0594	del3q21	del3q21	transcript_ablation	Absent	PAT	NA	2018	29724903		P52*	MDS, AML	NA	2	monosomy 7		Y
P0595	c.1-?_1443+?del	p.?	transcript_ablation	Absent	PAT	NA	2018	29724903		P53*	AML	NA	18	monosomy 7
P0596	c.1017+699insT	p.=	regulatory_region_variant	Absent	VUS	NA	2016	26702063		D506	MDS-RCC	M	13.5	NA
P0597	c.17_18del	p.Glu6AlafsX178	frameshift_variant	Absent	PAT	NA	2019	31340620		Patient ID#4	MDS-EB	M	5	monosomy 7
P0598	c.303del	p.Ala103GlnfsX16	frameshift_variant	Absent	PAT	NA	2019	31340620		Patient ID#11	MDS-EB	F	16	der(1;7)(q10;p10)
P0599	c.1019del	p.Ser340TrpfsX47	frameshift_variant	Absent	LPAT	NA	2019	31340620		Patient ID#6	MDS-RCC	M	8	monosomy 7
P0600	NA	p.Arg344LysfsX40	frameshift_variant	Absent	LPAT	NA	2019	31340620		Patient ID#5	MDS-EB	M	7	normal
P0601	c.1023_1038dup	p.Thr347ArgfsX42	frameshift_variant	Absent	LPAT	NA	2019	31340620		000	MDS-RCC	F	3	monosomy 7
P0602	c.77A>C	p.His26Pro	missense_variant	Absent	VUS	Familial	2013	23563236		index patient (brother)	AML	M	<14	NA
P0602	c.1055G>T	p.Cys352Phe	missense_variant	Absent	LPAT	NA	2019	31340620		Patient ID#7	AML	M	10	der(1;7)(q10;p10), trisomy1
P0603	c.77A>C	p.His26Pro	missense_variant	Absent	VUS	Familial	2013	23563236		index patient (grandmother)	AML	F	<74	NA
P0603	c.1124del	p.Leu375ProfsX12	frameshift_variant	Absent	PAT	NA	2019	31340620		Patient ID#9	MDS-EB	F	14	monosomy 7
P0604	c.77A>C	p.His26Pro	missense_variant	Absent	VUS	Familial	2013	23563236		index patient (uncle)	symptomatic	M	NA	NA				Y
P0604	c.1160C>A	p.Thr387Asn	missense_variant	6.762E-06	VUS	NA	2019	31340620		Patient ID#1	MDS-RCC	F	1	trisomy 8							SETBP1 , ASXL1 , RUNX1,
P0605	c.77A>C	p.His26Pro	missense_variant	Absent	VUS	Familial	2013	23563236		index patient (aunt)	hematological abnormality, immunodeficiency	F	42	NA			Y
P0605	c.1200_1216dup	p.Lys406SerfsX77	frameshift_variant	Absent	LPAT	NA	2019	31340620		Patient ID#8	MDS-EB	M	12	monosomy 7
P0606	c.77A>C	p.His26Pro	missense_variant	Absent	VUS	Familial	2013	23563236		index patient (cousin)	AML	NA	<21	NA
P0606	c.83del	p.Gly28AlafsX52	frameshift_variant	Absent	PAT	Familial	2013	23563236		index patient (brother)	AML	M	14	NA
P0607	c.83del	p.Gly28AlafsX52	frameshift_variant	Absent	PAT	Familial	2013	23563236		index patient (grandmother)	AML	F	74	NA
P0608	c.83del	p.Gly28AlafsX52	frameshift_variant	Absent	PAT	Familial	2013	23563236		index patient (uncle)	symptomatic	M	NA	NA				Y
P0609	c.83del	p.Gly28AlafsX52	frameshift_variant	Absent	PAT	Familial	2013	23563236		index patient (aunt)	hematological abnormality, immunodeficiency	F	42	NA			Y
P0610	c.83del	p.Gly28AlafsX52	frameshift_variant	Absent	PAT	Familial	2013	23563236		index patient (cousin)	AML	NA	21	NA
P0611	NA	NA	NA	NA	NA	NA	2014	24227816	20040766, 23502222	7.I.1	MDS, LGL	F	51	NA		Y	Y			Y
P0612	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	Familial	2018	30030275		Mother (pedigree II-1)	MDS	F	40	monosomy 7, trisomy 8
P0613	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	Familial	2018	30030275		Halfbrother 2 (pedigree III-3)	hematological abnormality	M	18	NA
P0614	c.404dup	p.Gly136ArgfsX49	frameshift_variant	Absent	LPAT	NA	2015	26716079		Patient 1	MDS-RA	F	35	normal	Y	Y					ASXL1 (R693*)
P0615	c.982C>T	p.Gln328X	stop_gained	Absent	PAT	NA	2021	33510405		HEL16	MDS-SLD	F	31	dic(1;15)(?;?)	Y		Y			Y
P0616	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2021	33510405		HEL13	MDS-MLD	F	19	normal	Y	Y
P0617	NA	NA	NA	NA	NA	Familial	2021	33510405		182	MDS-U	F	22	nuc ish (7q22)x1,(7q31)x1 [260/400]	Y
P0618	c.735dup	p.Ile246HisfsX36	frameshift_variant	Absent	PAT	NA	2018	29279357		14	MDS	F	20	NA	Y	Y
P0619	c.593del	p.Ala198GlyfsX20	frameshift_variant	Absent	PAT	NA	2019	30564229		Patient 4	hematological abnormality, immunodeficiency	NA	12	NA	Y
P0620	c.1172_1175del	p.Glu391GlyfsX85	frameshift_variant	Absent	PAT	NA	2019	30564229	39497062	Patient 1	hematological abnormality, immunodeficiency, HLH	F	8	NA	Y	Y
P0621	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	NA	2013	23443460		809605	MDS	NA	NA	NA
P0622	c.1281dup	p.Phe428LeufsX108	frameshift_variant	Absent	LPAT	NA	2013	23443460		01-13	MDS	NA	NA	NA							NRAS, BOD1L, CDH23, SETBP1, SF3A1, SF3B1
P0623	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	Familial	2021	33417088		H II.1 P9	MDS, immunodeficiency	F	NA	normal	Y	Y	Y
P0624	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	Familial	2021	33417088		H II.2 P10	MDS, immunodeficiency	F	NA	deletions, aneuploidy	Y	Y	Y
P0625	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	Familial	2021	33417088		L I.1 P14	symptomatic	F	NA	NA		Y	Y	Y
P0626	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	Familial	2021	33417088		L II.1 P15	MDS, immunodeficiency	M	NA	NA	Y	Y	Y	Y
P0627	c.915_916del	p.Trp306AlafsX77	frameshift_variant	Absent	PAT	NA	2021	33417088		C II.1 P3	immunodeficiency	M	NA	NA	Y	Y	Y		Y
P0628	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	De novo	2021	33417088		I II.1 P11	MDS, immunodeficiency	M	NA	der(15)(1qter->1q12::15p11->15qter)	Y		Y
P0629	c.1035_1036insTCTGGCC	p.Gly346SerfsX40	frameshift_variant	Absent	LPAT	NA	2021	33417088	39497062	K II.1 P13	MDS, immunodeficiency, HLH?	M	NA	NA	Y		Y		Y
P0630	c.1099dup	p.Asp367GlyfsX15	frameshift_variant	Absent	PAT	Familial	2021	33417088		N II.1 P17	immunodeficiency	F	NA	normal	Y		Y
P0631	c.1143+2T>A	p.?	splice_donor_variant	Absent	PAT	De novo	2021	33417088		O II.1 P18	MDS	F	NA	trisomy 8	Y		Y
P0632	c.1163T>C	p.Met388Thr	missense_variant	Absent	LPAT	Familial	2021	33417088		A II.1 P1	immunodeficiency	F	NA	NA	Y	Y	Y
P0633	c.1163T>C	p.Met388Thr	missense_variant	Absent	LPAT	Familial	2021	33417088		J II.2 P12	immunodeficiency	F	NA	NA	Y		Y		Y
P0634	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	Familial	2021	33417088		M II.1 P16	MDS	M	NA	NA	Y	Y	Y
P0635	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	De novo	2021	33417088		G II.1 P8	immunodeficiency	NA	NA	NA	Y		Y
P0636	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2021	33417088		B II.4 P2	immunodeficiency	F	NA	NA	Y	Y	Y	Y
P0637	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	Familial	2018	30030275		Halfbrother 1 (pedigree III-2)	symptomatic	M	NA	NA
P0638	c.1017+2T>G	p.?	splice_donor_variant	Absent	PAT	NA	2012	22147895		SAPATH #3	MDS	M	19	monosomy 7	Y	Y					SETBP1
P0639	c.1-200_871+527del	p.Met1del290	transcript_ablation	Absent	PAT	Familial	2012	22147895	20040766, 21670465	13.II.2	immunodeficiency	F	NA	NA		Y
P0640	c.1054del	p.Cys352ValfsX35	frameshift_variant	Absent	PAT	NA	2016	26767875		Patient	MDS-RCMD	F	20	normal	Y	Y			Y	Y
P0641	c.892dup	p.Cys298LeufsX86	frameshift_variant	Absent	PAT	Familial	2015	26022708		Family 1 - Patient 3	MDS	M	NA	trisomy 8							ASXL1, ATRX, BRCA2, GPRC5A, IDH2, NRAS, STAG2
P0642	c.1018-?	del ZF2 & C-terminus	transcript_ablation	Absent	PAT	Familial	2018	29680795		Patient 1	MDS, MonoMac	M	24	normal		Y	Y			Y
P0643	c.869C>A	p.Ser290X	stop_gained	Absent	LPAT	NA	2017	29230432		Patient 1	immunodeficiency	M	12	NA	Y						ASXL1
P0644	c.561dup	p.Thr188HisfsX14	frameshift_variant	Absent	LPAT	NA	2020	32088370		Patient ID#13	MDS-RCC	NA	16.8	normal
P0645	c.817_818del	p.Gly273ThrfsX8	frameshift_variant	Absent	PAT	NA	2020	32088370		Patient ID#1	MDS-RAEBt/AML	NA	15.4	monosomy 7
P0646	c.817_818del	p.Gly273ThrfsX8	frameshift_variant	Absent	PAT	NA	2020	32088370		Patient ID#6	MDS-RAEBt/AML	NA	13.5	monosomy 7, trisomy 8
P0647	c.818dup	p.Pro274ThrfsX8	frameshift_variant	Absent	LPAT	NA	2020	32088370		Patient ID#15	AML	NA	8.9	cytogenetic abnormalities
P0648	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2020	32088370		Patient ID#4	ALL	NA	12.3	monosomy 7, other cytogenetic abnormalities
P0649	c.1024_1026del	p.Ala342del	inframe_deletion	Absent	VUS	NA	2020	32088370		Patient ID#11	MDS-RAEBt/AML	NA	14	monosomy 7
P0650	c.1024_1026del	p.Ala342del	inframe_deletion	Absent	VUS	NA	2020	32088370		Patient ID#10	MDS-RAEBt/AML	NA	10	monosomy 7
