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 27259050 2016 Ataxia pancytopenia Heterozygous II-4, Family1   c.2640C>A p.H880Q Novel 22.5 NA NA NA Yes Thrombocytopenia NA NA
PMID 27259050 2016 Ataxia pancytopenia Heterozygous III-3, Family1   c.2640C>A p.H880Q Novel 22.5 NA UPD7q in patient derived LCL NA Yes Pancytopenia Yes NA
PMID 27259050 2016 Ataxia pancytopenia Heterozygous III-5, Family1   c.2640C>A p.H880Q Novel 22.5 NA NA NA Yes Reduced megakaryocytes NA NA
PMID 27259050 2016 Ataxia pancytopenia Heterozygous III-6, Family1   c.2640C>A p.H880Q Novel 22.5 NA NA NA Yes Mild cytopenia NA NA
PMID 27259050 2016 Ataxia pancytopenia Heterozygous III-8, Family1   c.2640C>A p.H880Q Novel 22.5 NA NA NA Yes Cytopenia NA NA
PMID 27259050 2016 Ataxia pancytopenia Heterozygous IV-1, Family1   c.2640C>A p.H880Q Novel 22.5 NA NA NA Yes No NA NA
PMID 27259050 2016 Ataxia pancytopenia Heterozygous IV-2, Family1   c.2640C>A p.H880Q Novel 22.5 NA NA NA Yes Cytopenia NA NA
PMID 27259050 2016 Ataxia pancytopenia Heterozygous IV-3, Family1   c.2640C>A p.H880Q Novel 22.5 NA UPD7q in patient derived LCL NA Yes Cytopenia NA NA
PMID 27259050, 6947857 2016, 1981 Ataxia pancytopenia Heterozygous I-1, Family2   c.3587G>C p.C1196S Novel 21.9 NA NA NA Yes No NA NA
PMID 27259050, 6947857 2016, 1981 Ataxia pancytopenia Heterozygous II-4, Family2   c.3587G>C p.C1196S Novel 21.9 NA NA NA Yes Anemia NA NA
PMID 27259050, 6947857 2016, 1981 Ataxia pancytopenia Heterozygous II-5, Family2   c.3587G>C p.C1196S Novel 21.9 NA NA NA Yes Anemia; cytopenia; AML NA NA
PMID 28202457 2017 MDS  Heterozygous P1 (Family1:I-2)*   c.2956C>T p.R986C Novel 16.25 NA NA NA Yes Neutropenia; thrombocytopenia NA NA
PMID 28202457 2017 MDS  Heterozygous P2 (Family1:I-3)*   c.2956C>T p.R986C Novel 16.25 NA Duplication Chr1q; del(7q) NA Yes B, NK, and monocytopenia; dysplastic features in megakaryocytopoiesis Yes Growth inhibited
PMID 28202457 2017 MDS  Heterozygous P3 (Family1:II-1)*   c.2956C>T p.R986C Novel 16.25 SAMD9L c.689C>A (p.T233N; trans to germline SAMD9L) NA NA NA NA NA Growth inhibited
PMID 28202457 2017 MDS  Heterozygous P4 (Family1:II-2)*   c.2956C>T p.R986C Novel 16.25 SAMD9L c.689C>A (p.T233N; trans to germline SAMD9L) NA NA Yes NA NA Growth inhibited
PMID 28202457 2017 MDS  Heterozygous P5 (Family1:II-4)*   c.2956C>T p.R986C Novel 16.25 SAMD9L c.2957G>T; c.1204_1208del (p.R986L cis to germline SAMD9L; p.L410RfsX8) NA NA NA Trilineage cytopenia NA Growth inhibited
PMID 28202457 2017 MDS  Heterozygous P6 (Family1:III-1)*   c.2956C>T p.R986C Novel 16.25 NA NA NA Yes Thrombocytopenia; trilineage cytopenia Yes Growth inhibited
PMID 28202457 2017 MDS  Heterozygous P7 (Family1:III-2)*   c.2956C>T p.R986C Novel 16.25 NA UPD7q NA NA Transient thrombocytopenia NA Growth inhibited
PMID 28202457 2017 MDS  Heterozygous P8 (Family2:I-2)*   c.2672T>C p.I891T Novel 26.7 SAMD9L c.2302A>T (p.K768X; cis to germline SAMD9L) NA NA Yes NA NA Growth inhibited
PMID 28202457 2017 MDS  Heterozygous P9 (Family2:II-1)*   c.2672T>C p.I891T Novel 26.7 NA UPD7q NA Yes Severe aplastic anemia Yes Growth inhibited
