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 immune dysregulation	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	Novel	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	Novel	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	fever, panniculitis, low NK count, monocytopenia, low B cell count, low T lymphocyte count	perineal HPV with condylomata, parvovirus B19, VZV	Y			progressive PAP-like disease, respiratory failure, pulmonary hipertension	ASXL1
P0003	c.1192C>T	p.Arg398Trp	missense_variant	Novel	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)	fever, noncaseating epitheloid granulomas, low NK count, low B cell count	verrucae	Y			pulmonary infiltrates, pleural effusions
P0004	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	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	fever, panniculitis, low NK count, low B cell count, monocytopenia, sarcoidosis	genital HPV, verruca plana, verruca vulgaris	Y			intersitial infiltrates, PAP
P0005	c.1-200_871+527del	p.Met1del290	transcript_ablation	Novel	PAT	familial	2011	21670465	20040766, 22147895, 23502222, 24227816, 25359990	13.II.1	MonoMac, MDS	M	31	monosomy 7, trisomy 8	fever, nonnecrotizing granulomas, hypogranulated neutrophils, no monocyte maturation, sarcoidosis	verruca plana, verruca vulgaris, HSV	Y			pulmonary infiltrates, PAP, PAH
P0006	c.1-200_871+527del	p.Met1del290	transcript_ablation	Novel	PAT	unknown	2011	21670465	20040766, 22147895, 23502222, 24227816, 25359990	13.I.2	DCML, MDS-RCUD, Emberger syndrome	F	60	normal	low NK count, low B cell count, monocytopenia	HPV verrucae		Y		bilateral apical scarring, hilar lymph node calcification
P0007	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	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	low B cell count, monocytopenia	anal HPV, genital HPV	Y			PAP
P0008	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2011	21670465	24227816, 27169477, 23502222, 28642594, 29375553, 34089740	19.II.1/ Kindred 19	MonoMac	M	20	NA	fever, low NK count, low B cell count, low T cell count, monocytopenia	chronic EBV	Y
P0009	c.951_952ins11	p.Asn317PhefsX	frameshift_variant	Novel	LPAT	unknown	2011	21670465		22	NA	NA	NA	NA
P0010	uniallelic expression of GATA2	uniallelic expression of GATA2	transcript_ablation	Novel	PAT	unknown	2011	21670465	24227816, 23502222	23.I.1 / Kindred 23	MDS-RCMD	M	21	NA	low B, NK, T cell count		Y
P0011	c.310_311insCC	p.Leu105ProfsX15	frameshift_variant	Novel	PAT	familial	2011	21892158		Emb-01 II-1	Emberger-syndrome	M	NA	NA	low CD4/CD8 ratio, low CD4/CD8 ratio			Y
P0012	c.310_311insCC	p.Leu105ProfsX15	frameshift_variant	Novel	PAT	familial	2011	21892158		Emb-01 II-4	MDS, AML	F	50	NA		skin HPV		Y
P0013	c.310_311insCC	p.Leu105ProfsX15	frameshift_variant	Novel	PAT	familial	2011	21892158		Emb-01 III-1	MDS, AML	F	11	NA				Y
P0014	c.310_311insCC	p.Leu105ProfsX15	frameshift_variant	Novel	PAT	familial	2011	21892158		Emb-01 III-3	MDS, AML	F	9	monosomy 7
P0015	c.310_311insCC	p.Leu105ProfsX15	frameshift_variant	Novel	PAT	familial	2011	21892158		Emb-01 III-4	Emberger-syndrome	M	NA	NA	low CD4/CD8 ratio, low CD4/CD8 ratio			Y
P0016	c.230-1_230insC	p.Arg78ProfsX107	frameshift_variant	Novel	PAT	unknown	2011	21892158		Emb-02 I-2	Emberger-syndrome	F	NA	NA				Y
P0017	c.230-1_230insC	p.Arg78ProfsX107	frameshift_variant	Novel	PAT	familial	2011	21892158		Emb-02 II-1	Emberger-syndrome	F	16	monosomy 7				Y
P0018	c.230-1_230insC	p.Arg78ProfsX107	frameshift_variant	Novel	PAT	familial	2011	21892158		Emb-02 II-2	MDS, AML	M	17	monosomy 7				Y
P0019	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2011	21892162	12145700, 28642594	1/III-2	MDS, AML	M	16	1q isochromosome	psoriasis, neutrophilic dermatosis
P0020	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2011	21892162	12145700, 28642594	1/III-4	MDS, AML	F	32	NA	psoriasis, neutrophilic dermatosis
P0021	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2011	21892162	28642594	1/III-5	asymptomatic	M	NA	NA
P0022	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2011	21892162	28642594	1/III-8	asymptomatic	M	NA	NA
P0023	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2011	21892162	28642594	1/III-9	MDS, AML	M	30	NA
P0024	c.1061C>T	p.Thr354Met	missense_variant	Novel	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	Novel	PAT	familial	2011	21892162	28642594	1/IV-2	MDS, AML	F	15	NA							SETBP1 (G870S), RUNX1 (R201), ASXL1 (G646fs), CSF3R (Q768), NF1 (I697fs), NRAS (G13V)
P0026	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2011	21892162	28642594	2/II-4	MDS	M	45	monosomy 7, trisomy 8
P0027	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2011	21892162	28642594	2/III-4	MDS	M	20	monosomy 7
P0028	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2011	21892162	28642594	2/III-5	asymptomatic	M	NA	NA
P0029	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2011	21892162	28642594	3/II-2	leukemia	F	59	NA
P0030	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2011	21892162	28642594	3/II-4	symptomatic	M	NA	NA
P0031	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2011	21892162	28642594	3/II-9	AML-M2	F	32	const. 9p21-22 variation
P0032	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2011	21892162	28642594	3/III-1	MDS, AML-M2	M	38	normal
P0033	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2011	21892162	28642594	3/III-4	MDS, AML	M	23	NA
P0034	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2011	21892162	28642594	3/III-6	MDS-RA, AML	M	35	NA
P0035	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2011	21892162	28642594	3/III-9	asymptomatic	M	61	NA
P0036	c.1061C>T	p.Thr354Met	missense_variant	Novel	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	Novel	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	Novel	LPAT	unknown	2011	21892162		4/II-2	MDS-RCMD	M	53	trisomy 8
P0039	c.1063_1065del	p.Thr355del	inframe_deletion	Novel	LPAT	familial	2011	21892162		4/III-1	MDS	M	13	monosomy 7
P0040	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	unknown	2014	24345756	29295841	14.I.1	DCML	M	60	normal	monocytopenia, lymphocytopenia, low APC counts	HPV	Y
P0041	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2011	21242295	21765025, 24345756, 28642594	2.I.1 / Subject 2	DCML	NA	27	normal	monocytopenia, lymphocytopenia	skin HPV (hands and feet), H1N1	Y
P0042	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2011	21242295	21765025, 24345756, 29295841, 28642594	3.III.1	DCML	F	21	normal	monocytopenia; low IgM count, low APC count	perineal HPV				PAP, respiratory failure
P0043	c.1018-1G>T	p.?	splice_acceptor_variant	Novel	PAT	unknown	2011	21242295	21765025, 24345756	4.I.1	DCML, MDS	NA	23	normal	erythema nodosum	skin HPV (hands)	Y
P0044	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2012	22147895	28642594	FHCRC-97 / Patient 1	MDS, DCML, aplastic anemia	F	10	del(5q)	recurrent fever	parainfluenza					biCEBPA
P0045	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2012	22147895	28642594	FHCRC-84 / Patient 2	MDS	F	14	monosomy 7
P0046	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	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	Novel	PAT	de novo	2012	22147895		GC54819	MDS, DCML	M	NA	NA
P0048	3q13.33-q21.3 deletion	3q13.33-q21.3 deletion	transcript_ablation	Novel	PAT	de novo	2012	22147895		GC42542	MDS, AML, DCML	M	16	trisomy 21				Y
P0049	c.310_311insCC	p.Leu105ProfsX15	frameshift_variant	Novel	PAT	unknown	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	Novel	PAT	familial	2012	22533337	32098966, 28642594,	Family 23-23	AML	M	14	NA
P0052	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2012	22533337	32098966, 28642594,	Family 26-Proband	MDS-RAEB	F	26	hyperdiploidy
P0053	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	familial	2012	22533337	28642594	Family 23-brother of 23	MDS	M	16	NA
P0054	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2012	22533337	28642594	Family 26-sister	MDS	F	28	normal
P0055	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2012	22271902	28642594	III-5	asymptomatic	M	52	NA
P0056	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2012	22271902	28642594	III-1	asymptomatic	M	60	NA
P0057	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2012	22271902	28642594	III-7	asymptomatic	M	51	NA
P0058	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2012	22271902	32098966, 28642594	IV-1	MDS-RAEB1	M	18	monosomy 7	monocytopenia	plantar HPV					ASXL1
P0059	c.1061C>T	p.Thr354Met	missense_variant	Novel	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	Novel	PAT	familial	2012	22271902	32098966, 28642594	IV-10	symptomatic	F	31	normal	monocytopenia, low NK cells
P0061	c.871+2_3insT	p.?	splice_donor_variant	Novel	LPAT	unknown	2017	26395816	39497062	African American woman	HLH, blastomycosis	F	18	NA	fever, HLH, low B, NK cells counts, monocytopenia, neutropenia	disseminated HSV1		Y
P0062	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	familial	2013	23728141	24227816, 27169477, 25359990, 24077845, 29375553, 34089740, 34529785	42.I.1 / Filipino man / 43/ 19	MonoMac, MDS-RCMD	M	18	normal	intermittent fever, nonnecrotizing granulomas (lung), low NK count, monocytopenia, lymphocytopenia, erythema nodosum	plantar HPV, palmar HPV, EBV	Y				KDM2A
P0063	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2013	23502222		25.I.1	MonoMac, MDS	NA	13	NA	low NK count, low B cell count, low T cell count, monocytopenia	HPV	Y
P0064	c.769_778dup	p.Tyr260fsX25	frameshift_variant	Novel	PAT	unknown	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	low NK count, low B cell count, low T cell count, monocytopenia	HPV, mulloscum contagiosum	Y	Y
P0065	c.941_951dup	p.Ala318ThrfsX12	frameshift_variant	Novel	LPAT	unknown	2013	23502222	24227816, 25359990, 24077845, 21670465, 36357187	22.I.1/39/ Kindred 22 / Patient 3	MonoMac, MDS-RCMD	F	25	monosomy 6	low NK count, low B cell count, low T cell count, monocytopenia, lupus anticoagulant positivity	HPV	Y	Y		PAP
P0066	c.1163T>C	p.Met388Thr	missense_variant	Novel	LPAT	familial	2013	23502222		30.II.1	MonoMac	NA	21	NA	low NK count, low B cell count, monocytopenia	HSV	Y
P0067	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2013	23502222	24227816, 20040766, 37406166	4.II.5R/ 4.II.5 / Family_4_3	MDS, AML	F	19	monosomy 7	low NK count, low B cell count	HPV					IRF4
P0068	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2013	23502222	24227816, 37406166, 34529785	4.III.2R/ 4.III.2 / Family_4_4/ 91	asymptomatic	F	23	NA	low NK count
P0069	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2013	23502222	37406166	4.III.3 / Family_4_5	asymptomatic	NA	21	NA	low NK count
P0070	c.1017+512del	p.=	regulatory_region_variant	Novel	VUS	unknown	2013	23502222	24227816, 20040766, 23365458, 22996659, 24077845, 34529785	6.I.1R/ 6.I.1/ Patient 5/ 25/ 102	symptomatic	M	13	NA	B, NK cell low, monocytopenia			Y
P0071	c.1017+512del	p.=	regulatory_region_variant	Novel	VUS	familial	2013	23502222		6.III.2	asymptomatic	NA	1.5	NA
P0072	c.1-276T>G	p.=	regulatory_region_variant	Novel	VUS	unknown	2013	23502222		33.II.1	symptomatic	NA	50	NA
P0073	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2013	23223431	29724903, 22533337, 36727400, 28642594	P46 (mother)/ Family 23 Mother/ P1.II-4 (#6227)/ 66	AML-M2	F	35	normal	monocytopenia, neutropenia	CMV					ASXL1, SETBP1, U2AF1
P0074	c.1187G>A	p.Arg396Gln	missense_variant	Novel	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	low NK count, low B cell count, monocytopenia	chronic EBV replication				pulmonary distress syndrome, bronchiectasis
P0075	c.1187G>A	p.Arg396Gln	missense_variant	Novel	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)	monocytopenia, neutropenia						WT1
P0076	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	familial	2013	23223431	29724903, 36727400, 28642594	P46 (brother) / 65	MDS	M	6	monosomy 7	recurrent fever, neutropenia	chronic weak EBV replication					ASXL1
P0077	c.1114G>A	p.Ala372Thr	missense_variant	Novel	LPAT	familial	2013	23223431	29724903, 36727400	P36* / 34	AML-M5	F	13	monosomy 7, trisomy 15, trisomy 20, t(11;19)	low NK count, lymhpocytopenia, monocytopenia	H1N1 pneumonia, labial HSV
P0078	c.1162A>G	p.Met388Val	missense_variant	Novel	LPAT	unknown	2013	23223431	29724903	P43 (mother)	WHIM-like syndrome, MDS	F	30	trisomy 8	low NK count, low B cell count, monocytopenia, WHIM syndrome	skin HPV, genital HPV, HSV
P0079	c.1162A>G	p.Met388Val	missense_variant	Novel	LPAT	familial	2013	23223431	29724903	P43*	MDS	M	12	trisomy 8, monosomy 7q	monocytopenia
P0080	c.988C>T	p.Arg330X	stop_gained	Novel	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	low NK count, low B cell count, monocytopenia	cutaneous HPV
P0081	c.988C>T	p.Arg330X	stop_gained	Novel	PAT	familial	2013	23223431	29724903	P15 (brother)	MDS	M	19	trisomy 1,der(1;7)(q10;p10), monosomy 21	low NK count, low B cell count, monocytopenia, dendritic cell deficiency	HPV
P0082	c.988C>T	p.Arg330X	stop_gained	Novel	PAT	familial	2013	23223431	29724903	P15 (brother)	symptomatic	M	14	normal	low B cell count
P0083	c.988C>T	p.Arg330X	stop_gained	Novel	PAT	familial	2013	23223431	29724903	P15 (father)	asymptomatic	M	56	NA	low B cell count
P0084	c.988C>T	p.Arg330X	stop_gained	Novel	PAT	familial	2013	23223431	29724903	P15 (paternal uncle)	symptomatic	M	31	NA	monocytopenia	cutaneous and genital HPV
P0085	c.1025_1026insGCCG	p.Ala342GlyfsX41	frameshift_variant	Novel	LPAT	unknown	2013	23365458	2543925	Patient 1	NK-cell deficiency, aplastic anemia	F	NA	NA	no NK cells	VZV,CMV,HSV				interstitial lung disease
P0086	c.1017+572C>T	p.=	regulatory_region_variant	Novel	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	fever, common variable immunodeficiency, low NK count, low B cell count, monocytopenia, discoid lupus, erythema nodosum	HPV, CMV	Y			PAP, dyspnea	ASXL1, U2AF1
P0087	c.417dup	p.Val140CysfsX44	frameshift_variant	Novel	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	low NK count, low B cell count, monocytopenia	HPV					ASXL1, ASXL1, JAK2
P0088	c.77A>C	p.His26Pro	missense_variant	Novel	VUS	familial	2013	23563236	32098966	index patient	MDS	F	30	normal	non-caseating granulomas, low NK count, low B cell count, monocytopenia	verrucae palmaris, verrucae plantaris				bronchiectasis, fibrotic changes, nodular pulmonary lesions, pleural effusion
P0088	c.83del	p.Gly28AlafsX52	frameshift_variant	Novel	PAT	familial	2013	23563236	32098966	index patient	MDS	F	30	normal	non-caseating granulomas, low NK count, low B cell count, monocytopenia	verrucae palmaris, verrucae plantaris				bronchiectasis, fibrotic changes, nodular pulmonary lesions, pleural effusion
P0089	c.77A>C	p.His26Pro	missense_variant	Novel	VUS	familial	2013	23563236	32098966, 29375553	index patient (patient II-9) father	MDS, EBV+ peripheral T-cell NHL	M	NA	monosomy 7		EBV
P0089	c.83del	p.Gly28AlafsX52	frameshift_variant	Novel	PAT	familial	2013	23563236	32098966, 29375553	index patient (patient II-9) father	MDS, EBV+ peripheral T-cell NHL	M	NA	monosomy 7		EBV
P0090	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2014	24077845	24227816, 25359990, 23502222, 21892162, 25111582, 34529785	35.III.3/1	MDS-RCMD	M	32	trisomy 8	low NK count, low B cell count, monocytopenia					ground glass infiltrates, reticular infiltrates
P0091	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2014	24077845	23502222, 24227816, 34529785	25.II.1/ 2	MDS-RCMD	M	34	normal		HPV	Y				ASXL1, PTPN11, SMC1A, STAG2
P0092	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	2014	24077845	24227816, 20040766, 28642594	3.I.1/ 8/ Kindred 3	CMML, MonoMAC, LGL	F	49	NA	B, T, NK cell low, monocytopenia						ASXL1
P0093	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2014	24077845	24227816, 20040766, 21670465, 28642594, 27169477, 29375553	1.II.1/4A/ Kindred 1.II.1	MonoMac, CMML	F	40	normal	fever, low NK count, low B cell count, monocytopenia	genital HPV, herpatic esophagitis, EBV, post HSCT viral infection	Y			dyspnea, bronciolitis obliterans, respiratory failure	ASXL1
P0094	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	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		HPV					TET2, TET2, TET2
P0095	c.243delinsGC	p.Gly82fsX?	frameshift_variant	Novel	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	B, NK cell low, monocytopenia	HPV	Y				DNMT3A, STAG2
P0096	c.1083_1094del	p.Arg361del4ArgAsnAlaAsn	inframe_deletion	Novel	LPAT	unknown	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	B, T, NK cell low, monocytopenia	severe perineal HPV, HCV with cirrhosis	Y				ASXL1
P0097	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2014	24077845	24227816, 25359990, 23502222, 20040766	13/11.II.1	MDS-RCUD	F	31	normal	B, NK cell low, monocytopenia	HPV, VZV					ASXL1
P0098	c.1113C>G	p.Asn371Lys	missense_variant	Novel	PAT	unknown	2014	24077845	20040766, 21670465, 24227816	10.I.1/ 14/ Kindred 10	MDS-RAEB1, AML, MonoMAC	F	37	monosomy 7, marker chromosome	B, T, NK cell low, monocytopenia, lupus-like symptoms						ASXL1
P0099	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2014	24077845	21670465, 24227816, 30578959, 8701948, 28642594, 34089740	16/ Kindred 18/ 18.I.2/ Patient ID#12W	MDS-RCMD, MonoMac	F	16	trisomy 8	B, T, NK cell low, monocytopenia		Y				ASXL1
P0100	c.1018-1G>A	p.? (r.340_381del)	splice_acceptor_variant	Novel	PAT	unknown	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)	B, T, NK cell low, monocytopenia	HPV, VZV	Y				ASXL1
P0101	c.302del	p.Gly101fsX?	frameshift_variant	Novel	PAT	unknown	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)	low B cell count	disseminated CMV, CMV gastroduodenitis, HSV2					ASXL1, CBL, DNMT3A
P0102	c.1116_1130del	p.Cys373del5	inframe_deletion	Novel	LPAT	familial	2014	24077845	24227816	34.II.1/20C	MDS	M	15	monosomy 7
P0103	c.1116_1130del	p.Cys373del5	inframe_deletion	Novel	LPAT	unknown	2014	24077845	24227816, 34529785	34.I.1R/21C/ 9	MDS	F	50	normal
P0104	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2014	24077845	23502222, 24227816, 28642594	40.I.1R/40.I.1/ 22	asymptomatic	M	55	normal	low B cell count
P0105	c.1099dup	p.Asp367GlyfsX15	frameshift_variant	Novel	PAT	familial	2014	24077845	24227816, 25359990	33.III.1/ 23A	MDS-RCMD	F	17	normal	low NK count, low B cell count, monocytopenia		Y				ASXL1
P0106	c.1-276T>G	p.=	regulatory_region_variant	Novel	VUS	familial	2014	24077845	24227816	33.III.3R/24A	asymptomatic	NA	9	NA	monocytopenia
P0106	c.1099dup	p.Asp367GlyfsX15	frameshift_variant	Novel	PAT	familial	2014	24077845	24227816	33.III.3R/24A	symptomatic	F	10	normal	monocytopenia
P0107	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2014	24077845	24227816, 23502222, 23365458, 20040766, 22996659	6.II.1/ Patient 5/ 25	MDS-RCMD	F	26	normal	B, NK cell low, monocytopenia	perineal HPV	Y
P0108	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	familial	2014	24077845	30578959, 25359990, 24227816, 28642594, 34089740	31.II.1/26D/ Patient ID#6W	MDS-RCMD	M	31	normal	low NK count, low B cell count, monocytopenia, sarcoidosis-like pulmonary process	HPV					STAG2
P0109	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	familial	2014	24077845	24227816, 25359990, 28642594, 34529785	31.II.2R/27D/ 10	MDS-RCMD	M	29	normal	low NK count, low B cell count, monocytopenia						STAG2
P0110	c.586_593dup	p.Gly199LeufsX21	frameshift_variant	Novel	PAT	unknown	2014	24077845	30578959, 24227816, 23502222, 34529785	27.I.1/ 28/ Patient ID#10W/ 11	MDS	F	46	9q deletion		HPV	Y				ASXL1
P0111	c.988C>T	p.Arg330X	stop_gained	Novel	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	fever, low NK count, low B cell count, low T cell count, monocytopenia	skin HPV, genital HPV, HSV, EBV, herpes stomatitis					STAG2
P0112	c.988C>T	p.Arg330X	stop_gained	Novel	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	fever, low NK count, low B cell count, low T cell count, monocytopenia	HPV, HSV, EBV, molluscum contagiosum, herpes stomatitis		Y			ASXL1
P0113	c.1186C>T	p.Arg396Trp	missense_variant	Novel	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	B, NK cell low, monocytopenia	HSV	Y				STAG2
P0114	c.988C>T	p.Arg330X	stop_gained	Novel	PAT	unknown	2014	24077845		34	MDS	M	15	monosomy 7
P0115	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2014	24077845	24227816, 25359990, 20040766, 21670465, 23502222	9.III.1/ Kindred 9/ 35	MDS-RCMD, MonoMac	M	22	normal	B, NK cell low, monocytopenia	HPV
