Curated by Sushree Sahoo, PhD. Last updated January 20, 2023

Source  Year of Reporting Presenting Disease Inheritance Patients PMID with overlap cases Germline SAMD9L Mut (cDNA) Germline SAMD9L Mut (Protein) gnomAD v2.1.1 MAF % CADD Score (GRCh37-v1.4) Somatic SAMD9/9L Mut Karyotype; UPD Mutated MDS/Leukemia Genes Constitutional Abnormalities Hematopoietic Phenotype Infections Mutation Effect (HEK293 Assay)
PMID 16960814 2006 NFTC Homozygous P1   c.4483A>G p.K1495E Novel 23.8 NA NA NA Yes NA NA NA
PMID 16960814 2006 NFTC Homozygous P2   c.4483A>G p.K1495E Novel 23.8 NA NA NA Yes NA NA NA
PMID 16960814 2006 NFTC Homozygous P3   c.4483A>G p.K1495E Novel 23.8 NA NA NA Yes NA NA NA
PMID 16960814 2006 NFTC Homozygous P4   c.4483A>G p.K1495E Novel 23.8 NA NA NA Yes NA NA NA
PMID 16960814 2006 NFTC Homozygous P5   c.4483A>G p.K1495E Novel 23.8 NA NA NA Yes NA NA NA
PMID 16960814 2006 NFTC Homozygous P6   c.4483A>G p.K1495E Novel 23.8 NA NA NA Yes NA NA NA
PMID 16960814 2006 NFTC Homozygous P7   c.4483A>G p.K1495E Novel 23.8 NA NA NA Yes NA NA NA
PMID 16960814 2006 NFTC Homozygous P8   c.4483A>G p.K1495E Novel 23.8 NA NA NA Yes NA NA NA
PMID 18094730 2008 NFTC Compound heterozygous P1 (Family1)   c.4483A>G / c.1020C>T p.K1495E / p.R344X Novel 23.8 / 25.1 NA NA NA Yes Yes NA NA
PMID 18094730 2008 NFTC Compound heterozygous P2 (Family1)   c.4483A>G / c.1020C>T p.K1495E / p.R344X Novel 23.8 / 25.1 NA NA NA Yes Yes NA NA
PMID 19760774
PMID 28834235
2010, 2018 MIRAGE Heterozygous P1 PMID 29365320 P6 c.2691A>G p.I897M Novel 21.7 NA Monosomy 7 NA Yes Yes Yes Growth inhibited
PMID 27182967 2016 MIRAGE Heterozygous P1 (Family1)   c.1376G>A p.R459Q Novel 18.54 NA NA NA Yes Yes Yes Growth inhibited
PMID 27182967 2016 MIRAGE Heterozygous P2 (Family2)   c.1376G>A p.R459Q Novel 18.54 NA NA NA Yes Yes Yes Growth inhibited
PMID 27182967 2016 MIRAGE Heterozygous P3 (Family3)   c.2305G>A p.D769N Novel 24.1 NA Normal NA Yes Yes Yes Growth inhibited
PMID 27182967 2016 MIRAGE Heterozygous P4 (Family3) PMID 29365320 P5 c.2305G>A p.D769N Novel 24.1 NA Monosomy 7; trisomy 21 NA Yes Yes Yes Growth inhibited
PMID 27182967 2016 MIRAGE Heterozygous P5 (Family4)   c.2500A>T p.N834Y Novel 26.3 NA NA NA Yes Transient anemia; thrombocytopenia; mild lymphopenia Yes Growth inhibited
PMID 27182967 2016 MIRAGE Heterozygous P6 (Family5)   c.2920G>A p.E974K Novel 24.4 NA NA NA Yes Sustained anemia and thrombocytopenia; mild lymphopenia Yes Growth inhibited
PMID 27182967 2016 MIRAGE Heterozygous P7 (Family6)   c.3584C>T p.A1195V Novel 24.8 NA NA NA Yes Transient anemia and thrombocytopenia Yes Growth inhibited
PMID 27182967 2016 MIRAGE Heterozygous P8 (Family7)   c.3839C>T p.P1280L Novel 16.18 NA Normal NA Yes Transient thrombocytopenia; anemia; mild lymphopenia NA NA
PMID 27182967 2016 MIRAGE Heterozygous P9 (Family8)   c.3856C>A p.Q1286K Novel 18.61 NA NA NA Yes Transient thrombocytopenia; anemia; mild lymphopenia Yes Growth inhibited
PMID 27182967 2016 MIRAGE Heterozygous P10 (Family9)   c.3877C>T p.R1293W Novel 16.21 NA Normal NA Yes Transient thrombocytopenia; anemia; mild lymphopenia Yes Growth inhibited