P0651	c.1052A>G	p.Asn351Ser	missense_variant	Absent	VUS	NA	2020	32088370		Patient ID#12	MDS-RCC	NA	19.8	monosomy 7
P0652	c.1113C>A	p.Asn371Lys	missense_variant	Absent	PAT	NA	2020	32088370		Patient ID#5	MDS-RCC	NA	16	monosomy 7
P0653	c.1113C>A	p.Asn371Lys	missense_variant	Absent	PAT	NA	2020	32088370		Patient ID#9	MDS-RCC	NA	15	normal
P0654	c.1113del	p.Asn371LysfsX16	frameshift_variant	Absent	PAT	NA	2020	32088370		Patient ID#3	AML	NA	5.4	monosomy 7, trisomy 8
P0655	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2020	32088370		Patient ID#14	MDS-RCC	NA	15.8	normal
P0656	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2020	32088370		Patient ID#2	MDS-RCC	NA	14	trisomy 8
P0657	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2020	32088370		Patient ID#7	MDS-RCC	NA	15	trisomy 8
P0658	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2020	32088370		Patient ID#8	MDS-RCC	NA	18	monosomy 7, trisomy 8
P0659	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	NA	2020	33370941		Patient 1	immunodeficiency	F	9	NA	Y	Y		Y
P0660	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	NA	2015	25239263		FH-202	MDS	F	12	NA	Y
P0661	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2015	25239263		FH-154	MDS	F	17	NA
P0662	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2015	25239263		FH-82	MDS	F	16	NA
P0663	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	Familial	2017	28602958		PATIENT #12	GATA2 deficiency related bone marrow and immunodeficiency disorder	F	12.5	trisomy 8	Y	Y
P0664	c.1072_1074del	p.Thr358del	inframe_deletion	Absent	LPAT	NA	2017	28602958		PATIENT #13	GATA2 deficiency related bone marrow and immunodeficiency disorder	M	11.4	NA	Y	Y
P0665	c.1017+2T>C	p.? (r.Ser340AlafsX49)	splice_donor_variant	Absent	PAT	De novo	2018	29178327		Japanese man	MDS	M	33	NA	Y	Y		Y
P0666	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2018	28440875		Case 1	Emberger syndrome, MDS-LB	M	12	normal	Y	Y		Y
P0667	c.1020_1029dup	p.Arg344GlyfsX43	frameshift_variant	Absent	PAT	NA	2018	28440875	27799394	Case 2	MDS	F	28	normal	Y	Y		Y		Y
P0668	c.1060A>C	p.Thr354Pro	missense_variant	Absent	PAT	De novo	2018	28440875		Case 3	MDS	F	11	normal	Y			Y
P0669	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2016	27232273		Patient 1	B-ALL	F	11	complex karyotype with monosomy 7	Y	Y	Y
P0670	c.1143+5G>A	p.?	splice_region_variant	Absent	LPAT	Familial	2018	27577878	34893945	84.1 (monozygotic twins) / Patient 4	symptomatic	F	45	NA	Y	Y			Y	Y
P0671	c.1143+5G>A	p.?	splice_region_variant	Absent	LPAT	Familial	2018	27577878	34893945	84.4 (monozygotic twins) / Patient 5	MDS-MLD	F	39	normal	Y	Y			Y	Y
P0672	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	NA	2018	27577878	34893945	86.1 / Patient 7	MDS-MLD	F	23	trisomy 8		Y		Y		Y	STAG2
P0673	c.1078T>A	p.Trp360Arg	missense_variant	Absent	PAT	NA	2018	27577878	34893945	88.1 / Patient 6	MDS-MLD	M	26	trisomy 8	Y				Y	Y
P0674	c.1062_1064del	p.Thr358del	inframe_deletion	Absent	LPAT	Familial	2022	34893945		Patient 1 (father of P2 and P3)	hematological abnormality	M	44	normal		Y			Y
P0675	c.1062_1064del	p.Thr358del	inframe_deletion	Absent	LPAT	Familial	2022	34893945		Patient 2 (son of P1)	MDS-EB1	M	14	monosomy 7, trisomy 8		Y					U2AF1, GATA2
P0676	c.1062_1064del	p.Thr358del	inframe_deletion	Absent	LPAT	Familial	2022	34893945		Patient 3 (daughter of P1)	warts	F	9	normal		Y
P0677	c.1017+1G>T	p.?	splice_donor_variant	Absent	LPAT	NA	2022	34893945		Patient 8	symptomatic	F	53	normal				Y
P0678	c.163C>T	p.Gln55X	stop_gained	Absent	LPAT	NA	2022	34893945		Patient 9	AML-MRC	F	23	der(1;7)(q10;p10), trisomy 1	Y						RUNX1, CSF3R, PHF6, FBXW7
P0679	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	Familial	2022	34893945		Patient 10 (sibling to P11)	MDS-MLD	F	31	trisomy 6, trisomy 8, + 21? + 21		Y			Y		BCOR
P0680	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	Familial	2022	34893945		Patient 11 (sibling to P10)	MDS-MLD	M	34	trisomy 8, der(16)t(1;16)(q21;q24, +der(16)t(1;16), +21							ASXL1, STAG2
P0681	c.1098_1100del	p.Asp367del	inframe_deletion	Absent	LPAT	NA	2022	34893945		Patient 12	MDS-RCC	F	14	monosomy 7, trisomy 8					Y	Y
P0682	c.1114G>A	p.Ala372Thr	missense_variant	Absent	LPAT	NA	2022	34893945		Patient 14	MDS-SLD	F	31	normal					Y		STAG2
P0683	c.1339A>C	p.Ser447Arg	missense_variant	Absent	LPAT	NA	2019	31256854		Patient 44	hematological abnormality, immunodeficiency	M	NA	NA
P0684	c.1339A>C	p.Ser447Arg	missense_variant	Absent	LPAT	NA	2019	31256854		Patient 45	hematological abnormality	F	NA	NA
P0685	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2019	31256854		Patient 46	immunodeficiency	M	NA	NA	Y		Y
P0686	NA	NA	NA	NA	NA	NA	2019	31256854		Patient 47	hematological abnormality, immunodeficiency	M	NA	NA		Y					ASXL1
P0687	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	NA	2019	31256854		Patient 48	hematological abnormality, immunodeficiency	F	50	i(17)(q10)		Y
P0688	c.1339A>C	p.Ser447Arg	missense_variant	Absent	LPAT	NA	2019	31256854		Patient 49	inherited bone marrow failure, MDS	F	NA	NA							ASXL1
P0689	c.256del	p.Arg86AlafsX33	frameshift_variant	Absent	LPAT	NA	2019	31203817		76.1	MDS-RCMD	F	29	NA	Y	Y
P0690	c.1078T>A	p.Trp360Arg	missense_variant	Absent	PAT	NA	2017	28126493		Patient 1	hematological abnormality, immunodeficiency	F	25	NA	Y	Y
P0691	c.599del	p.Gly200ValfsX18	frameshift_variant	Absent	PAT	Familial	2023	36727400		1	hematological malignancy (spectrum 1)	M	16	normal		Y
P0692	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	De novo	2023	36727400		2	hematological malignancy (spectrum 1)	M	40	normal		Y	Y				ASXL1
P0693	c.257_258del	p.Cys85fsX?	frameshift_variant	Absent	PAT	De novo	2016	27481672	36727400	index patient / 3	immunodeficiency, MDS-RCC	M	8	monosomy 7	Y	Y
P0694	c.1018-1G>A	p.? (r.340_381del)	splice_acceptor_variant	Absent	PAT	De novo	2023	36727400		4	immunodeficiency, hematological malignancy	F	22	normal		Y					BCOR, STAG2, EZH2
P0695	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	De novo	2023	36727400		6	immunodeficiency, hematological malignancy	F	4	normal		Y		Y			STAG2, STAG2
P0696	c.1045T>G	p.Cys349Gly	missense_variant	Absent	LPAT	De novo	2023	36727400		7	hematological malignancy (spectrum 1)	F	18	normal		Y	Y	Y			STAG2, STAG2
P0697	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	De novo	2023	36727400		8	symptomatic	F	30	normal		Y	Y
P0698	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2023	36727400		9	hematological malignancy (spectrum 1)	M	17	trisomy 8
P0699	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2023	36727400		10	hematological malignancy (spectrum 1)	M	17	trisomy 8		Y
P0700	c.1114G>A	p.Ala372Thr	missense_variant	Absent	LPAT	Familial	2023	36727400		11	immunodeficiency, hematological malignancy	M	16	trisomy 8		Y
P0701	c.593del	p.Ala198GlyfsX20	frameshift_variant	Absent	PAT	De novo	2023	36727400		12	immunodeficiency, hematological malignancy	F	12	normal							ASXL1, STAG2, STAG2
P0702	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	De novo	2023	36727400		13	immunodeficiency, hematological malignancy	F	25	normal		Y					STAG2, STAG2, STAG2, STAG2
P0703	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2023	36727400		14	hematological malignancy (spectrum 1)	F	0.6	normal
P0704	c.1124T>G	p.Leu375Arg	missense_variant	Absent	LPAT	De novo	2023	36727400		15	immunodeficiency, hematological malignancy	M	21	normal		Y					EZH2, RUNX1, STAG2
P0705	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	NA	2023	36727400		16	cytopenia, hematological malignancy	F	48	der7 t(1;7)(q10;q10), monosomy 7						Y	ASXL1, RUNX1, STAG2
P0706	whole gene deletion	whole gene deletion	transcript_ablation	Absent	PAT	Familial	2023	36727400		17	immunodeficiency, hematological malignancy	F	17	normal							STAG2, ASXL1