P0116	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	2022	34529785	34089740	9.II.1	MDS	M	22	normal							BCOR, SRSF2, STAG
P0117	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2022	34529785		9.III.2	asymptomatic	M	NA	normal
P0118	c.1017+512C>T	p.=	regulatory_region_variant	Novel	VUS	unknown	2014	24077845	23502222	36 / 28.I.1	MDS	F	24	normal	B, NK cell low, monocytopenia	CMV pneumonia					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	B, T, NK cell low, monocytopenia		Y				DNMT3A, FLT3
P0120	c.1123C>T	p.Leu375Phe	missense_variant	Novel	LPAT	familial	2014	24359037	24077845	38 / Saudi Arabian man	MonoMac, MDS	M	24	normal	intermittent fever, small bowel inflammation, splenic inflammation, peritoneal inflammation, granulomatous inflammation, low NK count, low B cell count, monocytopenia, inverse CD4:CD8 ratio	generalized verrucosis, HPV	Y
P0121	c.1163T>C	p.Met388Thr	missense_variant	Novel	LPAT	familial	2014	24077845	24227816, 23502222	30.II.1/40B	symptomatic	F	43	normal	B, NK cell low, monocytopenia	HSV, HPV	Y			PAP
P0122	c.1163T>C	p.Met388Thr	missense_variant	Novel	LPAT	familial	2014	24077845		41	NA	M	77	normal
P0123	c.1009C>T	p.Arg337X	stop_gained	Novel	PAT	de novo	2014	24077845	23502222, 24227816, 25359990, 34529785	42/41.I.1/ 18	MDS-RCMD, Emberger-syndrome	F	44	monosomy 7	B, NK cell low, monocytopenia	HSV		Y			ASXL1, DNMT3A, SMC1A
P0124	c.793_802del	p.Phe265fsX?	frameshift_variant	Novel	LPAT	unknown	2014	24077845		44	MDS	M	26	normal
P0125	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	de novo	2014	24077845	30578959, 24227816, 27169477, 28642594, 29375553, 34089740	14.I.1/46	MDS, DCML	F	7	normal	low B, NK cells, monocytopenia	EBV, HSV				reticular CT pattern
P0126	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	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	B, T, NK cell low, monocytopenia	skin HPV, mulloscum contagiosum, MCV	Y
P0127	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	unknown	2014	24077845	25359990, 34529785	48/50/ 146.I.1	MDS-RAEB1	M	31	normal							DNMT3A, STAG2
P0128	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2014	24227816	34529785	4.III.1R/ 96	symptomatic	M	30	NA				Y
P0129	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2014	24227816	28642594, 34529785	17.II.2/ 98	asymptomatic	M	5	NA
P0130	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2022	34529785		17.II.1	G2BMID	M	NA	normal							STAG2
P0131	c.1116_1130del	p.Cys373del5	inframe_deletion	Novel	LPAT	familial	2014	24077845	24227816, 25359990, 34089740, 34529785	34.II.2R/34.II.2/20C/ 8	MDS-RCUD	M	14	monosomy 7	low NK count, low B cell count, monocytopenia						STAG2
P0132	c.1163T>C	p.Met388Thr	missense_variant	Novel	LPAT	unknown	2014	24227816	23502222	30.I.1	GATA2 deficiency	M	65	NA		HPV
P0133	c.1163T>C	p.Met388Thr	missense_variant	Novel	LPAT	familial	2014	24227816		30.II.4	symptomatic	F	30	NA		HPV
P0134	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	familial	2014	24227816	28642594	40.II.1	MDS-RCMD	M	18	trisomy 8		HPV, VZV
P0135	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	familial	2014	24227816	28642594	40.II.2	MDS-RCMD	M	16	trisomy 8		HPV
P0136	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	familial	2014	24227816	28642594	40.II.3	MDS-RCMD	M	14	trisomy 8		HPV, VZV
P0137	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	2014	24345756	28642594	3.II.6	MDS, DCML	F	34	NA	monocytopenia	HPV				respiratory pathology
P0138	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2014	24345756	28642594	3.III.3	asymptomatic	F	26	NA
P0139	c.599del	p.Gly200ValfsX18	frameshift_variant	Novel	PAT	unknown	2014	24345756		6.I.1	symptomatic	NA	18	NA	autoimmunity	HPV		Y		respiratory pathology
P0140	c.599del	p.Gly200ValfsX18	frameshift_variant	Novel	PAT	familial	2014	24345756		6.II.1	MDS	NA	17	NA	monocytopenia
P0141	c.599del	p.Gly200ValfsX18	frameshift_variant	Novel	PAT	familial	2014	24345756		6.II.2	symptomatic	NA	13	NA		HPV
P0142	c.318_319insT	p.Ser106fsX?	frameshift_variant	Novel	PAT	unknown	2014	24345756		7.I.1	symptomatic	NA	10	NA		HPV				respiratory pathology
P0143	c.318_319insT	p.Ser106fsX?	frameshift_variant	Novel	PAT	familial	2014	24345756		7.II.1	symptomatic	F	10	NA		HPV		Y
P0144	c.1193G>A	p.Arg398Gln	missense_variant	Novel	PAT	familial	2014	24345756		8.I.2	asymptomatic	F	62	NA
P0145	c.1193G>A	p.Arg398Gln	missense_variant	Novel	PAT	familial	2014	24345756		8.I.3	symptomatic	M	25	monosomy 7		HPV
P0146	c.1193G>A	p.Arg398Gln	missense_variant	Novel	PAT	familial	2014	24345756	29295841	8.II.1	MDS, AML	M	36	NA	granulomatous hepatitis, inverted CD4/CD8 ratio, low IgM levels, lymphocytopenia, monocytopenia, low APC cell counts	HPV	Y			emphysema
P0147	c.1193G>A	p.Arg398Gln	missense_variant	Novel	PAT	familial	2014	24345756		8.II.4	asymptomatic	M	32	NA
P0148	c.1193G>A	p.Arg398Gln	missense_variant	Novel	PAT	familial	2014	24345756		8.II.5	asymptomatic	M	29	NA
P0149	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2014	24345756	4508672, 28642594	9.III.1	MDS	F	31	NA	monocytopenia	HPV	Y			respiratory pathology
P0150	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2014	24345756	4508672, 28642594	9.III.2	DCML	F	29	NA		HPV
P0151	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2014	24345756	4508672, 28642594	9.III.3	asymptomatic	M	22	NA
P0152	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2014	24345756	4508672, 28642594	9.III.4	symptomatic	M	17	NA
P0153	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2014	24345756	4508672, 28642594	9.III.5	MDS	F	17	trisomy 8	autoimmunity
P0154	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	unknown	2014	24345756	21765025	1.I.1	symptomatic	NA	60	trisomy 8	autoimmunity					respiratory pathology
P0155	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	familial	2011	21242295	21765025, 24345756, 29295841, 36727400	14.II.2 / 5	MDS	M	30	NA	monocytopenia, lymphocytopenia; reverse CD4:CD8 ratio; low APC counts; low IgM levels	HPV	Y			PAP	GATA2, ASXL1
P0156	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2014	24726394		Patient 1	symptomatic	M	3	NA	IgG deficiency, IgA deficiency, low NK count, low B cell count, lowT cell count, monocytopenia, abnormal vaccine response	HPV	Y			bronchiectasis
P0157	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2014	24726394		Patient 2	symptomatic	F	48	NA	low NK count, low B cell count, low T cell count,monocytopenia, low IgG level
P0158	c.988C>T	p.Arg330X	stop_gained	Novel	PAT	unknown	2014	24782121		Patient 1	MDS-RAEB2, AML, monoMAC	M	35	trisomy 8		HPV	Y				EZH2, GATA1, HECW2
P0159	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2014	25111582		MRD 2	MDS-RCMD	F	46	NA	low NK count, low B cell count, monocytopenia	skin HPV, VZV	Y			PAP
P0160	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2014	25111582		URD 5	MDS-RCMD	M	33	deletion of chromosome Y	low NK count, low B cell count, monocytopenia	skin HPV, molluscum contagiosum	Y
P0161	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2014	25111582		UCB 9	MDS-RAEB2, AML	F	41	monosomy 6, +r	low NK count, low B cell count, monocytopenia	skin HPV, genital HPV	Y			PAP
P0162	c.892dup	p.Cys298LeufsX86	frameshift_variant	Novel	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	Novel	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	Novel	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	Novel	PAT	familial	2015	26022708		Family 3 - Patient 5	MDS	NA	NA	monosomy 7							ASXL1, SETBP1
P0166	c.1018-2A>G	p.?	splice_acceptor_variant	Novel	PAT	unknown	2015	26022708		Family 3 - Patient 6	Emberger-syndrome	F	NA	NA				Y
P0167	c.1339A>C	p.Ser447Arg	missense_variant	Novel	LPAT	familial	2015	25619630	31246134	5 / Family 1 P1 (IV-2)	AML	M	38	trisomy 1, der(1;21), (q10;q10), trisomy 8	NK deficiency, B cell deficiency	HPV, CMV				progressive dyspnea	ASXL1, DNMT3A, ETV6
P0168	c.1339A>C	p.Ser447Arg	missense_variant	Novel	LPAT	familial	2015	25619630	31246134	7 / Family 1 P2 (IV-4)	MDS	F	35	normal	NK deficiency, B cell deficiency	HPV, CMV					ASXL1
P0169	c.1339A>C	p.Ser447Arg	missense_variant	Novel	LPAT	familial	2015	25619630	31246134	4 / Family 1 P3 (V-1)	MDS	F	10	normal	NK deficiency, B cell deficiency	HPV, CMV
P0170	c.1339A>C	p.Ser447Arg	missense_variant	Novel	LPAT	familial	2015	25619630	31246134	6 / Family 1 P4 (V-3)	Emberger-syndrome, aplastic anemia, MDS	M	7	normal	NK deficiency, B cell deficiency	HPV, CMV		Y		pulmonary stenosis	ASXL1
P0171	c.1339A>C	p.Ser447Arg	missense_variant	Novel	LPAT	familial	2015	25619630	31246134	2 / Family 1 (III-8)	MDS	F	56	normal
P0172	c.1339A>C	p.Ser447Arg	missense_variant	Novel	LPAT	familial	2015	25619630	31246134	3 / Family 1 (IV-3)	suboptimal NK cell function	F	30	NA	NK deficiency						ASXL1
P0173	c.1339A>C	p.Ser447Arg	missense_variant	Novel	LPAT	familial	2015	25619630	31246134	1 / Family 1 (IV-9)	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	fever, low B cell count, monocytopenia , vasculitis	EBV				diffuse parenchymal lung disease,bronchiectasis, peribronchitis, fibrotisation, subpleural cystic remodeling, emphysema, caugh, dyspnea
P0175	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	familial	2015	25879889		Caucasian Family-youngest son	GATA2 deficiency	M	13	NA	monocytopenia
P0176	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	unknown	2015	25879889		Caucasian Family-Father	GATA2 deficiency	M	45	NA	low B cell count, bilateral ankylosing spondylitis (HLA-B27 positive)
P0177	c.988C>T	p.Arg330X	stop_gained	Novel	PAT	familial	2015	25239263		FH-181	MDS	F	22	trisomy 8
P0178	c.1078T>A	p.Trp360Arg	missense_variant	Novel	PAT	familial	2015	25239263		CH-119	symptomatic	M	12	trisomy 8						pulmonary hemorrhage, bronchiolitis obliterans
P0179	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2015	26492932	28642594	1003-001	MDS, AML	F	33	NA
P0180	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2015	26492932	28642594	1003-003	AML	M	68	normal							HNRNPK, RUNX1
P0181	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2016	27013649		UPN4 RCC	MDS-RCC	NA	17	monosomy 7		chronic active EBV
P0182	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	familial	2016	27013649		UPN5 ID/RCC	immunodeficiency	NA	17	normal		HPV, CMV				interstitial lung desease, lung insufficiency
P0183	c.1017+572C>T	p.=	regulatory_region_variant	Novel	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	HLA-B27	EBV				interstitial lung desease
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	Novel	PAT	unknown	2016	27416790		P1	AML, MDS	M	16	monosomy 7		HPV		Y
P0187	c.1009C>T	p.Arg337X	stop_gained	Novel	PAT	familial	2016	27416790		P2	MDS	M	11	monosomy 7	monocytopenia	plantar HPV, recurrent mouth aphtous ulcers			Y
P0188	c.302del	p.Gly101fsX?	frameshift_variant	Novel	PAT	familial	2016	27418648		HIP08919	MDS	M	12	NA
P0189	c.1017+2T>C	p.? (r.Ser340AlafsX49)	splice_donor_variant	Novel	PAT	unknown	2016	27418648		HIP17707	MDS	M	14	NA
P0190	c.988C>T	p.Arg330X	stop_gained	Novel	PAT	unknown	2016	27418648		HIP18921	MDS	F	6	NA
P0191	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2016	27418648	28642594	HIP18952	MDS	F	10	NA
P0192	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	unknown	2016	27418648		HIP20476	MDS	F	16	NA
P0193	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2017	28947108	28747912	Patient 1 / Patient 4	GATA2 deficiency, BM aplasia	F	37	NA	low B cell count, low NK count	genital HPV, skin HPV, CMV		Y		bronchiectasis, chronic lung disease of unknown origin
P0194	c.952G>A	p.Ala318Thr	missense_variant	Novel	VUS	familial	2017	28066994		Patient 1	MDS	F	10	trisomy 8	monocytopenia
P0195	c.988C>T	p.Arg330X	stop_gained	Novel	PAT	familial	2017	28825694		Twin 1	MDS	F	27	trisomy 8	absence of NK cells, absence of B cells, monocytopenia, low CD3 count	EBV mononucleosis, persistent EBV viremia, genital HPV, skin HPV	Y
P0196	c.988C>T	p.Arg330X	stop_gained	Novel	PAT	familial	2017	28825694		Twin 2	MDS	F	27	trisomy 8	absence of NK cells, absence of B cells, monocytopenia, low CD3 count	EBV mononucleosis, persistent EBV viremia, genital HPV, skin HPV, Herpes varicella Zoster infection
P0197	c.1018-1G>A	p.? (r.340_381del)	splice_acceptor_variant	Novel	PAT	unknown	2017	29296959		BMF41	MDS-RCC, AML	F	9	monosomy 7							RUNX1, SETBP1, IKZF1
P0198	c.1018-2A>C	p.?	splice_acceptor_variant	Novel	PAT	unknown	2017	29296959		BMF67	MDS-RCC	M	15	normal
P0199	c.1144-1G>C	p.?	splice_acceptor_variant	Novel	LPAT	unknown	2017	29296959		BMF109	MDS-RCC	F	5	monosomy 7
P0200	c.599del	p.Gly200ValfsX18	frameshift_variant	Novel	PAT	de novo	2017	29296959		BMF129	MDS-RCC	F	8	monosomy 7
P0201	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	familial	2017	27680514		son (III-1)	MonoMac, MDS	M	18	trisomy 8							STAG2
P0202	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2017	27680514		father (II-1)	MonoMac, MDS	M	17	NA							STAG2, BCOR, FANCA
P0203	c.1339A>C	p.Ser447Arg	missense_variant	Novel	LPAT	familial	2017	28259234		NA	GATA2 deficiency	M	9	NA		HPV		Y
P0204	c.130G>T	p.Glu44X	stop_gained	Novel	PAT	unknown	2017	28271814		I-1	asymptomatic	F	33	NA
P0205	c.130G>T	p.Glu44X	stop_gained	Novel	PAT	familial	2017	28271814		II-5	asymptomatic	M	6	NA
P0206	c.130G>T	p.Glu44X	stop_gained	Novel	PAT	familial	2017	28271814	24167460	II-1	symptomatic	M	13	NA	hypogammaglobulinaemia	recurrent HPV		Y
P0207	c.130G>T	p.Glu44X	stop_gained	Novel	PAT	familial	2017	28271814	24167460	II-2	AML	F	12	NA	unspecified hepatitis	chickenpox, HPV		Y		chronic cough
P0208	c.130G>T	p.Glu44X	stop_gained	Novel	PAT	familial	2017	28271814	24167460	II-4	symptomatic	M	8	NA		HPV		Y
P0209	c.1079G>T	p.Trp360Leu	missense_variant	Novel	LPAT	unknown	2017	29146883		UB023	MDS	M	21	monosomy 7
P0210	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2017	29146883		UB040	MDS-RAEB	F	14	tri(8),del20q
P0211	c.423C>A	p.Tyr141X	stop_gained	Novel	PAT	familial	2017	29146883		UB064	MDS	F	16	monosomy 7							TERC
P0212	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	unknown	2017	29146883		UB076	aplastic anemia	M	7	monosomy 7
P0213	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	unknown	2017	29146883		UB097	MDS, MonoMac	M	8	monosomy 7
P0214	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	familial	2017	29146883		UB105	aplastic anemia	M	13	NA
P0215	c.229+13_229+14insGCC	p.?	splice_region_variant	Novel	VUS	familial	2018	29724903		P2*	MDS	F	19	trisomy 8		skin HPV, genital HPV
P0216	c.229+13_229+14insGCC	p.?	splice_region_variant	Novel	VUS	unknown	2018	29724903		P2 (mother)	MDS	F	44	normal	dermo-hypodermitis, rheumatism	genital HPV
P0217	c.437del	p.Gly146ValfsX72	frameshift_variant	Novel	PAT	familial	2018	29724903	36727400	P6* / 55	immunodeficiency, MDS	F	17	normal		EBV, HPV					STAG2, STAG2, STAG2, STAG2, STAG2, STAG2
P0218	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2018	29724903		P16*	MDS	NA	22	der(Y)t(Y;1)(q11.23;q21)		cutaneous HPV
P0219	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2018	29724903		P16 (brother)	NA	M	32	NA
P0220	c.1018_1028del	p.Ser340LysfsX40	frameshift_variant	Novel	PAT	unknown	2018	29724903		P17*	MDS	NA	10	normal			Y
P0221	c.1018_1028del	p.Ser340LysfsX40	frameshift_variant	Novel	PAT	familial	2018	29724903		P17 (daughter)	symptomatic	F	9	NA
P0222	c.1023del	p.Ala342ProfsX45	frameshift_variant	Novel	PAT	familial	2018	29724903	33417088	P19*	symptomatic	NA	11	normal		cutaneous and genital HPV	Y
P0223	c.1023del	p.Ala342ProfsX45	frameshift_variant	Novel	PAT	familial	2018	29724903	33417088	P19 (sister)	symptomatic	F	11	normal		skin HPV	Y
P0224	c.1076T>C	p.Leu359Ser	missense_variant	Novel	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	Novel	LPAT	familial	2018	29724903		P26 (daughter)	asymptomatic	F	10	NA
P0226	c.1085G>C	p.Arg362Pro	missense_variant	Novel	LPAT	familial	2018	29724903	36727400	P34* / 74	MDS, AML	M	17	trisomy 8		skin HPV, genital HPV, HBV					NRAS, PTPN11, SF3B1, SMC1A, TP53
P0227	c.1085G>C	p.Arg362Pro	missense_variant	Novel	LPAT	familial	2018	29724903		P34 (brother)	MDS, AML	M	17	monosomy 7	dermo-hypodermitis			Y
P0228	c.1114G>A	p.Ala372Thr	missense_variant	Novel	LPAT	unknown	2018	29724903		P37*	MDS	F	42	trisomy 8	dermo-hypodermitis, arthritis			Y
P0229	c.1154C>A	p.Pro385Gln	missense_variant	Novel	LPAT	familial	2018	29724903	36727400	P42* / 52	MDS	F	18	normal	Poncet's disease	genital HPV	Y	Y
P0230	c.1154C>A	p.Pro385Gln	missense_variant	Novel	LPAT	familial	2018	29724903		P42 (sister)	MDS	F	17	normal		skin HPV, genital HPV		Y
P0231	c.1154C>A	p.Pro385Gln	missense_variant	Novel	LPAT	familial	2018	29724903	36727400	P42 (son) / 51	asymptomatic	M	15	NA
P0232	c.1154C>A	p.Pro385Gln	missense_variant	Novel	LPAT	familial	2018	29724903		P42 (sister)	T-ALL	F	24	monosomy 7	rheumatoid purpura
P0233	c.1186C>T	p.Arg396Trp	missense_variant	Novel	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	Novel	LPAT	familial	2018	29724903	36727400, 39497062	P45 (brother) / 70	MDS, HLH?	M	7	monosomy 7	HLH?						SETBP1
P0235	c.1193G>A	p.Arg398Gln	missense_variant	Novel	PAT	unknown	2018	29724903	33417088, 39497062	P48*	MDS, HLH	NA	19	normal			Y
P0236	c.1193G>A	p.Arg398Gln	missense_variant	Novel	PAT	familial	2018	29724903	36727400	P48 (son) / 19	asymptomatic	M	13	NA
P0237	c.1193G>A	p.Arg398Gln	missense_variant	Novel	PAT	familial	2018	29724903	36727400	P48 (daughter) / 20	asymptomatic	F	6	NA
P0238	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2018	30232126		1	AML-MRC	M	21	monosomy 7, trisomy 13							NRAS
P0239	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2018	30232126		1 mother	asymptomatic	F	64	NA							SETBP1
P0240	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	familial	2018	30232126		2	MDS	M	13	monosomy 7		HPV
P0241	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	familial	2018	30232126		2 identical twin	MDS	M	31	NA	loss of monocytes, loss of B cells, loss of B cell precursors, loss of NK cells	HPV				lung infiltrates	STAG2
P0242	c.1018-50_1143+247del	p.?	splice_acceptor_variant	Novel	PAT	familial	2018	30232126		3A	MDS	F	15	NA
P0243	c.1018-50_1143+247del	p.?	splice_acceptor_variant	Novel	PAT	familial	2018	30232126		3B	MDS	F	18	monosomy 18, trisomy 22		CMV (POST HSCT)
P0244	c.1018-50_1143+247del	p.?	splice_acceptor_variant	Novel	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	Novel	PAT	familial	2018	30232126		3A 3B sibling #2	MDS	M	51	trisomy 8	loss of monocytes, loss of B cells, loss of B cell precursors, loss of NK cells	HPV		Y
P0246	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2018	29156497		Patient 1	MDS	F	28	trisomy 1q	severe monocytopenia	recurrent herpes labialis, genital HPV
P0247	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2018	29412158		MRD 2	MDS	F	29	trisomy 21, trisomy 1q		genital HPV,VZV
P0248	c.1116_1130del	p.Cys373del5	inframe_deletion	Novel	LPAT	familial	2018	29412158		URD 2	MDS	M	17	monosomy 7		skin HPV, genital HPV
P0249	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	familial	2018	29412158		URD 4	MDS	M	22	normal		skin HPV, genital HPV	Y
P0250	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	familial	2018	29412158		URD 5	MDS	M	18	normal		skin HPV, genital HPV			Y
P0251	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	familial	2018	29412158		URD 8	MDS	M	33	normal		skin HPV, genital HPV
P0252	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	familial	2018	29412158		URD 9	MDS	F	24	normal		genital HPV			Y
P0253	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2018	29412158		URD 11	MDS	F	38	monosomy 13, trisomy 1q, deletion of chromosome X		genital HPV, HCV	Y
P0254	c.1128C>A	p.Tyr376X	stop_gained	Novel	PAT	familial	2018	29412158	34529785	URD 12 / 50.II.2/ 38	MDS	F	18	normal		skin HPV, genital HPV			Y	PAH	STAG2
P0255	c.1128C>A	p.Tyr376X	stop_gained	Novel	PAT	familial	2022	34529785	34469508	50.II.1/ 39 / P10	MDS	M	23	der(1;7)(q10;p10), trisomy 8		HPV			Y		STAG2
P0256	c.988G>T	p.Arg330X	stop_gained	Novel	PAT	unknown	2018	29412158		Haplo 2	MDS	F	27	trisomy 8		genital HPV	Y
P0257	c.988G>T	p.Arg330X	stop_gained	Novel	PAT	unknown	2018	29412158		Haplo 3	MDS	F	27	trisomy 8		skin HPV, genital HPV
P0258	c.1019_1020insCGACTGGGAGGGCAAGGCAG	p.Ala341AspfsX53	frameshift_variant	Novel	LPAT	unknown	2018	29189513		Patient 1	Emberger-syndrome	F	9	normal	low B cell count, low NK count	HPV			Y