PMID 28202457 2017 MDS  Heterozygous P10 (Family2:II-4)*   c.2672T>C p.I891T Novel 26.7 NA Monosomy 7; UPD7q NA Yes Thrombocytopenia; dysplastic megakaryocytes Yes Growth inhibited
PMID 29146900 2017 MDS Heterozygous P5 (SJ018198)* PMID 31306780 P9 c.3538T>C p.W1180R Novel 12.68 NA Monosomy 7 CACNA1S; TECR NA Refractory cytopenia NA Growth inhibited
PMID 29146900 2017 MDS Heterozygous P6 (SJ040280)*   c.3842G>A p.R1281K Novel 14.69 NA Del(7)(q22q36) NA NA Refractory cytopenia NA Growth inhibited
PMID 29146900 2017 MDS Heterozygous P7 (SJ018222)* PMID 31306780 P8 c.1877C>T p.S626L Novel 23.3 NA Monosomy 7; 7q11.23-q36.3 del; UPD7q  C4orf40; PGAM2  NA Refractory cytopenia NA Growth inhibited
PMID 29146900 2017 MDS Heterozygous P8 (P7's relatives, SJ018225)* PMID 31306780 P7 c.1877C>T p.S626L Novel 23.3 NA Normal MAP5; MYCBP2; RALGAPA1; RALGAPA1; SPIRE2; C17orf68; MAST3; ATP2B3; TAF1  NA Refractory cytopenia NA Growth inhibited
PMID 29217778 2018 Familial MDS Heterozygous P1 (Family1, proband)* PMID 34621053 D084 c.4534G>A p.V1512M Novel 25.2 c.3562C>T (p.R1188*) Monosomy 7 SETBP1; EZH2; KRAS; ETV6 Yes Cytopenia; RCC Yes Growth inhibited
PMID 29217778 2018 Familial MDS Heterozygous P2 (Family1, sibling of P1)* PMID 34621053 D154 c.4534G>A p.V1512M Novel 25.2 NA UPD7q; Transient monosomy 7 NA NA RCC NA Growth inhibited
PMID 29217778 2018 Familial MDS Heterozygous P3 (Family2, proband)* PMID 31306780 P11 c.2957G>A p.R986H MAF 0.002%  24.6 NA Monosomy 7 NA NA RCC NA Growth inhibited
PMID 29217778 2018 Familial MDS Heterozygous P4 (Family2, sibling of P3)* PMID 31306780 P12 c.2957G>A p.R986H MAF 0.002%  24.6 NA Monosomy 7; del(7q) NA NA Cytopenia Yes Growth inhibited
PMID 29217778 2018 Familial MDS Heterozygous; paternal inheritance P5 (Family3, proband)* PMID 34621053 D637 c.2956C>T p.R986C Novel 16.25 NA UPD7q; Monosomy 7 NRAS, RUNX1 Yes Cytopenia NA Growth inhibited
PMID 29217778 2018 Familial MDS Heterozygous P6 (Family3, father of P5)*   c.2956C>T p.R986C Novel 16.25 NA Del(7q) NA NA MDS NA Growth inhibited
PMID 29217778 2018 Asymptomatic Heterozygous Brother of P6   c.2956C>T p.R986C Novel 16.25 NA NA NA NA Asymptomatic NA Growth inhibited
PMID 29217778 2018 Familial MDS Heterozygous P7 (Family4, proband)* PMID 34621053 SE007 c.2640C>A p.H880Q Novel 22.5 c.3951_3955delTAAAG (p.S1317RfsX21; cis to germline SAMD9L) UPD7q; Transient monosomy 7 PTPN11 NA RCC NA Growth inhibited
PMID 30046003 2018 AML Heterozygous; paternal inheritance 1A (Proband)   c.2640C>A p.H880Q Novel 22.5 No Monosomy 7 RUNX1; SETBP1; CBL NA Cytopenia; AML NA Growth inhibited
PMID 30046003 2018 AML Heterozygous 1B (Sibling of 1A)   c.2640C>A p.H880Q Novel 22.5 NA Monosomy 7 SETBP1; CBL; RUNX1; SETBP1; KRAS; BRAF NA AML NA Growth inhibited
PMID 30046003 2018 Asymptomatic Heterozygous Father of 1A (1P)*   c.2640C>A p.H880Q Novel 22.5 c.1706A>C (p.Q569P) NA NA NA Asymptomatic NA Growth inhibited
PMID 30046003 2018 MDS Heterozygous; maternal inheritance 3A (Proband)   c.2956C>T p.R986C Novel 16.25 c.3276C>G (p.F1092L) Monosomy 7 NA NA MDS Yes Growth inhibited