PMID 27182967 2016 MIRAGE Heterozygous P11 (Family10)   c.3877C>T p.R1293W Novel 16.21 NA Monosomy 7 NA Yes Transient anemia and thrombocytopenia; mild lymphopenia Yes Growth inhibited
PMID 28346228 2017 MIRAGE Heterozygous P1   c.3878G>A p.R1293Q Novel 13.86 No Normal NA Yes NA NA Growth inhibited
PMID 28346228 2017 MIRAGE Heterozygous P2   c.2945G>A p.R982H Novel 21.8 No Normal NA Yes Thrombocytopenia; anemia Yes Growth inhibited
PMID 28346228 2017 MIRAGE Heterozygous P3   c.2944C>T p.R982C MAF 0.00039%  20.2 SAMD9 c.79A>T (p.K27X; cis to germline SAMD9) Normal NA Yes Thrombocytopenia; anemia Yes Growth inhibited
PMID 28346228 2017 MIRAGE Heterozygous P4   c.1376G>A p.R459Q Novel 18.54 No Normal; progressed to monosomy 7 NA Yes NA Yes Growth inhibited
PMID 28346228 2017 MIRAGE Heterozygous P5   c.2944C>T p.R982C MAF 0.00039%  20.2 SAMD9 c.4597C>T (p.R1533X; cis to germline SAMD9) Normal; progressed to monosomy 7 NA Yes NA Yes Growth inhibited
PMID 28346228 2017 MIRAGE Heterozygous P6   c.2054G>A p.R685Q Novel 24.8 No Normal; progressed to monosomy 7 and del(7q) NA Yes Thrombocytopenia; anemia Yes Growth inhibited
PMID 28346228 2017 MIRAGE Heterozygous P7 PMID 29365320 P3 c.4707G>T p.K1569N Novel 15.15 SAMD9 c.1030C>T (p.R344X; cis to germline SAMD9) Normal; progressed to monosomy 7 NA Yes Mild thrombocytopenia Yes Growth inhibited
PMID 28346228 2017 MIRAGE Heterozygous P8 PMIDs 29365320 P4, 34621053 D870 c.2948T>G p.I983S Novel 24.7 SAMD9 c.2294delA (p.N765TfsX13; cis to germline SAMD9) Normal; progressed to monosomy 7 NA Yes Thrombocytopenia Yes Growth inhibited
PMID 29266745 2017 MIRAGE Heterozygous de novo P1   c.2471G>A p.R824Q Novel 17.32 NA Monosomy 7 NA Yes MDS with low IgG Yes Growth inhibited
PMID 29266745 2017 MIRAGE Heterozygous de novo P2   c.3878G>A p.R1293Q Novel 13.86 NA NA NA Yes NA Yes Growth inhibited
PMID 28487541 2017 MDS Heterozygous maternal inheritance P1 (Family1)   c.3406G>C p.E1136Q Novel 16.08 SAMD9 c.661C>T (p.R221X) Monosomy 7 ETV6  Yes Thrombocytopenia; severe neutropenia; macrocytosis NA Growth inhibited
PMID 28487541 2017 MDS Heterozygous maternal inheritance P2 (Family1)   c.3406G>C p.E1136Q Novel 16.08 SAMD9 c.1747C>A (p.F583I) Monosomy 7 NA NA Transient thrombocytopenia NA Growth inhibited
PMID 28487541 2017 MDS Heterozygous maternal inheritance P3 (Family1)   c.3406G>C p.E1136Q Novel 16.08 NA Monosomy 7; UPD7q RAD21  NA Transient thrombocytopenia NA Growth inhibited
PMID 28487541 2017 Asymptomatic Heterozygous Mother of P1-P3   c.3406G>C p.E1136Q Novel 16.08 NA NA NA NA Asynptomatic NA Growth inhibited
PMID 29146900 2017 MDS NA P4 (SJ018211)*   c.2333C>T p.T778I Novel 11.85 NA Monosomy 7; 45,XX,del(5)(q31q33) RIT; ETV6; KCTD10; PTPN11; FREM2; ACACA; SETBP1; ALPP; GAD1; FAM123B NA Refractory anemia NA Growth inhibited
PMID 29175836 2018 MIRAGE Heterozygous de novo P1   c.2165C>A p.A722E Novel 15.43 SAMD9 c.2053C>T (p.R695X) Normal NA Yes Decreased serum level of IgG and IgM Yes NA
PMID 29175836 2018 MIRAGE Heterozygous de novo P2    c.2306A>G p.D769G Novel 24.7 SAMD9 c.115C>T (p.Q39X) Normal NA Yes No hematological features Yes NA