P0259	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2018	29588856		P1 (1 family)	aplastic anemia, GATA2 deficiency	F	19	NA	chronic inflammation, low B cell count; absence of dendritic cells in PB; monocytopenia	diffuse aphtous-like ulcers
P0260	c.1187G>T	p.Arg396Leu	missense_variant	Novel	PAT	unknown	2018	29882021		P1	MDS	M	30	NA	monocytopenia, low NK cell count, low B cell count	severe H1N1 (ARDS)
P0261	c.1187G>T	p.Arg396Leu	missense_variant	Novel	PAT	familial	2018	29882021		P2	MDS	M	15	NA	low B-cell count, monocytopenia	severe H1N1 (ARDS)
P0262	c.1187G>T	p.Arg396Leu	missense_variant	Novel	PAT	familial	2018	29882021		P3	symptomatic	F	17	NA	low B-cell count, monocytopenia, low NK count, SLE-like syndrome	genital herpes, flu-like pneumonia, CMV				Focal alveolar proteinosis, interstitial lung fibrosis
P0263	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	unknown	2018	30030275		Patient 1	symptomatic	F	48	normal	recurrent fever, systemic inflammation, monocytopenia, low B cell count, low NK count, low dendritic cell count, low CD4+ T cell count	HPV, HCV	Y			PAP
P0264	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	familial	2018	30030275		Patient 2 (pedigree III-1)	AML	F	22	monosomy 7		respiratory syncytial virus infection
P0265	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2019	30578959		1	MDS	F	23	normal	monocytopenia, lymphopenia	HPV	Y	Y			ASXL1
P0266	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	2019	30578959		2	MDS	F	37	trisomy 1q, loss of X, trisomy 8	monocytopenia, lymphopenia	HPV	Y				MLL, ASXL1
P0267	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	unknown	2019	30578959		3	MDS	M	23	normal	monocytopenia, lymphopenia	HPV	Y			PAP	BCOR
P0268	c.1114G>A	p.Ala372Thr	missense_variant	Novel	LPAT	unknown	2019	30578959		4	MDS	F	44	trisomy 8	monocytopenia, lymphopenia	HPV					DNMT3A
P0269	c.802G>T	p.Gly268X	stop_gained	Novel	PAT	unknown	2019	30578959		9	MDS	F	53	13q deletion	monocytopenia, lymphopenia	HPV		Y		PAP	STAG2, MLL
P0270	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2019	30578959		11	MDS	F	28	normal	monocytopenia, lymphopenia	HPV	Y	Y			ASXL1
P0271	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2019	30578959		14	GATA2 deficiency related bone marrow and immunodeficiency disorder	M	17	normal	monocytopenia	HPV
P0272	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2019	30578959		15	GATA2 deficiency related bone marrow and immunodeficiency disorder	F	23	normal	monocytopenia, lymphopenia	HPV
P0273	c.1021G>C	p.Ala341Pro	missense_variant	Novel	VUS	unknown	2019	30578959		16	GATA2 deficiency related bone marrow and immunodeficiency disorder	M	25	normal	monocytopenia, lymphopenia	HPV
P0274	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2019	30578959		17	GATA2 deficiency related bone marrow and immunodeficiency disorder	M	41	trisomy 8	monocytopenia, lymphopenia	HPV	Y				ASXL1
P0275	c.1036G>A	p.Gly346Ser	missense_variant	Novel	VUS	unknown	2019	30578959		Patient ID#18	GATA2 deficiency related bone marrow and immunodeficiency disorder	M	20	normal	monocytopenia, lymphopenia
P0276	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2019	30578959		19	asymptomatic	F	60	normal
P0277	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2019	30578959		20	asymptomatic	F	31	normal
P0278	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2019	30578959		21	asymptomatic	F	51	normal
P0279	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2019	30578959		22	symptomatic	M	54	normal	lymphopenia
P0280	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2019	30578959		23	symptomatic	M	61	normal		HPV					CEBPA
P0281	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2019	30578959		25	symptomatic	M	7	normal
P0282	c.58C>T	p.Gln20X	stop_gained	Novel	PAT	familial	2019	30802360		NA	T-cell precursor ALL, GATA2 deficiency	F	8	dic(21;22)(p11.2;p11.2)	fever, monocytopenia, lymphopenia, low immunoglobulin levels, absent B cells, low NK count, CD4/CD8 inversion	verruca plantaris, viral meningitis (treatment complication)
P0283	c.1123C>T	p.Leu375Phe	missense_variant	Novel	LPAT	unknown	2019	31245276		Patient 1	MDS, GATA2 deficiency, AML	F	25	trisomy 8, trisomy 20	lymphocytopenia, monocytopenia, low CD3+/CD4+ T cell count, low CD19+ B cell count, low NK count; absent dendritic cells, inverted CD4:CD8 ratio, atypical myeloid maturation pattern	varicella		Y			NRAS
P0284	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2019	31035956		43-year-old white male	MDS-RAEB2, MonoMac	M	43	NA	chronic granulomatous pleuritis, night fevers, granulomatous inflammation of the thyroid gland, granulomatous splenic inflammation, ankle and knee arthritis, monocytopenia, erythema nodosum, vasculitis		Y			bilateral pleural effusion, respiratory distress
P0285	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2019	31035956		son 2	asymptomatic	M	21	NA
P0286	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2019	31035956		son 1	asymptomatic	M	28	NA
P0287	c.17_18del	p.Glu6AlafsX178	frameshift_variant	Novel	PAT	unknown	2019	31033783		17-year-old boy	MDS, MonoMac	M	17	normal	fever, organizing pneumonitis, low T cell count, monocytopenia, low NK count, low B cell count, inverse CD4:CD8 ratio, vasculitis		Y			asthma, reticulonodular infiltrates, decreased bibasilar breath sounds
P0288	c.(16bp tandem repeat in exon 4)	p.Thr347fsX?	frameshift_variant	Novel	PAT	familial	2019	30564229	39497062	Patient 2	HLH, GATA2 deficiency	M	7	NA	fever, HLH, low CD4 T cell count, low B cell count, low NK count, mild hypogammaglobulinemia, slight reduction in degranulation of NK cells, monocytopenia	VZV, EBV				caugh
P0289	c.(16bp tandem repeat in exon 4)	p.Thr347fsX?	frameshift_variant	Novel	PAT	unknown	2019	30564229		Patient 3 (Mother patient 2)	symptomatic	F	NA	NA	low peripheral blood B cell count, low peripheral blood NK count, monocytopenia
P0290	c.1021del	p.Ala341ProfsX46	frameshift_variant	Novel	PAT	unknown	2019	30697248		Patient 1	GATA2 deficiency	M	24	NA	fever, monocytopenia, lymphocytopenia, low NK cell count	West Nile virus encephalitis, HPV		Y
P0291	c.956_962del	p.Cys319SerfsX5	frameshift_variant	Novel	PAT	familial	2019	31106410		P1	MonoMac	M	12	NA	persistent fever, monocytopenia, lymphocytopenia, low NK cell count		Y
P0292	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2019	31106410		P2	MonoMac, low risk MDS	F	20	NA	persistent fever, monocytopenia, lymphocytopenia, low NK cell count	HPV	Y
P0293	c.956_962del	p.Cys319SerfsX5	frameshift_variant	Novel	PAT	unknown	2019	31106410		father of P1	asymptomatic	M	48	NA
P0294	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	2019	31106410		father of P2	asymptomatic	M	55	NA
P0295	c.821del	p.Phe274fsX?	frameshift_variant	Novel	PAT	familial	2019	31309983		20	AML-MRC	M	18	monosomy 7, trisomy 8	monocytopenia
P0296	c.610C>T	p.Arg204X	stop_gained	Novel	PAT	unknown	2019	31309983		48	AML-MRC	M	6	monosomy 7	monocytopenia
P0297	c.1085G>A	p.Arg362Gln	missense_variant	Novel	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	Novel	PAT	familial	2019	31309983		275	bone marrow and immunodeficiency disorder	F	44	normal	monocytopenia, lymphopenia	cervical HPV	Y
P0300	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2019	31309983		337	MDS	F	31	trisomy 8	panniculitis, monocytopenia, low B cell count, low NK count	HPV	Y
P0301	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2019	31753093		11-year-old girl	Emberger-syndrome, MDS, AML	F	11	NA					Y
P0302	c.1192C>T	p.Arg398Trp	missense_variant	Novel	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	Novel	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	Novel	LPAT	unknown	2019	32914014		Patient 1	GATA2 deficiency	M	24	normal	panniculitis, no monocytes, low NK count, low B cell count	HPV
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	Novel	PAT	unknown	2019	32914014		Patient 2	AML	F	36	t(2;12)(p21;p13)	fever, monocytopenia	chronic EBV	Y				CEBPA, NPM1, STAG2, NRAS
P0306	c.1034_1035insTCTTCTTGTGGCGGCTCTTCTGGCGGC	p.Ala345delinsAlaLeuLeuValAlaAlaLeuLeuAlaAla	inframe_insertion	Novel	LPAT	familial	2020	32286542	37406166	III-1 / Family_00B5.046	GATA2 deficiency	F	29	trisomy 8, der(1;15)(q10;q10)	low NK count, low CD4+ T cell count	HPV		Y
P0307	c.1034_1035insTCTTCTTGTGGCGGCTCTTCTGGCGGC	p.Ala345delinsAlaLeuLeuValAlaAlaLeuLeuAlaAla	inframe_insertion	Novel	LPAT	unknown	2020	32286542	37406166	II-1 / Family_00B5.047	symptomatic	F	50	NA	monocytopenia
P0308	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2020	32098966		FML018 index case (III.1)	AML	F	17	NA
P0309	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2020	32098966		FML018 asymptomatic father	asymptomatic	M	NA	NA
P0310	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	familial	2020	32098966		FML019	MDS	F	36	trisomy 8					Y
P0311	c.1121G>A	p.Gly374Asp	missense_variant	Novel	VUS	unknown	2020	32497548		Patient 1	GATA2 deficiency	F	20	NA	panniculitis, monocytopenia, low B cell count, hyper-IgE, elevated ANA antibody, elevated antiphosphatidylserine IgG antibody, elevated IgM antibody, elevated soluble CD25 level			Y
P0312	c.1041del	p.Cys348ValfsX39	frameshift_variant	Novel	PAT	de novo	2014	10.14785	28234738	Case report / Patient 1	MDS, Emberger-syndrome	F	4	monosomy 7	intermittent neutropenia	plantar HPV		Y	Y
P0313	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2010	20040766	21670465, 28642594	5.III.1	AML blast crisis	M	17	NA		recurrent HPV
P0314	c.1023_1026dup	p.Arg344fsX?	frameshift_variant	Novel	PAT	familial	2020	32865708		Brother	AML	M	15	monosomy 7	fever, low B cell count, low NK count, monocytopenia					dry caugh
P0315	c.1023_1026dup	p.Arg344fsX?	frameshift_variant	Novel	PAT	familial	2020	32865708		Sister	MDS	F	21	normal		EBV				shortness of breath on excercising
P0316	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	familial	2020	32488879	37406166	IV-4 / Family_40499.001	MDS, AML	F	19	monosomy 7	Low NK coun, low B cell cunt, monocytopenia						SETBP1
P0317	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	familial	2020	32488879		IV-6	symptomatic	M	25	NA	low NK count
P0318	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	familial	2020	32488879		III-2	symptomatic	F	59	NA	low NK count			Y
P0319	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	familial	2020	32488879		IV-1	symptomatic	F	NA	NA	monocytopenia, low B cell count, low CD8 T cell count, low NK count			Y
P0320	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	familial	2020	32488879		IV-2	symptomatic	M	18	NA
P0321	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	familial	2020	32488879		III-4	MDS	M	NA	normal	monocytopenia, low NK count, low CD4 T cell count, low B cell count
P0322	c.1341C>A	p.Ser447Arg	missense_variant	Novel	PAT	unknown	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	Novel	PAT	familial	2020	32556286		Patient 1	MDS	F	17	monosomy 7, trisomy 8
P0324	c.1017G>T	p.Leu339Leu (r.Ser340ValfsX48)	splice_donor_variant	Novel	PAT	familial	2020	32556286		Patient 2	MDS	F	42	trisomy 8
P0325	c.1061C>A	p.Thr354Lys	missense_variant	Novel	LPAT	familial	2020	32556286		Patient 3	MDS	F	22	normal			Y			pulmonary fibrosis
P0326	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	2020	32556286		Patient 4	MDS	F	32	normal		genital HPV, EBV
P0327	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2020	32556286		Patient 5	MDS	F	33	normal	panniculitis	HPV, HSV
P0328	c.1021del	p.Ala341ProfsX46	frameshift_variant	Novel	PAT	unknown	2020	32556286		Patient 6	MDS, Emberger-syndrome	M	13	normal		HPV
P0329	c.1150del	p.Arg384GlyfsX3	frameshift_variant	Novel	PAT	unknown	2020	32556286		Patient 7	MDS, mediastinal T cell lymphoma	M	14	normal	lupus pernio				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	Novel	LPAT	unknown	2020	32655615		AM01	AML	M	48	NA	fever						BCOR, CBL, CSF3R, EZH2, RUNX1
P0332	c.1072A>C	p.Thr358Pro	missense_variant	Novel	LPAT	unknown	2020	32655615		AM03	AML	M	58	NA	fever						BCOR, KIT
P0333	c.535A>T	p.Lys179X	stop_gained	Novel	PAT	familial	2020	32718260		16-year-old nonwhite boy	AML	M	16	NA		HPV
P0334	3.1-3.3 Mb het del encompassing GATA2	3.1-3.3 Mb het del encompassing GATA2	transcript_ablation	Novel	PAT	de novo	2017	29296959		BMF52	MDS-RCC, AML	M	12	monosomy 7							CRLF2
P0335	whole gene deletion	whole gene deletion	transcript_ablation	Novel	PAT	unknown	2017	29146883		UB101	MDS	M	19	normal
P0336	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	familial	2016	26748574		Patient 1	Emberger-syndrome, DCML deficiency, MDS-RCMD	M	13	normal	monocyte deficiency, B cell deficiency, dendritic cell deficiency, normal NK cell proportion, monocytopenia			Y	Y
P0337	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2016	26748574		Father of Patient 1	Emberger-syndrome, DCML deficiency, MDS-RCMD	M	38	del(7q), trisomy 8	monocyte deficiency, B cell deficiency, dendritic cell deficiency, normal NK cell proportion, monocytopenia				Y
P0338	uniallelic expression of GATA2	uniallelic expression of GATA2	transcript_ablation	Novel	PAT	unknown	2013	23502222	29156497, 24227816	29.I.1	MDS, AML	F	45	trisomy 8						PAP
P0339	c.610C>T	p.Arg204X	stop_gained	Novel	PAT	unknown	2019	31279773		19-year-old man	MDS, EBV-positive PBL	M	19	monosomy 7	fever, lymphocytopenia, monocytopenia, lupus-like syndrome	H1N1, rhinovirus, EBV	Y			respiratory dystress, left pleuritic chest pain	STAG2
P0340	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	unknown	2019	30933029		17-year-old male individual	MDS	M	17	NA
P0341	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2019	31322613		40-year-old man (father)	MDS	M	33	NA	monocytopenia, low B cell count, low NK cell count	anal condylomata, HPV	Y			PAP
P0342	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2019	31322613		10-year-old son	symptomatic	M	4	NA
P0343	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2019	31322613		18-year-old son	MDS	M	16	NA		herpers zoster
P0344	NA	p.Arg337ThrfsX45	frameshift_variant	Novel	LPAT	unknown	2020	32643807		Indian male	MDS	M	20	normal	neutropenic fever, monocytopenia, low B cell count, low NK count, low CD4+ T cell count, inverse CD4:CD8 ratio		Y	Y
P0345	c.1117_1119delinsGGG	p.Cys373Gly	inframe_insertion	Novel	LPAT	familial	2020	32682923		Family A III.1	MDS	M	19	trisomy 8	lymphopenia, monocytopenia, low B cell count, low T cell count, low NK count	verrucae		Y		bronchial hyperresponsiveness
P0346	c.1117_1119delinsGGG	p.Cys373Gly	inframe_insertion	Novel	LPAT	familial	2020	32682923		Family A III.2	symptomatic	F	16	normal	low NK count	verrucae
P0347	c.1117_1119delinsGGG	p.Cys373Gly	inframe_insertion	Novel	LPAT	familial	2020	32682923		Family A III.3	symptomatic	F	13	normal	low B cell count, low NK count, monocytopenia, erythema nodosum	verrucae
P0348	c.1117_1119delinsGGG	p.Cys373Gly	inframe_insertion	Novel	LPAT	familial	2020	32682923	36268026	Family A III.4 / P01	MDS	F	22	partial duplication of chromosome 1	fever, chronic interstitial pulmonary inflammation , low B cell count, low T cell count, low NK count, monocytopenia, erythema nodosum	verrucae				PAP, caugh, dyspnea, interstitial lung fibrosis
P0349	c.1117_1119delinsGGG	p.Cys373Gly	inframe_insertion	Novel	LPAT	familial	2020	32682923	36268026	Family A III.5 / P02	MDS-EB2, AML	M	22	monosomy 7, trisomy 8	low B cell count, low NK count, monocytopenia	verrucae		Y		persistent pneumothorax
P0350	c.1117_1119delinsGGG	p.Cys373Gly	inframe_insertion	Novel	LPAT	familial	2020	32682923		Family A II.3	MDS	M	53	trisomy 8	colitis ulcerosa, monocytopenia, lymphocytopenia, low B cell count, low T cell count, low NK count, , vasculitis	verrucae, recurrent viral infections, EBV, HSV				interstitial lung desease, dyspnea, lung infiltrates
P0351	c.1117_1119delinsGGG	p.Cys373Gly	inframe_insertion	Novel	LPAT	familial	2020	32682923		Family A II.2	symptomatic	F	52	normal	low B cell count, low T cell count, low NK count, monocytopenia, erythema nodosum	verrucae
P0352	c.1085G>A	p.Arg362Gln	missense_variant	Novel	PAT	unknown	2020	32682923		Family B I.1	symptomatic	M	67	NA	psoriasis
P0353	c.1085G>A	p.Arg362Gln	missense_variant	Novel	PAT	familial	2020	32682923		Family B II.2	symptomatic	F	43	NA
P0354	c.1085G>A	p.Arg362Gln	missense_variant	Novel	PAT	familial	2020	32682923		Family B II.3	symptomatic	M	39	NA
P0355	c.1085G>A	p.Arg362Gln	missense_variant	Novel	PAT	familial	2020	32682923		Family B III.1	AML, chloroma	M	18	NA							ASXL1
P0356	c.1085G>A	p.Arg362Gln	missense_variant	Novel	PAT	familial	2020	32682923		Family B III.2	AML	F	15	NA
P0357	5'UTR deletion	5'UTR deletion	transcript_ablation	Novel	PAT	unknown	2014	24077845		29	MDS	F	48	trisomy 8
P0358	c.857C>T	p.Ala286Val	frameshift_variant	Novel	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	Novel	PAT	unknown	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	Novel	PAT	unknown	2016	26702063	34469508	A044	MDS-RCC	F	12.4	der(1;7), +mar					Y
P0361	c.1018-11_1027del	p.?	splice_acceptor_variant	Novel	LPAT	unknown	2016	26702063		A056	MDS-RAEB	M	16.1	monosomy 7							ASXL1, SETBP1
P0362	c.1021del	p.Ala341ProfsX46	frameshift_variant	Novel	PAT	unknown	2025	40664679		A098	MDS-EB	M	12.7	monosomy 7							EZH2, SETBP1
P0363	c.968dup	p.His323GlnfsX61	frameshift_variant	Novel	LPAT	unknown	2016	26702063		B002	MDS-RCC (RAEB)	M	14.5	monosomy 7				Y			ASXL1, SETBP1
P0364	c.1046G>T	p.Cys349Phe	missense_variant	Novel	LPAT	de novo	2016	26702063		B032	MDS-RAEBt	F	12.7	monosomy 7						bronchial asthma	SETBP1
P0365	c.1066_1095del	p.Thr356_Asp365del	inframe_deletion	Novel	LPAT	de novo	2016	26702063		CZ041	MDS-RCC (RAEB)	M	15.7	monosomy 7
P0366	c.1035_1038dup	p.Thr347ArgfsX38	frameshift_variant	Novel	PAT	de novo	2016	26702063		CZ053	MDS-RAEB	M	4.4	monosomy 7		recurrent respiratory tract infections (not specified)					ASXL1, NF1, SETBP1
P0367	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2016	26702063		CZ054	MDS-RCC	M	16.9	monosomy 7
P0368	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	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	Novel	LPAT	familial	2016	26702063	34469508, 40664679	CZ061	MDS-RCC	M	17.5	normal (later monosomy 7)
P0370	c.222_229+6delins21	p.?	splice_region_variant	Novel	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	Novel	LPAT	unknown	2025	40664679		CZ101	MDS-RCC	M	12.2	monosomy 7		HPV		Y	Y		ASXL1, SETBP1
P0372	c.689_711dup	p.Thr238AlafsX4	frameshift_variant	Novel	PAT	familial	2025	40664679		CZ110	MDS-EB/AML	F	10.9	normal
P0373	c.689_711dup	p.Thr238AlafsX4	frameshift_variant	Novel	PAT	familial	2025	40664679		CZ121	MDS-RCC	F	14.7	monosomy 7 + add (trisomy 8)
P0374	c.627_630dup	p.Val211ArgfsX72	frameshift_variant	Novel	LPAT	unknown	2016	26702063	40664679	D076	MDS-RCC (RAEB)	M	12.5	monosomy 7							SETBP1, STAG2
P0375	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2016	26702063	40664679	D147	MDS-RCC (RAEB)	M	14.2	monosomy 7 + add							ASXL1
P0376	c.1113C>A	p.Asn371Lys	missense_variant	Novel	PAT	familial	2016	26702063	40664679	D151	MDS-RCC (MDR-AML)	F	16.0	trisomy 8 +add		recurrent respiratory tract infections (not specified)					STAG2
P0377	c.1054T>G	p.Cys352Gly	missense_variant	Novel	LPAT	unknown	2016	26702063	40664679	D184	MDS-RAEB (MDR-AML)	F	8.8	monosomy 7		HPV					ETV6, EZH2, SETBP1, SETBP1, TET2
P0378	c.1110C>G	p.Cys370Trp	missense_variant	Novel	VUS	unknown	2016	26702063	40664679	D245	MDS-RAEBt	M	8.7	monosomy 7			Y				IKZF1
P0379	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	familial	2016	26702063	40664679	D271	MDS-RAEB	M	12.5	monosomy 7							RPL10
P0380	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	familial	2016	26702063	40664679	D314	MDS-RAEB	F	10.7	monosomy 7 + add	arthritis						ASXL1, ASXL1, JAK2, SETBP1, WAS
P0381	c.416_417del	p.Ser139CysfsX45	frameshift_variant	Novel	PAT	familial	2016	26702063	40664679	D342	MDS-RCC	M	16.6	monosomy 7	ulcerative colitis
P0382	c.207_208del	p.Val70LeufsX114	frameshift_variant	Novel	PAT	unknown	2016	26702063	34469508, 40664679	D350	MDS-RAEB	M	11.0	der(1;7), trisomy 8		HPV		Y			RUNX1, EZH2
P0383	c.1341C>A	p.Ser447Arg	missense_variant	Novel	PAT	familial	2016	26702063	40664679	D415	MDS-RAEB	F	13.6	monosomy 7	B/NK-cell lymphopenia	recurrent upper respiratory tract infections, herpes labialis					ASXL1, RUNX1, SETBP1
P0384	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	unknown	2016	26702063	40664679	D418	MDS-RAEBt	M	7.3	monosomy 7						bronchial asthma	RUNX1