PMID 30046003 2018 Asymptomatic Heterozygous 3B (Sibling of 3A)   c.2956C>T p.R986C Novel 16.25 c.667C>T (p.R223*); c.2527C>T (p.R843W); c.1703A>G (p.Y568C) Deletion 7q11-36 NA NA Asymptomatic NA Growth inhibited
PMID 30046003 2018 Asymptomatic Heterozygous Mother of 3A (3M)*   c.2956C>T p.R986C Novel 16.25 p.E276X, p.R1524H NA NA NA NA NA Growth inhibited
PMID 30046003 2018 Transient monosomy 7 Heterozygous 4A (Proband)   c.4535T>C p.V1512A Novel 21 c.2338C>T (p.Q780*) Transient monosomy 7; UPD (7q11.21-q36.3) NA NA Cytopenia Yes Growth inhibited
PMID 30046003 2018 Transient monosomy 7 Heterozygous 4B (Sibling of 4A)   c.4535T>C p.V1512A Novel 21 c.1225delC (p.L409fs) Transient monosomy 7 NA NA NA NA Growth inhibited
PMID 30046003 2018 Transient monosomy 7 Heterozygous; maternal inheritance 5A (Proband)   c.3842G>A p.R1281K Novel 14.69 c.208C>T (p.R70C); c.838G>A (p.A280T); c.1076G>A (p.R359Q); c.3158C>T (p.T1053I); c.3274T>G (p.p.F1092V); c.3511G>A (p.D1171N) Transient Monosomy 7; UPD7q NA NA Cytopenia Yes Growth inhibited
PMID 30046003 2018 Asymptomatic Heterozygous Mother of 5A (5M)*   c.3842G>A p.R1281K Novel 14.69 NA NA NA NA Asymptomatic NA Growth inhibited
PMID 30046003 2018 Hypocellular BM and dysplastic changes Heterozygous 5B (Sibling of 5A)   c.3842G>A p.R1281K Novel 14.69 c.1082delT (p.V361fs)   NA Yes RCC NA Growth inhibited
PMID 30046003 2018 Hypocellular BM and dysplastic changes Heterozygous 5C (Sibling of 5A)   c.3842G>A p.R1281K Novel 14.69 NA   NA NA RCC NA Growth inhibited
PMID 30046003 2018 Hypocellular BM and dysplastic changes Heterozygous 5D (Sibling of 5A)   c.3842G>A p.R1281K Novel 14.69 c.2957G>T (p.R986L); c.3456_3458del (p.1152_1153del) UPD7q NA NA RCC NA Growth inhibited
PMID 30046003 2018 Transient monosomy 7 Heterozygous 5E (Sibling of 5A)   c.3842G>A p.R1281K Novel 14.69 c.56T>A (p.V19E); c.1684G>A (p.E562K); 2326dupG (p.E776fs) Transient monosomy 7 NA Yes Cytopenia NA Growth inhibited
PMID 30046003 2018 Hypocellular BM and dysplastic changes Heterozygous 5F (Sibling of 5A)   c.3842G>A p.R1281K Novel 14.69 c.3547C>T (p.Q1183*); c.3364A>T (p.T1122S); c.3365_3370del (p.1122_1124del); c.4189T>C (p.S1379P)   NA NA RCC NA Growth inhibited
PMID 30046003 2018 Transient monosomy 7 Heterozygous 5G (Sibling of 5A)   c.3842G>A p.R1281K Novel 14.69 c.2527C>T (p.R843W); c.1765C>T (p.R589*) Transient monosomy 7; UPD7q NA NA Cytopenia NA Growth inhibited
PMID 30046003 2018 Transient monosomy 7 Heterozygous 5H (Sibling of 5A)   c.3842G>A p.R1281K Novel 14.69 NA Transient monosomy 7 NA NA Cytopenia NA Growth inhibited
PMID 29146883 2018 Aplastic anemia Heterozygous P1 (UB195)*   c.4561C>G p.L1521V MAF 0.0032%  12.1 NA Monosomy 7 NA NA Pancytopenia NA NA
PMID 29146883 2018 Aplastic anemia Heterozygous P2 (UB609)*   c.2956C>T p.R986C Novel 16.25 c.G3337A (p.A1113T)   NA Yes Transient severe aplastic anemia NA NA
PMID 29146883 2018 Aplastic anemia Heterozygous P3 (UB612, son of UB609)*   c.2956C>T p.R986C Novel 16.25 NA Transient monosomy 7 NA Yes Transient severe aplastic anemia; transient Ig deficiency; mild cytopenia NA NA