PMID 29146883 2018 Aplastic anemia NA P1 (UB096)*   c.1406A>G p.Y469S Novel 14.73 NA Monosomy 7 NA Yes Aplastic anemia with dysplasia NA NA
PMID 29146883 2018 Refractory cytopenia with multilineage dysplasia Heterozygous de novo P2 (UB136)*   c.1406A>C p.Y469C Novel 18.8 NA Monosomy 7 NA Yes Refractory cytopenia with multilineage dysplasia NA NA
PMID 29146883 2018 Refractory cytopenia with multilineage dysplasia Heterozygous maternal inheritance P3 (UB037)*   c.3558_3562del p.K1186fs Novel NA NA Normal NA Yes Refractory cytopenia with multilineage dysplasia; thrombocytopenia  NA NA
PMID 29146883 2018 Refractory cytopenia with multilineage dysplasia NA P4 (UB660)*   c.2182A>G p.T728A Novel 0.049 NA Transient monosomy7 NA Yes Refractory cytopenia with multilineage dysplasia NA NA
PMID 29146883 2018 MIRAGE / Aplastic anemia NA P5 (UB062)*   c.2326C>A p.Q776K Novel 24.9 SAMD9 c.2045A>G (p.D682G) Monosomy 7 NA Yes Aplastic anemia with dysplasia NA NA
PMID 29146883 2018 Aplastic anemia Heterozygous de novo P6 (UB026)*   c.2947A>G p.I983V Novel 16.93 NA Isolated monosomy 7 NA Yes Aplastic anemia; IgG deficiency NA NA
PMID 30565860 2018 MIRAGE NA P1   c.1922T>C  p.L641P Novel 25.5 NA Monosomy 7; UPD7q NA Yes Mildly disturbed myelopoiesis with thrombocytopenia Yes NA
PMID 29506479 2018 MIRAGE NA P1   c.2944C>T  p.R982C  MAF 0.00039%  20.2 NA Normal NA Yes Mild thrombocytopenia; anemia Yes NA
PMID 30403727 2018 MIRAGE Heterozygous de novo P1   c.3049T>G p.F1017V Novel 17.9 NA Normal NA Yes Thrombocytopenia Yes Growth inhibited
PMID 29365320 2018 MIRAGE Heterozygous de novo P1   c.2462A>T p.K821M Novel 22.8 NA Normal NA Yes Congenital amegakaryocytic thrombocytopenia; neutropenia Yes Growth inhibited
PMID 29365320 2018 MIRAGE NA P2   c.2920G>A p.E974K Novel 24.4 NA Monosomy 7; del(7q) NA Yes Normocytic nonhemolytic anemia; low IgG; dyserythropoiesis  Yes NA
PMID 30046003 2018 AML / MDS Heterozygous 2A (Family2, proband)   c.2026A>G p.K676E Novel 16.18 NA Monosomy 7 del12p13.2(ETV6); SETBP1; ASXL1 NA NA Yes Growth inhibited
PMID 30046003 2018 AML / MDS Heterozygous 2B (Family2, sibling of 2A)   c.2026A>G p.K676E Novel 16.18 NA Monosomy 7 ETV6  NA MDS with low IgG NA Growth inhibited
PMID 31620126 2019 Gastrointestinal tract and immunodeficiency Heterozygous  de novo P1   c.2471G>A p.R824Q Novel 17.32 NA Normal; progressed to monosomy 7 NA Yes Transient thrombocytopenia and anemia; neutropenia  Yes Growth inhibited
PMID 31666768 2019 MIRAGE Heterozygous P1   c.G1376A p.R459Q Novel 18.54 NA NA NA Yes Transient thrombocytopenia Yes Growth inhibited
PMID 30900330 2019 MIRAGE Heterozygous P1 PMID 31306780 (P6) c.2318T>C p.I773T Novel 25 NA NA NA Yes Thrombocytopenia; anemia Yes NA
PMID 31638924 2019 MIRAGE / TRMA  Heterozygous  de novo P1   c.2920G>A p.E974K  Novel 24.4 NA NA NA Yes Thrombocytopenia; anemia; neutropenia Yes NA
PMID 31572304 2019 MIRAGE Heterozygous  maternal inheritance P1 (Family1)   c.2333C>T p.T778I Novel 11.85 SAMD9 c.853C>T (p.R285X) Normal NA Yes Thrombocytopenia Yes NA