P0385	del3q21.2–21.3 (3.6Mb)	del3q21.2–21.3 (3.6Mb)	transcript_ablation	Novel	PAT	unknown	2016	26702063	40664679	D420	MDS-RCC/RAEB-t	F	15.0	monosomy 7	Hashimoto thyroiditis			Y
P0386	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2016	26702063	28642594, 40664679	D427	MDS-RAEB	F	12.9	monosomy 7 + add	allergy, eosinophilia, elevated IgE						RUNX1
P0387	c.599del	p.Gly200ValfsX18	frameshift_variant	Novel	PAT	unknown	2016	26702063	40664679	D429	MDS-RCC	F	16.3	normal							STAG2
P0388	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2016	26702063	40664679	D479	MDS-RCC	F	16.8	normal	hypogammaglobulinemia, Low IgG, low IgA						ASXL1
P0389	c.1017+1del	p.?	splice_donor_variant	Novel	LPAT	unknown	2016	26702063	40664679	D492	MDS-RCC (RAEB)	M	17.4	monosomy 7		gastroenteritis (not classified)
P0390	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	unknown	2025	40664679		D522	MDR-AML	F	11.7	monosomy 7 + add
P0391	c.1031_1049del	p.Arg344LysfsX37	frameshift_variant	Novel	PAT	de novo	2016	26702063	40664679	D569	MDS-RCC	F	10.3	normal	B/NK-cell lymphopenia	HPV			Y	bronchial asthma
P0392	c.1017+532T>A	p.=	regulatory_region_variant	Novel	VUS	unknown	2016	26702063	40664679	D609	MDS-RCC	M	3.1	normal		upper respiratory tract infection				respiratory distress (not specified)
P0393	c.685del	p.Leu229CysfsX5	frameshift_variant	Novel	LPAT	unknown	2016	26702063	40664679	D612	MDS-RCC	M	7.5	monosomy 7		recurrent upper respiratory tract infections				bronchial asthma, stridor	SETBP1
P0394	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	2016	26702063	28642594, 40664679	D621	MDS-RCC	M	15.9	monosomy 7	inverted CD4/CD8 ratio, hypogammaglobulinemia, Low IgA, inverted CD4/8 ratio, B-cell lymphopenia
P0395	c.1018-10_1037del	p.?	splice_acceptor_variant	Novel	PAT	familial	2016	26702063	40664679	D680	MDS-RCC	M	12.1	monosomy 7	inverted CD4/CD8 ratio, inverted CD4/8 ratio, B-cell lymphopenia	HPV					SETBP1, STAG2
P0396	c.981G>A	p.Gly327Gly	synonymous_variant	Novel	VUS	unknown	2023	38067298	40664679	D722	MDS-RCC	M	10.7	normal
P0397	c.303del	p.Ala103GlnfsX16	frameshift_variant	Novel	PAT	de novo	2016	26702063	40664679	D726	MDS-RAEB	F	9.6	monosomy 7		EBV, recurrent oral aphthae					ASXL1, ASXL1, SETBP1, WAS
P0398	c.306del	p.Ala103GlnfsX17	frameshift_variant	Novel	LPAT	unknown	2016	26702063	40664679	D731	MDS-EB	F	5.2	monosomy 7 + add	inverted CD4/CD8 ratio, inverted CD4/8 ratio, B-cell lymphopenia	recurrent upper respiratory tract infections				bronchial asthma	SETBP1
P0399	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	unknown	2020	32555368	40664679	D749	MDS-EB	F	14.2	monosomy 7							ASXL1, KMT2C, KRAS
P0400	c.1113C>G	p.Asn371Lys	missense_variant	Novel	PAT	unknown	2016	26702063	40664679	D762	MDS-RAEBt	M	9.7	monosomy 7						dyspnea	KRAS, STAG2
P0401	c.599del	p.Gly200ValfsX18	frameshift_variant	Novel	PAT	unknown	2016	26702063	38067298, 40664679	D770	MDS-RAEB	F	10.2	monosomy 7 + add	suspected autoimmune disease (+ANA, SMA, SP100 antibodies)	prolonged viral infections					ASXL1, ASXL1, CBL, MYB, SETBP1
P0402	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2016	26702063	40664679	D794	MDS-RCC (RAEB)	F	6.1	monosomy 7 + add	recurrent fever	recurrent oral aphthae
P0403	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	familial	2016	26702063	38067298, 34469508, 28642594, 40664679	D801	MDS-RCC	M	15.6	normal (later monosomy 7)	inverted CD4/CD8 ratio, hypogammaglobulinemia, Low IgG, low IgA, T-/B-/NK-lymphopenia, inverted CD4/8 ratio				Y		KRAS
P0404	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	familial	2025	40664679		sister of D801	AML	F	16.9	trisomy 8	inverted CD4/CD8 ratio, hypogammaglobulinemia, Low IgG, inverted CD4/8 ratio, no B cells, low T cells						STAG2
P0405	c.1018-10_1037del	p.?	splice_acceptor_variant	Novel	PAT	familial	2016	26702063	38067298, 40664679	D807	MDS-RCC	M	13.7	normal		HPV
P0406	c.932_937delinsG	p.Thr311ArgfsX71	frameshift_variant	Novel	LPAT	unknown	2016	26702063	40664679	D907	MDS-RAEB (MDR-AML)	F	7.5	monosomy 7		adenovirus
P0407	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	familial	2016	26702063	40664679	D955	MDS-RAEBt	F	11.4	monosomy 7							SETBP1
P0408	c.1017+582G>T	p.=	regulatory_region_variant	Novel	VUS	familial	2016	26702063	40664679	D983	MDS-RCC	M	13.4	normal
P0409	c.1128C>G	p.Tyr376X	stop_gained	Novel	PAT	de novo	2016	26702063	38067298, 40664679	D1010	MDS-RCC	M	12.7	normal	hypogammaglobulinemia, B/NK-cell lymphopenia, monocytopenia, Low IgG	Varicella after vaccination		Y	Y
P0410	c.1113C>A	p.Asn371Lys	missense_variant	Novel	PAT	familial	2016	26702063	38067298, 40664679	D1064	MDS-EB	F	6.5	monosomy 7
P0411	c.1143+1G>A	p.?	splice_donor_variant	Novel	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	Novel	PAT	unknown	2016	26702063	38067298, 40664679	D1119	MDS-RCC	F	15.1	trisomy 8	juvenile idiopathic arthritis, panniculitis	HPV, recurrent upper respiratory tract infections
P0413	c.1045T>A	p.Cys349Ser	missense_variant	Novel	LPAT	familial	2016	26702063	38067298, 40664679	D1140	MDS-RCC	M	10.2	normal (trisomy 8 in 2016)	inverted CD4/CD8 ratio, Low CD4/CD8, B-lymphopenia, erythema nodosum
P0414	c.1045T>A	p.Cys349Ser	missense_variant	Novel	LPAT	familial	2016	26702063	38067298, 40664679	D1141	MDS-RCC	M	16.3	normal	inverted CD4/CD8 ratio, Low CD4/CD8, B-lymphopenia						STAG2
P0415	c.1045T>A	p.Cys349Ser	missense_variant	Novel	LPAT	familial	2025	40664679		brother of D 1140 & D 1141	NK-lymphopenia	M	6.5	normal	NK-lymphopenia, low ratio of transitional and naive B-cells, low plasmocytoid DC
P0416	c.1023C>T	p.Ala341Ala	synonymous_variant	2.029E-05	VUS	unknown	2020	32555368	40664679	D1142	MDS-RCC	M	11.6	monosomy 7							SAMD9
P0417	c.1037_1046del	p.Gly346ValfsX38	frameshift_variant	Novel	PAT	familial	2023	38067298	40664679	D 1144	MDS-RCC	F	12.1	normal (trisomy 8 in 2015)	autoimmune cytopenia (ANA+)	HPV, recurrent oral aphthae		Y	Y
P0418	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2025	40664679		D 1238	MDS-RCC	M	7.5	monosomy 7, add(tris8)
P0419	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	familial	2020	32555368	38067298, 38993648, 40664679	D 1239 / Case 1	MDS-RCC	F	12.4	monosomy 7	hypogammaglobulinemia, no mDCs, no pDCs, B-lymphopenia, reduced transitional and naive B-cells, monocytopenia, low IgG count, arthritis, bursitis, tendosynovitis			Y		chronic caugh
P0420	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	familial	2020	32555368	40664679	sister of D 1239	B/NK-cell lymphopenia	F	10.7	NA	hypogammaglobulinemia, mild hypogammaglobunemia, B/NK-cell lymphopenia
P0421	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	unknown	2025	40664679		CCI: mother of P61 & P62	immunodeficiency, lung disease	F	48.0	normal	inverted CD4/CD8 ratio, B/NK-cell lymphopenia, reduced naive and transitional B-cells, low CD4+ cells, monocytopenia, reduced dendritic cells, elevated complement turnoover (Cd3 elevated)	HPV, hepatitis C, Bronchitis	Y			PAP, ARDS
P0422	c.371del	p.Thr124SerfsX94	frameshift_variant	Novel	LPAT	unknown	2025	40664679		D1246	MDS-EB	F	16.4	normal
P0423	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	unknown	2023	38067298	40664679	D1302	MDS-EB	M	14.6	monosomy 7							ASXL1, ETV6, ETV6, PTPN11, SETBP1
P0424	c.303del	p.Ala103GlnfsX16	frameshift_variant	Novel	PAT	unknown	2023	38067298	40664679	D1319	MDR-AML	F	16.3	monosomy 7, add(tris13)							GATA1, WT1
P0425	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2025	40664679		D1353	MDR-AML	F	9.8	monosomy 7
P0426	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	familial	2025	40664679		D1370	MDS-RCC	F	17.4	trisomy 8		EBV					STAG2, STAG2
P0427	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2023	38067298	40664679	D1372	MDS-RCC	F	9.9	normal		connatal CMV infection			Y		STAT3
P0428	c.1109G>T	p.Cys370Phe	missense_variant	Novel	VUS	unknown	2023	38067298	38993648, 40664679	D1428 / Case 3	MDS-RCC	M	17.0	trisomy 8	hypogammaglobulinemia, hypogammaglobulinemia, B-/NK-cell deficiency	HPV, recurrent herpes labialis
P0429	c.341del	p.Asp114ThrfsX5	frameshift_variant	Novel	LPAT	unknown	2023	38067298	40664679	D1443	MDS-RCC	M	9.9	monosomy 7		HPV
P0430	whole gene deletion	whole gene deletion	transcript_ablation	Novel	PAT	unknown	2025	40664679		D1483	MDS-RCC	F	18.3	trisomy 8	inverted CD4/CD8 ratio, B/NK/T-lymphopenia, low CD4/CD8 ratio, erythema nodosum	recurrent respiratory infections (not specified)					STAG2
P0431	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	unknown	2025	40664679		D1500	MDS-RCC	M	16.1	normal
P0432	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2023	38067298	40664679	D1504	MDS-RCC	M	3.9	monosomy 7				Y	Y
P0433	c.416_417del	p.Ser139CysfsX45	frameshift_variant	Novel	PAT	unknown	2023	38067298	40664679	D1521	MDS-EB/ MDR-AML	M	12.7	monosomy 7, add(t(5;12))						bronchial asthma	CSF3R, SETBP1
P0434	c.1143+1G>A	p.?	splice_donor_variant	Novel	PAT	unknown	2025	40664679		D1531	MDS-RCC	M	13.6	normal		HPV
P0435	c.448G>T	p.Gly150X	stop_gained	Novel	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	Novel	PAT	familial	2025	40664679		D1543	MDS-RCC	M	6.9	normal
P0437	c.1055G>A	p.Cys352Tyr	missense_variant	Novel	LPAT	unknown	2025	40664679		D1554	MDS/MPN	F	4.7	monosomy 7							ASXL1, KRAS, RUNX1, SETBP1
P0438	c.1243G>A	p.Glu415Lys	missense_variant	Novel	VUS	unknown	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	Novel	PAT	familial	2025	40664679		DK099	MDS-EB	F	10.9	monosomy 7
P0440	c.802G>T	p.Gly268X	stop_gained	Novel	PAT	familial	2016	26702063	40664679	I112	MDS-RAEB	F	17.1	trisomy 8
P0441	c.1018-2A>T	p.?	splice_acceptor_variant	Novel	PAT	unknown	2016	26702063	40664679	I126	MDS-RCC (RAEB)	F	5.1	monosomy 7							ASXL1, SETBP1
P0442	c.970_994dup	p.Leu332GlufsX60	frameshift_variant	Novel	PAT	familial	2016	26702063	40664679	I198	MDS-RCC	M	18.6	monosomy 7							ASXL1, EZH2
P0443	c.1124del	p.Leu375ProfsX12	frameshift_variant	Novel	PAT	de novo	2016	26702063	40664679	I199	MDS-RAEBt	M	7.8	monosomy 7	B-lymphopenia				Y		ASXL1, IKZF1, PHF6
P0444	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	unknown	2016	26702063	40664679	I301	MDS-EB	M	10.7	monosomy 7	B-lymphopenia, vasculitis	VZV		Y			SETBP1
P0445	c.161C>A	p.Ser54X	stop_gained	Novel	PAT	unknown	2016	26702063	38067298, 40664679	I305	MDS-RAEBt, AML	M	18.1	monosomy 7
P0446	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2016	26702063	38067298, 40664679	I306	MDS-RCC	M	14.3	normal
P0447	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	de novo	2023	38067298	40664679	I309	MDS-RCC	M	17.3	normal	secondary immunodeficiency (deficiency of early phases of maturation of B, T and NK lymphocytes in PB. In bone marrow deficiency of CD34+ precursors with presence of more mature cells - B lymphocytes and plasma cells)	VZV complicated by DIC/ pneumonia/ hepatitis					STAG2
P0448	c.414_417del	p.Ser139CysfsX78	frameshift_variant	Novel	PAT	de novo	2016	29906059	40664679, 38067298, 37837580	I312 / Patient 1 (P14)	MDS-RCC, Emberger-syndrome	M	10.9	trisomy 1	inverted CD4/CD8 ratio, leukopenia, neutropenia, monocytopenia	viral infection		Y
P0449	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2025	40664679		I359	MDS-RCC	F	15.9	normal					Y		SETBP1
P0450	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2025	40664679		I390	MDS-EB	F	16.4	monosomy 7		upper respiratory airway infection					ASXL1, CSF3R, RUNX1, SETBP1
P0451	c.1215G>T	p.Lys405Asn	missense_variant	Novel	VUS	familial	2023	38067298	40664679	I391	MDS-RCC	M	8.2	normal		recurrent respiratory tract infections (not specified)				bronchial asthma (wheezing, respiratory allergies)
P0452	c.380_383dup	p.Ser129ProfsX57	frameshift_variant	Novel	LPAT	unknown	2023	37837580	40664679, 39976744	I392 / 2	MDS-RCC	F	18.3	normal	inverted CD4/CD8 ratio, leukopenia, neutropenia, monocytopenia	recurrent oral aphthae					ASXL1
P0453	c.1341C>A	p.Ser447Arg	missense_variant	Novel	PAT	unknown	2016	26702063	40664679	NL097	MDS-RCC/RAEB-t	M	12.9	monosomy 7							ASXL1, BCOR, EZH2
P0454	c.1168A>G	p.Lys390Glu	missense_variant	Novel	VUS	unknown	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	Novel	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	Novel	LPAT	familial	2016	26702063	40664679	NL134	MDS-RCC	F	15.3	trisomy 8							RUNX1
P0457	c.1069A>G	p.Thr357Ala	missense_variant	Novel	LPAT	familial	2025	40664679		NL_6592	MDS-RCC	F	>18	trisomy 8
P0458	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	de novo	2025	40664679		NO024 (old SC177)	MDS-RCC	F	16.7	normal	inverted CD4/CD8 ratio, low B-/NK cells, CD4/8 ratio 0.8	HPV					STAG2
P0459	c.1098_1100del	p.Asp367del	inframe_deletion	Novel	LPAT	unknown	2025	40664679		NO030 (old SC220)	MDS-RCC	F	14.7	monosomy 7, add(tris8)
P0460	c.1021_1024dup	p.Ala342GlyfsX43	frameshift_variant	Novel	PAT	de novo	2022	34893945	40664679	NO039 / Patient 13	MDS-RCC	M	11.9	monosomy 7		HPV	Y			asthma	ASXL1, SETBP1
P0461	c.1009C>T	p.Arg337X	stop_gained	Novel	PAT	de novo	2016	26702063	40664679	PL027	MDS-RCC	M	14.9	monosomy 7							SETBP1
P0462	c.58C>T	p.Gln20X	stop_gained	Novel	PAT	unknown	2025	40664679		PL073	MDS-RCC	F	15.7	monosomy 7							NRAS, SETBP1
P0463	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	de novo	2016	26702063	40664679	SE053 (old SC152)	MDS-RAEB	F	12.2	monosomy 7						interstitial process in the lung (suspescted PAP)	ASXL1, CBL, SETBP1
P0464	c.348G>A	p.Trp116X	stop_gained	Novel	LPAT	unknown	2025	40664679		SE075 (old SC216)	MDS-EB	M	7.2	monosomy 7		recurrent respiratory tract infections (not specified)				bronchial asthma	ETV6, EZH2, RUNX1, RUNX1
P0465	c.982C>T	p.Gln328X	stop_gained	Novel	PAT	unknown	2025	40664679		No ID_2	MDS-RCC	F	8.9	monosomy 7							SETBP1, SETP1, WT1
P0466	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	familial	2025	40664679		No ID_3	MDS-RCC	M	15.4	normal	hypogammaglobulinemia, CVID, B-/NK-lymphopenia, hypogammaglobulinemia	HPV
P0468	c.1154C>T	p.Pro385Gln	missense_variant	Novel	LPAT	unknown	2025	40664679		father of No ID_6	B/NK-lymphopenia	M	46.5	NA	B-/-NK-lymphopenia, decreased transitional B-lymphocytes
P0469	c.1009C>T	p.Arg337X	stop_gained	Novel	PAT	unknown	2025	40664679		No ID_7	MDS-EB	F	11.0	monosomy 7				Y
P0470	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	unknown	2025	40664679		No ID_8	MDS-EB	F	15.1	monosomy 7
P0471	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2025	40664679		No ID_9	MDS-RCC	F	15.0	monosomy 7
P0472	c.1078T>C	p.Trp360Arg	missense_variant	Novel	PAT	unknown	2025	40664679		No ID_10	MDS-EB	M	17.5	trisomy 8		HPV		Y
P0473	c.1017+526_1017+540delinsA	p.=	regulatory_region_variant	Novel	VUS	de novo	2025	40664679		No ID_13	AML	F	16.2	normal	inverted CD4/CD8 ratio, low CD4 cells
P0474	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	de novo	2025	40664679		No ID_14	Immunodeficiency	F	11.2	normal	hypogammaglobulinemia, low IgG (hypogammaglobulinemia),low B-/NK-cells	upper respiratory tract infection
P0475	c.202del	p.Ala68ArgfsX12	frameshift_variant	Novel	LPAT	unknown	2025	40664679		No ID_15	MDS-EB	M	13.2	monosomy 7		upper respiratory tract infection			Y		JAK3, PTPN11, NRAS
P0476	c.980G>C	p.Gly327Ala	missense_variant	Novel	VUS	unknown	2025	40664679		No ID_21	MDR-AML	M	13.7	trisomy 8	fever, night sweats				Y
P0477	c.1084C>T	p.Arg362X	stop_gained	Novel	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	Novel	PAT	unknown	2025	40664679		No ID_28	MDS-EB	F	11.7	monosomy 7 (del7q?)		HPV			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	Novel	PAT	unknown	2025	40664679		No ID_34	MDS-RCC	F	8.1	monosomy 7/tris8	B-lymphopenia	plantar HPV				bronchiectasis, tracheomalacia, reduced lung function
P0481	c.1187G>T	p.Arg396Leu	missense_variant	Novel	PAT	familial	2023	36815365	40664679	816 / P7	MDS-MLD	M	30.0	NA	inverted CD4/CD8 ratio, B-/NK-lymphopenia, monocytopenia, low Tregs	viral pneumonia, mild recurrent respiratory tract infections				ARDS (due to pneumonia)	STAG2, ELANE
P0482	c.1187G>T	p.Arg396Leu	missense_variant	Novel	PAT	familial	2023	36815365	40664679	NA / P20	MDS-RCC	M	14.0	NA	low B cell count, monocytopenia					ARDS
P0483	c.1187G>T	p.Arg396Leu	missense_variant	Novel	PAT	familial	2023	36815365	40664679	3419 / P8	SLE-like syndrome, immunodeficiency	F	15.0	NA	low B, NK cell counts, monocytopenia, SLE-like syndrome	genital herpes, CMV infection				focal pulmonary alveolar proteinosis (PAP), interstitial fibrosis and infiltrates	ASXL1
P0484	c.1036_1037insTCTGGCC	p.Gly346SerfsX40	frameshift_variant	Novel	LPAT	unknown	2023	36815365	40664679	6795 / P9	secondary HLH	M	24.0	NA	low B, NK cells		Y				CSMD1
P0485	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2023	36815365	40664679	1010083 / P4	deduced MDS	F	37.0	NA	low B, NK cell count, monocytopenia	refractory genital HPV				chronic obstructive pulmonary disease	STAG2, ATRX, TCF3, MSH2, SMC1A
P0486	c.1163T>C	p.Met388Thr	missense_variant	Novel	LPAT	familial	2023	36815365	40664679	1700220 / P1	MDS-RCC	M	8.0	monosomy 7		persistant molluscum
P0487	c.1132A>T	p.Lys378X	stop_gained	Novel	PAT	unknown	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	Novel	PAT	unknown	2023	36815365	40664679	180138 / P2	MDS-MLD	M	18.0	normal	inverted CD4/CD8 ratio, low B cell count, monocytopenia	HPV		Y	Y
P0489	c.818del	p.Gly273AspfsX53	frameshift_variant	Novel	PAT	unknown	2023	36815365	40664679	134938 / P5	MDS-MLD	F	51.0	normal	monocytopenia						KRAS, PIGA, JAK2
P0490	c.782G>C	p.Ser261Thr	missense_variant	Novel	VUS	unknown	2023	36815365	40664679	131103 / P6	AML	F	75.0	trisomy 8	monocytopenia						CSMD1, RUNX1, IDH2, CBLB
P0491	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2016	26702063	40664679	16601834 / P11	MDS-MLD	M	45.0	monosomy 7	lack of monocytes and NK cells, B cell count low, erythema nodosum	influenca A and B, recurrent lower respiratory infections					SETBP1
P0492	c.913C>G	p.Leu305Val	missense_variant	Novel	VUS	unknown	2023	36815365	40664679	15414113 / P10	MDS-MLD	F	59.0	normal	B, NK cell counts low, Neutrophilic dermatosis	Influenza A	Y			Chronic respiratory insufficiency	SETBP1, EP300, SRSF2
P0493	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2016	26702063	40664679	15252685 / P12	MDS-MLD	M	32.0	trisomy 8	NK-lymphopenia	HPV, CMV, EBV	Y				STAG2
P0494	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2022	35273927	40664679	No ID_36 / 1	MDS <5%	F	14.9	normal	inverted CD4/CD8 ratio	recurrent bronchitis
P0495	c.1033_1060del	p.Ala345ArgfsX33	frameshift_variant	Novel	LPAT	unknown	2022	35273927	40664679	No ID_37 / 2	MDS <5%	F	10.1	normal	inverted CD4/CD8 ratio, B/NK-lymphopenia	recurrent otitis and bronchitis, fatal varicella encephalitis			Y
P0496	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	unknown	2022	35273927	40664679	No ID_38 / 3	MDS <5%	M	17.6	trisomy 8	B/T/NK-lymphopenia
P0497	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	unknown	2022	35273927	40664679	No ID_39 / 4	MDS <5%	F	2.8	monosomy 7				Y
P0498	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2022	35273927	40664679	No ID_40 / 5	MDS <5%	M	10.0	monosomy 7	inverted CD4/CD8 ratio, B/T/NK-lymphopenia	recurrent tonsillitis and bronchitis		Y
P0499	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2022	35273927	40664679	No ID_41 / 6	MDS <5%	M	8.7	monosomy 7	B-lymphopenia
P0500	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2022	35273927	40664679	No ID_42 / 7	MDS <5%	F	10.7	normal		recurrent bronchitis, CMV-, EBV-viremia
P0501	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2022	35273927	40664679	No ID_43 / 8	MDS <5%	M	7.8	monosomy 7		recurrent bronchitis
P0502	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2022	35273927	40664679	No ID_44 / 9	MDS <5%	M	10.0	normal	inverted CD4/CD8 ratio, B/T/NK-lymphopenia	recurrent bronchitis, HPV
P0503	c.1144-2A>C	p.?	splice_acceptor_variant	Novel	LPAT	unknown	2022	35273927	40664679	No ID_45 / 10	MDS <5%	M	12.5	NA	inverted CD4/CD8 ratio, B/NK-lymphopenia	recurrent bronchitis and otitis			Y
P0504	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	unknown	2020	32555368	40664679	A2604 / P9 (UKA2604)	MDS-MLD	F	24.0	normal	no DC, monocytopenia, B-/NK-cell lymphopenia, Crohn’s colitis	HPV	Y
P0505	c.1046G>A	p.Cys349Tyr	missense_variant	Novel	PAT	familial	2025	40664679		No ID_1	MDS-RCC	F	21.4	trisomy 8	vasculitis	oral apthae, gingivitis		Y
P0506	c.207_208del	p.Val70LeufsX114	frameshift_variant	Novel	PAT	unknown	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	Novel	LPAT	unknown	2025	40664679		No ID_24	MDS	M	27.0	monosomy 7 (del7q?)