PMID 29146883 2018 Aplastic anemia Heterozygous P4 (UB194)*    c.2519T>A p.M840K Novel 22.8 NA Monosomy 7; del(6q) NA NA Pancytopenia NA NA
PMID 29146883 2018 Aplastic anemia NA P5 (UB081)*   c.4648T>C p.S1550P Novel 9.916 NA   NA Yes Transient cytopenia NA NA
PMID 29146883 2018 Aplastic anemia Heterozygous; paternal inheritance P6 (UB022)*   c.3442G>C, TERC mutation carrier p.D1148H Novel 21.4 NA Monosomy 7; del13q NA NA Thrombocytopenia; leukopenia; RAEB1 Yes NA
PMID 29146883 2018 Transient thrombocytopenia Heterozygous P7 (Father of P6)   c.3442G>C, TERC mutation carrier p.D1148H Novel 21.4 NA   NA NA Transient thrombocytopenia NA NA
PMID 29146883 2018 Aplastic anemia Heterozygous P8 (UB049)*   c.4477A>G p.I1493V Novel 14.5 NA Monosomy 7 NA NA Hypocellular MDS with monosomy 7 NA NA
PMID 29146883 2018 MDS NA P9 (UB085)*   c.3100G>T p.D1034Y Novel 25 NA   NA Yes Anemia; leukopenia; RCMD NA NA
PMID 29146883 2018 MDS Heterozygous P10 (UB260)*   c.3427A>G, RTEL1 mutation carrier p.S1143G MAF 0.0012% 1.557 NA Isochromosome 7q NA NA Anemia; luekopenia NA NA
PMID 29146883 2018 Aplastic anemia NA P11 (UB112)*   c.2852_2853insACAC p.T951fs Novel NA NA   NA NA Pancytopenia NA NA
PMID 30322869 2018 Transient severe pancytopenia Heterozygous; paternal inheritance P1 (Proband)   c.1549T>C p.W517R MAF 0.03%  25.1 NA Normal NA NA Transient severe pancytopenia NA Growth increased
PMID 30322869 2018 Thrombocytopenia Heterozygous P2 (Father of P1)   c.1549T>C p.W517R MAF 0.03%  25.1 NA NA NA NA thrombocytopenia NA Growth increased
PMID 31306780  2019 MDS Heterozygous; de novo P10 Blood-2018-99-120250 c.4651 G>C  p.V1551L Novel 14.51 NA Monosomy 7 NA Yes Pancytopenia Yes Growth inhibited
PMID 30923096 2019 Ataxia pancytopenia / Pediatric ALL Heterozygous; paternal inheritance IV-1   c.4418G>A p.S1473N Novel 20.9 SAMD9L c.1821_1822dupCA (p.S608TfsX6) NA Common t(12;21) (ETV6-RUNX1) translocation  NA Thrombocytopenia; macrocytic anemia NA NA
PMID 30923096 2019 Cytopenia Heterozygous; paternal inheritance IV-2   c.4418G>A p.S1473N Novel 20.9 SAMD9L c.1382_1385delAAAG (p.E461VfsX43) UPD7q NA Yes Mild macrocytosis; thrombocytopenia NA NA
PMID 30923096 2019 Ataxia pancytopenia Heterozygous; paternal inheritance IV-4   c.4418G>A p.S1473N Novel 20.9 NA NA NA Yes Aplastic anemia NA NA
PMID 30923096 2019 Thrombocytopenia NA III-1 (Father of IV-1 to 3)   c.4418G>A p.S1473N Novel 20.9 NA NA NA Yes Thrombocytopenia NA NA
PMID 31015479 2019 Ataxia pancytopenia NA P1   c.1076G>A / c.3353A>G p.R359Q, p.Y1118C MAF 0.0007% / Novel 17.52 / 23.6 NA NA NA NA NA NA NA
PMID 31053103 2019 Leukoencephalopathy Heterozygous; de novo P1    c.2686T>G p.F896V Novel 25 NA Normal NA Yes Pancytopenia NA NA
PMID 31874111 2020 SAMD9L-SAAD (CANDLE) Heterozygous; de novo P1    c.2626delA p.I876Lfs*15 Novel NA NA NA NA Yes Anemia; myeloid hyperplasia with mild left shift in myeloid maturation; B cell lymphopenia Yes NA