PMID 31572304 2019 MIRAGE NA P2 (Family1, mother of P1)   c.2333C>T p.T778I Novel 11.85 SAMD9 c.661C>T (p.R221X) NA NA Yes Anemia; coagulation disorders  NA NA
PMID 31306780 2019 MIRAGE Heterozygous P2   c.4690G>A p.G1564S Novel 27.3 NA Monosomy 7; del7q13; UPD7q NA Yes Pancytopenia; reduced megakaryocytes; dysplasia Yes NA
PMID 31306780 2019 MIRAGE Heterozygous  maternal inheritance P3   c.3406G>C p.E1136Q Novel 16.08 SAMD9 c.661C>T (p.R221X) Monosomy 7 ETV6  Yes Thrombocytopenia; neutropenia; macrocytosis NA Growth inhibited
PMID 31306780 2019 MIRAGE Heterozygous  de novo P5   c.2407G>C p.E803Q Novel 23.5 NA Monosomy 7 NA Yes Pancytopenia; normocellular bone marrow; megakaryocytic dysplasia Yes NA
PMID 31208161 2020 MIRAGE Heterozygous P1   c.2920G>A p.E974K Novel 24.4 NA Monosomy 7 NA Yes Thrombocytopenia with episode of anemia Yes NA
PMID 32787808 2020 MIRAGE / Nephrotic syndrome NA P1   c.4615T>A p.L1539I Novel 4.177 NA Normal NA Yes Transient low platelets Yes NA
PMID 32194975 2020 MIRAGE Heterozygous  de novo P1 PMID 34629738 c.4435 G>T p.A1479S Novel 20.1 NA Normal NA Yes Transient thrombocytopenia; leukopenia Yes NA
PMID 32106287 2020 MIRAGE Heterozygous  de novo P1   c.3878G>A p.R1293Q  Novel 13.86 NA NA NA Yes Anemia; myelodysplasia  Yes NA
PMID 32106287 2020 MIRAGE NA P2   c.2462A>T  p.K821M Novel 22.8 NA NA NA Yes Congenital megakaryocytic thrombocytopenia; neutropenia Yes NA
PMID 31900929 2020 MDS Heterozygous P1(II-1)*   c.1447C> G p.L483V Novel 23.1 NA NA NA Yes MDS NA NA
PMID 31900929 2020 MDS Heterozygous  maternal inheritance P2(III-1)*   c.1447C> G p.L483V Novel 23.1 c.2958C> G (p.S986C) del(7q) ZRSR2 Yes MDS NA NA
PMID 31900929 2020 MDS Heterozygous  maternal inheritance P3(IV-1)*   c.1447C> G p.L483V Novel 23.1 NA NA NA Yes Thrombocytopenia; anemia; MDS NA NA
PMID 32594144 2020 Down syndrome Heterozygous P1   c.689G>A p.R230H MAF 0.01% 24.2 NA NA NA Yes Macrocytic anemia; leukocytopenia; lymphopenia NA NA
PMID 32619790 2020 MIRAGE Heterozygous P1   c.3221G > T p.S1074I Novel 16.28   Monosomy 7 ETV6: c.191_192dup; p.D65Mfs ∗3; SETBP1: c.2602G > A; p.D868N, RUNX1: c.422C > A; p.S141∗, c.421T > C; p.S141P (in trans) Yes Refractory cytopenia Yes NA
PMID 34659124 2021 MIRAGE Heterozygous de novo P1   c.3406G>C p.E1136Q Novel 16.08 NA Normal NA Yes Severe thromobocytopenia Yes Growth inhibited
PMID 32054657 2021 IBMFS Heterozygous  de novo P2 (20)*   c.4057A>G p.K1353E Novel 13.83 NA Transient monosomy7 NA Yes Thrombocytopenia; mild anemia; trilineage dysplasia Yes NA
PMID 32054657 2021 IBMFS  Heterozygous  de novo P3 (62)*   c.2318T>C p.I773T Novel 25 NA Monosomy 7 NA Yes Thrombocytopenia; left-shifted granulopoiesis Yes NA
PMID 32054657 2021 IBMFS Heterozygous  de novo P4 (23)*   c.3821A>G p.Y1274C Novel 24.1 NA Monosomy 7 NA Yes Hypocellular BM with trilineage dysplasia  NA NA
PMID 33427306 2021 MIRAGE with achalasia Heterozygous  de novo P1   c.3878G>A p.R1293Q Novel 13.86 SAMD9 c.2704C>T (p.R902W) NA NA Yes NA Yes NA
PMID 34253717 2021 MIRAGE with famiial dysautonomia Heterozygous  de novo P1   c.1310T>C p.F437S Novel 25.9 NA Monosomy 7 NA Yes MDS Yes Growth inhibited
