St. Jude Research

SAMD9L Mutations

View SAMD9 Mutations

The SAMD9L Database is a curated repository of germline SAMD9L variants identified in patients through published literature. Our goal is to provide a comprehensive knowledge base for understanding SAMD9/9L syndromes.

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

SAMD9L transcript version is NM_152703.2. Curated by Sushree Sahoo, PhD. Last updated: 07/29/2025.

Patient ID SAMD9 mutation (cDNA) SAMD9 mutation (Protein) Type of mutation Zygosity Inheritance CADD score Mutation effect (HEK293 assay) gnomAD (v4.1.0) population frequency Year of reporting PMID Patient also reported in (PMID) Original patient ID Disease Karyotype Constitutional abnormalities Hematopoietic phenotype Infections Somatic SAMD9L mutations Other somatic mutations
P001 c.3587G>C p.Cys1196Ser Missense Heterozygous 21.9   Absent 2016 27259050 6947857 II-4, Family2 Ataxia pancytopenia Yes Yes      
P002 c.3587G>C p.Cys1196Ser Missense Heterozygous 21.9   Absent 2016 27259050 6947857 II-5, Family2 Ataxia pancytopenia Yes Yes      
P003 c.2640C>A p.His880Gln Missense Heterozygous 22.5 Growth inhibited Absent 2016 27259050   III-8, Family1 Ataxia pancytopenia Yes Yes      
P004 c.2640C>A p.His880Gln Missense Heterozygous 22.5 Growth inhibited Absent 2016 27259050   IV-2, Family1 Ataxia pancytopenia Yes Yes      
P005 c.2640C>A p.His880Gln Missense Heterozygous 22.5 Growth inhibited Absent 2016 27259050   IV-3, Family1 Ataxia pancytopenia UPD7q in patient derived LCL Yes Yes      
P006 c.2640C>A p.His880Gln Missense Heterozygous 22.5 Growth inhibited Absent 2016 27259050   III-6, Family1 Ataxia pancytopenia Yes Yes      
P007 c.3587G>C p.Cys1196Ser Missense Heterozygous 21.9   Absent 2016 27259050 6947857 I-1, Family2 Ataxia pancytopenia Yes No      
P008 c.2640C>A p.His880Gln Missense Heterozygous 22.5 Growth inhibited Absent 2016 27259050   IV-1, Family1 Ataxia pancytopenia Yes No      
P009 c.2640C>A p.His880Gln Missense Heterozygous 22.5 Growth inhibited Absent 2016 27259050   III-5, Family1 Ataxia pancytopenia Yes Yes      
P010 c.2640C>A p.His880Gln Missense Heterozygous 22.5 Growth inhibited Absent 2016 27259050   II-4, Family1 Ataxia pancytopenia Yes Yes      
P011 c.2640C>A p.His880Gln Missense Heterozygous 22.5 Growth inhibited Absent 2016 27259050   III-3, Family1 Ataxia pancytopenia UPD7q in patient derived LCL Yes Yes Yes    
P012 c.2672T>C p.Ile891Thr Missense Heterozygous 26.7 Growth inhibited Absent 2017 28202457   P8 (Family2:I-2) MDS-LB   Yes     SAMD9L c.2302A>T (p.K768X; cis to germline SAMD9L)
P013 c.2956C>T p.Arg986Cys Missense Heterozygous 16.25 Growth inhibited Absent 2017 28202457   P3 (Family1:II-1) MDS-LB         No  
P013 NA p.Thr233Asn Missense Heterozygous 16.25 Growth inhibited Absent 2017 28202457   P3 (Family1:II-1) MDS-LB         No  
P014 c.2956C>T p.Arg986Cys Missense Heterozygous 16.25 Growth inhibited Absent 2017 28202457   P4 (Family1:II-2) MDS-LB   Yes     No  