PMID 31874111 2020 SAMD9L-SAAD (CANDLE) Heterozygous; de novo P2   c.2633delA p.K878Sfs*12 Novel NA NA NA NA Yes Anemia; thrombocytopenia Yes NA
PMID 31874111 2020 SAMD9L-SAAD (CANDLE) Heterozygous; de novo P3   c.2658_2659delTT p.F886Lfs*11 Novel NA NA NA NA Yes Anemia; leukocytosis; thrombocytopenia; progressive leukopenia; mild B-cell lymphopenia Yes NA
PMID 31874111 2020 SAMD9L-SAAD (CANDLE) Heterozygous; de novo P4   c.2658_2659delTT p.F886Lfs*11 Novel NA NA NA NA Yes Chronic thrombocytopenia; anemia with reticulocytosis; low NK cells NA NA
PMID 31874111 2020 SAMD9L-SAAD (CANDLE) Heterozygous; de novo P5   c.2658_2659delTT p.F886Lfs*11 Novel NA NA NA NA Yes Anemia; progressive thrombocytopenia; low NK cells; severe B cell aplasia Yes NA
PMID 31874111 2020 SAMD9L-SAAD (CANDLE) Heterozygous; de novo P6   c.2666delT p.F889Sfs* Novel NA NA NA NA Yes Thrombocytopenia; low B-cells; low NK cells; hypogammaglobulinemia NA NA
PMID 32054657 2021 Ataxia pancytopenia NA P47   c.2956C>T p.R986C Novel 16.25 NA 46,XY,t(3;21)(q26;q22) CBL Yes Pancytopenia; morphological dysplasia NA NA
PMID 32770553 2020 MDS Heterozygous P6   c.4525A>C p.S1509R Novel 23.5 c. 3023A>T (p.Lys1008Ile), c. 3540G>A (p.Trp1180*) Monosomy 7 NA No MDS NA Growth inhibited
PMID 32770553 2020 Neutropenia Heterozygous P25   c.4519T>C p.W1507R Novel 25.4 No Monosomy 7 NA No Neutropenia Yes Growth inhibited
PMID 32808377 2020 Ataxia pancytopenia Heterozygous P1   c.2956C>T p.R986C Novel 16.25 NA NA NA Yes No  NA Growth inhibited
PMID 33368157 2021 MDS/AML predisposition NA #3   c.2807C>T p.T936I Novel 15.45 NA 7q-, Monosomy 7 NA NA MDS/AML predisposition NA NA
PMID 33368157 2021 MDS/AML predisposition NA #25   c.2957G>A p.R986H MAF 0.002%  24.6 NA Monosomy 7 NA NA MDS/AML predisposition NA Growth inhibited
PMID 33368157 2021 MDS/AML predisposition NA #40   c.4736A>G p.Y1579C Novel 24.5 NA NA NA NA MDS/AML predisposition NA NA
PMID 33724365 2021 B-cell aplasia and autoinflammation Heterozygous; de novo P1    c.2658_2659delTT p.F886Lfs*11 Novel NA NA NA NA Yes B-cell aplasia; nonimmune thrombocytopenia Yes Growth inhibited
PMID 33884299 2021 Ataxia pancytopenia / MDS Heterozygous de novo P1   c.2956C>T p.R986C Novel 16.25 NA Interstitial deletion Chr 7q11.23 to q33 NA Yes MDS NA Growth inhibited
PMID 34417303 2021 Leukocytoclastic panniculitis with B-cell lymphopenia Heterozygous P1 (Family1)   c.2654delA p.N885TfsX6 Novel NA NA NA NA Yes Thrombocytopenia; anemia; panniculitis; B-cell lymphopenia Yes Growth inhibited
PMID 34417303 2021 Leukocytoclastic panniculitis with B-cell lymphopenia Heterozygous P2 (Family2)   c.2633delA p.K878SfsX13 Novel NA NA NA NA Yes Neutrophilia; anemia; thrombocytopenia; B-cell lymphopenia Yes Growth inhibited
PMID 34621053 2021 MDS Heterozygous D171   c.4537T>C p.W1513R Novel 24.7 NA Monosomy 7 NA No Refractory cytopenia Yes Growth inhibited
PMID 34621053 2021 MDS Heterozygous D339   c.2488G>T p.E830X MAF 0.001% 35 NA Normal NA Yes Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D393   c.215A>G p.Y72C Novel 0.005 NA Normal NA Yes Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D423   c.2483G>A p.R828Q MAF 0.001% 4.58 NA Normal NA No Refractory cytopenia Yes No growth inhibition
