Curated by Sushree Sahoo, PhD. Last updated May 1, 2023
| Source | Year of Reporting | Presenting Disease | Inheritance | Patients | PMID with overlap cases | Germline SAMD9 Mut (cDNA) | Germline SAMD9 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 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 | 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 | c.2305G>A | p.D769N | Novel | 24.1 | NA | Monosomy 7; trisomy 21 | NA | Yes | Yes | 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 | 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 | 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 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 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 28346228 | 2017 | MIRAGE | Heterozygous | P8 | PMIDs 29365320, 34621053 | 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 28346228 | 2017 | MIRAGE | Heterozygous | P7 | PMID 29365320 | 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 | P1 | c.3878G>A | p.R1293Q | Novel | 13.86 | No | Normal | NA | Yes | NA | NA | Growth inhibited | |
| PMID 28346228 | 2017 | MIRAGE | Heterozygous de novo | P2 | c.3878G>A | p.R1293Q | Novel | 13.86 | NA | NA | NA | Yes | NA | 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 | 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 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 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 | 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 | P2 | c.2945G>A | p.R982H | Novel | 21.8 | No | Normal | NA | Yes | Thrombocytopenia; anemia | Yes | 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 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 | Growth inhibited | |
| 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 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 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 30046003 | 2018 | MDS-related AML | 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 | MDS-related AML | 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 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 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 29146883 | 2018 | MIRAGE with 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 29506479 | 2018 | MIRAGE | NA | P1 | c.2944C>T | p.R982C | MAF 0.00039% | 20.2 | NA | Normal | NA | Yes | Mild thrombocytopenia; anemia | Yes | Growth inhibited | |
| 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 | 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 | 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 28834235 | 2018 | MIRAGE | Heterozygous | P1 | PMIDs 19760774, 29365320 | c.2691A>G | p.I897M | Novel | 21.7 | NA | Monosomy 7 | NA | Yes | Yes | Yes | 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 31638924 | 2019 | MIRAGE with coexisting TMRA | Heterozygous de novo | P1 | c.2920G>A | p.E974K | Novel | 24.4 | NA | NA | NA | Yes | Thrombocytopenia; anemia; neutropenia | Yes | Growth inhibited | |
| 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 30900330 | 2019 | MIRAGE | Heterozygous | P1 | PMID 31306780 | c.2318T>C | p.I773T | Novel | 25 | NA | NA | NA | Yes | Thrombocytopenia; anemia | Yes | NA |
| PMID 31666768 | 2019 | MIRAGE | Heterozygous | P1 | c.G1376A | p.R459Q | Novel | 18.54 | NA | NA | NA | Yes | Transient thrombocytopenia | Yes | Growth inhibited | |
| PMID 31620126 | 2019 | MIRAGE without adrenal hypoplasia | 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 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 | Growth inhibited | |
| 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 | Growth inhibited | |
| 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 31208161 | 2020 | MIRAGE | Heterozygous | P1 | c.2920G>A | p.E974K | Novel | 24.4 | NA | Monosomy 7 | NA | Yes | Thrombocytopenia with episode of anemia | Yes | Growth inhibited | |
| PMID 32770553 | 2020 | MDS low blasts | Heterozygous | P22 | c.1927A>G | p.K643E | Novel | 17.36 | NA | Monosomy 7 | NA | No | Refractory cytopenia | Yes | Growth inhibited | |
| PMID 32106287 | 2020 | MIRAGE | NA | P2 | c.2462A>T | p.K821M | Novel | 22.8 | NA | NA | NA | Yes | Congenital megakaryocytic thrombocytopenia; neutropenia | Yes | Growth inhibited | |
| PMID 32787808 | 2020 | MIRAGE with nephrotic syndrome | NA | P1 | c.4615T>A | p.L1539I | Novel | 4.177 | NA | Normal | NA | Yes | Transient low platelets | 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 32106287 | 2020 | MIRAGE | Heterozygous de novo | P1 | c.3878G>A | p.R1293Q | Novel | 13.86 | NA | NA | NA | Yes | Anemia; myelodysplasia | Yes | Growth inhibited | |
| PMID 32594144 | 2020 | Tumoral cutaneous calcifications with coexisting Trisomy 21 | 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 34621053 | 2021 | MDS low blasts | Heterozygous | A083 | c.3274T>C | p.F1092L | Novel | 23.5 | NA | Monosomy 7 | NA | No | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | CH016 | c.2300C>T | p.T767I | Novel | 23.7 | NA | Normal | ASXL1 | No | Refractory cytopenia | No | Growth inhibited | |
| 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 34621053 | 2021 | MDS low blasts | Heterozygous | D1115 | c.448A>T | p.T150S | Novel | 0.002 | NA | Monosomy 7 | NA | No | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | 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 low blasts | Heterozygous | D1164 | c.98G>A | p.R33K | Novel | 20.7 | NA | Normal | NA | No | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D1177 | c.3040G>A | p.E1014K | Novel | 23 | NA | Monosomy 7 | NA | Yes | Refractory cytopenia | Yes | Growth inhibited | |