P014 NA p.Thr233Asn Missense Heterozygous 16.25 Growth inhibited Absent 2017 28202457   P4 (Family1:II-2) MDS-LB   Yes     No  
P015 c.2956C>T p.Arg986Cys Missense Heterozygous 16.25 Growth inhibited Absent 2017 28202457   P1 (Family1:I-2) MDS-LB   Yes Yes      
P016 c.2956C>T p.Arg986Cys Missense Heterozygous 16.25 Growth inhibited Absent 2017 28202457   P7 (Family1:III-2) MDS-LB UPD7q   Yes      
P017 c.2956C>T p.Arg986Cys Missense Heterozygous 16.25 Growth inhibited Absent 2017 28202457   P5 (Family1:II-4) MDS-LB     Yes   SAMD9L c.2957G>T; c.1204_1208del (p.R986L cis to germline SAMD9L; p.L410RfsX8)
P018 c.3842G>A p.Arg1281Lys Missense Heterozygous 14.69 Growth inhibited Absent 2017 29146900   P6 (SJ040280) MDS-LB Del(7)(q22q36) Yes      
P019 c.1877C>T p.Ser626Leu Missense Heterozygous 23.3 Growth inhibited Absent 2017 29146900 31306780 P8 (P7's relatives, SJ018225) MDS-LB Normal   Yes     MAP5, MYCBP2, RALGAPA1, RALGAPA1, SPIRE2, C17orf68, MAST3, ATP2B3, TAF1 
P020 c.3538T>C p.Trp1180Arg Missense Heterozygous 12.68 Growth inhibited Absent 2017 29146900 31306780 P5 (SJ018198) MDS-LB Monosomy 7   Yes     CACNA1S, TECR
P021 c.1877C>T p.Ser626Leu Missense Heterozygous 23.3 Growth inhibited Absent 2017 29146900 31306780 P7 (SJ018222) MDS-LB Monosomy 7; 7q11.23-q36.3 del; UPD7q  Yes     C4orf40, PGAM2 
P022 c.2956C>T p.Arg986Cys Missense Heterozygous 16.25 Growth inhibited Absent 2017 28202457   P2 (Family1:I-3) MDS-LB Duplication Chr1q; del(7q) Yes Yes Yes    
P023 c.2672T>C p.Ile891Thr Missense Heterozygous 26.7 Growth inhibited Absent 2017 28202457   P9 (Family2:II-1) MDS-LB UPD7q Yes Yes Yes    
P024 c.2672T>C p.Ile891Thr Missense Heterozygous 26.7 Growth inhibited Absent 2017 28202457   P10 (Family2:II-4) MDS-LB Monosomy 7; UPD7q Yes Yes Yes    
P025 c.2956C>T p.Arg986Cys Missense Heterozygous 16.25 Growth inhibited Absent 2017 28202457   P6 (Family1:III-1) MDS-LB   Yes Yes Yes    
P026 c.4477A>G p.Ile1493Val Missense Heterozygous 14.5   Absent 2018 29146883   P8 (UB049) Aplastic anemia Monosomy 7   Yes      
P027 c.4561C>G p.Leu1521Val Missense Heterozygous 12.1   0.0032% 2018 29146883   P1 (UB195) Aplastic anemia Monosomy 7   Yes      
P028 c.2852_2853insACAC p.Thr951fs Frameshift         Absent 2018 29146883   P11 (UB112) Aplastic anemia   Yes      
P029 c.2519T>A p.Met840Lys Missense Heterozygous 22.8   Absent 2018 29146883   P4 (UB194) Aplastic anemia Monosomy 7; del(6q) Yes      
P030 c.4648T>C p.Ser1550Pro Missense     9.916   Absent 2018 29146883   P5 (UB081) Aplastic anemia Yes Yes      
P031 c.2956C>T p.Arg986Cys Missense Heterozygous 16.25 Growth inhibited Absent 2018 29146883   P2 (UB609) Aplastic anemia Yes Yes   SAMD9L c.3337G>A (p.A1113T)
P032 c.2956C>T p.Arg986Cys Missense Heterozygous 16.25 Growth inhibited Absent 2018 29146883   P3 (UB612, son of UB609) Aplastic anemia Transient monosomy 7 Yes Yes      
P033 c.3100G>T p.Asp1034Tyr Missense     25   Absent 2018 29146883   P9 (UB085) MDS-LB   Yes Yes      