PMID 34621053 2021 MDS Heterozygous D570   c.1909G>A p.A637T MAF 0.012% 20.8 NA Normal NA No Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D743   c.2956C>T p.R986C Novel 21.7 SAMD9L c.1765C>T (p.R589X; cis to germline SAMD9L) Monosomy 7 NA Yes Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D851   c.2957G>A p.R986H MAF 0.002%  26.5 SAMD9L c.2085G>C (p.W695C; cis to germline SAMD9L) Normal NA Yes Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D927   c.2627T>C p.I876T Novel 24.9 SAMD9L c.1360G>A (p.G454R; cis to germline SAMD9L) Monosomy 7 ASXL1; CBL; RUNX1; SETBP1 Yes MDS with excess blast Yes Growth inhibited
PMID 34621053 2021 MDS Heterozygous D991   c.3843G>T / c.1905G>T p.R1281S / p.L635F Novel / Novel 22.3 / 24.6 SAMD9L c.2306dupA (p.N769KfsX5; cis to germline SAMD9L) Monosomy 7 NA No Refractory cytopenia Yes Growth inhibited
PMID 34621053 2021 MDS Heterozygous D1095   c.2069G>A p.G690D MAF 0.038% 25.2 NA Normal NA No Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D1127   c.3346A>C p.N1116H Novel 23.3 NA Monosomy 7 NA Yes Refractory cytopenia Yes Growth inhibited
PMID 34621053 2021 MDS Heterozygous D1160   c.2069G>A p.G690D MAF 0.038% 25.2 NA Normal NA No Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D1215   c.2308A>G p.K770E Novel 16.49 NA Normal NA Yes Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D1248   c.2957G>A p.R986H MAF 0.002%  26.5 SAMD9L c.4571G>A (p.R1524H; cis to germline SAMD9L) Monosomy 7; UPD7q EZH2 No Refractory cytopenia Yes Growth inhibited
PMID 34621053 2021 MDS Heterozygous D1267   c.2069G>A p.G690D MAF 0.038% 25.2 NA Normal NA No Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS / MIRAGE Heterozygous D1285   c.2308A>G p.K770E Novel 16.49 SAMD9L c.1765C>T (p.R589X; cis to germline SAMD9L) Monosomy 7; UPD7q CBL; KMT2C Yes Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D1297   c.2675T>G p.M892R Novel 24.6 NA Monosomy 7; UPD7q NA No Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous D1300   c.4046C>T p.P1349L Novel 1.807 SAMD9L c.768dupT (p.K257X; cis to germline SAMD9L) Monosomy 7 RUNX1 Yes Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous A102   c.2483G>A p.R828Q MAF 0.001% 4.58 NA Normal NA No Refractory cytopenia No No growth inhibition
PMID 34621053 2021 MDS Heterozygous B052   c.2957G>A p.R986H MAF 0.002%  26.5 NA Monosomy 7 NA No Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS / MIRAGE Heterozygous CH026   c.1993A>C p.T665P Novel 9.034 NA Normal NA No Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous CZ035   c.2956C>T p.R986C Novel 21.7 SAMD9L c.3230G>A (p.R1077Q; cis to germline SAMD9L) Monosomy 7 NA No Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous CZ060   c.4418G>A p.S1473N Novel 26.7 NA Monosomy 7 NA Yes Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous GR012   c.4420A>C p.T1474P Novel 23.1 NA Monosomy 7 NA Yes Refractory cytopenia No Growth inhibited