P0508	c.494A>G	p.His165Arg	missense_variant	Novel	VUS	unknown	2025	40664679		No ID_16	MDS-EB	F	32.0	normal
P0509	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2025	40664679		No ID_18	MDS-MLD	F	18.2	monosomy 7 + add? (trisomy 8)
P0510	c.982C>T	p.Gln328X	stop_gained	Novel	PAT	unknown	2025	40664679		CCI-1	MDS-MLD	M	23.9	monosomy 7	inverted CD4/CD8 ratio, low CD4, later monocytopenia, low B-/NK-cells, Sarcoidosis-like presentation, pulmonary vasculitis	HPV, HSV infection, oral aphthae	Y
P0511	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2025	40664679		CCI-2	MDS-MLD	M	24.7	normal	low B-/NK-cells (lack of transitional B cells), no DC cells, sweet syndrome	HPV, CMV infection,pharyngitis			Y
P0512	c.1116_1117del	p.Cys373TrpfsX10	frameshift_variant	Novel	PAT	unknown	2025	40664679		CCI-3	MDS >5% blasts	F	35.2	del(5q)	hypersensivity associated vasculitis of the lower limbs, severe local reaction after hepatitis A vaccination, recurrent arthritis	HPV					STAG2
P0513	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2025	40664679		CCI-4	neutropenia, hypocellular BM	F	36.0	trisomy 8	B-/NK-lymphopenia						DNMT3A, TP53
P0514	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2025	40664679		CCI-5	MDS-MLD	M	42.7	monosomy 7	B-lymphopenia	H1N1					STAG2
P0515	c.1180C>T	p.Gln394X	stop_gained	Novel	PAT	unknown	2025	40664679		CCI-6	MDS-MLD	F	46.2	trisomy 8	T-/B-/NK-lymphopenia	HPV, bronchitis (not specified), chronic sinusitis	Y	Y	Y		STAG2
P0516	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	unknown	2025	40664679		CCI-7	MDS-MLD	F	38.0	normal	erythema nodosum		Y	Y		COP, pulmonary hypertension, severe respiratory insufficiency, severe diffusion disturbance, restrictive ventilatory, primary fibrotic alterations of lung parenchyma, dry coughing attacks	ASXL1
P0517	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2025	40664679		CCI-CZ1	MDS-MLD	F	18.8	del(5q)	B-lymphopenia	recurrent herpes infections, upper respiratory tract infection (not specified)				bronchial asthma
P0518	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	familial	2025	40664679		CCI-CZ2	MDS-MLD	M	20.0	monosomy 7		chronic active EBV				interstitial lung disease (not specified)	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	Novel	LPAT	unknown	2025	40664679		father of CZ054	asymptomatic	M	NA	NA
P0521	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2025	40664679		father of CZ061	asymptomatic	M	NA	NA
P0522	c.1017+582G>T	p.=	regulatory_region_variant	Novel	VUS	familial	2025	40664679		nephew of D 983	asymptomatic	M	NA	NA
P0523	c.1017+582G>T	p.=	regulatory_region_variant	Novel	VUS	familial	2025	40664679		brother of D 983	asymptomatic	M	NA	NA
P0524	c.1017+582G>T	p.=	regulatory_region_variant	Novel	VUS	familial	2025	40664679		father of D 983	asymptomatic	M	NA	NA
P0525	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2025	40664679		father of D 1372	asymptomatic	M	NA	NA
P0526	c.1215G>T	p.Lys405Asn	missense_variant	Novel	VUS	unknown	2025	40664679		mother of I 391	asymptomatic	F	NA	NA
P0527	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2025	40664679		mother of I 390	symptomatic	F	NA	NA
P0528	c.1046G>A	p.Cys349Tyr	missense_variant	Novel	PAT	unknown	2025	40664679		father of No ID_1	asymptomatic	M	NA	NA
P0529	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	unknown	2025	40664679		father of CCI-CZ2	symptomatic	M	NA	NA	B-lymphopenia (reduced naive B cells), ankylosing spondylitis
P0530	c.1051A>G	p.Asn351Asp	missense_variant	Novel	VUS	unknown	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	fever, hypergammaglobulinemia, lymphopenia, monocytopenia, low B, NK cell count, granulomatous panuveitis and bilateral erythematous plaques on the legs confirmed to be leukocytoclastic vasculitis, myocarditis	EBV				PAP, dyspnea
P0531	c.140_177delinsGCCTCCTCAATCACCTCGACTCGCAGGGCAACCCCTAG	p.Val47_Gly48delinsGlyLeuLeuAsnHisLeuAspSerGlyGlyAsnPro delinsGLL;Y59X	inframe_insertion	Novel	VUS	familial	2018	29724903	36727400	P1* / 28	MDS	NA	22	trisomy 8		genital HPV					STAG2, ASXL1, CEBPA, ETV6
P0532	c.229+13_229+14insGCC	p.?	splice_region_variant	Novel	VUS	familial	2018	29724903		P2 (brother)	MDS	M	21	monosomy 7, trisomy 1, der(1;7)(q10;p10), del(20)(q12)		cutaneous and genital HPV, labial HSV	Y
P0533	c.229+13_229+14insGCC	p.?	splice_region_variant	Novel	VUS	familial	2018	29724903		P2 (sister)	MDS	F	18	monosomy 7 with complex
P0534	c.317_318del	p.Ser106CysfsX78	frameshift_variant	Novel	LPAT	unknown	2018	29724903	36727400	P3* / 54	immunodeficiency, hematological malignancy	F	29	normal	psoriatic arthritis		Y			PAP	ASXL1, STAG2, STAG2
P0535	c.353del	p.Val118GlyfsX100	frameshift_variant	Novel	LPAT	unknown	2018	29724903		P4*	MDS	NA	11	monosomy 7
P0536	c.423C>A	p.Tyr141X	stop_gained	Novel	PAT	unknown	2018	29724903		P5*	MDS	NA	13	monosomy 7		genital HPV, Herpes varicella Zoster infection
P0537	c.437del	p.Gly146ValfsX72	frameshift_variant	Novel	PAT	unknown	2018	29724903		P6 (father)	MDS	M	26	NA			Y
P0538	c.538G>T	p.Glu180X	stop_gained	Novel	LPAT	unknown	2018	29724903		P7*	MDS	NA	20	normal		cutaneous HPV
P0539	c.610C>T	p.Arg204X	stop_gained	Novel	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)	HLH	EBV infection, cutaneous HPV, Zoster, CMV (hemophagocytic syndrome)	Y
P0540	c.670G>T	p.Glu224X	stop_gained	Novel	PAT	familial	2013	23223431	29724903	P9*	MDS	NA	10	normal		cutaneous and genital HPV
P0541	c.890A>G	p.Asn297Ser	missense_variant	Novel	VUS	unknown	2018	29724903		P10*	MDS, AML-M0	NA	22	inversion 3
P0542	c.915_916del	p.Trp306AlafsX77	frameshift_variant	Novel	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		viral meningitis, skin HSV
P0544	c.941_951del	p.Tyr314CysfsX66	frameshift_variant	Novel	PAT	familial	2018	29724903		P13*	MDS	NA	18	monosomy 7		flu infection
P0545	c.944T>C	p.Leu315Phe	missense_variant	Novel	VUS	unknown	2018	29724903	26710799	P14*/ 3 (5964)	symptomatic	NA	1	NA
P0546	c.1020_1029dup	p.Arg344GlyfsX43	frameshift_variant	Novel	PAT	unknown	2018	29724903	36727400	P18* / 49	MDS, congenital malformations	F	23	normal				Y		PAP	BCOR, STAG2
P0547	c.1023dup	p.Ala342ArgfsX42	frameshift_variant	Novel	LPAT	unknown	2018	29724903	36727400	P20* / 58	immunodeficiency, hematological malignancy	F	18	normal		genital and cutaneous HPV	Y	Y			STAG2
P0548	c.1045T>C	p.Cys349Arg	missense_variant	Novel	LPAT	de novo	2018	29724903		P21*	MDS	NA	20	der(3)t, dic(1;3)(p11; p25)	erythema nodosum	cutaneous HPV, viral meningitis, oral HSV	Y
P0549	c.1009C>T	p.Arg337X	stop_gained	Novel	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	Novel	LPAT	unknown	2011	21892158		Emb-04 I-1	MDS	M	11	NA				Y	Y
P0551	c.1018-3_1031del	p.Ala341ArgfsX38	frameshift_variant	Novel	LPAT	unknown	2011	21892158		Emb-05 I-1	symptomatic	F	NA	NA	low CD4/CD8 ratio	cutaneous HPV			Y
P0552	c.1117T>C	p.Cys373Arg	missense_variant	Novel	LPAT	de novo	2011	21892158		Emb-06 I-1	MDS	M	16	NA		persistent HPV on fingers
P0553	c.1082G>C	p.Arg361Leu	missense_variant	Novel	LPAT	familial	2011	21892158	37406166	Emb-07 I-1 / Family_52_2	MDS	M	10	NA	low CD4/CD8 ratio	cutaneous HPV		Y	Y		EP300, STAG2
P0554	c.579_580insA	p.Ala194SerfsX8	frameshift_variant	Novel	PAT	de novo	2011	21892158		Emb-08 I-1	AML	M	12	NA				Y
P0555	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	de novo	2016	27013649	28642594	UPN2	immunodeficiency, RCC	F	21	trisomy 8	low B cell count	skin HPV, aphtous stomatitis				bronchial asthma
P0556	c.391_395del	p.?	frameshift_variant	Novel	PAT	de novo	2016	27013649		UPN3 RCC	MDS-RCC	NA	12	monosomy 7				Y	Y
P0557	c.1017+572C>T	p.=	regulatory_region_variant	Novel	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	Novel	LPAT	de novo	2016	27013649		UPN10 RCC/RAEB-t	MDS-RCC/RAEBt	NA	16	monosomy 7
P0559	c.1035_1038dup	p.Thr347ArgfsX38	frameshift_variant	Novel	PAT	de novo	2016	27013649		UPN11 RAEB	MDS-RAEB	NA	4.4	monosomy 7		aphtous stomatitis				bronchial asthma
P0560	c.1128C>G	p.Tyr376X	stop_gained	Novel	PAT	de novo	2016	27013649		UPN12 ID/RCC	MDS-RCC	NA	13	normal				Y	Y
P0561	c.1114G>A	p.Ala372Thr	missense_variant	Novel	LPAT	unknown	2014	24345756		10.I.1	symptomatic	NA	22	NA		HPV infection				respiratory symptoms
P0562	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	2014	24345756	28642594	5.I.1	MDS, DCML	NA	40	NA	autoimmunity	HPV	Y
P0563	c.257_258del	p.Cys85fsX?	frameshift_variant	Novel	PAT	unknown	2014	24345756		11.I.1	symptomatic	NA	8	monosomy 7	autoimmunity
P0564	c.1018-1G>A	p.? (r.340_381del)	splice_acceptor_variant	Novel	PAT	unknown	2014	24345756		12.I.1	MDS	NA	22	NA		HPV infection	Y			respiratory symptoms
P0565	c.735dup	p.Ile246HisfsX36	frameshift_variant	Novel	PAT	unknown	2014	24345756		13.I.1	symptomatic	NA	19	NA		HPV infection
P0566	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	unknown	2014	24345756		15.I.1	MDS	F	4	NA	autoimmunity	HPV
P0567	c.1081-3_1031del	p.Ala341fsX?	frameshift_variant	Novel	LPAT	unknown	2014	24345756		16.I.1	symptomatic	NA	9	NA		HPV infection		Y
P0568	c.989_992dup	p.Leu332ThrfsX53	frameshift_variant	Novel	LPAT	unknown	2012	22147895	24227816	Patient 7	MDS, AML	M	14	monosomy 7, trisomy 8
P0569	c.1017+2T>G	p.?	splice_donor_variant	Novel	PAT	unknown	2012	22147895		Patient 10	MDS, immunodeficiency	M	19	NA		HPV
P0570	c.1060A>C	p.Thr354Pro	missense_variant	Novel	PAT	familial	2018	29724903		P22*	MDS	NA	15	normal	granulomatous dermatitis lupus-like	cutaneous HPV, buccal HSV
P0571	c.1061C>G	p.Thr354Met	missense_variant	Novel	PAT	familial	2018	29724903	39497062	P23*	MDS, HLH	F	21	hyerdiploid	HLH, sarcoidosis	genital HPV	Y
P0572	c.1070C>T	p.Thr357Ile	missense_variant	Novel	LPAT	unknown	2018	29724903		P24*	MDS	F	25	normal	Takayasu’s disease	genital HPV
P0573	c.1076T>C	p.Leu359Ser	missense_variant	Novel	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	Novel	LPAT	familial	2018	29724903		P26*	MDS	F	37	trisomy 8		cutaneous HPV
P0575	c.1081C>G	p.Arg361Gly	missense_variant	Novel	LPAT	unknown	2018	29724903		P27*	symptomatic	NA	23	NA			Y
P0576	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	unknown	2018	29724903	36727400	P28* / 40	cytopenias, MDS	F	5	normal	psoriasis	cutaneous HPV				PAP	DNMT3A
P0577	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	unknown	2018	29724903		P29*	MDS, AML	M	25	monosomy 7		cutaneous HPV	Y
P0578	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2018	29724903		P30*	MDS	F	8	del(20)(q11)		cutaneous HPV, oral HSV
P0579	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2018	29724903		P31*	MDS	M	21	normal		cutaneous HPV
P0580	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2018	29724903	36727400	P32* / 76	immunodeficiency, MDS	M	10	trisomy 8	dermo-hypodermitis, sarcoidosis-like disease, psoriasis		Y	Y		pulmonary segmental edema	STAG2
P0581	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2018	29724903	36727400	P33* / 26	MDS	M	11	normal	dermo-hypodermitis	aphthous stomatitis		Y
P0582	c.1103_1104del	p.Pro368ArgfsX15	frameshift_variant	Novel	PAT	unknown	2018	29724903		P35*	symptomatic	NA	43	NA		JC virus infection
P0583	c.1114G>A	p.Ala372Thr	missense_variant	Novel	LPAT	familial	2018	29724903		P37 (son)	CMML	M	42	trisomy 8
P0584	c.1114G>A	p.Ala372Thr	missense_variant	Novel	LPAT	unknown	2018	29724903		P38*	AML-M2	NA	20	?der(7)?r(7)(?p ?q) [22] del7q		EBV-related pneumonia
P0585	c.1118G>A	p.Cys373Tyr	missense_variant	Novel	LPAT	unknown	2018	29724903	36727400	P39* / 72	immunodeficiency, MDS	F	17	trisomy 1, monosomy 15	panniculitis, erythema nodosum	cutaneous HPV		Y		interstitial lung disease	STAG2
P0586	c.1142del	p.Asn381MetfsX6	frameshift_variant	Novel	PAT	unknown	2018	29724903	36727400, 39497062	P40* / 33	MDS, HLH	NA	14	normal	HLH	cutaneous HPV, influenza A (hemophagocytic syndrome)					EZH2
P0587	c.1143+5G>C	p.?	splice_region_variant	Novel	LPAT	unknown	2018	29724903		P41*	MDS	NA	11	trisomy 8		genital HPV
P0588	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2018	29724903		P44*	MDS	NA	9	monosomy 7	atypical Kawasaki syndrome with arthritis, arthritis
P0589	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2018	29724903		P45 (mother)	MDS	F	25	NA
P0590	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	2018	29724903		P47*	JMML	NA	0	normal						bronchiolitis
P0591	c.1193G>A	p.Arg398Gln	missense_variant	Novel	PAT	unknown	2018	29724903		P49*	MDS	NA	25	trisomy 8			Y
P0592	c.1-?_1443+?del	p.?	transcript_ablation	Novel	PAT	unknown	2018	29724903		P50*	MDS	M	18	normal		hepatitis A
P0593	c.1-?_1443+?del	p.?	transcript_ablation	Novel	PAT	unknown	2018	29724903		P51*	MDS	NA	13	monosomy 7, trisomy 8				Y
P0594	del3q21	del3q21	transcript_ablation	Novel	PAT	unknown	2018	29724903		P52*	MDS, AML	NA	2	monosomy 7		oral HSV, cutaneous HPV
P0595	c.1-?_1443+?del	p.?	transcript_ablation	Novel	PAT	unknown	2018	29724903		P53*	AML	NA	18	monosomy 7
P0596	c.1017+699insT	p.=	regulatory_region_variant	Novel	VUS	unknown	2016	26702063		D506	MDS-RCC	M	13.5	NA
P0597	c.17_18del	p.Glu6AlafsX178	frameshift_variant	Novel	PAT	unknown	2019	31340620		Patient ID#4	MDS-EB	M	5	monosomy 7
P0598	c.303del	p.Ala103GlnfsX16	frameshift_variant	Novel	PAT	unknown	2019	31340620		Patient ID#11	MDS-EB	F	16	der(1;7)(q10;p10)
P0599	c.1019del	p.Ser340TrpfsX47	frameshift_variant	Novel	LPAT	unknown	2019	31340620		Patient ID#6	MDS-RCC	M	8	monosomy 7
P0600	NA	p.Arg344LysfsX40	frameshift_variant	Novel	LPAT	unknown	2019	31340620		Patient ID#5	MDS-EB	M	7	normal
P0601	c.1023_1038dup	p.Thr347ArgfsX42	frameshift_variant	Novel	LPAT	unknown	2019	31340620		000	MDS-RCC	F	3	monosomy 7
P0602	c.1055G>T	p.Cys352Phe	missense_variant	Novel	LPAT	unknown	2019	23563236		Patient ID#7	AML	M	10	der(1;7)(q10;p10), trisomy1
P0603	c.1124del	p.Leu375ProfsX12	frameshift_variant	Novel	PAT	unknown	2019	31340620		Patient ID#9	MDS-EB	F	14	monosomy 7
P0604	c.1160C>A	p.Thr387Asn	missense_variant	6.762E-06	VUS	unknown	2019	23563236		Patient ID#1	MDS-RCC	F	1	trisomy 8							SETBP1 , ASXL1 , RUNX1,
P0605	c.1200_1216dup	p.Lys406SerfsX77	frameshift_variant	Novel	LPAT	unknown	2019	31340620		Patient ID#8	MDS-EB	M	12	monosomy 7
P0606	c.77A>C	p.His26Pro	missense_variant	Novel	VUS	familial	2013	23563236		index patient (brother)	AML	M	<14	NA
P0606	c.83del	p.Gly28AlafsX52	frameshift_variant	Novel	PAT	familial	2013	31340620		index patient (brother)	AML	M	14	NA
P0607	c.77A>C	p.His26Pro	missense_variant	Novel	VUS	unknown	2013	23563236		index patient (grandmother)	AML	F	<74	NA
P0607	c.83del	p.Gly28AlafsX52	frameshift_variant	Novel	PAT	unknown	2013	31340620		index patient (grandmother)	AML	F	74	NA
P0608	c.77A>C	p.His26Pro	missense_variant	Novel	VUS	familial	2013	23563236		index patient (uncle)	symptomatic	M	NA	NA				Y
P0608	c.83del	p.Gly28AlafsX52	frameshift_variant	Novel	PAT	familial	2013	23563236		index patient (uncle)	symptomatic	M	NA	NA				Y
P0609	c.77A>C	p.His26Pro	missense_variant	Novel	VUS	familial	2013	23563236		index patient (aunt)	hematological abnormality, immunodeficiency	F	42	NA			Y
P0609	c.83del	p.Gly28AlafsX52	frameshift_variant	Novel	PAT	familial	2013	23563236		index patient (aunt)	hematological abnormality, immunodeficiency	F	42	NA			Y
P0610	c.77A>C	p.His26Pro	missense_variant	Novel	VUS	familial	2013	23563236		index patient (cousin)	AML	NA	<21	NA
P0610	c.83del	p.Gly28AlafsX52	frameshift_variant	Novel	PAT	familial	2013	23563236		index patient (cousin)	AML	NA	21	NA
P0611	NA	NA	NA	NA	NA	unknown	2014	24227816	20040766, 23502222	7.I.1	MDS, LGL	F	51	NA		HPV	Y			PAP
P0612	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	unknown	2018	30030275		Mother (pedigree II-1)	MDS	F	40	monosomy 7, trisomy 8
P0613	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	familial	2018	30030275		Halfbrother 2 (pedigree III-3)	hematological abnormality	M	18	NA
P0614	c.404dup	p.Gly136ArgfsX49	frameshift_variant	Novel	LPAT	unknown	2015	26716079		Patient 1	MDS-RA	F	35	normal	low NK, B, CD4 T cells	severe genital HPV					ASXL1 (R693*)
P0615	c.982C>T	p.Gln328X	stop_gained	Novel	PAT	unknown	2021	33510405		HEL16	MDS-SLD	F	31	dic(1;15)(?;?)	systemic sarcoidosis, erythema nodosum		Y			PAP
P0616	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2021	33510405		HEL13	MDS-MLD	F	19	normal	panniculitis, erythema nodosum	HPV
P0617	NA	NA	NA	NA	NA	familial	2021	33510405		182	MDS-U	F	22	nuc ish (7q22)x1,(7q31)x1 [260/400]	leukocytoclastic vasculitis
P0618	c.735dup	p.Ile246HisfsX36	frameshift_variant	Novel	PAT	unknown	2018	29279357		14	MDS	F	20	NA	mild IgG hypogammaglobulinemia, CD19, CD56 lymphopenia	persistent HPV
P0619	c.593del	p.Ala198GlyfsX20	frameshift_variant	Novel	PAT	unknown	2019	30564229		Patient 4	hematological abnormality, immunodeficiency	NA	12	NA	monocytopenia, B- and NK- low cells
P0620	c.1172_1175del	p.Glu391GlyfsX85	frameshift_variant	Novel	PAT	unknown	2019	30564229	39497062	Patient 1	hematological abnormality, immunodeficiency, HLH	F	8	NA	HLH, neutropenia, monocytopenia, B- and NK- low cells	hepatitis, VZV
P0621	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	unknown	2013	23443460		809605	MDS	NA	NA	NA
P0622	c.1281dup	p.Phe428LeufsX108	frameshift_variant	Novel	LPAT	unknown	2013	23443460		01-13	MDS	NA	NA	NA							NRAS, BOD1L, CDH23, SETBP1, SF3A1, SF3B1
P0623	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	familial	2021	33417088		H II.1 P9	MDS, immunodeficiency	F	NA	normal	granulomatous hepatitis, low T, B, NK cells, monocytopenia	EBV	Y
P0624	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	familial	2021	33417088		H II.2 P10	MDS, immunodeficiency	F	NA	deletions, aneuploidy	low T, B, NK cells, monocytopenia, neutropenia	HPV, HHSV-2	Y
P0625	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	unknown	2021	33417088		L I.1 P14	symptomatic	F	NA	NA		HPV	Y	Y
P0626	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	familial	2021	33417088		L II.1 P15	MDS, immunodeficiency	M	NA	NA	low T, B, NK cells, DC, monocytopenia, neutropenia	HPV	Y	Y
P0627	c.915_916del	p.Trp306AlafsX77	frameshift_variant	Novel	PAT	unknown	2021	33417088		C II.1 P3	immunodeficiency	M	NA	NA	low T, B, NK cells, monocytopenia, neutropenia	HPV	Y		Y
P0628	c.988C>T	p.Arg330X	stop_gained	Novel	PAT	de novo	2021	33417088		I II.1 P11	MDS, immunodeficiency	M	NA	der(15)(1qter->1q12::15p11->15qter)	monoclonal gammopathy, low T, B, NK cells, DC, monocytopenia, neutropenia, sarcoidosis		Y
P0629	c.1035_1036insTCTGGCC	p.Gly346SerfsX40	frameshift_variant	Novel	LPAT	unknown	2021	33417088	39497062	K II.1 P13	MDS, immunodeficiency, HLH?	M	NA	NA	HLH?, low B, NK cells, monocytopenia		Y		Y
P0630	c.1099dup	p.Asp367GlyfsX15	frameshift_variant	Novel	PAT	familial	2021	33417088		N II.1 P17	immunodeficiency	F	NA	normal	low T, B, NK cells, DC, monocytopenia, neutropenia		Y
P0631	c.1143+2T>A	p.?	splice_donor_variant	Novel	PAT	de novo	2021	33417088		O II.1 P18	MDS	F	NA	trisomy 8	low B, NK cells, monocytopenia, neutropenia, erythema nodosum		Y
P0632	c.1163T>C	p.Met388Thr	missense_variant	Novel	LPAT	familial	2021	33417088		A II.1 P1	immunodeficiency	F	NA	NA	low T cells, monocytopenia	HPV	Y
P0633	c.1163T>C	p.Met388Thr	missense_variant	Novel	LPAT	familial	2021	33417088		J II.2 P12	immunodeficiency	F	NA	NA	low T, B, NK cells, DC, monocytopenia, neutropenia		Y		Y
P0634	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	familial	2021	33417088		M II.1 P16	MDS	M	NA	NA	low T, B, NK cells, monocytopenia, psoriasis, sarcoidosis	HSV 1, HPV, molluscum contagiosum	Y
P0635	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	de novo	2021	33417088		G II.1 P8	immunodeficiency	NA	NA	NA	low T, B, NK cells, monocytopenia, absence DC		Y
P0636	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2021	33417088		B II.4 P2	immunodeficiency	F	NA	NA	low T, B, NK cells, monocytopenia	HPV	Y	Y
P0637	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	familial	2018	30030275		Halfbrother 1 (pedigree III-2)	symptomatic	M	NA	NA
P0638	c.1017+2T>G	p.?	splice_donor_variant	Novel	PAT	unknown	2012	22147895		SAPATH #3	MDS	M	19	monosomy 7	monocytopenia	HPV					SETBP1
P0639	c.1-200_871+527del	p.Met1del290	transcript_ablation	Novel	PAT	familial	2012	22147895	20040766, 21670465	13.II.2	immunodeficiency	F	NA	NA		HPV, disseminated VZV
P0640	c.1054del	p.Cys352ValfsX35	frameshift_variant	Novel	PAT	unknown	2016	26767875		Patient	MDS-RCMD	F	20	normal	profound monocytopenia, B/NK-cell lymphocytopenia	HPV, EBV			Y	bilateral pleural effusion
P0641	c.892dup	p.Cys298LeufsX86	frameshift_variant	Novel	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	Novel	PAT	familial	2018	29680795		Patient 1	MDS, MonoMac	M	24	normal		HPV	Y			asthma
P0643	c.869C>A	p.Ser290X	stop_gained	Novel	LPAT	unknown	2017	29230432		Patient 1	immunodeficiency	M	12	NA	monocytopenia						ASXL1
P0644	c.561dup	p.Thr188HisfsX14	frameshift_variant	Novel	LPAT	unknown	2020	32088370		Patient ID#13	MDS-RCC	NA	16.8	normal