P0707	c.1113C>A	p.Asn371Lys	missense_variant	Absent	PAT	Familial	2023	36727400		18	congenital malformations	M	22	normal						Y
P0708	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	Familial	2023	36727400		21	cytopenia	F	9	normal
P0709	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	Familial	2023	36727400		22	immunodeficiency, hematological malignancy	F	24	monosomy 7		Y					SETBP1
P0710	c.1115C>T	p.Ala372Val	missense_variant	Absent	LPAT	Familial	2023	36727400		23	asymptomatic	M	NA	normal
P0711	c.1115C>T	p.Ala372Val	missense_variant	Absent	LPAT	Familial	2023	36727400		24	immunodeficiency, hematological malignancy	F	17	trisomy 1, der(qter--q31:p11-->q21:q11-->qter)		Y					ASXL1, STAG2, STAG2
P0712	c.1115C>T	p.Ala372Val	missense_variant	Absent	LPAT	Familial	2023	36727400		25	cytopenia, hematological malignancy	F	13	monosomy 7
P0713	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	De novo	2023	36727400		27	hematological malignancy	M	26	monosomy 7, trisomy 8							STAG2
P0714	c.1073C>A	p.Thr358Asn	missense_variant	Absent	PAT	Familial	2023	36727400		29	hematological malignancy	M	25	monosomy 7
P0715	c.1073C>A	p.Thr358Asn	missense_variant	Absent	PAT	Familial	2023	36727400		30	asymptomatic	F	NA	normal
P0716	c.1073C>A	p.Thr358Asn	missense_variant	Absent	PAT	Familial	2023	36727400		31	immunodeficiency, hematological malignancy	M	21	trismomy 8, der(1;7)(q10;q10)		Y					STAG2, STAG2, STAG2, ASXL1, KMT2D
P0717	c.1046G>A	p.Cys349Tyr	missense_variant	Absent	PAT	De novo	2023	36727400		35	cytopenia, hematological malignancy	F	4	normal		Y		Y		Y	BCOR, RAD21, STAG2
P0718	c.1008del	p.Lys336AsnfsX51	frameshift_variant	Absent	LPAT	NA	2023	36727400		36	cytopenia, hematological malignancy	M	14	monosomy 7							JAK2, SETBP1, GATA1
P0719	c.1076T>C	p.Leu359Ser	missense_variant	Absent	LPAT	Familial	2023	36727400		39	cytopenia, hematological malignancy	M	46	del(5)(q15;q34)							ASXL1, ASXL1, RUNX1, STAG2
P0720	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	De novo	2023	36727400		41	hematological malignancy	M	22	monosomy 7, +mar(20)							GATA2, NRAS, NRAS, KRAS, KRAS, PTPN11, SETBP1, ASXL1, KIT, IKZF1, IKZF1, TYK2, MYC
P0721	c.1017+534_1017+537delinsCGGATAAGGACATTCCTATCCG	p.=	regulatory_region_variant	Absent	VUS	NA	2023	36727400		42	immunodeficiency, hematological malignancy	M	1	monosomy 7		Y					STAG2, STAG2, STAG2, STAG2, STAG2, STAG2, STAG2, STAG2
P0722	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2023	36727400		43	hematological malignancy (spectrum 2)	M	40	normal							STAG2, SETBP1
P0723	c.976_979dup	p.Gly327GlufsX58	frameshift_variant	Absent	PAT	Familial	2023	36727400		44	immunodeficiency, hematological malignancy	F	25	normal		Y					ASXL1, STAG2
P0724	c.1076T>C	p.Leu359Ser	missense_variant	Absent	LPAT	Familial	2023	36727400		47	immunodeficiency	F	37	NA
P0725	c.1114G>A	p.Ala372Thr	missense_variant	Absent	LPAT	NA	2023	36727400		48	immunodeficiency, hematological malignancy	M	28	normal			Y				STAG2, STAG2, STAG2, STAG2, STAG2, STAG2, STAG2
P0726	c.1084del	p.Arg362GlufsX25	frameshift_variant	Absent	PAT	De novo	2023	36727400		50	congenital malformations, hematological malignancy (spectrum 1)	F	0.9	normal						Y	STAG2
P0727	c.1045dup	p.Cys349LeufsX35	frameshift_variant	Absent	PAT	De novo	2023	36727400		53	hematological malignancy	M	10	monosomy 7							SETBP1, DHX15
P0728	c.728_729del	p.His243ProfsX38	frameshift_variant	Absent	LPAT	NA	2023	36727400		56	cytopenia, hematological malignancy	M	15	monosomy 7							STAG2
P0729	c.400_422delinsTGAGGGTGGGAG	p.Pro134fsX	frameshift_variant	Absent	PAT	Familial	2023	36727400		57	congenital malformations, hematological malignancy	F	6	trisomy 1, trisomy 8, der(1;7)(q10;p10)		Y		Y			DNMT3A, GATA2
P0730	c.194_195del	p.His65ArgfsX119	frameshift_variant	Absent	LPAT	NA	2023	36727400		59	immunodeficiency, hematological malignancy	M	6	monosomy 7
P0731	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	NA	2023	36727400		61	immunodeficiency, hematological malignancy	M	7	monosomy 7							SETBP1
P0732	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	De novo	2023	36727400		62	hematological malignancy (spectrum 2)	F	12	+X, trisomy 4, trisomy 8, trisomy 19							PTPN11
P0733	c.112C>T	p.Gln38X	stop_gained	Absent	PAT	NA	2023	36727400		67	congenital malformations, hematological malignancy (spectrum 2)	F	16	monosomy 9							TET2, TET2, TET2
P0734	exon 5 and 6 deletion	exon 5 and 6 deletion	transcript_ablation	Absent	PAT	De novo	2023	36727400		68	congenital malformations, hematological malignancy	M	4	monosomy 7							SETBP1, ASXL1
P0735	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2023	36727400		71	hematological malignancy	M	20	trisomy 8, monosomy 7, trisomy 1, der(1;7)
P0736	c.1118G>A	p.Cys373Tyr	missense_variant	Absent	LPAT	Familial	2023	36727400		73	congenital malformations	M	61	normal
P0737	c.1061dup	p.Thr355AspfsX29	frameshift_variant	Absent	PAT	De novo	2023	36727400		75	cytopenia, hematological malignancy	M	7	monosomy 7
P0738	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	Familial	2023	36727400		77	cytopenia	F	15	normal
P0739	c.367_370del	p.Lys123ArgfsX94	frameshift_variant	Absent	PAT	De novo	2023	36727400		78	immunodeficiency, hematological malignancy	M	5	der(1;7)(q10;p10), trisomy 8, trisomy 19							EZH2, GATA2
P0740	c.400_422delinsTGAGGGTGGGAG	p.Pro134fsX	frameshift_variant	Absent	PAT	Familial	2023	36727400		45	asymptomatic	M	NA	normal
P0742	c.710del	p.Gly237AlafsX89	frameshift_variant	Absent	PAT	De novo	2017	28747912	25955867	Patient 2	hematological abnormality, immunodeficiency	M	27	NA	Y	Y		Y
P0743	c.1132A>T	p.Lys378X	stop_gained	Absent	PAT	De novo	2017	28747912		Patient 3	hematological abnormality, immunodeficiency	F	8	trisomy 8, hyperdiploidity	Y			Y	Y	Y
P0744	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	NA	2020	32135276		Patient X	hematological abnormality, immunodeficiency	NA	NA	monosomy 7
P0745	c.1054T>C	p.Cys352Arg	missense_variant	Absent	LPAT	Familial	2017	28104920		#7	MDS/AML	NA	NA	NA
P0746	c.1081C>G	p.Arg361Gly	missense_variant	Absent	LPAT	Familial	2017	28104920		#8	MDS/AML	NA	NA	NA
P0747	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2017	28104920		#9	hematological abnormality, immunodeficiency	NA	NA	NA
P0748	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2017	28104920		#10	MDS/AML	NA	NA	NA
P0749	c.1045T>G	p.Cys349Gly	missense_variant	Absent	LPAT	NA	2018	29947977		Patient 1	MDS-MLD	F	17	normal	Y	Y	Y			Y
P0750	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	NA	2014	24578498		Patient J384	JMML-like MDS/MPN	M	4	monosomy 7							GATA2, KRAS
P0751	c.1009C>T	p.Arg337X	stop_gained	Absent	PAT	NA	2017	27894982		Patient 1	immunodeficiency, low grade MDS	F	24	NA	Y	Y	Y	Y		Y
P0752	c.1009C>T	p.Arg337X	stop_gained	Absent	PAT	NA	2021	33684095	39497062	Patient 1	HLH	F	22	NA	Y	Y			Y
P0753	exon 4 deletion	exon 4 deletion	transcript_ablation	Absent	PAT	Familial	2018	29365323		25	MDS	F	23	monosomy 7
P0754	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2015	26492932		1001-001	MDS-RCMD	F	15	normal							ASXL1
P0755	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2015	26492932		1001-004	MDS	F	25	NA
P0756	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2015	26492932		1001-005	MDS, AML	F	13	normal							SHROOM2, TUBA3C, HYDIN, STAG2
P0757	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2015	26492932		1001-006	MDS	F	13	NA
P0758	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2015	26492932	28642594	1002-001	MDS-RCMD	M	48	add(3)(q21),trisomy 8, del(12)(p11.2p13)							STAG2, EZH2, EZH2, CNTN5
P0759	monoallelic deletion	monoallelic deletion	transcript_ablation	Absent	PAT	De novo	2018	29620682		Patient 1	MDS	M	17	monosomy 7,+mar		Y		Y
P0760	c.1021_1031del	p.Ala341SerfsX39	frameshift_variant	Absent	PAT	Familial	2021	33957466		S1M	MDS	M	11	monosomy 7
P0761	c.1021_1031del	p.Ala341SerfsX39	frameshift_variant	Absent	PAT	Familial	2021	33957466		S2F	AML	F	13	monosomy 7