P034 c.3427A>G, RTEL1 mutation carrier p.Ser1143Gly Missense Heterozygous 1.557 Growth inhibited 0.0012% 2018 29146883   P10 (UB260) MDS-LB Isochromosome 7q Yes      
P035 c.3442G>C, TERC mutation carrier p.Asp1148His Missense Heterozygous 21.4   Absent 2018 29146883   P7 (Father of P6) Transient thrombocytopenia Yes      
P036 c.2956C>T p.Arg986Cys Missense Heterozygous Paternally inherited 16.25 Growth inhibited Absent 2018 29217778 34621053 P5 (Family3, proband) Familial MDS UPD7q; Monosomy 7 Yes Yes     NRAS, RUNX1
P037 c.2957G>A p.Arg986His Missense Heterozygous 24.6 Growth inhibited 0.0020% 2018 29217778 31306780 P3 (Family2, proband) Familial MDS Monosomy 7   Yes      
P038 c.4534G>A p.Val1512Met Missense Heterozygous 25.2 Growth inhibited Absent 2018 29217778 34621053 P2 (Family1, sibling of P1) Familial MDS UPD7q; Transient monosomy 7 Yes      
P039 c.2640C>A p.His880Gln Missense Heterozygous 22.5 Growth inhibited Absent 2018 29217778 34621053 P7 (Family4, proband) Familial MDS UPD7q; Transient monosomy 7 Yes   SAMD9L c.3951_3955delTAAAG (p.S1317RfsX21; cis to germline SAMD9L) PTPN11
P040 c.2956C>T p.Arg986Cys Missense Heterozygous 16.25 Growth inhibited Absent 2018 29217778   P6 (Family3, father of P5) Familial MDS  Del(7q)   Yes      
P041 c.2640C>A p.His880Gln Missense Heterozygous 22.5 Growth inhibited Absent 2018 30046003   1B (Sibling of 1A) AML Monosomy 7   Yes     SETBP1, CBL, RUNX1, SETBP1, KRAS, BRAF
P042 c.2640C>A p.His880Gln Missense Heterozygous Paternally inherited 22.5 Growth inhibited Absent 2018 30046003   1A (Proband) AML Monosomy 7   Yes   No RUNX1, SETBP1, CBL
P043 c.3842G>A p.Arg1281Lys Missense Heterozygous 14.69 Growth inhibited Absent 2018 30046003   5C (Sibling of 5A) MDS-LB     Yes      
P044 c.3842G>A p.Arg1281Lys Missense Heterozygous 14.69 Growth inhibited Absent 2018 30046003   5F (Sibling of 5A) MDS-LB     Yes   SAMD9L c.3547C>T (p.Q1183*); c.3364A>T (p.T1122S); c.3365_3370del (p.1122_1124del); c.4189T>C (p.S1379P)
P045 c.3842G>A p.Arg1281Lys Missense Heterozygous 14.69 Growth inhibited Absent 2018 30046003   5D (Sibling of 5A) MDS-LB UPD7q   Yes   SAMD9L c.2957G>T (p.R986L); c.3456_3458del (p.1152_1153del)
P046 c.3842G>A p.Arg1281Lys Missense Heterozygous 14.69 Growth inhibited Absent 2018 30046003   5B (Sibling of 5A) MDS-LB   Yes Yes   SAMD9L c.1082delT (p.V361fs)
P047 c.3842G>A p.Arg1281Lys Missense Heterozygous 14.69 Growth inhibited Absent 2018 30046003   5H (Sibling of 5A) Transient monosomy 7 Transient monosomy 7 Yes      
P048 c.3842G>A p.Arg1281Lys Missense Heterozygous 14.69 Growth inhibited Absent 2018 30046003   5E (Sibling of 5A) Transient monosomy 7 Transient monosomy 7 Yes Yes   SAMD9L c.56T>A (p.V19E); c.1684G>A (p.E562K); 2326dupG (p.E776fs)
P049 c.3842G>A p.Arg1281Lys Missense Heterozygous 14.69 Growth inhibited Absent 2018 30046003   5G (Sibling of 5A) Transient monosomy 7 Transient monosomy 7; UPD7q Yes   SAMD9L c.2527C>T (p.R843W); c.1765C>T (p.R589*)
P050 c.4535T>C p.Val1512Ala Missense Heterozygous 21 Growth inhibited Absent 2018 30046003   4B (Sibling of 4A) Transient monosomy 7 Transient monosomy 7     SAMD9L c.1225delC (p.L409fs)