P0645	c.817_818del	p.Gly273ThrfsX8	frameshift_variant	Novel	PAT	unknown	2020	32088370		Patient ID#1	MDS-RAEBt/AML	NA	15.4	monosomy 7
P0646	c.817_818del	p.Gly273ThrfsX8	frameshift_variant	Novel	PAT	unknown	2020	32088370		Patient ID#6	MDS-RAEBt/AML	NA	13.5	monosomy 7, trisomy 8
P0647	c.818dup	p.Pro274ThrfsX8	frameshift_variant	Novel	LPAT	unknown	2020	32088370		Patient ID#15	AML	NA	8.9	cytogenetic abnormalities
P0648	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2020	32088370		Patient ID#4	ALL	NA	12.3	monosomy 7, other cytogenetic abnormalities
P0649	c.1024_1026del	p.Ala342del	inframe_deletion	Novel	VUS	unknown	2020	32088370		Patient ID#11	MDS-RAEBt/AML	NA	14	monosomy 7
P0650	c.1024_1026del	p.Ala342del	inframe_deletion	Novel	VUS	unknown	2020	32088370		Patient ID#10	MDS-RAEBt/AML	NA	10	monosomy 7
P0651	c.1052A>G	p.Asn351Ser	missense_variant	Novel	VUS	unknown	2020	32088370		Patient ID#12	MDS-RCC	NA	19.8	monosomy 7
P0652	c.1113C>A	p.Asn371Lys	missense_variant	Novel	PAT	unknown	2020	32088370		Patient ID#5	MDS-RCC	NA	16	monosomy 7
P0653	c.1113C>A	p.Asn371Lys	missense_variant	Novel	PAT	unknown	2020	32088370		Patient ID#9	MDS-RCC	NA	15	normal
P0654	c.1113del	p.Asn371LysfsX16	frameshift_variant	Novel	PAT	unknown	2020	32088370		Patient ID#3	AML	NA	5.4	monosomy 7, trisomy 8
P0655	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2020	32088370		Patient ID#14	MDS-RCC	NA	15.8	normal
P0656	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2020	32088370		Patient ID#2	MDS-RCC	NA	14	trisomy 8
P0657	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2020	32088370		Patient ID#7	MDS-RCC	NA	15	trisomy 8
P0658	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2020	32088370		Patient ID#8	MDS-RCC	NA	18	monosomy 7, trisomy 8
P0659	c.988C>T	p.Arg330X	stop_gained	Novel	PAT	unknown	2020	33370941		Patient 1	immunodeficiency	F	9	NA	monocytopenia, NK Cells low	viral pneumonia, influenza A		Y
P0660	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	unknown	2015	25239263		FH-202	MDS	F	12	NA	decreased B cell precursors, psoriasis, erythema multiforme
P0661	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2015	25239263		FH-154	MDS	F	17	NA
P0662	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2015	25239263		FH-82	MDS	F	16	NA
P0663	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	familial	2017	28602958		PATIENT #12	GATA2 deficiency related bone marrow and immunodeficiency disorder	F	12.5	trisomy 8	mild immune dysfunction	primary EBV
P0664	c.1072_1074del	p.Thr358del	inframe_deletion	Novel	LPAT	unknown	2017	28602958		PATIENT #13	GATA2 deficiency related bone marrow and immunodeficiency disorder	M	11.4	NA	low B and T cells	HPV
P0665	c.1017+2T>C	p.? (r.Ser340AlafsX49)	splice_donor_variant	Novel	PAT	de novo	2018	29178327		Japanese man	MDS	M	33	NA	inverted CD4/CD8 ratio, lymphopenia, no monocytes, elevated NK cells	severe HPV		Y
P0666	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2018	28440875		Case 1	Emberger syndrome, MDS-LB	M	12	normal	leukopenia	plantar HPV		Y
P0667	c.1020_1029dup	p.Arg344GlyfsX43	frameshift_variant	Novel	PAT	unknown	2018	28440875	27799394	Case 2	MDS	F	28	normal	panniculitis, hypergammaglobulinemia, monocytopenia, sclerodermiform lesions, erythema nodosum	HPV on hands		Y		shortness of breath, dry cough, interstitial lung disease, sPAP, lymphocytic alveolitis
P0668	c.1060A>C	p.Thr354Pro	missense_variant	Novel	PAT	de novo	2018	28440875		Case 3	MDS	F	11	normal	low IgA levels, B cell lymphopenia, lupoid lesions on the cheeks, temples, forehead			Y
P0669	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2016	27232273		Patient 1	B-ALL	F	11	complex karyotype with monosomy 7	fever	severe verruca plantaris (HPV)	Y
P0670	c.1143+5G>A	p.?	splice_region_variant	Novel	LPAT	familial	2018	27577878	34893945	84.1 (monozygotic twins) / Patient 4	symptomatic	F	45	NA	suppurative skin infection after BCG, lupus-like syndrome	HPV, EBV			Y	progressive obliterating bronchiolitis
P0671	c.1143+5G>A	p.?	splice_region_variant	Novel	LPAT	familial	2018	27577878	34893945	84.4 (monozygotic twins) / Patient 5	MDS-MLD	F	39	normal	lupus-like syndrome	HPV, VZV, EBV			Y	progressive obliterating bronchiolitis
P0672	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2018	27577878	34893945	86.1 / Patient 7	MDS-MLD	F	23	trisomy 8		HPV		Y		interstitial lung disease	STAG2
P0673	c.1078T>A	p.Trp360Arg	missense_variant	Novel	PAT	unknown	2018	27577878	34893945	88.1 / Patient 6	MDS-MLD	M	26	trisomy 8	fever of unknown origin				Y	recurrent pneumothorax
P0674	c.1062_1064del	p.Thr358del	inframe_deletion	Novel	LPAT	familial	2022	34893945		Patient 1 (father of P2 and P3)	hematological abnormality	M	44	normal		HPV, disseminated HSV			Y
P0675	c.1062_1064del	p.Thr358del	inframe_deletion	Novel	LPAT	familial	2022	34893945		Patient 2 (son of P1)	MDS-EB1	M	14	monosomy 7, trisomy 8		HPV					U2AF1, GATA2
P0676	c.1062_1064del	p.Thr358del	inframe_deletion	Novel	LPAT	familial	2022	34893945		Patient 3 (daughter of P1)	asymptomatic	F	9	normal		HPV
P0677	c.1017+1G>T	p.?	splice_donor_variant	Novel	LPAT	unknown	2022	34893945		Patient 8	symptomatic	F	53	normal				Y
P0678	c.163C>T	p.Gln55X	stop_gained	Novel	LPAT	unknown	2022	34893945		Patient 9	AML-MRC	F	23	der(1;7)(q10;p10), trisomy 1	erythema nodosum						RUNX1, CSF3R, PHF6, FBXW7
P0679	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	familial	2022	34893945		Patient 10 (sibling to P11)	MDS-MLD	F	31	trisomy 6, trisomy 8, + 21? + 21		HPV, cervical dysplasia			Y		BCOR
P0680	c.1084C>T	p.Arg362X	stop_gained	Novel	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	Novel	LPAT	unknown	2022	34893945		Patient 12	MDS-RCC	F	14	monosomy 7, trisomy 8					Y	bronchopulmonary dysplasia, asthma
P0682	c.1114G>A	p.Ala372Thr	missense_variant	Novel	LPAT	unknown	2022	34893945		Patient 14	MDS-SLD	F	31	normal					Y		STAG2
P0683	c.1339A>C	p.Ser447Arg	missense_variant	Novel	LPAT	unknown	2019	31256854		Patient 44	hematological abnormality, immunodeficiency	M	NA	NA
P0684	c.1339A>C	p.Ser447Arg	missense_variant	Novel	LPAT	unknown	2019	31256854		Patient 45	hematological abnormality	F	NA	NA
P0685	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2019	31256854		Patient 46	immunodeficiency	M	NA	NA	immunodeficiency		Y
P0686	NA	NA	NA	NA	NA	unknown	2019	31256854		Patient 47	hematological abnormality, immunodeficiency	M	NA	NA		HPV					ASXL1
P0687	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	2019	31256854		Patient 48	hematological abnormality, immunodeficiency	F	50	i(17)(q10)		RSV pneumonitis
P0688	c.1339A>C	p.Ser447Arg	missense_variant	Novel	LPAT	unknown	2019	31256854		Patient 49	inherited bone marrow failure, MDS	F	NA	NA							ASXL1
P0689	c.256del	p.Arg86AlafsX33	frameshift_variant	Novel	LPAT	unknown	2019	31203817		76.1	MDS-RCMD	F	29	NA	neutropenia	mucocutaneous viral infections, HSV encephalitis
P0690	c.1078T>A	p.Trp360Arg	missense_variant	Novel	PAT	unknown	2017	28126493		Patient 1	hematological abnormality, immunodeficiency	F	25	NA	lymphopenia, monocytopenia	measles, HPV
P0691	c.599del	p.Gly200ValfsX18	frameshift_variant	Novel	PAT	familial	2023	36727400		1	hematological malignancy (spectrum 1)	M	16	normal		HPV
P0692	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	de novo	2023	36727400		2	hematological malignancy (spectrum 1)	M	40	normal		HPV	Y				ASXL1
P0693	c.257_258del	p.Cys85fsX?	frameshift_variant	Novel	PAT	de novo	2016	27481672	36727400	index patient / 3	immunodeficiency, MDS-RCC	M	8	monosomy 7	fever, leukopenia, neutropenia, monocytopenia	aphtous stomatitis, chickenpox, HPV, parvovirus B19
P0694	c.1018-1G>A	p.? (r.340_381del)	splice_acceptor_variant	Novel	PAT	de novo	2023	36727400		4	immunodeficiency, hematological malignancy	F	22	normal		HPV					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		HPV, chronic EBV		Y			STAG2, STAG2
P0696	c.1045T>G	p.Cys349Gly	missense_variant	Novel	LPAT	de novo	2023	36727400		7	hematological malignancy (spectrum 1)	F	18	normal		HPV	Y	Y			STAG2, STAG2
P0697	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	de novo	2023	36727400		8	symptomatic	F	30	normal		HPV	Y
P0698	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2023	36727400		9	hematological malignancy (spectrum 1)	M	17	trisomy 8
P0699	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2023	36727400		10	hematological malignancy (spectrum 1)	M	17	trisomy 8		HPV
P0700	c.1114G>A	p.Ala372Thr	missense_variant	Novel	LPAT	familial	2023	36727400		11	immunodeficiency, hematological malignancy	M	16	trisomy 8		HPV
P0701	c.593del	p.Ala198GlyfsX20	frameshift_variant	Novel	PAT	de novo	2023	36727400		12	immunodeficiency, hematological malignancy	F	12	normal							ASXL1, STAG2, STAG2
P0702	c.988C>T	p.Arg330X	stop_gained	Novel	PAT	de novo	2023	36727400		13	immunodeficiency, hematological malignancy	F	25	normal		HPV					STAG2, STAG2, STAG2, STAG2
P0703	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2023	36727400		14	hematological malignancy (spectrum 1)	F	0.6	normal
P0704	c.1124T>G	p.Leu375Arg	missense_variant	Novel	LPAT	de novo	2023	36727400		15	immunodeficiency, hematological malignancy	M	21	normal		HPV					EZH2, RUNX1, STAG2
P0705	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	unknown	2023	36727400		16	cytopenia, hematological malignancy	F	48	der7 t(1;7)(q10;q10), monosomy 7						PAP	ASXL1, RUNX1, STAG2
P0706	whole gene deletion	whole gene deletion	transcript_ablation	Novel	PAT	familial	2023	36727400		17	immunodeficiency, hematological malignancy	F	17	normal							STAG2, ASXL1
P0707	c.1113C>A	p.Asn371Lys	missense_variant	Novel	PAT	familial	2023	36727400		18	congenital malformations	M	22	normal						PAP
P0708	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	familial	2023	36727400		21	cytopenia	F	9	normal
P0709	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	familial	2023	36727400		22	immunodeficiency, hematological malignancy	F	24	monosomy 7		HPV					SETBP1
P0710	c.1115C>T	p.Ala372Val	missense_variant	Novel	LPAT	familial	2023	36727400		23	asymptomatic	M	NA	normal
P0711	c.1115C>T	p.Ala372Val	missense_variant	Novel	LPAT	familial	2023	36727400		24	immunodeficiency, hematological malignancy	F	17	trisomy 1, der(qter--q31:p11-->q21:q11-->qter)		HPV					ASXL1, STAG2, STAG2
P0712	c.1115C>T	p.Ala372Val	missense_variant	Novel	LPAT	familial	2023	36727400		25	cytopenia, hematological malignancy	F	13	monosomy 7
P0713	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	de novo	2023	36727400		27	hematological malignancy	M	26	monosomy 7, trisomy 8							STAG2
P0714	c.1073C>A	p.Thr358Asn	missense_variant	Novel	PAT	familial	2023	36727400		29	hematological malignancy	M	25	monosomy 7
P0715	c.1073C>A	p.Thr358Asn	missense_variant	Novel	PAT	familial	2023	36727400		30	asymptomatic	F	NA	normal
P0716	c.1073C>A	p.Thr358Asn	missense_variant	Novel	PAT	familial	2023	36727400		31	immunodeficiency, hematological malignancy	M	21	trismomy 8, der(1;7)(q10;q10)		HPV					STAG2, STAG2, STAG2, ASXL1, KMT2D
P0717	c.1046G>A	p.Cys349Tyr	missense_variant	Novel	PAT	de novo	2023	36727400		35	cytopenia, hematological malignancy	F	4	normal		chronic EBV		Y		PAP	BCOR, RAD21, STAG2
P0718	c.1008del	p.Lys336AsnfsX51	frameshift_variant	Novel	LPAT	unknown	2023	36727400		36	cytopenia, hematological malignancy	M	14	monosomy 7							JAK2, SETBP1, GATA1
P0719	c.1076T>C	p.Leu359Ser	missense_variant	Novel	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	Novel	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	Novel	VUS	unknown	2023	36727400		42	immunodeficiency, hematological malignancy	M	1	monosomy 7		HPV					STAG2, STAG2, STAG2, STAG2, STAG2, STAG2, STAG2, STAG2
P0722	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2023	36727400		43	hematological malignancy (spectrum 2)	M	40	normal							STAG2, SETBP1
P0723	c.976_979dup	p.Gly327GlufsX58	frameshift_variant	Novel	PAT	familial	2023	36727400		44	immunodeficiency, hematological malignancy	F	25	normal		HPV					ASXL1, STAG2
P0724	c.1076T>C	p.Leu359Ser	missense_variant	Novel	LPAT	familial	2023	36727400		47	immunodeficiency	F	37	NA
P0725	c.1114G>A	p.Ala372Thr	missense_variant	Novel	LPAT	unknown	2023	36727400		48	immunodeficiency, hematological malignancy	M	28	normal			Y				STAG2, STAG2, STAG2, STAG2, STAG2, STAG2, STAG2
P0726	c.1084del	p.Arg362GlufsX25	frameshift_variant	Novel	PAT	de novo	2023	36727400		50	congenital malformations, hematological malignancy (spectrum 1)	F	0.9	normal						PAP	STAG2
P0727	c.1045dup	p.Cys349LeufsX35	frameshift_variant	Novel	PAT	de novo	2023	36727400		53	hematological malignancy	M	10	monosomy 7							SETBP1, DHX15
P0728	c.728_729del	p.His243ProfsX38	frameshift_variant	Novel	LPAT	unknown	2023	36727400		56	cytopenia, hematological malignancy	M	15	monosomy 7							STAG2
P0729	c.400_422delinsTGAGGGTGGGAG	p.Pro134fsX	frameshift_variant	Novel	PAT	familial	2023	36727400		57	congenital malformations, hematological malignancy	F	6	trisomy 1, trisomy 8, der(1;7)(q10;p10)		HPV		Y			DNMT3A, GATA2
P0730	c.194_195del	p.His65ArgfsX119	frameshift_variant	Novel	LPAT	unknown	2023	36727400		59	immunodeficiency, hematological malignancy	M	6	monosomy 7
P0731	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	unknown	2023	36727400		61	immunodeficiency, hematological malignancy	M	7	monosomy 7							SETBP1
P0732	c.1061C>T	p.Thr354Met	missense_variant	Novel	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	Novel	PAT	unknown	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	Novel	PAT	de novo	2023	36727400		68	congenital malformations, hematological malignancy	M	4	monosomy 7							SETBP1, ASXL1
P0735	c.1061C>T	p.Thr354Met	missense_variant	Novel	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	Novel	LPAT	familial	2023	36727400		73	congenital malformations	M	61	normal
P0737	c.1061dup	p.Thr355AspfsX29	frameshift_variant	Novel	PAT	de novo	2023	36727400		75	cytopenia, hematological malignancy	M	7	monosomy 7
P0738	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	familial	2023	36727400		77	cytopenia	F	15	normal
P0739	c.367_370del	p.Lys123ArgfsX94	frameshift_variant	Novel	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	Novel	PAT	familial	2023	36727400		45	asymptomatic	M	NA	normal
P0742	c.710del	p.Gly237AlafsX89	frameshift_variant	Novel	PAT	de novo	2017	28747912	25955867	Patient 2	hematological abnormality, immunodeficiency	M	27	NA	low NK count, low B cell count, no DC	extensive HSV2 vesicular rash		Y
P0743	c.1132A>T	p.Lys378X	stop_gained	Novel	PAT	de novo	2017	28747912		Patient 3	hematological abnormality, immunodeficiency	F	8	trisomy 8, hyperdiploidity	low B, T, NK cell counts			Y	Y	bilateral bronchiectasia
P0744	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	unknown	2020	32135276		Patient X	hematological abnormality, immunodeficiency	NA	NA	monosomy 7
P0745	c.1054T>C	p.Cys352Arg	missense_variant	Novel	LPAT	familial	2017	28104920		#7	MDS/AML	NA	NA	NA
P0746	c.1081C>G	p.Arg361Gly	missense_variant	Novel	LPAT	familial	2017	28104920		#8	MDS/AML	NA	NA	NA
P0747	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2017	28104920		#9	hematological abnormality, immunodeficiency	NA	NA	NA
P0748	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2017	28104920		#10	MDS/AML	NA	NA	NA
P0749	c.1045T>G	p.Cys349Gly	missense_variant	Novel	LPAT	unknown	2018	29947977		Patient 1	MDS-MLD	F	17	normal	low B, T, NK cell counts, no DC	HPV	Y			PAP
P0750	c.988C>T	p.Arg330X	stop_gained	Novel	PAT	unknown	2014	24578498		Patient J384	JMML-like MDS/MPN	M	4	monosomy 7							GATA2, KRAS
P0751	c.1009C>T	p.Arg337X	stop_gained	Novel	PAT	unknown	2017	27894982		Patient 1	immunodeficiency, low grade MDS	F	24	NA	fever, erythema nodosum	cervical HPV	Y	Y		dyspnea, cough, PAP
P0752	c.1009C>T	p.Arg337X	stop_gained	Novel	PAT	unknown	2021	33684095	39497062	Patient 1	HLH	F	22	NA	fever, absent NK cells	CMV			Y
P0753	exon 4 deletion	exon 4 deletion	transcript_ablation	Novel	PAT	familial	2018	29365323		25 / Family_0666.001	MDS	F	23	monosomy 7
P0754	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2015	26492932		1001-001	MDS-RCMD	F	15	normal							ASXL1
P0755	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2015	26492932		1001-004	MDS	F	25	NA
P0756	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2015	26492932		1001-005	MDS, AML	F	13	normal							SHROOM2, TUBA3C, HYDIN, STAG2
P0757	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2015	26492932		1001-006	MDS	F	13	NA
P0758	c.1192C>T	p.Arg398Trp	missense_variant	Novel	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	Novel	PAT	de novo	2018	29620682		Patient 1	MDS	M	17	monosomy 7,+mar		HPV		Y
P0760	c.1021_1031del	p.Ala341SerfsX39	frameshift_variant	Novel	PAT	familial	2021	33957466		S1M	MDS	M	11	monosomy 7
P0761	c.1021_1031del	p.Ala341SerfsX39	frameshift_variant	Novel	PAT	familial	2021	33957466		S2F	AML	F	13	monosomy 7
P0762	c.1021_1031del	p.Ala341SerfsX39	frameshift_variant	Novel	PAT	familial	2021	33957466		S3F	MDS	F	16	monosomy 7, trisomy 8
P0763	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2015	25359990	34469508	51	MDS-RCMD	F	19	der(1;7)(q10;p10), trisomy 1, trisomy 8	low B, NK count, monocytopenia
P0764	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2020	31710708		Patient 1	AML	F	13	NA	fever, panhypogammaglobulinemia
P0765	c.1099del	p.Asp367ThrfsX20	frameshift_variant	Novel	PAT	unknown	2020	31710708		Patient 3	MDS	M	22	NA	low B, NK count, monocytopenia	complicated primary EBV infection, verrucae plantares and vulgares, anal condyloma acuminate (HPV, HSV)
P0766	whole gene deletion	whole gene deletion	transcript_ablation	Novel	PAT	unknown	2020	31710708		Patient 2	MDS	M	12	NA	low B, NK count, monocytopenia	severe plantar HPV	Y
P0767	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2020	31350183	39497062	Patient 1	HLH	F	27	NA	HLH, low B, NK count, monocytopenia	CMV
P0768	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2011	21670465		Kindred 5	AML	M	19	NA		recurrent HPV infections
P0769	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	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	Novel	PAT	familial	2015	25619630		Family 2 P1	hematological abnormality, immunodeficiency	F	0	NA	monocytopenia
P0771	deletion 3q21	deletion 3q21	transcript_ablation	Novel	PAT	familial	2015	25619630		Family 3 P1	hematological abnormality, immunodeficiency	F	17	NA		EBV
P0772	c.1073C>A	p.Thr358Asn	missense_variant	Novel	PAT	familial	2014	24754962	25676417, 40148527	Chicago Family	AML	F	50	NA						respiratory failure
P0772	c.1075T>G	p.Leu359Val	missense_variant	Novel	LPAT	familial	2014	24754962	25676417, 40148527	Chicago Family	AML	F	50	NA						respiratory failure
P0773	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	de novo	2019	30894283		Patient 1	immunodeficiency, Emberger syndrome	F	10	NA	hypogammaglobulinemia, low B, NK count, monocytopenia	HSV, chronic molluscum contagiosum		Y	Y
P0774	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	de novo	2020	33363905		Patient II:2	MDS-MLD	M	17	normal	low B cell count, monocytopenia	HPV		Y	Y
P0775	c.1113C>A	p.Asn371Lys	missense_variant	Novel	PAT	unknown	2014	25326637		50	MDS, immunodeficiency 21, Emberger sy	NA	21	NA	low B, NK count, low DC, monocytopenia			Y
P0776	c.1129T>G	p.Tyr377Asp	missense_variant	Novel	VUS	unknown	2015	26264606		Case no. 2	hematological abnormality, immunodeficiency	M	34	NA	monocytopenia	chronic labial herpes (HSV)	Y
P0777	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	2015	26264606	28642594	Case no. 4	hematological abnormality, immunodeficiency	F	38	NA	monocytopenia	HPV		Y		PAP
P0778	c.1114G>A	p.Ala372Thr	missense_variant	Novel	LPAT	unknown	2016	26710799		4 (6836)	MDS	F	66	NA	low B, NK count
P0779	c.1143+5G>C	p.?	splice_region_variant	Novel	LPAT	unknown	2016	26710799		5 (6739)	immunodeficiency	F	NA	NA	monocytopenia
P0780	c.1143+200_1198del	p.Asn381fsX	frameshift_variant	Novel	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	Novel	LPAT	unknown	2017	29146900		SJ040268	AML-MRC	F	5	trisomy 8, monosomy 7	monocytopenia
P0782	c.1126_1133dup	p.Lys378AsnfsX12	frameshift_variant	Novel	PAT	unknown	2021	33759087		Patient II-3	MDS-RCMD	M	35	normal					Y
P0783	c.1126_1133dup	p.Lys378AsnfsX12	frameshift_variant	Novel	PAT	familial	2021	33759087		Patient III-1	MDS-RCMD	F	18	normal	febrile neutropenia, neutropenia	EBV			Y
P0784	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2012	22430350	28642594	Japanese girl	MDS	F	19	NA	panniculitis, low B, NK, low DC monocytopenia	severe VZV, HPV		Y
P0785	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2015	25624456		Patient	hematological abnormality, immunodeficiency	F	40	normal	monocytopenia, absence of NK cells	CMV, HSV