P0762	c.1021_1031del	p.Ala341SerfsX39	frameshift_variant	Absent	PAT	Familial	2021	33957466		S3F	MDS	F	16	monosomy 7, trisomy 8
P0763	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2015	25359990	34469508	51	MDS-RCMD	F	19	der(1;7)(q10;p10), trisomy 1, trisomy 8	Y
P0764	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2020	31710708		Patient 1	AML	F	13	NA	Y
P0765	c.1099del	p.Asp367ThrfsX20	frameshift_variant	Absent	PAT	NA	2020	31710708		Patient 3	MDS	M	22	NA	Y	Y
P0766	whole gene deletion	whole gene deletion	transcript_ablation	Absent	PAT	NA	2020	31710708		Patient 2	MDS	M	12	NA	Y	Y	Y
P0767	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	NA	2020	31350183	39497062	Patient 1	HLH	F	27	NA	Y	Y
P0768	c.1073C>A	p.Thr358Asn	missense_variant	Absent	PAT	Familial	2014	24754962	25676417, 40148527	Chicago Family	AML	F	50	NA						Y
P0768	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2011	21670465		Kindred 5	AML	M	19	NA		Y
P0769	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	NA	2016	27288520		AML_165	AML	NA	NA	NA							DNMT3A, NPM1, PTPN11, WAC
P0770	deletion 3q13.2-q21.3	deletion 3q13.2-q21.3	transcript_ablation	Absent	PAT	Familial	2015	25619630		Family 2 P1	hematological abnormality, immunodeficiency	F	0	NA	Y
P0771	deletion 3q21	deletion 3q21	transcript_ablation	Absent	PAT	Familial	2015	25619630		Family 3 P1	hematological abnormality, immunodeficiency	F	17	NA		Y
P0772	c.1075T>G	p.Leu359Val	missense_variant	Absent	LPAT	Familial	2014	24754962	25676417, 40148527	Chicago Family	AML	F	50	NA						Y
P0773	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	De novo	2019	30894283		Patient 1	immunodeficiency, Emberger syndrome	F	10	NA	Y	Y		Y	Y
P0774	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	De novo	2020	33363905		Patient II:2	MDS-MLD	M	17	normal	Y	Y		Y	Y
P0775	c.1113C>A	p.Asn371Lys	missense_variant	Absent	PAT	NA	2014	25326637		50	MDS, immunodeficiency 21, Emberger sy	NA	21	NA	Y			Y
P0776	c.1129T>G	p.Tyr377Asp	missense_variant	Absent	VUS	NA	2015	26264606		Case no. 2	hematological abnormality, immunodeficiency	M	34	NA	Y	Y	Y
P0777	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	NA	2015	26264606	28642594	Case no. 4	hematological abnormality, immunodeficiency	F	38	NA	Y	Y		Y		Y
P0778	c.1114G>A	p.Ala372Thr	missense_variant	Absent	LPAT	NA	2016	26710799		4 (6836)	MDS	F	66	NA	Y
P0779	c.1143+5G>C	p.?	splice_region_variant	Absent	LPAT	NA	2016	26710799		5 (6739)	immunodeficiency	F	NA	NA	Y
P0780	c.1143+200_1198del	p.Asn381fsX	frameshift_variant	Absent	PAT	De novo	2017	28373026		Man with WILD syndrome	hematological abnormality, immunodeficiency	M	17	normal				Y			ASXL1
P0781	c.1123C>T	p.Leu375Phe	missense_variant	Absent	LPAT	NA	2017	29146900		SJ040268	AML-MRC	F	5	trisomy 8, monosomy 7	Y
P0782	c.1126_1133dup	p.Lys378AsnfsX12	frameshift_variant	Absent	PAT	Familial	2021	33759087		Patient II-3	MDS-RCMD	M	35	normal					Y
P0783	c.1126_1133dup	p.Lys378AsnfsX12	frameshift_variant	Absent	PAT	Familial	2021	33759087		Patient III-1	MDS-RCMD	F	18	normal	Y	Y			Y
P0784	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2012	22430350	28642594	Japanese girl	MDS	F	19	NA	Y	Y		Y
P0785	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2015	25624456		Patient	hematological abnormality, immunodeficiency	F	40	normal	Y	Y
P0786	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	NA	2017	28209719		Patient 1	MDS	NA	60	NA	Y	Y				Y
P0787	c.803del	p.Gly268fsX?	frameshift_variant	Absent	PAT	NA	2017	28209719		Patient 2	hematological abnormality	NA	29	NA	Y	Y	Y			Y
P0788	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2017	28209719		Patient 3	MDS	NA	28	NA	Y	Y
P0789	c.1018-1G>T	p.?	splice_acceptor_variant	Absent	PAT	NA	2017	28209719		Patient 4	hematological abnormality	NA	18	NA	Y	Y				Y
P0790	c.1143+5G>A	p.?	splice_region_variant	Absent	LPAT	NA	2017	28209719		Patient 5	hematological abnormality	NA	21	NA	Y	Y				Y
P0791	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2017	28209719		Patient 6	MDS	NA	7	NA	Y		Y			Y
P0792	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2017	28209719		Patient 7	MDS	NA	18	NA	Y	Y	Y	Y		Y
P0793	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2017	28209719		Patient 8	MDS	NA	17	NA	Y	Y				Y
P0794	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	NA	2017	28209719		Patient 9	hematological abnormality	NA	NA	NA	Y
P0795	c.1193G>A	p.Arg398Gln	missense_variant	Absent	PAT	NA	2017	28209719		Patient 10	symptomatic	NA	29	NA
P0796	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2017	28209719		Asymptomatic carrier 1	asymptomatic	NA	61	NA
P0797	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2017	28209719		Asymptomatic carrier 2	asymptomatic	NA	52	NA	Y
P0798	c.1193G>A	p.Arg398Gln	missense_variant	Absent	PAT	NA	2017	28209719		Asymptomatic carrier 3	asymptomatic	NA	32	NA	Y
P0799	c.206_208delinsT	p.Arg69LeufsX115	frameshift_variant	Absent	PAT	De novo	2021	34387894		SAPATH #1	AML	NA	NA	NA
P0800	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	NA	2021	34387894		SAPATH #2	MDS	M	37	chromosome 1 translocation	Y		Y			Y
P0801	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2021	34387894		SAPATH #4	immunodeficiency	F	44	NA	Y	Y	Y
P0802	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2021	34387894		SAPATH #5	MDS	M	14	NA
P0803	c.1322_1325dup	p.His442GlnfsX95	frameshift_variant	Absent	LPAT	NA	2021	34387894		SAPATH #6	AML, t-MDS	NA	NA	NA
P0804	c.1018-?_1443+?del	del ZF2 & C-terminus	transcript_ablation	Absent	PAT	NA	2021	34387894		SAPATH #7	MDS	M	30	NA					Y
P0805	c.1113C>G	p.Asn371Lys	missense_variant	Absent	PAT	NA	2023	36357187		Patient 1	MDS	F	38	monosomy 7	Y
P0806	c.1083_1094del	p.Arg361del4ArgAsnAlaAsn	inframe_deletion	Absent	LPAT	NA	2023	36357187		Patient 2	MDS	M	25	NA	Y			Y
P0807	c.898dup	p.Ala300GfsX83	frameshift_variant	Absent	LPAT	NA	2023	36357187		Patient 5	MDS	F	34	NA	Y			Y
P0808	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2023	36357187		Patient 6	symptomatic	F	29	NA	Y			Y
P0809	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2023	36357187		Patient 7	MDS	F	32	trisomy 8	Y
P0810	c.1-276T>G	p.=	regulatory_region_variant	Absent	VUS	Familial	2013	23502222		33.III.3	asymptomatic	NA	9	NA	Y
P0810	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	NA	2023	36357187		Patient 8	symptomatic	M	22	NA	Y
P0811	c.715C>T	p.Gly239X	stop_gained	Absent	LPAT	NA	2023	36357187		Patient 9	MDS	M	36	NA	Y			Y
P0812	uniallelic expression of GATA2	uniallelic expression of GATA2	transcript_ablation	Absent	PAT	NA	2023	36357187		Patient 10	T-cell lymphoma	F	21	NA	Y
P0813	c.1168_1170del	p.390delLys	inframe_deletion	Absent	LPAT	Somatic mutation	2018	29669757		SOMATIC GATA2 MUTATION PATIENT	MPN/MDS	F	58	NA	Y					Y	ASXL1
P0814	c.1099insG	p.Asp367fsX	frameshift_variant	Absent	PAT	Familial	2013	23502222		33.III.3	asymptomatic	NA	9	NA	Y
P0815	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2023	37837580		1	cMDS-LB	M	14	normal	Y	Y	Y				EZH2
P0816	c.503_504insGCTC	p.His169LeufsX17	frameshift_variant	Absent	LPAT	NA	2023	37837580		3	cMDS-LB	F	16	normal	Y						ASXL1
P0817	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2023	37837580		4	cMDS-IB	F	17	monosomy 7	Y
P0818	c.1215G>T	p.Lys405Asn	missense_variant	Absent	VUS	NA	2023	37837580		5	GATA2 deficiency	M	3	normal	Y	Y
P0819	c.112C>T	p.Gln38X	stop_gained	Absent	PAT	NA	2023	37837580		6	GATA2 deficiency	M	15	NA	Y	Y
P0820	c.919C>T	p.Arg307Trp	missense_variant	Absent	VUS	NA	2023	37837580		7	GATA2 deficiency	M	17	NA	Y
P0821	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2023	37837580		8	GATA2 deficiency	M	5	NA	Y	Y
P0822	c.1079G>A	p.Trp360X	stop_gained	Absent	PAT	NA	2023	37837580		9	GATA2 deficiency	F	13	trisomy 8	Y	Y			Y
P0823	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2023	37837580		10	cMDS-IB	F	16	normal	Y				Y