PMID 34621053 2021 MDS Heterozygous D424   c.401G>C p.G134A Novel 0.001 NA Normal ASXL1 Yes Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D430   c.1326delT p.F442LfsX19 MAF 0.0004% 25.4 NA Normal NA No Refractory cytopenia No NA
PMID 34621053 2021 MDS Heterozygous D484   c.2854G>C p.G952R MAF 0.042% 5.36 NA Normal NA Yes Refractory cytopenia Yes Growth inhibited
PMID 34621053 2021 MDS Heterozygous D534   c.3826G>A p.V1276I Novel 14.12 SAMD9 c.3576C>A (p.Y1192X, in cis to germline SAMD9) Monosomy 7 SETBP1 Yes MDS with excess blast No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D554   c.2134G>A p.E712K Novel 18.91 NA Normal NA Yes Refractory cytopenia No NA
PMID 34621053 2021 MDS Heterozygous D628   c.731A>G p.H244R MAF 0.007% 23.6 NA Normal NA No MDS with excess blast No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D640   c.3986T>A p.V1329E Novel 1.862 NA Normal NA No MDS with excess blast No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D641   c.4541G>A p.S1514N Novel 18.217 NA Monosomy 7 RUNX1; PTPN11; CBL Yes Refractory cytopenia Yes Growth inhibited
PMID 34621053 2021 MDS Heterozygous D662   c.1395T>G p.F465L Novel 0.415 NA Normal NA Yes Refractory cytopenia No No growth inhibition
PMID 34621053 2021 MDS Heterozygous D676   c.2319T>G p.I773M Novel 23.2 NA Monosomy 7 NA No Refractory cytopenia Yes Growth inhibited
PMID 34621053 2021 MDS Heterozygous D732   c.2066T>C p.V689A Novel 14.98 SAMD9c.4585C>T  (p.R1529C), SAMD9 c.3875C>T (p.T1292I) Normal NA Yes Refractory cytopenia No NA
PMID 34621053 2021 MDS / MIRAGE Heterozygous D769   c.3563G>C p.R1188P Novel 23.7 SAMD9 c.4586G>A (p.R1529H, cis to germline SAMD9), SAMD9 c.4292C>T (p.P1341L, cis to germline SAMD9) Monosomy 7 NA Yes Refractory cytopenia Yes Growth inhibited
PMID 34621053 2021 MDS Heterozygous D778   c.1395T>G p.F465L Novel 0.415 NA Monosomy 7 ASXL1; SETBP1; MYB No Refractory cytopenia Yes No growth inhibition
PMID 34621053 2021 MDS Heterozygous D791   c.4586G>A p.R1529H MAF 0.009% 25.6 NA Normal NA Yes Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D813   c.2122A>G p.R708G Novel 24.3 NA Normal NA No Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS / MIRAGE Heterozygous D831   c.740T>C p.I247T MAF 0.008% 23.8 NA Normal NA Yes Refractory cytopenia No NA
PMID 34621053 2021 MDS Heterozygous D877   c.662G>A p.R221Q MAF 0.014% 23.5 NA Normal NA Yes Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D893   c.2770C>G p.L924V Novel 23.9 NA Monosomy 7 EZH2; RUNX1 Yes Refractory cytopenia Yes Growth inhibited
PMID 34621053 2021 MDS Heterozygous D971   c.2065G>T p.V689L Novel 26.6 NA Complex NA Yes Refractory cytopenia Yes NA
PMID 34621053 2021 MDS Heterozygous D977   c.2920G>A p.E974K Novel 25.6 NA Normal NA Yes Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D1115   c.448A>T p.T150S Novel 0.002 NA Monosomy 7 NA No Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D1142   c.2629A>G p.K877E Novel 7.637 SAMD9 c.1098del (p.F366LfsX33) Monosomy 7 NA Yes Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D1164   c.98G>A p.R33K Novel 20.7 NA Normal NA No Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D1177   c.3040G>A p.E1014K Novel 23 NA Monosomy 7 NA Yes Refractory cytopenia Yes Growth inhibited