P0786	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	unknown	2017	28209719		Patient 1	MDS	NA	60	NA	monocytopenia	HPV				bronchiectasis/chronic bronchitis
P0787	c.803del	p.Gly268fsX?	frameshift_variant	Novel	PAT	unknown	2017	28209719		Patient 2	hematological abnormality	NA	29	NA	low B, NK cell count, monocytopenia	HPV	Y			bronchiectasis/chronic bronchitis, PAP
P0788	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2017	28209719		Patient 3	MDS	NA	28	NA	low B, NK cell count, monocytopenia	HPV
P0789	c.1018-1G>T	p.?	splice_acceptor_variant	Novel	PAT	unknown	2017	28209719		Patient 4	hematological abnormality	NA	18	NA	low NK cell count, monocytopenia, autoimmunity	HPV				bronchiectasis/chronic bronchitis
P0790	c.1143+5G>A	p.?	splice_region_variant	Novel	LPAT	unknown	2017	28209719		Patient 5	hematological abnormality	NA	21	NA	low B, NK cell count, monocytopenia	HPV				bronchiectasis/chronic bronchitis
P0791	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2017	28209719		Patient 6	MDS	NA	7	NA	low B, NK cell count, monocytopenia		Y			bronchiectasis/chronic bronchitis
P0792	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2017	28209719		Patient 7	MDS	NA	18	NA	low B, NK cell count, monocytopenia	HPV	Y	Y		bronchiectasis/chronic bronchitis
P0793	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2017	28209719		Patient 8	MDS	NA	17	NA	low B, NK cell count, monocytopenia	HPV				bronchiectasis/chronic bronchitis, PAP
P0794	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	2017	28209719		Patient 9	hematological abnormality	NA	NA	NA	low B, NK cell count
P0795	c.1193G>A	p.Arg398Gln	missense_variant	Novel	PAT	unknown	2017	28209719		Patient 10	symptomatic	NA	29	NA
P0796	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2017	28209719		Asymptomatic carrier 1	asymptomatic	NA	61	NA
P0797	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2017	28209719		Asymptomatic carrier 2	asymptomatic	NA	52	NA	low NK cell count
P0798	c.1193G>A	p.Arg398Gln	missense_variant	Novel	PAT	familial	2017	28209719		Asymptomatic carrier 3	asymptomatic	NA	32	NA	low NK cell count
P0799	c.206_208delinsT	p.Arg69LeufsX115	frameshift_variant	Novel	PAT	de novo	2021	34387894		SAPATH #1	AML	NA	NA	NA
P0800	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	unknown	2021	34387894		SAPATH #2	MDS	M	37	chromosome 1 translocation	low B, NK cell count, monocytopenia, sarcoidosis		Y			dyspnoea, pulmonary fibrosis and bronchiectasis with mediastinal and hilar lymphadenopathy
P0801	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2021	34387894		SAPATH #4	immunodeficiency	F	44	NA	monocytopenia	HPV	Y
P0802	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2021	34387894		SAPATH #5	MDS	M	14	NA
P0803	c.1322_1325dup	p.His442GlnfsX95	frameshift_variant	Novel	LPAT	unknown	2021	34387894		SAPATH #6	AML, t-MDS	NA	NA	NA
P0804	c.1018-?_1443+?del	del ZF2 & C-terminus	transcript_ablation	Novel	PAT	unknown	2021	34387894		SAPATH #7	MDS	M	30	NA					Y
P0805	c.1113C>G	p.Asn371Lys	missense_variant	Novel	PAT	unknown	2023	36357187		Patient 1	MDS	F	38	monosomy 7	low B, NK cell count, lupus anticoagulant positivity
P0806	c.1083_1094del	p.Arg361del4ArgAsnAlaAsn	inframe_deletion	Novel	LPAT	unknown	2023	36357187		Patient 2	MDS	M	25	NA	low B, T, NK cell count, lupus anticoagulant positivity			Y
P0807	c.898dup	p.Ala300GfsX83	frameshift_variant	Novel	LPAT	unknown	2023	36357187		Patient 5	MDS	F	34	NA	low B, T, NK cell count			Y
P0808	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2023	36357187		Patient 6	symptomatic	F	29	NA	low B, T, NK cell count, lupus anticoagulant positivity			Y
P0809	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2023	36357187		Patient 7	MDS	F	32	trisomy 8	low B, T, NK cell count, lupus anticoagulant positivity
P0810	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	2023	36357187		Patient 8	symptomatic	M	22	NA	low B, T, NK cell count, lupus anticoagulant positivity
P0811	c.715C>T	p.Gly239X	stop_gained	Novel	LPAT	unknown	2023	36357187		Patient 9	MDS	M	36	NA	low B, T, NK cell count, lupus anticoagulant positivity			Y
P0812	uniallelic expression of GATA2	uniallelic expression of GATA2	transcript_ablation	Novel	PAT	unknown	2023	36357187		Patient 10	T-cell lymphoma	F	21	NA	low B, T cell count, lupus anticoagulant positivity
P0813	c.1168_1170del	p.390delLys	inframe_deletion	Novel	LPAT	NA	2018	29669757		SOMATIC GATA2 MUTATION PATIENT	MPN/MDS	F	58	NA	monocytopenia					PAP	ASXL1
P0814	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2023	37837580		1	cMDS-LB	M	14	normal	leukopenia, neutropenia, monocytopenia	viral infection	Y				EZH2
P0815	c.503_504insGCTC	p.His169LeufsX17	frameshift_variant	Novel	LPAT	unknown	2023	37837580		3	cMDS-LB	F	16	normal	leukopenia, neutropenia, monocytopenia						ASXL1
P0816	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2023	37837580		4	cMDS-IB	F	17	monosomy 7	leukopenia, neutropenia, lymphopenia, monocytopenia
P0817	c.1215G>T	p.Lys405Asn	missense_variant	Novel	VUS	familial	2023	37837580		5	GATA2 deficiency	M	3	normal		viral infection
P0818	c.112C>T	p.Gln38X	stop_gained	Novel	PAT	unknown	2023	37837580		6	GATA2 deficiency	M	15	NA	inverted CD4/CD8 ratio, leukopenia, neutropenia, lymphopenia, monocytopenia	viral infection
P0819	c.919C>T	p.Arg307Trp	missense_variant	Novel	VUS	unknown	2023	37837580		7	GATA2 deficiency	M	17	NA	leukopenia, neutropenia
P0820	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2023	37837580		8	GATA2 deficiency	M	5	NA	inverted CD4/CD8 ratio, neutropenia, monocytopenia	viral infection
P0821	c.1079G>A	p.Trp360X	stop_gained	Novel	PAT	unknown	2023	37837580		9	GATA2 deficiency	F	13	trisomy 8	leukopenia, lymphopenia, monocytopenia	HPV, other viral infection			Y
P0822	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2023	37837580		10	cMDS-IB	F	16	normal	inverted CD4/CD8 ratio, leukopenia, neutropenia, lymphopenia, monocytopenia				Y
P0823	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2023	37837580		11	cMDS-LB	M	17	normal	leukopenia, neutropenia, lymphopenia, monocytopenia
P0824	c.1215G>T	p.Lys405Asn	missense_variant	Novel	VUS	familial	2023	37837580		12	cMDS-IB	M	12	normal	leukopenia, neutropenia, monocytopenia	viral infection
P0825	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2023	37837580		13	MDS-LB	F	20	trisomy 8	leukopenia, neutropenia, monocytopenia			Y
P0826	intron 4 deletion	intron 4 deletion	transcript_ablation	Novel	PAT	unknown	2023	37837580		15	AML	F	14	normal	leukopenia, neutropenia, monocytopenia						MECOM
P0827	c.1084C>G	p.Arg362Gly	missense_variant	Novel	LPAT	unknown	2023	37837580		16	AML	M	18	normal	leukopenia, neutropenia, lymphopenia, monocytopenia
P0828	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2023	37837580		17	GATA2 deficiency	F	NA	normal	leukopenia, neutropenia, monocytopenia , autoimmunity	viral infection				PAP
P0829	c.1046G>A	p.Cys349Tyr	missense_variant	Novel	PAT	familial	2023	37837580		18	cMDS-LB	F	12	trisomy 8	inverted CD4/CD8 ratio, leukopenia, neutropenia	viral infection		Y		PAP
P0830	NA	NA	NA	NA	NA	unknown	2023	37837580		19	AML	F	2	normal	leukopenia, neutropenia
P0831	NA	NA	NA	NA	NA	familial	2023	37837580		20	cMDS-IB	F	8	monosomy 7	leukopenia, neutropenia, lymphopenia, monocytopenia	viral infection				PAP
P0832	c.1057C>T	p.Gln353X	stop_gained	Novel	PAT	unknown	2023	37837580		21	MDS-LB	F	39	trisomy 8	leukopenia, neutropenia, lymphopenia, monocytopenia	viral infection	Y		Y	PAP
P0833	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2023	37837580		22	GATA2 deficiency	F	45	normal	leukopenia, neutropenia, lymphopenia, monocytopenia, autoimmunity		Y
P0834	c.503_504insGCTC	p.His169LeufsX17	frameshift_variant	Novel	LPAT	unknown	2023	37837580		23	asymptomatic	M	43	NA
P0835	c.1215G>T	p.Lys405Asn	missense_variant	Novel	VUS	unknown	2023	37837580		24	asymptomatic	F	45	NA	leukopenia, neutropenia
P0836	c.1046G>A	p.Cys349Tyr	missense_variant	Novel	PAT	familial	2023	37837580		25	asymptomatic	M	54	NA
P0837	c.1009C>T	p.Arg337X	stop_gained	Novel	PAT	familial	2023	37837580		26	cMDS-LB	F	11	monosomy 7				Y
P0838	c.1150A>G	p.Arg384Gly	missense_variant	Novel	LPAT	unknown	2023	37837580		27	AML	F	19	monosomy 7	leukopenia, neutropenia			Y
P0839	c.372_373insT	p.Pro125SerfsX60	frameshift_variant	Novel	LPAT	unknown	2023	37837580	39015540	28	MDS-IB, AML	M	52	trisomy 8	inverted CD4/CD8 ratio, leukopenia, neutropenia, monocytopenia	anogenital HPV	Y				ASXL1, EZH2, RUNX1
P0840	c.1009C>T	p.Arg337X	stop_gained	Novel	PAT	familial	2023	37837580		29	MDS-LB	F	36	trisomy 8	leukopenia, neutropenia, monocytopenia	HPV		Y
P0841	c.1009C>T	p.Arg337X	stop_gained	Novel	PAT	familial	2023	37837580		30	cMDS-LB	F	9	monosomy 7	inverted CD4/CD8 ratio, leukopenia, neutropenia, monocytopenia, autoimmunity	HPV
P0842	c.257_258del	p.Cys85fsX?	frameshift_variant	Novel	PAT	unknown	2023	37837580		31	cMDS-LB	M	9	monosomy 7	neutropenia, monocytopenia , autoimmunity	HPV, other viral infection
P0843	c.649C>T	p.Leu217Leu	synonymous_variant	1.352E-05	VUS	unknown	2020	32555368		P4 (LT)	MDS-RCC	M	3	monosomy 7
P0844	c.950A>G	p.Asn317Ser	missense_variant	Novel	VUS	unknown	2021	33560389		MPN patient	PMF	F	38	t(3;12)(p21;p13)		cutaneous herpes zoster					JAK2 V617F
P0845	c.121C>G	p.Pro41Ala	missense_variant	0.0005068	VUS	unknown	2018	29365323		35	hypereosinophilia (spectrum 1)	M	NA	NA
P0846	c.121C>G	p.Pro41Ala	missense_variant	0.0005068	VUS	unknown	2018	29797310		14	hematological abnormality, immunodeficiency	F	NA	NA	B cell deficiency, recurrent fever, B cell count low	oral aphtous lesions
P0847	c.1024G>A	p.Ala342Thr	missense_variant	2.704E-05	VUS	unknown	2014	24033149		Pt2	AML-M0	F	7	NA							NRAS (VUS)
P0848	c.1086_1087ins63	p.Asn363delins22	inframe_insertion	Novel	VUS	unknown	2019	31340620		Patient ID#10	AML	M	14	monosomy 7							GATA2 (VUS)
P0849	c.1143+8C>T	p.?	splice_region_variant	2.703E-05	VUS	unknown	2021	33715335		Patient 1	AML, MDS	F	21	NA		chronic hepatitis B, HPV		Y
P0850	c.1286G>C	p.Ser429Thr	missense_variant	3.379E-05	VUS	unknown	2019	31340620		Patient ID#3	MDS-RCC	M	3	normal
P0851	c.610C>T	p.Arg204X	stop_gained	Novel	PAT	familial	2021	33410496	39497062	Chinese Han woman	HLH	F	17	NA	recurrent fever, decreased NK cell activity, panniculitis, low B, NK cell count, low DC, erythema nodosum	VZV		Y		pleural effusion
P0852	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	familial	2018	29412158		MRD 1	MDS	M	24	normal		skin/genital HPV	Y
P0853	c.1123delinsCT	p.Leu375Ser	inframe_insertion	Novel	VUS	unknown	2018	29412158		URD 3	AML	F	25	trisomy 8, trisomy 20	Behcet's disease
P0854	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2018	29412158		URD 6	MDS	M	21	monosomy 7		HPV	Y
P0855	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2018	29412158		URD 10	MDS	F	28	normal		genital HPV	Y
P0856	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2018	29412158		URD 13	MDS	M	30	monosomy 7		hand-foot-mouth virus
P0857	c.1009C>T	p.Arg337X	stop_gained	Novel	PAT	unknown	2018	29412158		Haplo 1	MDS, Emberger-syndrome	F	45	normal		HPV		Y
P0858	c.1021del	p.Ala341ProfsX46	frameshift_variant	Novel	PAT	unknown	2018	29412158		Haplo 4	MDS	M	26	normal		HPV, west Nile encephalitis
P0859	c.803del	p.Gly268fsX?	frameshift_variant	Novel	PAT	unknown	2018	29412158		Haplo 5	MDS	F	34	normal		genital HPV	Y
P0860	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2018	29412158		Haplo 6	MDS	F	16	normal		labial HSV
P0861	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2018	29412158	39497062	Haplo 7	MDS, HLH	F	17	trisomy 8	HLH	CMV, parvovirus
P0862	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2023	36740376		index case	MonoMAC	M	28	normal	intermittent fever, inverted CD4/CD8 ratio, mild hypogammaglobulinemia, low T cell, B cell, NK cell count		Y			cough, white mucous sputum, shortness of breath after activity, PAP
P0863	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2022	36815365		index case	SCID, GATA2 deficiency, donor-derived Ph+ ALL	F	0	normal	low/absent B, low T, NK cell counts
P0864	c.1009C>T	p.Arg337X	stop_gained	Novel	PAT	familial	2023	36726998		index case	MDS-AML	F	9	monosomy 7		flat HPV on hand
P0865	GATA2 haploinsufficiency	GATA2 haploinsufficiency	transcript_ablation	Novel	PAT	unknown	2022	37799757		index case	MDS, immunodeficiency	M	56	NA	low B, NK cell count
P0866	c.1047T>G	p.Cys349Trp	missense_variant	Novel	LPAT	familial	2022	34793614		index case	BCP-ALL, GATA2 deficiency	F	4	NA	inverted CD4/CD8 ratio, low B, T, NK cell count
P0867	c.445G>A	p.Gly149Arg	missense_variant	8.112E-05	VUS	unknown	2023	35983050		P13	MDS-EB2	M	55	normal	low B, NK cell count, monocytopenia
P0867	c.1073C>T	p.Thr358Ile	missense_variant	Novel	LPAT	unknown	2023	36815365		P13	MDS-EB2	M	55	normal	low B, NK cell count, monocytopenia
P0868	c.1156_1157insAC	p.Leu386HisfsX2	frameshift_variant	Novel	PAT	unknown	2023	36815365		P14	MDS	F	29	normal	low B, NK cell count, monocytopenia						STAG2, ASXL1
P0869	c.1035_1036insTCGGCGGCC	p.Gly346insSerAlaAla	inframe_insertion	Novel	VUS	unknown	2023	36815365		P15	MDS	F	34	normal	monocytopenia						STAG2, ASXL1
P0870	c.1163T>C	p.Met388Thr	missense_variant	Novel	LPAT	familial	2023	36815365		P16	GATA2 deficiency, deafness	M	40	normal					Y
P0871	c.1163T>C	p.Met388Thr	missense_variant	Novel	LPAT	familial	2023	36815365		P17	asymptomatic	M	75	normal
P0872	c.1163T>C	p.Met388Thr	missense_variant	Novel	LPAT	familial	2023	36815365		P18	AML	F	39	normal	monocytopenia
P0873	c.351C>G	p.Thr117Thr (r.Val118GlnfsX55)	splice_donor_variant	Novel	PAT	unknown	2023	36815365		P19	asymptomatic	M	49	normal	monocytopenia
P0874	c.1124T>A	p.Leu375His	missense_variant	Novel	LPAT	unknown	2025	40664679		A154	MDS-EB	M	12.7	normal
P0875	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2025	40664679		A175	MDS-RCC	M	10.2	trisomy 8
P0876	c.1114G>A	p.Ala372Thr	missense_variant	Novel	LPAT	unknown	2025	40664679		A161	MDS-EB	M	12.4	normal
P0878	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	unknown	2025	40664679		D1595	MDS-EB	F	7.3	monosomy 7 + add
P0879	c.1125_1126insG	p.Tyr376ValfsX8	frameshift_variant	Novel	PAT	unknown	2025	40664679		D1621	MDS-EB	M	13.2	monosomy 7							ASXL1, ASXL1, SETBP1
P0880	c.818del	p.Gly273AspfsX53	frameshift_variant	Novel	PAT	unknown	2025	40664679		D1630	MDS-RCC	M	16.0	monosomy 7
P0881	c.1017+2T>C	p.? (r.Ser340AlafsX49)	splice_donor_variant	Novel	PAT	unknown	2025	40664679		D1631	MDR-AML	M	12.9	monosomy 7 + add
P0882	c.1114G>A	p.Ala372Thr	missense_variant	Novel	LPAT	unknown	2024	38993648	40664679	D1637 / Case 5	AML	M	7.7	monosomy 7	neutropenia					ARDS	CUX1, IKZF1
P0883	c.161C>A	p.Ser54X	stop_gained	Novel	PAT	unknown	2025	40664679		D1651	MDS-RCC	M	13.9	monosomy 7
P0884	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2025	40664679		D1660	MDS-RCC	M	4.0	normal
P0885	c.229+1dup	p.?	splice_donor_variant	Novel	LPAT	unknown	2024	38993648	40664679	D1663 / Case 2	MDS/MPS	F	16.2	monosomy 7							ASXL1, ASXL1, SETBP1, WT1
P0886	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2025	40664679		D1676	MDS-RCC	M	1.7	normal
P0887	c.1113C>A	p.Asn371Lys	missense_variant	Novel	PAT	unknown	2025	40664679		D1685	MDS-RCC	F	14.5	normal
P0888	c.449dup	p.Gly151ArgfsX34	frameshift_variant	Novel	LPAT	unknown	2025	40664679		D1686	MDS-EB	M	8.6	monosomy 7							STAG2
P0889	c.1312G>T	p.Ala438Ser	missense_variant	1.352E-05	VUS	familial	2025	40664679		D1689	MDS-RCC	M	8.8	normal
P0890	c.1312G>T	p.Ala438Ser	missense_variant	1.352E-05	VUS	unknown	2025	40664679		20996	GATA2 deficiency	M	41.0	NA
P0891	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	unknown	2025	40664679		DK106	MDS-RCC	F	8.0	monosomy 7
P0892	c.1402G>A	p.Gly468Ser	missense_variant	1.353E-05	VUS	unknown	2025	40664679		GR025	MDS-RCC	M	7.8	normal
P0893	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	2024	38993648	40664679	20367 / Case 4	GATA2 deficiency	F	23.8	normal							ASXL1
P0894	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2025	40664679		20845	GATA2 deficiency	F	6.8	normal
P0895	c.1129_1131dup	p.Tyr377dup	inframe_insertion	Novel	VUS	unknown	2025	40664679		20864	MDS-EB	M	10.3	normal
P0896	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	unknown	2025	40664679		20658	MDS-EB	F	11.5	monosomy 7							GATA2, GATA2
P0897	c.1080G>A	p.Trp360X	stop_gained	Novel	PAT	unknown	2025	40664679		20375	MDS-EB	M	10.5	monosomy 7							ASXL1, EZH2, SETBP1
P0899	c.177C>A	p.Tyr59X	stop_gained	Novel	PAT	familial	2025	40664679		19221	MDS	F	7.2	monosomy 7							EZH2, RUNX1, RUNX1, SETBP1
P0900	c.177C>A	p.Tyr59X	stop_gained	Novel	PAT	unknown	2025	40664679		19222	GATA2 deficiency	F	34.2	NA
P0901	c.1114G>A	p.Ala372Thr	missense_variant	Novel	LPAT	unknown	2025	40664679		20205	MDS-RCC	F	24.5	NA
P0902	c.857C>T	p.Ala286Val	frameshift_variant	Novel	PAT	familial	2017	28104920	29365323, 37406166	sister of 30 / Family_0148.001	MDS	F	43	NA							STAG2, STAG2
P0903	c.630_643del	p.Lys212ThrfsX?	frameshift_variant	Novel	PAT	familial	2023	37406166		Family_00B4.044	MDS-EB1	F	16	NA							KRAS, ASXL1
P0904	c.1082G>C	p.Arg361Leu	missense_variant	Novel	LPAT	familial	2023	37406166		relative of Emb-07 I-1 / Family_52_4	MDS	NA	NA	NA							HOXA11
P0905	c.1082G>C	p.Arg361Leu	missense_variant	Novel	LPAT	familial	2023	37406166		relative of Emb-07 I-1 / Family_52_5	MDS	NA	NA	NA
P0906	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2015	26492932		1001-003	asymptomatic	M	58	NA
P0907	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2023	37406166		Family_53_1	asymptomatic	F	73	NA
P0908	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2023	37406166		Family_53_2	NA	M	47	NA
P0909	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2023	37406166		Family_53_3	asymptomatic	M	44	NA							DNMT3A
P0910	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2023	37406166		Family_53_5	asymptomatic	F	NA	NA
P0911	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2023	37406166		Family_53_7	MDS	NA	20	NA
P0912	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2023	37406166		Family_53_8	hematological abnormality	F	16.5	NA							KDM5A
P0913	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Novel	PAT	unknown	2024	38317027		Case 10	GATA2 deficiency, hematological abnormality	M	30	NA	fever, monocytopenia, CD4 cells low		Y			pulmonary infiltrates
P0914	c.1009C>T	p.Arg337X	stop_gained	Novel	PAT	familial	2024	38205536		family #15 sibling 1 33	AML-M4	NA	NA	NA
P0915	c.1009C>T	p.Arg337X	stop_gained	Novel	PAT	familial	2024	38205536		family #15 sibling 2 269	AML-M7	NA	NA	NA
P0916	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	unknown	2023	38137719		A15	MDS	M	22	trisomy 8		HPV on nostrils
P0917	c.1168_1170del	p.390delLys	inframe_deletion	Novel	LPAT	unknown	2023	38137719		A19	MDS-IB2, AML	M	27	normal							SF3B1, U2AF1
P0918	c.423_426del	p.Tyr141fsX?	frameshift_variant	Novel	LPAT	unknown	2023	38137719		A20	MDS-IB1	M	28	trisomy 1, der(1;7)(q10;p10), trisomy 3, trisomy 8, trisomy 9, trisomy 19							STAG2
P0919	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Novel	PAT	unknown	2023	37970879		CASE REPORT 1	immunodeficiency	M	37	NA	fever, inverted CD4/CD8 ratio, neutropenia, low B, NK cell count,, low CD4 cell count, rheumatoid arthritis
P0920	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	NA	2024	37802913		SOMATIC GATA2 MUTATION PATIENT / 44-year-old woman	DCML	F	44	NA	fever, leukopenia, monocytopenia, low B, T cell count					interstitial pneumonia with plasma cell infiltration, PAP
P0921	c.599dup	p.Ser201X	frameshift_variant	Novel	PAT	unknown	2023	37680631	39497062	Chinese Han man	HLH, hematological abnormality	M	28	NA	intermittent fever, HLH, leukopenia, monocytopenia, neutropenia, low NK cell count, erythema nodosum		Y
P0922	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	unknown	2024	37641896		Japanese woman	GATA2 deficiency	F	55.0	NA	inverted CD4/CD8 ratio, leukopenia, monocytopenia, low CD4 T, NK cell counts, Behcet's disease?, erythema nodosum, sarcoidosis	HPV, oral aphtous ulcers			Y
P0923	-110 region enhancer A>T	-110 region enhancer A>T	regulatory_region_variant	Novel	VUS	familial	2023	37595058		second cousin 1	MDS-RCC	F	38.0	trisomy 8	low B, NK cell count, leukopenia, monocytopenia	disseminated HSV2, genital HPV
P0924	-110 region enhancer A>T	-110 region enhancer A>T	regulatory_region_variant	Novel	VUS	familial	2023	37595058		second cousin 2	aplastic anemia	M	34.0	trisomy 8	serum sickness after H-ATG and cyclosporine, low B, NK cell count, leukopenia, monocytopenia
P0925	c.1045T>A	p.Cys349Ser	missense_variant	Novel	LPAT	unknown	2023	38067298		I377	MDS-RCC	NA	NA	NA