P0824	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2023	37837580		11	cMDS-LB	M	17	normal	Y
P0825	c.1215G>T	p.Lys405Asn	missense_variant	Absent	VUS	NA	2023	37837580		12	cMDS-IB	M	12	normal	Y	Y
P0826	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2023	37837580		13	MDS-LB	F	20	trisomy 8	Y			Y
P0827	intron 4 deletion	intron 4 deletion	transcript_ablation	Absent	PAT	NA	2023	37837580		15	AML	F	14	normal	Y						MECOM
P0828	c.1084C>G	p.Arg362Gly	missense_variant	Absent	LPAT	NA	2023	37837580		16	AML	M	18	normal	Y
P0829	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2023	37837580		17	GATA2 deficiency	F	NA	normal	Y	Y				Y
P0830	c.1046G>A	p.Cys349Tyr	missense_variant	Absent	PAT	Familial	2023	37837580		18	cMDS-LB	F	12	trisomy 8	Y	Y		Y		Y
P0831	NA	NA	NA	NA	NA	NA	2023	37837580		19	AML	F	2	normal	Y
P0832	NA	NA	NA	NA	NA	Familial	2023	37837580		20	cMDS-IB	F	8	monosomy 7	Y	Y				Y
P0833	c.1057C>T	p.Gln353X	stop_gained	Absent	PAT	NA	2023	37837580		21	MDS-LB	F	39	trisomy 8	Y	Y	Y		Y	Y
P0834	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2023	37837580		22	GATA2 deficiency	F	45	normal	Y		Y
P0835	c.503_504insGCTC	p.His169LeufsX17	frameshift_variant	Absent	LPAT	NA	2023	37837580		23	asymptomatic	M	43	NA	Y
P0836	c.1215G>T	p.Lys405Asn	missense_variant	Absent	VUS	Familial	2023	37837580		24	asymptomatic	F	45	NA	Y
P0837	c.1046G>A	p.Cys349Tyr	missense_variant	Absent	PAT	Familial	2023	37837580		25	asymptomatic	M	54	NA	Y
P0838	c.1009C>T	p.Arg337X	stop_gained	Absent	PAT	Familial	2023	37837580		26	cMDS-LB	F	11	monosomy 7	Y			Y
P0839	c.1150A>G	p.Arg384Gly	missense_variant	Absent	LPAT	NA	2023	37837580		27	AML	F	19	monosomy 7	Y			Y
P0840	c.372_373insT	p.Pro125SerfsX60	frameshift_variant	Absent	LPAT	NA	2023	37837580	39015540	28	MDS-IB, AML	M	52	trisomy 8	Y	Y	Y				ASXL1, EZH2, RUNX1
P0841	c.1009C>T	p.Arg337X	stop_gained	Absent	PAT	Familial	2023	37837580		29	MDS-LB	F	36	trisomy 8	Y	Y		Y
P0842	c.1009C>T	p.Arg337X	stop_gained	Absent	PAT	Familial	2023	37837580		30	cMDS-LB	F	9	monosomy 7	Y	Y
P0843	c.257_258del	p.Cys85fsX?	frameshift_variant	Absent	PAT	NA	2023	37837580		31	cMDS-LB	M	9	monosomy 7	Y	Y
P0844	c.649C>T	p.Leu217Leu	synonymous_variant	1.352E-05	VUS	NA	2020	32555368		P4 (LT)	MDS-RCC	M	3	monosomy 7
P0845	c.950A>G	p.Asn317Ser	missense_variant	Absent	VUS	NA	2021	33560389		MPN patient	PMF	F	38	t(3;12)(p21;p13)		Y					JAK2 V617F
P0846	c.121C>G	p.Pro41Ala	missense_variant	0.0005068	VUS	NA	2018	29365323		35	hypereosinophilia (spectrum 1)	M	NA	NA
P0847	c.121C>G	p.Pro41Ala	missense_variant	0.0005068	VUS	NA	2018	29797310		14	hematological abnormality, immunodeficiency	F	NA	NA	Y	Y
P0848	c.1024G>A	p.Ala342Thr	missense_variant	2.704E-05	VUS	NA	2014	24033149		Pt2	AML-M0	F	7	NA							NRAS (VUS)
P0849	c.1086_1087ins63	p.Asn363delins22	inframe_insertion	Absent	VUS	NA	2019	31340620		Patient ID#10	AML	M	14	monosomy 7							GATA2 (VUS)
P0850	c.1143+8C>T	p.?	splice_region_variant	2.703E-05	VUS	NA	2021	33715335		Patient 1	AML, MDS	F	21	NA		Y		Y
P0851	c.1286G>C	p.Ser429Thr	missense_variant	3.379E-05	VUS	NA	2019	31340620		Patient ID#3	MDS-RCC	M	3	normal
P0852	c.610C>T	p.Arg204X	stop_gained	Absent	PAT	Familial	2021	33410496	39497062	Chinese Han woman	HLH	F	17	NA	Y	Y		Y		Y
P0853	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	Familial	2018	29412158		MRD 1	MDS	M	24	normal		Y	Y
P0854	c.1123delinsCT	p.Leu375Ser	inframe_insertion	Absent	VUS	NA	2018	29412158		URD 3	AML	F	25	trisomy 8, trisomy 20	Y
P0855	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2018	29412158		URD 6	MDS	M	21	monosomy 7		Y	Y
P0856	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2018	29412158		URD 10	MDS	F	28	normal		Y	Y
P0857	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2018	29412158		URD 13	MDS	M	30	monosomy 7		Y
P0858	c.1009C>T	p.Arg337X	stop_gained	Absent	PAT	NA	2018	29412158		Haplo 1	MDS, Emberger-syndrome	F	45	normal		Y		Y
P0859	c.1021del	p.Ala341ProfsX46	frameshift_variant	Absent	PAT	NA	2018	29412158		Haplo 4	MDS	M	26	normal		Y
P0860	c.803del	p.Gly268fsX?	frameshift_variant	Absent	PAT	NA	2018	29412158		Haplo 5	MDS	F	34	normal		Y	Y
P0861	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2018	29412158		Haplo 6	MDS	F	16	normal		Y
P0862	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2018	29412158	39497062	Haplo 7	MDS, HLH	F	17	trisomy 8	Y	Y
P0863	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2023	36740376		index case	MonoMAC	M	28	normal	Y		Y			Y
P0864	c.445G>A	p.Gly149Arg	missense_variant	8.112E-05	VUS	NA	2023	36815365		P13	MDS-EB2	M	55	normal	Y
P0864	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2022	36726998		index case	SCID, GATA2 deficiency, donor-derived Ph+ ALL	F	0	normal	Y
P0865	c.1009C>T	p.Arg337X	stop_gained	Absent	PAT	Familial	2023	37799757		index case	MDS-AML	F	9	monosomy 7		Y
P0866	GATA2 haploinsufficiency	GATA2 haploinsufficiency	transcript_ablation	Absent	PAT	NA	2022	34793614		index case	MDS, immunodeficiency	M	56	NA	Y
P0867	c.1047T>G	p.Cys349Trp	missense_variant	Absent	LPAT	Familial	2022	35983050		index case	BCP-ALL, GATA2 deficiency	F	4	NA	Y
P0868	c.1073C>T	p.Thr358Ile	missense_variant	Absent	LPAT	NA	2023	36815365		P13	MDS-EB2	M	55	normal	Y
P0869	c.1156_1157insAC	p.Leu386HisfsX2	frameshift_variant	Absent	PAT	NA	2023	36815365		P14	MDS	F	29	normal	Y						STAG2, ASXL1
P0870	c.1035_1036insTCGGCGGCC	p.Gly346insSerAlaAla	inframe_insertion	Absent	VUS	NA	2023	36815365		P15	MDS	F	34	normal	Y						STAG2, ASXL1
P0871	c.1163T>C	p.Met388Thr	missense_variant	Absent	LPAT	Familial	2023	36815365		P16	GATA2 deficiency, deafness	M	40	normal					Y
P0872	c.1163T>C	p.Met388Thr	missense_variant	Absent	LPAT	Familial	2023	36815365		P17	asymptomatic	M	75	normal
P0873	c.1163T>C	p.Met388Thr	missense_variant	Absent	LPAT	Familial	2023	36815365		P18	AML	F	39	normal	Y
P0874	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Absent	PAT	NA	2023	36815365		P19	asymptomatic	M	49	normal	Y
P0875	c.1124T>A	p.Leu375His	missense_variant	Absent	LPAT	NA	2025	40664679		A154	MDS-EB	M	12.7	normal
P0876	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2025	40664679		A175	MDS-RCC	M	10.2	trisomy 8
P0877	c.1114G>A	p.Ala372Thr	missense_variant	Absent	LPAT	NA	2025	40664679		A161	MDS-EB	M	12.4	normal
P0879	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	NA	2025	40664679		D1595	MDS-EB	F	7.3	monosomy 7 + add
P0880	c.1125_1126insG	p.Tyr376ValfsX8	frameshift_variant	Absent	PAT	NA	2025	40664679		D1621	MDS-EB	M	13.2	monosomy 7							ASXL1, ASXL1, SETBP1
P0881	c.818del	p.Gly273AspfsX53	frameshift_variant	Absent	PAT	NA	2025	40664679		D1630	MDS-RCC	M	16.0	monosomy 7
P0882	c.1017+2T>C	p.? (r.Ser340AlafsX49)	splice_donor_variant	Absent	PAT	NA	2025	40664679		D1631	MDR-AML	M	12.9	monosomy 7 + add
P0883	c.1114G>A	p.Ala372Thr	missense_variant	Absent	LPAT	NA	2024	38993648	40664679	D1637 / Case 5	AML	M	7.7	monosomy 7	Y					Y	CUX1, IKZF1
P0884	c.161C>A	p.Ser54X	stop_gained	Absent	PAT	NA	2025	40664679		D1651	MDS-RCC	M	13.9	monosomy 7
P0885	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2025	40664679		D1660	MDS-RCC	M	4.0	normal
P0886	c.229+1dup	p.?	splice_donor_variant	Absent	LPAT	NA	2024	38993648	40664679	D1663 / Case 2	MDS/MPS	F	16.2	monosomy 7							ASXL1, ASXL1, SETBP1, WT1
P0887	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	NA	2025	40664679		D1676	MDS-RCC	M	1.7	normal
P0888	c.1113C>A	p.Asn371Lys	missense_variant	Absent	PAT	NA	2025	40664679		D1685	MDS-RCC	F	14.5	normal
P0889	c.449dup	p.Gly151ArgfsX34	frameshift_variant	Absent	LPAT	NA	2025	40664679		D1686	MDS-EB	M	8.6	monosomy 7							STAG2
P0890	c.1312G>T	p.Ala438Ser	missense_variant	1.352E-05	VUS	Familial	2025	40664679		D1689	MDS-RCC	M	8.8	normal
P0891	c.1312G>T	p.Ala438Ser	missense_variant	1.352E-05	VUS	Familial	2025	40664679		20996	GATA2 deficiency	M	41.0	NA
P0892	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	NA	2025	40664679		DK106	MDS-RCC	F	8.0	monosomy 7