| PMID 34253717 | 2021 | MIRAGE with familial 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 low blasts | Heterozygous | D1248 | c.4364_4365del | p.E1455VfsX14 | Novel | 23.9 | NA | Monosomy 7; UPD7q | EZH2 | No | Refractory cytopenia | Yes | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | 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 low blasts | 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 | MIRAGE | Heterozygous | D1320 | c.3878G>A | p.R1293Q | Novel | 22.7 | NA | Monosomy 7 | SETBP1 | Yes | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D424 | c.401G>C | p.G134A | Novel | 0.001 | NA | Normal | ASXL1 | Yes | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D430 | c.1326delT | p.F442LfsX19 | MAF 0.0004% | 25.4 | NA | Normal | NA | No | Refractory cytopenia | No | NA | |
| PMID 34621053 | 2021 | MDS low blasts | 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 EB | 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 low blasts | Heterozygous | D554 | c.2134G>A | p.E712K | Novel | 18.91 | NA | Normal | NA | Yes | Refractory cytopenia | No | NA | |
| PMID 34621053 | 2021 | MDS EB | 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 EB | 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 low blasts | 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 low blasts | Heterozygous | D662 | c.1395T>G | p.F465L | Novel | 0.415 | NA | Normal | NA | Yes | Refractory cytopenia | No | No growth inhibition | |
| PMID 32054657 | 2021 | BMF | Heterozygous de novo | P3 (62)* | c.2318T>C | p.I773T | Novel | 25 | NA | Monosomy 7 | NA | Yes | Thrombocytopenia; left-shifted granulopoiesis | Yes | NA | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D676 | c.2319T>G | p.I773M | Novel | 23.2 | NA | Monosomy 7 | NA | No | Refractory cytopenia | Yes | Growth inhibited | |
| PMID 32054657 | 2021 | BMF | 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 34621053 | 2021 | MDS low blasts | 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 | 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 low blasts | 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 low blasts | 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 low blasts | Heterozygous | D813 | c.2122A>G | p.R708G | Novel | 24.3 | NA | Normal | NA | No | Refractory cytopenia | No | Growth inhibited | |
| 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 | Growth inhibited | |
| PMID 34621053 | 2021 | 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 low blasts | 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 low blasts | 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 low blasts | Heterozygous | D971 | c.2065G>T | p.V689L | Novel | 26.6 | NA | Complex | NA | Yes | Refractory cytopenia | Yes | NA | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D977 | c.2920G>A | p.E974K | Novel | 25.6 | NA | Normal | NA | Yes | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | E038 | c.4701A>G | p.I1567M | Novel | 24.6 | NA | Monosomy 7 | NA | No | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MIRAGE | NA | P1 | c.2945G>A | p.R982H | Novel | 21.8 | NA | NA | NA | Yes | Pancytopenia | NA | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | E084 | c.4433T>C | p.I1478T | Novel | 19.57 | NA | Normal | NA | No | Refractory cytopenia | No | NA | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | GR001 | c.2964T>G | p.I988M | Novel | 19.22 | NA | Monosomy 7 | ETV6 | Yes | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | 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 low blasts | Heterozygous | GR015 | c.2627A>G | p.H876R | Novel | 23.3 | NA | Normal | NA | Yes | Refractory cytopenia | Yes | NA | |
| PMID 34621053 | 2021 | 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 low blasts | Heterozygous | I363 | c.3570T>G | p.D1190E | Novel | 0.002 | NA | Monosomy 7 | NA | No | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS EB | 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 32054657 | 2021 | BMF | 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 35994417 | 2022 | MIRAGE | Heterozygous | P1 | c.3877C>T | p.R1293W | Novel | 16.21 | NA | NA | NA | Yes | No | Yes | Growth inhibited | |
| PMID 35707773 | 2022 | COVID-19-MIS | Heterozygous de novo | P1 | c.2471G>A | p.R824Q | Novel | 17.32 | NA | NA | NA | No | No | No | Growth inhibited | |
| PMID 36730951 | 2023 | MDS | Heterozygous de novo | P1 | c.2471G>A | p.R824Q | Novel | 17.32 | NA | Monosomy 7 | NA | Yes | Refractory cytopenia with multilineage dysplasia; 1.8% blast count | Yes | Growth inhibited | |
| PMID 37044079 | 2023 | MIRAGE with severe temperature instability | Heterozygous | P1 | c.2945G>A | p.R982H | Novel | 21.8 | 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; RCC: Refractory cytopenia; RCMD: Refractory cytopenia with multilineage dysplasia; BMF: Bone marrow failure; TRMA: Thiamine-responsive megaloblastic anemia; COVID91-MIS: COVID19-associated multisystem inflammatory syndrome; 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
MDS with low blasts includes RCC and RCMD cases
*Patient or asymptomatic case number as per the respective study