PMID 34621053 2021 MDS Heterozygous D1266   c.4334_4336del p.Q1445del MAF 0.002% 13.63 NA Normal NA No Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D130   c.1923_1925del p.L642del Novel 1.807 SAMD9 c.2758_2762del (p.F920GfsX4) Monosomy 7 SETBP1;  ASXL1; PTPN11 Yes Refractory cytopenia Yes Growth inhibited
PMID 34621053 2021 MDS / MIRAGE Heterozygous D1320   c.3878G>A p.R1293Q Novel 22.7 NA Monosomy 7 SETBP1 Yes Refractory cytopenia No NA
PMID 34621053 2021 MDS Heterozygous A083   c.3274T>C p.F1092L Novel 23.5 NA Monosomy 7 NA No Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous CH016   c.2300C>T p.T767I Novel 23.7 NA Normal ASXL1 No Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous E038   c.4701A>G p.I1567M Novel 24.6 NA Monosomy 7 NA No Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous E084   c.4433T>C p.I1478T Novel 19.57 NA Normal NA No Refractory cytopenia No NA
PMID 34621053 2021 MDS Heterozygous GR001   c.2964T>G p.I988M Novel 19.22 NA Monosomy 7 ETV6  Yes Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous GR010   c.731A>G p.H244R MAF 0.007% 23.6 NA Monosomy 7 NA Yes Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous GR015   c.2627A>G p.H876R Novel 23.3 NA Normal NA Yes Refractory cytopenia Yes NA
PMID 34621053 2021 MDS / MIRAGE Heterozygous I336   c.2248A>T p.I750F Novel 23.7 NA Monosomy 7 NA Yes Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous I363   c.3570T>G p.D1190E Novel 0.002 NA Monosomy 7 NA No Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous PL082   c.2704C>T p.R902W MAF 0.002% 26.1 NA Monosomy 7 NA No MDS with excess blast No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D1248   c.4364_4365del p.E1455VfsX14 Novel 23.9 NA Monosomy 7; UPD7q EZH2 No Refractory cytopenia Yes Growth inhibited
PMID 34659124 2021 MIRAGE Heterozygous  de novo P1   c.3406G>C p.E1136Q Novel 16.08 NA Normal NA Yes Thrombocytopenia Yes NA
PMID 34690268 2021 MIRAGE NA P1   c.2945G>A p.R982H Novel 21.8 NA NA NA Yes Pancytopenia NA Growth inhibited
PMID 32770553 2022 RCC Heterozygous P22   c.1927A>G p.K643E Novel 17.36 NA Monosomy 7 NA No Refractory cytopenia Yes Growth inhibited
PMID 35707773 2022 COVID-19 Heterozygous P1   c.2471G>A  p.R824Q Novel 17.32 NA NA NA No No No Growth inhibited
PMID 35994417 2022 MIRAGE Heterozygous P1   c.3877C>T p.R1293W Novel 16.21 NA NA NA Yes No Yes Growth inhibited

Abbreviations:
NA: not available; NFTC: Normophosphatemic familial tumoral calcinosis; MIRAGE: Myeloysplasia, infection, growth restriction, adrenal hypoplasia, genetial phenotypes, and enteropathy; AML: Acute myeloid leukemia; MDS: Myelodysplasia syndrome; IBMFS: Inherited bone marrow failure syndromes; TRMA: Thiamine-responsive megaloblastic anemia; Mut: mutation; P: patient; F: family; CADD: combined annotation dependent depletion in silico pathogenic scoring; MAF: minor allelic frequency; Chr: chromosome; UPD: uniparental isodisomy; del: deletion; PB: peripheral blood; BM: bone marrow

*Patient number as per the respective study.