P0893	c.1402G>A	p.Gly468Ser	missense_variant	1.353E-05	VUS	NA	2025	40664679		GR025	MDS-RCC	M	7.8	normal
P0894	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	NA	2024	38993648	40664679	20367 / Case 4	GATA2 deficiency	F	23.8	normal							ASXL1
P0895	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2025	40664679		20845	GATA2 deficiency	F	6.8	normal
P0896	c.1129_1131dup	p.Tyr377dup	inframe_insertion	Absent	VUS	NA	2025	40664679		20864	MDS-EB	M	10.3	normal
P0897	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	NA	2025	40664679		20658	MDS-EB	F	11.5	monosomy 7							GATA2, GATA2
P0898	c.1080G>A	p.Trp360X	stop_gained	Absent	PAT	NA	2025	40664679		20375	MDS-EB	M	10.5	monosomy 7							ASXL1, EZH2, SETBP1
P0900	c.177C>A	p.Tyr59X	stop_gained	Absent	PAT	Familial	2025	40664679		19221	MDS	F	7.2	monosomy 7							EZH2, RUNX1, RUNX1, SETBP1
P0901	c.177C>A	p.Tyr59X	stop_gained	Absent	PAT	Familial	2025	40664679		19222	GATA2 deficiency	F	34.2	NA
P0902	c.1114G>A	p.Ala372Thr	missense_variant	Absent	LPAT	NA	2025	40664679		20205	MDS-RCC	F	24.5	NA
P0903	exon 4 deletion	exon 4 deletion	transcript_ablation	Absent	PAT	Familial	2023	37406166		Family_0666.001	MDS	F	23	monosomy 7
P0904	c.857C>T	p.Ala286Val	frameshift_variant	Absent	PAT	Familial	2017	28104920	29365323, 37406166	sister of 30 / Family_0148.001	MDS	F	43	NA							STAG2, STAG2
P0905	c.630_643del	p.Lys212ThrfsX?	frameshift_variant	Absent	PAT	Familial	2023	37406166		Family_00B4.044	MDS-EB1	F	16	NA							KRAS, ASXL1
P0906	c.1082G>C	p.Arg361Leu	missense_variant	Absent	LPAT	Familial	2023	37406166		relative of Emb-07 I-1 / Family_52_4	MDS	NA	NA	NA							HOXA11
P0907	c.1082G>C	p.Arg361Leu	missense_variant	Absent	LPAT	Familial	2023	37406166		relative of Emb-07 I-1 / Family_52_5	MDS	NA	NA	NA
P0908	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2015	26492932		1001-003	asymptomatic	M	58	NA
P0909	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2023	37406166		Family_53_1	asymptomatic	F	73	NA
P0910	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2023	37406166		Family_53_2	NA	M	47	NA
P0911	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2023	37406166		Family_53_3	asymptomatic	M	44	NA							DNMT3A
P0912	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2023	37406166		Family_53_5	asymptomatic	F	NA	NA
P0913	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2023	37406166		Family_53_7	MDS	NA	20	NA
P0914	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2023	37406166		Family_53_8	hematological abnormality	F	16.5	NA							KDM5A
P0915	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Absent	PAT	NA	2024	38317027		Case 10	GATA2 deficiency, hematological abnormality	M	30	NA	Y		Y			Y
P0916	c.1009C>T	p.Arg337X	stop_gained	Absent	PAT	Familial	2024	38205536		family #15 sibling 1 33	AML-M4	NA	NA	NA
P0917	c.1009C>T	p.Arg337X	stop_gained	Absent	PAT	Familial	2024	38205536		family #15 sibling 2 269	AML-M7	NA	NA	NA
P0918	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	NA	2023	38137719		A15	MDS	M	22	trisomy 8		Y
P0919	c.1168_1170del	p.390delLys	inframe_deletion	Absent	LPAT	NA	2023	38137719		A19	MDS-IB2, AML	M	27	normal							SF3B1, U2AF1
P0920	c.423_426del	p.Tyr141fsX?	frameshift_variant	Absent	LPAT	NA	2023	38137719		A20	MDS-IB1	M	28	trisomy 1, der(1;7)(q10;p10), trisomy 3, trisomy 8, trisomy 9, trisomy 19							STAG2
P0921	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Absent	PAT	NA	2023	37970879		CASE REPORT 1	immunodeficiency	M	37	NA	Y
P0922	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	Somatic mutation	2024	37802913		SOMATIC GATA2 MUTATION PATIENT / 44-year-old woman	DCML	F	44	NA	Y					Y
P0923	c.599dup	p.Ser201X	frameshift_variant	Absent	PAT	NA	2023	37680631	39497062	Chinese Han man	HLH, hematological abnormality	M	28	NA	Y		Y
P0924	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	NA	2024	37641896		Japanese woman	GATA2 deficiency	F	55.0	NA	Y	Y			Y
P0925	-110 region enhancer A>T	-110 region enhancer A>T	regulatory_region_variant	Absent	VUS	Familial	2023	37595058		second cousin 1	MDS-RCC	F	38.0	trisomy 8	Y	Y
P0926	-110 region enhancer A>T	-110 region enhancer A>T	regulatory_region_variant	Absent	VUS	Familial	2023	37595058		second cousin 2	aplastic anemia	M	34.0	trisomy 8	Y
P0927	c.1045T>A	p.Cys349Ser	missense_variant	Absent	LPAT	NA	2023	38067298		I377	MDS-RCC	NA	NA	NA
P0928	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Absent	PAT	NA	2023	37727920		Patient 3	secondary HLH, monoMAC	F	18	NA	Y		Y			Y
P0930	c.783_787dup	p.Gly263AlafsX65	frameshift_variant	Absent	LPAT	NA	2025	40664679		BOS-02	MDS w/ Monosomy 7	M	14.5	monosomy 7	Y						STAG2, RAD21 (VUS), SMC1A (VUS)
P0932	c.437del	p.Gly146ValfsX72	frameshift_variant	Absent	PAT	NA	2025	40664679		BOS-04	Monosomy 7 MDS-EB1	F	8.1	monosomy 7, trisomy 21	Y	Y					WT1, GATA2, ETV6 (VUS)
P0934	c.988C>T	p.Arg330X	stop_gained	Absent	PAT	NA	2025	40664679		BOS-06	GATA2 deficiency, monoMAC	F	19	normal	Y	Y	Y				STAG2, CTNNB1 (VUS), SH2B3 (VUS)
P0935	c.610C>T	p.Arg204X	stop_gained	Absent	PAT	NA	2025	40664679		BOS-07	Monosomy 7 AML	M	5.5	monosomy 7	Y						JAK2, CSF3R, KRAS, WT1, WT1
P0936	c.610C>T	p.Arg204X	stop_gained	Absent	PAT	NA	2025	40664679		BOS-08	cytopenia	M	2	normal	Y				Y
P0937	c.128_153del	p.Asp43AlafsX133	frameshift_variant	Absent	LPAT	NA	2025	40664679		BOS-09	MDS w/ Monosomy 7	F	11	monosomy 7	Y	Y		Y			ASXL1, GATA2, NRAS, NRAS, PTPN11, SETBP1, CUX1 (VUS), SP3A1 (VUS)
P0938	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	NA	2025	40664679		BOS-10	GATA2 deficiency	F	16	NA	Y	Y
P0941	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	NA	2025	40664679		BOS-13	GATA2 deficiency	F	17.5	low-level monosomy 7
P0942	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	NA	2025	40664679		BOS-14	MDS/AML	F	47	trisomy 8	Y
P0943	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	NA	2025	40664679		BOS-15	5q- MDS	F	10	5q31 deletion							CEBPA
P0946	c.405_409delinsGTA	p.Gly136TyrfsX48	frameshift_variant	Absent	PAT	Familial	2025	40664679		SJG2001	MDS	F	9.0	normal	Y			Y
P0947	c.1096G>A	p.Gly366Arg	missense_variant	6.758E-06	VUS	Familial	2025	40664679		SJG2002	warts	M	32.0	NA	Y	Y
P0948	c.1096G>A	p.Gly366Arg	missense_variant	6.758E-06	VUS	Familial	2025	40664679		SJG2003	severe neutropenia	M	1.5	normal
P0949	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	Familial	2025	40664679		SJG2004	MDS	M	7.0	trisomy 8	Y	Y
P0950	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	Familial	2025	40664679		SJG2005	cytopenia, immunodeficiency	M	16.0	normal	Y	Y			Y
P0952	c.1078T>A	p.Trp360Arg	missense_variant	Absent	PAT	Familial	2025	40664679		SJG2007	MDS, AML	M	10.0	monosomy 7, trisomy 8	Y	Y		Y			ASXL1, BCOR, GATA2, KRAS, NRAS, RUNX1, SMC1A, CDKN1C
P0953	c.569del	p.Ala190ValfsX28	frameshift_variant	Absent	LPAT	NA	2025	40664679	34469508	SJG2008 / P15	MDS-EB, AML-MRC	F	15.0	trisomy 1, der(1;7)(q10;p10), trisomy 8	Y	Y					SETBP1, MYB, EZH2
P0954	c.437del	p.Gly146ValfsX72	frameshift_variant	Absent	PAT	NA	2025	40664679		SJG2009	MDS, AML	F	8.0	monosomy 7	Y
P0955	c.1018-1G>T	p.?	splice_acceptor_variant	Absent	PAT	Familial	2025	40664679		SJG2010	asymptomatic	F	3.0	NA
P0956	c.1018-1G>T	p.?	splice_acceptor_variant	Absent	PAT	Familial	2025	40664679		SJG2011	asymptomatic	M	10.0	NA
P0957	c.1018-1G>T	p.?	splice_acceptor_variant	Absent	PAT	Familial	2025	40664679		SJG2012	MDS	F	5.0	trisomy 8, trisomy 21	Y	Y
P0958	c.1018-1G>T	p.?	splice_acceptor_variant	Absent	PAT	Familial	2025	40664679		SJG2013	GATA2 deficiency, mild phenotype	F	42.0	NA	Y			Y
P0972	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	Familial	2025	40664679		SJG2028	MDS, immunodeficiency	M	34	normal	Y	Y		Y	Y		STAG2, STAG2
P0973	GATA2 locus duplication	GATA2 locus duplication	transcript_ablation	Absent	PAT	Familial	2021	34638133		3-year-old girl	MDS, immunodeficiency	F	3	trisomy 8	Y		Y		Y	Y