P051 c.1549T>C p.Trp517Arg Missense Heterozygous 25.1 Growth increased 0.0300% 2018 30322869   P2 (Father of P1) Thrombocytopenia   Yes      
P052 c.1549T>C p.Trp517Arg Missense Heterozygous Paternally inherited 25.1 Growth increased 0.0300% 2018 30322869   P1 (Proband) Transient severe pancytopenia Normal   Yes      
P053 c.3442G>C, TERC mutation carrier p.Asp1148His Missense Heterozygous Paternally inherited 21.4   Absent 2018 29146883   P6 (UB022) Aplastic anemia Monosomy 7; del13q Yes Yes    
P054 c.2957G>A p.Arg986His Missense Heterozygous 24.6 Growth inhibited 0.0020% 2018 29217778 31306780 P4 (Family2, sibling of P3) Familial MDS Monosomy 7; del(7q) Yes Yes    
P055 c.4534G>A p.Val1512Met Missense Heterozygous 25.2 Growth inhibited Absent 2018 29217778 34621053 P1 (Family1, proband) Familial MDS Monosomy 7 Yes Yes Yes SAMD9L c.3562C>T (p.R1188*) SETBP1, EZH2, KRAS, ETV6
P056 c.2956C>T p.Arg986Cys Missense Heterozygous Maternally inherited 16.25 Growth inhibited Absent 2018 30046003   3A (Proband) MDS-LB Monosomy 7   Yes Yes SAMD9L c.3276C>G (p.F1092L)
P057 c.4535T>C p.Val1512Ala Missense Heterozygous 21 Growth inhibited Absent 2018 30046003   4A (Proband) Transient monosomy 7 Transient monosomy 7; UPD (7q11.21-q36.3) Yes Yes SAMD9L c.2338C>T (p.Q780*)
P058 c.3842G>A p.Arg1281Lys Missense Heterozygous Maternally inherited 14.69 Growth inhibited Absent 2018 30046003   5A (Proband) Transient monosomy 7 Transient Monosomy 7; UPD7q Yes Yes SAMD9L 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)
P059 c.4418G>A p.Ser1473Asn Missense Heterozygous Paternally inherited 20.9 Growth inhibited Absent 2019 30923096   IV-4 Ataxia pancytopenia Yes Yes      
P060 c.4418G>A p.Ser1473Asn Missense Heterozygous Paternally inherited 20.9 Growth inhibited Absent 2019 30923096   IV-1 Ataxia pancytopenia / Pediatric ALL Yes   SAMD9L c.1821_1822dupCA (p.S608TfsX6) Common t(12,21) (ETV6-RUNX1) translocation 
P061 c.4418G>A p.Ser1473Asn Missense Heterozygous Paternally inherited 20.9 Growth inhibited Absent 2019 30923096   IV-2 Cytopenia UPD7q Yes Yes   SAMD9L c.1382_1385delAAAG (p.E461VfsX43)
P062 c.4418G>A p.Ser1473Asn Missense     20.9 Growth inhibited Absent 2019 30923096   III-1 (Father of IV-1 to 3) Thrombocytopenia Yes Yes      
P063 c.1076G>A p.Arg359Gln Missense     17.52   0.0007% 2019 31015479   P1 Ataxia pancytopenia          
P063 c.3353A>G p.Tyr1118Cys Missense     23.6   Absent 2019 31015479   P1 Ataxia pancytopenia          
P064 c.2686T>G p.Phe896Val Missense Heterozygous De novo 25   Absent 2019 31053103   P1  Leukoencephalopathy Normal Yes Yes      
P065 c.4651 G>C  p.Val1551Leu Missense Heterozygous De novo 14.51 Growth inhibited Absent 2019 31306780 Blood-2018-99-120250 P10 MDS-LB Monosomy 7 Yes Yes Yes    
P066 c.2658_2659delTT p.Phe886LeufsX11 Frameshift Heterozygous De novo   Growth inhibited Absent 2020 31874111   P4 SAAD    Yes Yes      