PMID 34621053 2021 MDS Heterozygous H005   c.2675T>G p.M892R Novel 24.6 NA Monosomy 7; UPD7q SETBP1 Yes Refractory cytopenia Yes Growth inhibited
PMID 34621053 2021 MDS Heterozygous I363   c.505G>C p.D169H MAF 0.01% 24.2 NA Monosomy 7 NA No Refractory cytopenia No Growth inhibited
PMID 34722875 2021 Ataxia with neuropathy Heterozygous P1    c.2915T>C p.I972T Novel 23.4 c.3229C>T, c.3456_3458del (p.R1077*, p.L1153del) Normal NA Yes Normal No Growth inhibited
PMID 34894360 2022 SAMD9L-SAAD NA P1   c.2658-2659del p.F886Lfs*11 Novel NA NA Normal NA Yes Lymphopenia Yes NA
PMID 35310830 2022 Spinocerebellar ataxia Heterozygous P1 (III:7)*   c.1877C>T p.S626L Novel 23.3 NA NA NA Yes No NA Growth inhibited
PMID 35310830 2022 Spinocerebellar ataxia Heterozygous P2 (IV:2)*   c.1877C>T p.S626L Novel 23.3 NA NA NA Yes No NA Growth inhibited
PMID 35310830 2022 Spinocerebellar ataxia Heterozygous P3 (IV:8)*   c.1877C>T p.S626L Novel 23.3 NA NA NA Yes No NA Growth inhibited
PMID 35310830 2022 Spinocerebellar ataxia Heterozygous P4 (IV:14)*   c.1877C>T p.S626L Novel 23.3 NA NA NA Yes No NA Growth inhibited
PMID 35310830 2022 Spinocerebellar ataxia Heterozygous P5 (V:1)*   c.1877C>T p.S626L Novel 23.3 NA NA NA Yes No NA Growth inhibited
PMID 35310830 2022 Aplastic anemia Heterozygous P1   c.3800G>T, FLT3 carrier p.C1267F MAF 0.001% 23.5 NA NA NA No Aplastic anemia NA NA
PMID 34418069 2022 Ataxia / cerebellar atrophy Heterozygous P1 (HT102)*   c.2800G>C p.D934H Novel 20.1   NA NA NA NA NA NA
PMID 36054901 2022 Ataxia pancytopenia Heterozygous P1   c.2581C>T p.L861F Novel 25 NA No NA Yes Pancytopenia Yes NA
PMID 36499545 2022 Aplastic anemia Heterozygous; maternal inheritance P2 (Family 2, proband)   c.4303T>C p.W1435R MAF 0.001% 29.3 NA NA NA NA Aplastic anemia NA NA
PMID 36499545 2022 Chronic thrombocytopenia Heterozygous P3 (Family 2, mother of P2)   c.4303T>C p.W1435R MAF 0.001% 29.3 NA NA NA NA Chronic ITP NA NA
PMID 36519557 2022 Ataxia pancytopenia NA P1   c.2062T>A p.Y688N Novel 24.8 NA Monosomy 7 ETV6 Yes MDS No NA
PMID 36553623 2022 Neuropathy Heterozygous P1 (II-3)*   c.2956C>T p.R986C Novel 21.7 No UPD7q NA Yes No No Growth inhibited
PMID 36553623 2022 Neuropathy Heterozygous P2 (III-1)*   c.2956C>T p.R986C Novel 21.7 c.3283A>G (p.K1095E) NA NA Yes Thrombocytopenia No Growth inhibited
PMID 34848396 2022 SAMD9L-SAAD Heterozygous P1   c.2626delA p.I876Lfs*15 Novel NA NA Normal NA No Cytopenia No NA

Abbreviations:
NA: not available; mut: mutation; AML: Acute myeloid leukemia; MDS: Myelodysplasia syndrome; ALL: Acute lymphocytic leukemia; PNP: peripheral polyneuropathy; SAMD9L-SAAD: SAMD9L-mediated autoinflammatory disease; CANDLE: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature; P: patient; F: family; UPD: uniparental isodisomy; del: deletion; LCL: lymphoblastoid cell lines; CADD: combined annotation dependent depletion in silico pathogenic scoring; Chr: chromosome; MAF: minor allelic frequency; PB: peripheral blood; BM: bone marrow; NK: natural killer; yrs: years

*Patient number as described in the respective study
#Same patient described in separate studies.