P0926	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Novel	PAT	unknown	2023	37727920		Patient 3	secondary HLH, monoMAC	F	18	NA	persistent fever, leukopenia		Y			persistent cough
P0928	c.783_787dup	p.Gly263AlafsX65	frameshift_variant	Novel	LPAT	unknown	2025	40664679		BOS-02	MDS w/ Monosomy 7	M	14.5	monosomy 7	neutropenia						STAG2, RAD21 (VUS), SMC1A (VUS)
P0930	c.437del	p.Gly146ValfsX72	frameshift_variant	Novel	PAT	unknown	2025	40664679		BOS-04	Monosomy 7 MDS-EB1	F	8.1	monosomy 7, trisomy 21	severe neutropenia	4 months of cold symptoms prior to diagnosis					WT1, GATA2, ETV6 (VUS)
P0932	c.988C>T	p.Arg330X	stop_gained	Novel	PAT	unknown	2025	40664679		BOS-06	GATA2 deficiency, monoMAC	F	19	normal	B/NK cell counts low, monocytopenia, ANA-positive polyarthritis	EBV	Y				STAG2, CTNNB1 (VUS), SH2B3 (VUS)
P0933	c.610C>T	p.Arg204X	stop_gained	Novel	PAT	unknown	2025	40664679		BOS-07	Monosomy 7 AML	M	5.5	monosomy 7	neutropenia						JAK2, CSF3R, KRAS, WT1, WT1
P0934	c.610C>T	p.Arg204X	stop_gained	Novel	PAT	unknown	2025	40664679		BOS-08	cytopenia	M	2	normal	B cell count low, neutropenia, monocytopenia				Y
P0935	c.128_153del	p.Asp43AlafsX133	frameshift_variant	Novel	LPAT	unknown	2025	40664679		BOS-09	MDS w/ Monosomy 7	F	11	monosomy 7	neutropenia, monocytopenia	CMV, norovirus, VZV		Y			ASXL1, GATA2, NRAS, NRAS, PTPN11, SETBP1, CUX1 (VUS), SP3A1 (VUS)
P0936	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	unknown	2025	40664679		BOS-10	GATA2 deficiency	F	16	NA	neutropenia, psoriasis	viral syndrome
P0939	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2025	40664679		BOS-13	GATA2 deficiency	F	17.5	low-level monosomy 7
P0940	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2025	40664679		BOS-14	MDS/AML	F	47	trisomy 8	neutropenia
P0941	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2025	40664679		BOS-15	5q- MDS	F	10	5q31 deletion							CEBPA
P0944	c.405_409delinsGTA	p.Gly136TyrfsX48	frameshift_variant	Novel	PAT	familial	2025	40664679		SJG2001	MDS	F	9.0	normal	inverted CD4/CD8 ratio, B cell lymphopenia			Y
P0945	c.1096G>A	p.Gly366Arg	missense_variant	6.758E-06	VUS	unknown	2025	40664679		SJG2002	symptomatic	M	32.0	NA	lymphopenia	frequent HPV
P0946	c.1096G>A	p.Gly366Arg	missense_variant	6.758E-06	VUS	familial	2025	40664679		SJG2003	severe neutropenia	M	1.5	normal
P0947	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	familial	2025	40664679		SJG2004	MDS	M	7.0	trisomy 8	prolonged infections ('stays sicker longer'), no NK	HPV
P0948	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	familial	2025	40664679		SJG2005	cytopenia, immunodeficiency	M	16.0	normal	allergic rhinitis, inverted CD4/CD8 ratio, lymphopenia, monocytopenia, no NK cells	HPV			Y
P0950	c.1078T>A	p.Trp360Arg	missense_variant	Novel	PAT	familial	2025	40664679		SJG2007	MDS, AML	M	10.0	monosomy 7, trisomy 8	inverted CD4/CD8 ratio, B, NK cell counts low, 'gets sicker easier than his siblings'	severe COVID19 infection, mononucleosis		Y			ASXL1, BCOR, GATA2, KRAS, NRAS, RUNX1, SMC1A, CDKN1C
P0951	c.569del	p.Ala190ValfsX28	frameshift_variant	Novel	LPAT	unknown	2025	40664679	34469508	SJG2008 / P15	MDS-EB, AML-MRC	F	15.0	trisomy 1, der(1;7)(q10;p10), trisomy 8	allergic rhinitis, inverted CD4/CD8 ratio, B, NK cell counts low	HPV					SETBP1, MYB, EZH2
P0952	c.437del	p.Gly146ValfsX72	frameshift_variant	Novel	PAT	unknown	2025	40664679		SJG2009	MDS, AML	F	8.0	monosomy 7	prolonged cold symptoms
P0953	c.1018-1G>T	p.?	splice_acceptor_variant	Novel	PAT	familial	2025	40664679		SJG2010	asymptomatic	F	3.0	NA
P0954	c.1018-1G>T	p.?	splice_acceptor_variant	Novel	PAT	familial	2025	40664679		SJG2011	asymptomatic	M	10.0	NA
P0955	c.1018-1G>T	p.?	splice_acceptor_variant	Novel	PAT	familial	2025	40664679		SJG2012	MDS	F	5.0	trisomy 8, trisomy 21	recurrent buccal and vulvar ulcers	HPV, bronchitis
P0956	c.1018-1G>T	p.?	splice_acceptor_variant	Novel	PAT	unknown	2025	40664679		SJG2013	GATA2 deficiency, mild phenotype	F	42.0	NA	IgG slightly decreased			Y
P0970	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2025	40664679		SJG2028	MDS, immunodeficiency	M	34	normal	B, NK, T cell counts low	HPV driven condyloma acuminata, warts		Y	Y		STAG2, STAG2
P0971	GATA2 locus duplication	GATA2 locus duplication	transcript_ablation	Novel	PAT	familial	2021	34638133		3-year-old girl	MDS, immunodeficiency	F	3	trisomy 8	B, NK cell counts low, monocytopenia		Y		Y	chronic respiratory illness with persistent cough, fatigue, nodular and ground glass infiltrates, and reduced diffusion capacity
P0972	uniallelic expression of GATA2	uniallelic expression of GATA2	transcript_ablation	Novel	PAT	unknown	2014	25111582	27169477, 29375553, 39497062	Haplo 14 / Patient 14	HLH, EBV+ T cell lymphoproliferative disorder	F	20	normal	HLH	EBV hydroa vacciniforme
P0973	c.1114G>A	p.Ala372Thr	missense_variant	Novel	LPAT	de novo	2024	38730328	39497062	Patient 1	HLH	M	28	normal	fever, HLH, lymphopenia, monocytopenia	EBV	Y
P0974	c.1150A>G	p.Arg384Gly	missense_variant	Novel	LPAT	de novo	2024	38730328	39497062	Patient 2	HLH, MDS	F	22	normal	fever, HLH, lymphopenia, monocytopenia	EBV
P0975	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	unknown	2024	38730328	39497062	Patient 3	HLH	M	26	NA	fever, HLH, lymphopenia, monocytopenia	EBV	Y
P0976	c.177C>A	p.Tyr59X	stop_gained	Novel	PAT	unknown	2021	34040617	39497062	student	HLH	F	29	NA	fever, HLH, lymphopenia, monocytopenia, neutropenia		Y
P0977	c.1009C>T	p.Arg337X	stop_gained	Novel	PAT	unknown	2021	34473915	39497062	11-year-old girl	HLH	F	11	NA	HLH	EBV	Y			bronchiectasis, progressive respiratory failure
P0978	c.1077_1078insA	p.Trp360MetfsX24	frameshift_variant	Novel	PAT	familial	2018	29493060	39497062	14-year-old male	MDS, HLH	M	14	normal	prolonged fever, HLH, leukopenia		Y
P0979	NA	p.Arg230HisfsX44	frameshift_variant	Novel	LPAT	unknown	2018	29618691	39497062	18-year-old	MDS-RCMD, HLH	M	18	normal	HLH	EBV					STAG2
P0980	NA	NA	NA	NA	NA	unknown	2018	28093780	29375553	29-year-old woman	MDS, immunodeficiency	F	29	NA	hidradenitis suppurativa, neutropenia	HPV, chicken pox, Condyloma acuminatum, EBV
P0981	c.1081C>T	p.Arg361Cys	missense_variant	6.759E-06	LPAT	unknown	2024	39328578		12-year-old	sterile granulomatous lung disease	M	12	NA	fever, sterile granulomatous lung disease, lymphocytopenia, monocytopenia, autoimmune encephalitis					bilateral ground-glass opacities
P0982	c.1180C>T	p.Gln394X	stop_gained	Novel	PAT	unknown	2024	39221430		adopted 14-year-old	cytopenia	M	14	normal	inverted CD4/CD8 ratio, mild hypogammaglobulinemia, low B, T, NK cell counts, monocytopenia	HPV			Y
P0983	10.4 Mb interstitial deletion on 3q12.33q22.1	10.4 Mb interstitial deletion on 3q12.33q22.1	transcript_ablation	Novel	PAT	unknown	2024	38567931		4-year-old female	neurodevelopmental symptoms	F	4	NA
P0984	NA	NA	NA	NA	NA	unknown	2024	38563709		24-year-old female	HLH	F	24	NA	fever, granulomatous necrotizing inflammation, HLH, joint pain, low B, T, NK cell counts, monocytopenia	CMV
P0985	c.1114G>A	p.Ala372Thr	missense_variant	Novel	LPAT	unknown	2021	34051752		39-year-old woman	cytopenia	F	38	normal	fever, noncaseating granulomas, leukopenia	recurrent HPV	Y			dyspnea, bilateral pleural effusion
P0986	c.354dup	p.Ser119GlufsX66	frameshift_variant	Novel	LPAT	unknown	2022	36119727		30-year-old woman	cytopenia	F	30	normal		COVID-19	Y	Y		pulmonary emphysema, lung interstitium involvement, central bronchiectasia	BCOR, ATM
P0987	c.917G>A	p.Trp306X	stop_gained	Novel	PAT	de novo	2024	38191334		N10	MDS-EB, AML	M	13	monosomy 7	leukopenia						GATA2, RUNX1
P0988	NA	NA	NA	NA	NA	unknown	2024	38191334		N12	MDS-EB	F	10	NA							SETBP1, ASXL1
P0995	c.194_195insT	p.Ala66ArgfsX119	frameshift_variant	Novel	LPAT	unknown	2024	38951071		16-year-old female	MonoMAC	F	16	normal	fever, monocytopenia, leukopenia	rhinovirus, HSV-1, EBV	Y			PAP
P0996	NA	NA	NA	NA	NA	unknown	2023	37550272		40-year-old man	AML	M	40	monosomy 7	febrile neutropenia			Y		PAP
P0997	c.1168_1170del	p.390delLys	inframe_deletion	Novel	LPAT	unknown	2022	35891688		81-year-old man	MDS-IB, CML?, MonoMAC	M	81	t(1;6)(q21;p21), t(13;14)	fever, neutropenia, lymphopenia	hepatitis	Y				GATA2, ASXL1, MPL, U2AF1
P0998	c.1075_1102del	p.Trp360SerfsX18	frameshift_variant	Novel	LPAT	unknown	2025	40153067		Family 2, Patient 3 (II-2)	G2BMID	F	26	NA		extensive HPV, verrucous plaques, severe COVID-19		Y	Y	ARDS
P0999	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	familial	2025	40264496		26-year-old female	infections	F	26	NA	lymphopenia, monocytopenia, low B cell count, erythema nodosum				Y	interstitial lung disease
P1000	c.1113C>A	p.Asn371Lys	missense_variant	Novel	PAT	unknown	2025	40311177		25-year-old man	pulmonary disease	M	25	NA	lymphopenia, monocytopenia	diffuse molluscum contagiosum				interstitial lung disease, PAP
P1001	c.317_318del	p.Ser106CysfsX78	frameshift_variant	Novel	LPAT	unknown	2019	30478525		43-year-old woman	MDS-LB	F	43	trisomy 8, trisomy 1, der (1;7)(q10; p10)	asthma, monocytopenia, low B, T, NK cell counts, guttate psoriasis, erythema nodosum	anogenital HPV	Y			PAP
P1002	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Novel	PAT	familial	2022	34529785		126.III.4 / 24	MDS	F	NA	trisomy 8
P1003	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Novel	PAT	familial	2022	34529785		126.III.23 / 26	MDS	M	NA	trisomy 8							STAG2, STAG2
P1004	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Novel	PAT	familial	2022	34529785		126.II.8 / 27	asymptomatic	F	NA	normal
P1005	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Novel	PAT	familial	2022	34529785		126.II.4 / 28	asymptomatic	M	NA	normal
P1006	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2022	34529785		48.II.11	asymptomatic	F	NA	normal							CUX1, DNMT3A, KMT2A, KMT2A, U2AF1
P1007	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2022	34529785		48.III.14	G2BMID	F	NA	der(1;14)(q10;p10), trisomy 21							STAG2
P1008	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2022	34529785		48.II.6	asymptomatic	F	NA	normal
P1009	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2022	34529785		48.II.2	asymptomatic	F	NA	normal
P1010	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2022	34529785		48.II.8	asymptomatic	M	NA	normal
P1011	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2022	34529785	34089740	51.III.1	G2BMID	F	24	normal							ASXL1
P1012	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	2022	34529785		51.II.1	asymptomatic	M	NA	normal
P1013	c.1082G>C	p.Arg361Leu	missense_variant	Novel	LPAT	familial	2022	34529785		52.II.4	G2BMID	F	NA	normal							BCL9
P1014	c.1082G>C	p.Arg361Leu	missense_variant	Novel	LPAT	familial	2022	34529785		52.II.5	G2BMID	F	NA	normal
P1015	c.1082G>C	p.Arg361Leu	missense_variant	Novel	LPAT	familial	2022	34529785		P1018	MDS	M	NA	normal							STAG2
P1016	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	2022	34529785		349.II.4	MDS	F	NA	trp(1)(q21q32)							DNMT3A, DNMT3A, U2AF1
P1017	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2022	34529785	34089740	349.IV.5	G2BMID	M	30	normal
P1018	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2022	34529785		349.III.16	MDS	F	NA	trisomy 8
P1019	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2022	34529785		349.IV.7	G2BMID	F	NA	normal
P1020	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2022	34529785		4.III.4	MDS	M	NA	monosomy 7, trisomy 8
P1021	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2022	34529785		4.III.5	CMML	M	NA	monosomy 7							ASXL1, SETBP1, U2AF1
P1022	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2022	34529785		1.III.2	asymptomatic	M	NA	normal							DNMT3A
P1023	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2022	34529785	34089740	1.IV.1	G2BMID	F	17	normal
P1024	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2022	34529785		368.I.1	asymptomatic	F	NA	NA							DNMT3A
P1025	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2022	34529785		368.II.1	MDS	M	NA	monosomy 7
P1026	c.802G>T	p.Gly268X	stop_gained	Novel	PAT	unknown	2022	34529785		129.I.1	MDS	F	NA	del(13)(q12q14)
P1027	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Novel	PAT	unknown	2022	34529785		159.I.1	AML	F	NA	trisomy 8, monosomy 13							KMT2A, MECOM
P1028	c.1021del	p.Ala341ProfsX46	frameshift_variant	Novel	PAT	familial	2022	34529785		203.I.1	G2BMID	M	NA	normal							DNMT3A
P1029	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	unknown	2022	34529785		216.I.1	MDS	F	NA	der(1;7)(q10;p10), 1+der(1;13)(q10;q10), trisomy 8, monosomy X							ASXL1
P1030	c.1114G>A	p.Ala372Thr	missense_variant	Novel	LPAT	de novo	2022	34529785		218.I.1	MDS	F	NA	trisomy 8							DNMT3A
P1031	c.803del	p.Gly268fsX?	frameshift_variant	Novel	PAT	de novo	2022	34529785		233.I.1	G2BMID	F	NA	normal
P1032	c.1123C>T	p.Leu375Phe	missense_variant	Novel	LPAT	de novo	2022	34529785	34089740	256.I.1	AML	F	25	trisomy 8, trisomy 20							NRAS
P1033	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	familial	2022	34529785	34089740	270.I.1	G2BMID	M	NA	normal							BCOR
P1034	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	de novo	2022	34529785	34089740	277.I.1	MDS	F	18	trisomy 8
P1035	c.1186C>T	p.Arg396Trp	missense_variant	Novel	LPAT	unknown	2022	34529785		281.I.1	MDS	F	NA	inv(9)(p12q13)							ASXL1
P1036	c.58C>T	p.Gln20X	stop_gained	Novel	PAT	familial	2022	34529785	34469508	283.II.1 / P12	MDS-MLD	F	23	der(1;7)(q10:p10)		HPV	Y				STAG2, RUNX1, BCOR
P1037	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	de novo	2022	34529785		291.I.1	MDS	M	NA	monosomy 7							STAG2
P1038	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Novel	PAT	unknown	2022	34529785		293.I.1	AML	M	NA	der(5) t(5;13)(q13q13)
P1039	c.1018_1034del	p.Ser340fsX	frameshift_variant	Novel	PAT	de novo	2022	34529785	34089740	324.I.1	MDS	F	NA	trisomy 8							STAG2
P1040	c.898dup	p.Ala300GfsX83	frameshift_variant	Novel	LPAT	familial	2022	34529785		330.I.1	MDS	F	NA	normal							ASXL1, BCOR
P1041	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2022	34529785		335.II.1	asymptomatic	F	NA	normal
P1042	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2022	34529785		335.III.1	MDS	F	NA	normal
P1043	c.921dup	p.Arg308AlafsX?	frameshift_variant	Novel	LPAT	unknown	2022	34529785		337.I.1	G2BMID	F	NA	normal							STAG2
P1044	c.1159_1160dup	p.Met388fsX?	frameshift_variant	Novel	PAT	familial	2022	34529785		340.II.1	G2BMID	M	NA	monosomy 7, der(1;7)(q10;p10), del(13)(q12q22)							STAG2‡
P1045	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2022	34529785		342.I.1	MDS	M	NA	monosomy 7							SAMD9, SETBP1, U2AF1
P1046	c.1017+2T>A	p.?	splice_donor_variant	Novel	PAT	de novo	2022	34529785		347.I.1	MDS	F	NA	normal							STAG2
P1047	c.248del	p.Gln83ArgfsX?	frameshift_variant	Novel	PAT	de novo	2022	34529785		350.I.1	MDS	F	NA	normal
P1048	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	de novo	2022	34529785	34089740	351.I.1	MDS	F	17	normal
P1049	c.1017+1G>T	p.?	splice_donor_variant	Novel	LPAT	unknown	2022	34529785		357.I.1	MDS	F	NA	trisomy 8							ASXL1
P1050	c.1017+1G>T	p.?	splice_donor_variant	Novel	LPAT	familial	2022	34529785	34089740	357.II.1	MDS	F	NA	monosomy 7							RUNX1
P1051	c.1024_1025insGCCG	p.Ala342GlyfsX	frameshift_variant	Novel	LPAT	unknown	2022	34529785	34089740	360.I.1	G2BMID	F	20	normal							STAG2
P1052	c.247C>T	p.Gln83X	stop_gained	Novel	PAT	de novo	2022	34529785		362.I.1	MDS	F	NA	monosomy 7							STAG2, STAG2
P1053	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	low B, DC counts, monocytopenia						STAG2, STAG2
P1054	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Novel	PAT	unknown	2022	34529785		367.I.1	MDS	F	NA	trisomy 8
P1055	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Novel	PAT	unknown	2022	34529785		370.I.1	MDS	F	NA	normal							ASXL1, RUNX1
P1056	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2022	34529785		375.I.2	MDS	F	NA	(1)t(1;15), trisomy 8							ASXL1, CUX1, RAD21
P1057	c.1021del	p.Ala341ProfsX46	frameshift_variant	Novel	PAT	unknown	2022	34529785	34089740	378.I.1	MDS	M	12	normal							BCOR
P1058	c.1277C>G	p.Ser426Cys	missense_variant	Novel	VUS	unknown	2022	34529785		379.I.1	G2BMID	F	NA	normal
P1059	c.1061C>A	p.Thr354Lys	missense_variant	Novel	LPAT	familial	2022	34529785	34089740	382.I.2	MDS	F	22	normal
P1060	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2022	34529785		384.I.1	MDS	F	NA	monosomy 7							ASXL1
P1061	c.1024_1025insG	p.Ala342GlyfsX	frameshift_variant	Novel	LPAT	unknown	2022	34529785	34089740	389.I.1	G2BMID	F	31	normal
P1062	c.1009C>T	p.Arg337X	stop_gained	Novel	PAT	de novo	2022	34529785		390.I.1	G2BMID	F	NA	normal							ASXL1, STAG2
P1063	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	familial	2022	34529785	34089740	393.II.1	G2BMID	F	22	normal
P1064	c.1114G>A	p.Ala372Thr	missense_variant	Novel	LPAT	unknown	2022	34529785		394.I.1	G2BMID	M	NA	normal
P1065	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	familial	2022	34529785		47.I.1	asymptomatic	F	NA	normal
P1066	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	familial	2022	34529785		49.III.2	G2BMID	F	NA	normal
P1067	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2022	34529785		53.V.3	MDS	F	NA	normal							ETV6
P1068	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	familial	2022	34529785		53.V.4	G2BMID	F	NA	normal
P1069	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	de novo	2022	34529785		65	G2BMID	F	NA	normal							NOTCH2
P1070	c.680_683del	p.Ser227fsX?	frameshift_variant	Novel	PAT	de novo	2022	34529785		66	G2BMID	F	NA	normal							STAG2
P1071	c.1150del	p.Arg384GlyfsX3	frameshift_variant	Novel	PAT	de novo	2022	34529785		71	G2BMID	M	NA	normal
P1072	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	de novo	2022	34529785		77	G2BMID	F	NA	normal
P1073	c.1192C>T	p.Arg398Trp	missense_variant	Novel	PAT	familial	2022	34529785		80	G2BMID	F	NA	normal
P1074	c.840del	p.Lys281SerfsX?	frameshift_variant	Novel	PAT	de novo	2022	34529785		82	G2BMID	F	NA	normal
P1075	c.1187G>A	p.Arg396Gln	missense_variant	Novel	PAT	familial	2022	34529785		95	MDS	F	NA	normal							ASXL1
P1076	c.839del	p.Phe280LeufsX?	frameshift_variant	Novel	LPAT	unknown	2022	34529785		101	MDS	M	NA	trisomy 8
P1077	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	de novo	2022	34529785		104	G2BMID	M	NA	normal							STAG2, STAG2
P1078	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2021	34469508		P9	MDS unclassified	M	16	der(1;7)(q10;p10), trisomy 1
P1079	c.345dup	p.Trp116LeufsX69	frameshift_variant	Novel	LPAT	unknown	2021	34469508		P14	MDS-EB	M	24	der(1;7)(q10;p10), trisomy 1, trisomy 8		HPV					GATA2, GATA2, IDH2
P1080	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2021	34469508		P17	MDS unclassified	F	31	der(1;7)(q10;p10), trisomy 1, trisomy 8	monocytopenia						SF3B1
P1081	c.1113C>A	p.Asn371Lys	missense_variant	Novel	PAT	unknown	2021	34469508		P18	RCC	M	16	der(1;7)(q10;p10), trisomy 1
P1082	c.803del	p.Gly268fsX?	frameshift_variant	Novel	PAT	unknown	2021	34469508		P19	MDS-EB	F	14	der(1;7)(q10;p10), trisomy 1, trisomy 8							STAG2, STAG2, SETBP1
P1083	c.1021_1024dup	p.Ala342GlyfsX43	frameshift_variant	Novel	PAT	unknown	2021	34469508		P20	AML-MRC	M	24	der(1;7)(q10;p10), trisomy 1, trisomy 8						PAP
P1084	c.971del	p.Lys324ArgfsX2	frameshift_variant	Novel	LPAT	unknown	2021	34469508		P21	RCC	M	14	der(1;7)(q10;p10), trisomy 1	low NK cell count	CMV viremia
P1085	c.1163T>C	p.Met388Thr	missense_variant	Novel	LPAT	unknown	2021	34469508		P22	MDS	M	58	der(1;7)(q10;p10), trisomy 1, del(Y)	monocytopenia						ASXL1
P1086	c.631del	p.Val211SerfsX7	frameshift_variant	Novel	LPAT	unknown	2021	34469508		P23	AML	F	15.8	trisomy 1,der(1;7)(q10;p10),trisomy 8, trisomy 14, trisomy 19, trisomy 2							RUNX1, EZH2
P1087	c.1017+572C>T	p.=	regulatory_region_variant	Novel	LPAT	unknown	2021	34469508		P24	MDS-MLD	M	31	der(1;7)(q10;p10)	low B, NK cell count, monocytopenia	genital HPV					ETNK1
P1088	c.1061C>T	p.Thr354Met	missense_variant	Novel	PAT	unknown	2021	34469508		25	MDS-MLD	M	26	der(1;7)(q10;p10), trisomy 1	low CD, B, NK cell count, monocytopenia		Y				ASXL1, CUX1, STAG2
P1089	GATA2 deficiency	GATA2 deficiency	transcript_ablation	Novel	PAT	unknown	2025	40340131		Patient #3	pulmonary disease	M	23	NA						dyspnea, PAP
P1090	c.1084C>T	p.Arg362X	stop_gained	Novel	PAT	unknown	2025	40388595		GH01_P67	MDS	M	34	normal							STAG2
P1091	c.1082G>A	p.Arg361His	missense_variant	Novel	LPAT	unknown	2025	40725152		Patient 2	RCC, AML	M	10	monosomy 7
P1092	c.16_17insG	p.Glu6GlyfsX179	frameshift_variant	Novel	LPAT	unknown	2025	40725152		Patient 3	RCC	M	1	del(7)(q22q32), monosomy 7
P1093	c.1018_1028del	p.Ser340LysfsX40	frameshift_variant	Novel	PAT	unknown	2025	40725152		Patient 5	MDS/AML	F	11	monosomy 7, del(X)							SETBP1

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