P0974	uniallelic expression of GATA2	uniallelic expression of GATA2	transcript_ablation	Absent	PAT	NA	2014	25111582	27169477, 29375553, 39497062	Haplo 14 / Patient 14	HLH, EBV+ T cell lymphoproliferative disorder	F	20	normal	Y	Y
P0975	c.1114G>A	p.Ala372Thr	missense_variant	Absent	LPAT	De novo	2024	38730328	39497062	Patient 1	HLH	M	28	normal	Y	Y	Y
P0976	c.1150A>G	p.Arg384Gly	missense_variant	Absent	LPAT	De novo	2024	38730328	39497062	Patient 2	HLH, MDS	F	22	normal	Y	Y
P0977	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	NA	2024	38730328	39497062	Patient 3	HLH	M	26	NA	Y	Y	Y
P0978	c.177C>A	p.Tyr59X	stop_gained	Absent	PAT	NA	2021	34040617	39497062	student	HLH	F	29	NA	Y		Y
P0979	c.1009C>T	p.Arg337X	stop_gained	Absent	PAT	NA	2021	34473915	39497062	11-year-old girl	HLH	F	11	NA	Y	Y	Y			Y
P0980	c.1077_1078insA	p.Trp360MetfsX24	frameshift_variant	Absent	PAT	Familial	2018	29493060	39497062	14-year-old male	MDS, HLH	M	14	normal	Y		Y
P0981	NA	p.Arg230HisfsX44	frameshift_variant	Absent	LPAT	NA	2018	29618691	39497062	18-year-old	MDS-RCMD, HLH	M	18	normal	Y	Y					STAG2
P0982	NA	NA	NA	NA	NA	NA	2018	28093780	29375553	29-year-old woman	MDS, immunodeficiency	F	29	NA	Y	Y
P0983	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	NA	2024	39328578		12-year-old	sterile granulomatous lung disease	M	12	NA	Y					Y
P0984	c.1180C>T	p.Gln394X	stop_gained	Absent	PAT	NA	2024	39221430		adopted 14-year-old	cytopenia	M	14	normal	Y	Y			Y
P0985	10.4 Mb interstitial deletion on 3q12.33q22.1	10.4 Mb interstitial deletion on 3q12.33q22.1	transcript_ablation	Absent	PAT	NA	2024	38567931		4-year-old female	neurodevelopmental symptoms	F	4	NA
P0986	NA	NA	NA	NA	NA	NA	2024	38563709		24-year-old female	HLH	F	24	NA	Y	Y
P0987	c.1114G>A	p.Ala372Thr	missense_variant	Absent	LPAT	NA	2021	34051752		39-year-old woman	cytopenia	F	38	normal	Y	Y	Y			Y
P0988	c.354dup	p.Ser119GlufsX66	frameshift_variant	Absent	LPAT	NA	2022	36119727		30-year-old woman	cytopenia	F	30	normal		Y	Y	Y		Y	BCOR, ATM
P0989	c.917G>A	p.Trp306X	stop_gained	Absent	PAT	De novo	2024	38191334		N10	MDS-EB, AML	M	13	monosomy 7	Y						GATA2, RUNX1
P0990	NA	NA	NA	NA	NA	NA	2024	38191334		N12	MDS-EB	F	10	NA							SETBP1, ASXL1
P0997	c.194_195insT	p.Ala66ArgfsX119	frameshift_variant	Absent	LPAT	NA	2024	38951071		16-year-old female	MonoMAC	F	16	normal	Y	Y	Y			Y
P0998	NA	NA	NA	NA	NA	NA	2023	37550272		40-year-old man	AML	M	40	monosomy 7	Y			Y		Y
P0999	c.1168_1170del	p.390delLys	inframe_deletion	Absent	LPAT	NA	2022	35891688		81-year-old man	MDS-IB, CML?, MonoMAC	M	81	t(1;6)(q21;p21), t(13;14)	Y	Y	Y				GATA2, ASXL1, MPL, U2AF1
P1000	c.1075_1102del	p.Trp360SerfsX18	frameshift_variant	Absent	LPAT	NA	2025	40153067		Family 2, Patient 3 (II-2)	G2BMID	F	26	NA		Y		Y	Y	Y
P1001	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	Familial	2025	40264496		26-year-old female	infections	F	26	NA	Y				Y	Y
P1002	c.1113C>A	p.Asn371Lys	missense_variant	Absent	PAT	NA	2025	40311177		25-year-old man	pulmonary disease	M	25	NA	Y	Y				Y
P1003	c.317_318del	p.Ser106CysfsX78	frameshift_variant	Absent	LPAT	NA	2019	30478525		43-year-old woman	MDS-LB	F	43	trisomy 8, trisomy 1, der (1;7)(q10; p10)	Y	Y	Y			Y
P1004	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Absent	PAT	Familial	2022	34529785		126.III.4 / 24	MDS	F	NA	trisomy 8
P1005	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Absent	PAT	Familial	2022	34529785		126.III.23 / 26	MDS	M	NA	trisomy 8							STAG2, STAG2
P1006	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Absent	PAT	Familial	2022	34529785		126.II.8 / 27	asymptomatic	F	NA	normal
P1007	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Absent	PAT	Familial	2022	34529785		126.II.4 / 28	asymptomatic	M	NA	normal
P1008	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2022	34529785		48.II.11	asymptomatic	F	NA	normal							CUX1, DNMT3A, KMT2A, KMT2A, U2AF1
P1009	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2022	34529785		48.III.14	G2BMID	F	NA	der(1;14)(q10;p10), trisomy 21							STAG2
P1010	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2022	34529785		48.II.6	asymptomatic	F	NA	normal
P1011	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2022	34529785		48.II.2	asymptomatic	F	NA	normal
P1012	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2022	34529785		48.II.8	asymptomatic	M	NA	normal
P1013	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2022	34529785	34089740	51.III.1	G2BMID	F	24	normal						Y	ASXL1
P1014	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2022	34529785		51.II.1	asymptomatic	M	NA	normal
P1015	c.1082G>C	p.Arg361Leu	missense_variant	Absent	LPAT	Familial	2022	34529785		52.II.4	G2BMID	F	NA	normal							BCL9
P1016	c.1082G>C	p.Arg361Leu	missense_variant	Absent	LPAT	Familial	2022	34529785		52.II.5	G2BMID	F	NA	normal
P1017	c.1082G>C	p.Arg361Leu	missense_variant	Absent	LPAT	Familial	2022	34529785		P1018	MDS	M	NA	normal							STAG2
P1018	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2022	34529785		349.II.4	MDS	F	NA	trp(1)(q21q32)							DNMT3A, DNMT3A, U2AF1
P1019	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2022	34529785	34089740	349.IV.5	G2BMID	M	30	normal						Y
P1020	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2022	34529785		349.III.16	MDS	F	NA	trisomy 8
P1021	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2022	34529785		349.IV.7	G2BMID	F	NA	normal
P1022	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2022	34529785		4.III.4	MDS	M	NA	monosomy 7, trisomy 8
P1023	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2022	34529785		4.III.5	CMML	M	NA	monosomy 7							ASXL1, SETBP1, U2AF1
P1024	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2022	34529785		1.III.2	asymptomatic	M	NA	normal							DNMT3A
P1025	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2022	34529785	34089740	1.IV.1	G2BMID	F	17	normal
P1026	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2022	34529785		368.I.1	asymptomatic	F	NA	NA							DNMT3A
P1027	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2022	34529785		368.II.1	MDS	M	NA	monosomy 7
P1028	c.802G>T	p.Gly268X	stop_gained	Absent	PAT	NA	2022	34529785		129.I.1	MDS	F	NA	del(13)(q12q14)
P1029	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Absent	PAT	NA	2022	34529785		159.I.1	AML	F	NA	trisomy 8, monosomy 13							KMT2A, MECOM
P1030	c.1021del	p.Ala341ProfsX46	frameshift_variant	Absent	PAT	Familial	2022	34529785		203.I.1	G2BMID	M	NA	normal							DNMT3A
P1031	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	NA	2022	34529785		216.I.1	MDS	F	NA	der(1;7)(q10;p10), 1+der(1;13)(q10;q10), trisomy 8, monosomy X							ASXL1
P1032	c.1114G>A	p.Ala372Thr	missense_variant	Absent	LPAT	De novo	2022	34529785		218.I.1	MDS	F	NA	trisomy 8							DNMT3A
P1033	c.803del	p.Gly268fsX?	frameshift_variant	Absent	PAT	De novo	2022	34529785		233.I.1	G2BMID	F	NA	normal
P1034	c.1123C>T	p.Leu375Phe	missense_variant	Absent	LPAT	De novo	2022	34529785	34089740	256.I.1	AML	F	25	trisomy 8, trisomy 20						Y	NRAS
P1035	c.1082G>A	p.Arg361His	missense_variant	Absent	LPAT	Familial	2022	34529785	34089740	270.I.1	G2BMID	M	NA	normal						Y	BCOR
P1036	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	De novo	2022	34529785	34089740	277.I.1	MDS	F	18	trisomy 8
P1037	c.1186C>T	p.Arg396Trp	missense_variant	Absent	LPAT	NA	2022	34529785		281.I.1	MDS	F	NA	inv(9)(p12q13)							ASXL1
P1038	c.58C>T	p.Gln20X	stop_gained	Absent	PAT	Familial	2022	34529785	34469508	283.II.1 / P12	MDS-MLD	F	23	der(1;7)(q10:p10)		Y	Y				STAG2, RUNX1, BCOR
P1039	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	De novo	2022	34529785		291.I.1	MDS	M	NA	monosomy 7							STAG2
P1040	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Absent	PAT	NA	2022	34529785		293.I.1	AML	M	NA	der(5) t(5;13)(q13q13)
P1041	c.1018_1034del	p.Ser340fsX	frameshift_variant	Absent	PAT	De novo	2022	34529785	34089740	324.I.1	MDS	F	NA	trisomy 8						Y	STAG2
P1042	c.898dup	p.Ala300GfsX83	frameshift_variant	Absent	LPAT	Familial	2022	34529785		330.I.1	MDS	F	NA	normal							ASXL1, BCOR
P1043	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2022	34529785		335.II.1	asymptomatic	F	NA	normal
P1044	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2022	34529785		335.III.1	MDS	F	NA	normal
P1045	c.921dup	p.Arg308AlafsX?	frameshift_variant	Absent	LPAT	NA	2022	34529785		337.I.1	G2BMID	F	NA	normal							STAG2
P1046	c.1159_1160dup	p.Met388fsX?	frameshift_variant	Absent	PAT	Familial	2022	34529785		340.II.1	G2BMID	M	NA	monosomy 7, der(1;7)(q10;p10), del(13)(q12q22)							STAG2‡
P1047	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2022	34529785		342.I.1	MDS	M	NA	monosomy 7							SAMD9, SETBP1, U2AF1
P1048	c.1017+2T>A	p.?	splice_donor_variant	Absent	PAT	De novo	2022	34529785		347.I.1	MDS	F	NA	normal							STAG2
P1049	c.248del	p.Gln83ArgfsX?	frameshift_variant	Absent	PAT	De novo	2022	34529785		350.I.1	MDS	F	NA	normal
P1050	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	De novo	2022	34529785	34089740	351.I.1	MDS	F	17	normal
P1051	c.1017+1G>T	p.?	splice_donor_variant	Absent	LPAT	Familial	2022	34529785		357.I.1	MDS	F	NA	trisomy 8							ASXL1
P1052	c.1017+1G>T	p.?	splice_donor_variant	Absent	LPAT	Familial	2022	34529785	34089740	357.II.1	MDS	F	NA	monosomy 7						Y	RUNX1
P1053	c.1024_1025insGCCG	p.Ala342GlyfsX	frameshift_variant	Absent	LPAT	NA	2022	34529785	34089740	360.I.1	G2BMID	F	20	normal							STAG2
P1054	c.247C>T	p.Gln83X	stop_gained	Absent	PAT	De novo	2022	34529785		362.I.1	MDS	F	NA	monosomy 7							STAG2, STAG2
P1055	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	Familial	2022	34529785	34469508	365.I.1 / P11	MDS-MLD	M	37	der(1;7)(q10;p10), trisomy 8	Y						STAG2, STAG2
P1056	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Absent	PAT	NA	2022	34529785		367.I.1	MDS	F	NA	trisomy 8
P1057	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Absent	PAT	NA	2022	34529785		370.I.1	MDS	F	NA	normal							ASXL1, RUNX1
P1058	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2022	34529785		375.I.2	MDS	F	NA	(1)t(1;15), trisomy 8							ASXL1, CUX1, RAD21
P1059	c.1021del	p.Ala341ProfsX46	frameshift_variant	Absent	PAT	NA	2022	34529785	34089740	378.I.1	MDS	M	12	normal							BCOR
P1060	c.1277C>G	p.Ser426Cys	missense_variant	Absent	VUS	NA	2022	34529785		379.I.1	G2BMID	F	NA	normal
P1061	c.1061C>A	p.Thr354Lys	missense_variant	Absent	LPAT	Familial	2022	34529785	34089740	382.I.2	MDS	F	22	normal						Y
P1062	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2022	34529785		384.I.1	MDS	F	NA	monosomy 7							ASXL1
P1063	c.1024_1025insG	p.Ala342GlyfsX	frameshift_variant	Absent	LPAT	NA	2022	34529785	34089740	389.I.1	G2BMID	F	31	normal						Y
P1064	c.1009C>T	p.Arg337X	stop_gained	Absent	PAT	De novo	2022	34529785		390.I.1	G2BMID	F	NA	normal							ASXL1, STAG2
P1065	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	Familial	2022	34529785	34089740	393.II.1	G2BMID	F	22	normal						Y
P1066	c.1114G>A	p.Ala372Thr	missense_variant	Absent	LPAT	NA	2022	34529785		394.I.1	G2BMID	M	NA	normal
P1067	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	Familial	2022	34529785		47.I.1	asymptomatic	F	NA	normal
P1068	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	Familial	2022	34529785		49.III.2	G2BMID	F	NA	normal
P1069	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2022	34529785		53.V.3	MDS	F	NA	normal							ETV6
P1070	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	Familial	2022	34529785		53.V.4	G2BMID	F	NA	normal
P1071	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	De novo	2022	34529785		65	G2BMID	F	NA	normal							NOTCH2
P1072	c.680_683del	p.Ser227fsX?	frameshift_variant	Absent	PAT	De novo	2022	34529785		66	G2BMID	F	NA	normal							STAG2
P1073	c.1150del	p.Arg384GlyfsX3	frameshift_variant	Absent	PAT	De novo	2022	34529785		71	G2BMID	M	NA	normal
P1074	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	De novo	2022	34529785		77	G2BMID	F	NA	normal
P1075	c.1192C>T	p.Arg398Trp	missense_variant	Absent	PAT	Familial	2022	34529785		80	G2BMID	F	NA	normal
P1076	c.840del	p.Lys281SerfsX?	frameshift_variant	Absent	PAT	De novo	2022	34529785		82	G2BMID	F	NA	normal
P1077	c.1187G>A	p.Arg396Gln	missense_variant	Absent	PAT	Familial	2022	34529785		95	MDS	F	NA	normal							ASXL1
P1078	c.839del	p.Phe280LeufsX?	frameshift_variant	Absent	LPAT	NA	2022	34529785		101	MDS	M	NA	trisomy 8
P1079	c.1084C>T	p.Arg362X	stop_gained	Absent	PAT	De novo	2022	34529785		104	G2BMID	M	NA	normal							STAG2, STAG2
P1080	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2021	34469508		P9	MDS unclassified	M	16	der(1;7)(q10;p10), trisomy 1
P1081	c.345dup	p.Trp116LeufsX69	frameshift_variant	Absent	LPAT	NA	2021	34469508		P14	MDS-EB	M	24	der(1;7)(q10;p10), trisomy 1, trisomy 8		Y					GATA2, GATA2, IDH2
P1082	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	NA	2021	34469508		P17	MDS unclassified	F	31	der(1;7)(q10;p10), trisomy 1, trisomy 8	Y						SF3B1
P1083	c.1113C>A	p.Asn371Lys	missense_variant	Absent	PAT	NA	2021	34469508		P18	RCC	M	16	der(1;7)(q10;p10), trisomy 1
P1084	c.803del	p.Gly268fsX?	frameshift_variant	Absent	PAT	NA	2021	34469508		P19	MDS-EB	F	14	der(1;7)(q10;p10), trisomy 1, trisomy 8							STAG2, STAG2, SETBP1
P1085	c.1021_1024dup	p.Ala342GlyfsX43	frameshift_variant	Absent	PAT	NA	2021	34469508		P20	AML-MRC	M	24	der(1;7)(q10;p10), trisomy 1, trisomy 8						Y
P1086	c.971del	p.Lys324ArgfsX2	frameshift_variant	Absent	LPAT	NA	2021	34469508		P21	RCC	M	14	der(1;7)(q10;p10), trisomy 1	Y	Y
P1087	c.1163T>C	p.Met388Thr	missense_variant	Absent	LPAT	NA	2021	34469508		P22	MDS	M	58	der(1;7)(q10;p10), trisomy 1, del(Y)	Y						ASXL1
P1088	c.631del	p.Val211SerfsX7	frameshift_variant	Absent	LPAT	NA	2021	34469508		P23	AML	F	15.8	trisomy 1,der(1;7)(q10;p10),trisomy 8, trisomy 14, trisomy 19, trisomy 2							RUNX1, EZH2
P1089	c.1017+572C>T	p.=	regulatory_region_variant	Absent	LPAT	NA	2021	34469508		P24	MDS-MLD	M	31	der(1;7)(q10;p10)	Y	Y					ETNK1
P1090	c.1061C>T	p.Thr354Met	missense_variant	Absent	PAT	NA	2021	34469508		25	MDS-MLD	M	26	der(1;7)(q10;p10), trisomy 1	Y		Y				ASXL1, CUX1, STAG2
P1091	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Absent	PAT	NA	2025	40340131		Patient #3	pulmonary disease	M	23	NA						Y

B-ALL: B-cell acute lymphoblastic leukemia, +add: additional chromosome, AML: acute myeloid leukemia, AML-MRC: with myelodysplasia-related changes, AUL: acute undifferentiated leukemia, BM: bone marrow, chr: chromosome, cMDS-LB: childhood MDS with low blasts, CMML: chronic myelomonocytic leukemia, DCML: dendritic cell: monocyte: B and NK lymphoid deficiency, del: deletion, der: derived chromosome, dic: dicentric chromosome, HLH: hemophagocytic lymphohistiocytosis, i: inversion, ITP: immune thrombocytopenia, LGL: large granular lymphocyte leukemia: LPAT: Likely Pathogenic, M0-M7: subgroups of the French-American-British (FAB) classification of AML, MDR-AML: MDS-related AML, MDS: myelodysplastic syndrome, MDS-EB: MDS with excess blast, MDS-IB: MDS with increased blasts, MPN: myeloproliferative neoplasm, MDS-LB: MDS with low blasts: MDS-SLD: MDS with single lineage dysplasia, MDS-U: unclassifiable MDS, NA: not available, NHL: non-Hodgkin lymphoma, NK: natural killer, PAT: Pathogenic, RAEB: refractory cytopenia with excess blast, RAEBt: refractory anemia with excess of blasts in transformation, PBL: plasmablastic lymphoma, PMF: primary myelofibrosis, RCC: refractory cytopenia of childhood, RCMD: refractory cytopenia with multilineage dysplasia, RCUD: refractory cytopenia with unilineage dysplasia, sAML: secondary AML, SLE: systemic lupus erythematosus: t: translocation, T-ALL: T-cell acute lymphoblastic leukemia, T-AML: therapy-related AML, t-MDS: therapy-related MDS, tris: trisomy, VUS: Variant of Unknown Significance