P067 c.2666delT p.Phe889SerfsX2 Frameshift Heterozygous De novo     Absent 2020 31874111   P6 SAAD    Yes Yes      
P068 c.4525A>C p.Ser1509Arg Missense Heterozygous 23.5 Growth inhibited Absent 2020 32770553   P6 MDS-LB Monosomy 7 No Yes   SAMD9L c. 3023A>T (p.Lys1008Ile), c. 3540G>A (p.Trp1180*)
P069 c.2956C>T p.Arg986Cys Missense Heterozygous 16.25 Growth inhibited Absent 2020 32808377   P1 Ataxia pancytopenia Yes No       
P070 c.2658_2659delTT p.Phe886LeufsX11 Frameshift Heterozygous De novo   Growth inhibited Absent 2020 31874111   P3 SAAD    Yes Yes Yes    
P071 c.2626delA p.Ile876LeufsX15 Frameshift Heterozygous De novo     Absent 2020 31874111   P1  SAAD    Yes Yes Yes    
P072 c.2658_2659delTT p.Phe886LeufsX11 Frameshift Heterozygous De novo   Growth inhibited Absent 2020 31874111   P5 SAAD    Yes Yes Yes    
P073 c.2633delA p.Lys878SerfsX12 Frameshift Heterozygous De novo     Absent 2020 31874111   P2 SAAD    Yes Yes Yes    
P074 c.4519T>C p.Trp1507Arg Missense Heterozygous 25.4 Growth inhibited Absent 2020 32770553   P25 Neutropenia Monosomy 7 No Yes Yes No  
P075 c.2483G>A p.Arg828Gln Missense Heterozygous 4.58 No growth inhibition 0.0010% 2021 34621053   A102 MDS-LB Normal No Yes No No No
P076 c.2488G>T p.Glu830X Nonsense Heterozygous 35 Growth inhibited 0.0010% 2021 34621053   D339 MDS-LB Normal Yes Yes No No No
P077 c.2957G>A p.Arg986His Missense Heterozygous 26.5 Growth inhibited 0.0020% 2021 34621053   D851 MDS-LB Normal Yes Yes No SAMD9L c.2085G>C (p.W695C; cis to germline SAMD9L) No
P078 c.2957G>A p.Arg986His Missense Heterozygous 26.5 Growth inhibited 0.0020% 2021 34621053   B052 MDS-LB Monosomy 7 No Yes No No No
P079 c.505G>C p.Asp169His Missense Heterozygous 24.2 Growth inhibited 0.0100% 2021 34621053   I363 MDS-LB Monosomy 7 No Yes No No No
P080 c.1909G>A p.Ala637Thr Missense Heterozygous 20.8 Growth inhibited 0.0120% 2021 34621053   D570 MDS-LB Normal No Yes No No No
P081 c.2069G>A p.Gly690Asp Missense Heterozygous 25.2 Growth inhibited 0.0380% 2021 34621053   D1095 MDS-LB Normal No Yes No No No
P082 c.2069G>A p.Gly690Asp Missense Heterozygous 25.2 Growth inhibited 0.0380% 2021 34621053   D1160 MDS-LB Normal No Yes No No No
P083 c.2069G>A p.Gly690Asp Missense Heterozygous 25.2 Growth inhibited 0.0380% 2021 34621053   D1267 MDS-LB Normal No Yes No No No
P084 c.4046C>T p.Pro1349Leu Missense Heterozygous 1.807 Growth inhibited Absent 2021 34621053   D1300 MDS-LB Monosomy 7 Yes Yes No SAMD9L c.768dupT (p.K257X; cis to germline SAMD9L) RUNX1
P085 c.2956C>T p.Arg986Cys Missense Heterozygous 21.7 Growth inhibited Absent 2021 34621053   CZ035 MDS-LB Monosomy 7 No Yes No SAMD9L c.3230G>A (p.R1077Q; cis to germline SAMD9L) No
P086 c.2956C>T p.Arg986Cys Missense Heterozygous 21.7 Growth inhibited Absent 2021 34621053   D743 MDS-LB Monosomy 7 Yes Yes No SAMD9L c.1765C>T (p.R589X; cis to germline SAMD9L) No
P087 c.4418G>A p.Ser1473Asn Missense Heterozygous 26.7 Growth inhibited Absent 2021 34621053   CZ060 MDS-LB Monosomy 7 Yes Yes No No No
P088 c.2675T>G p.Met892Arg Missense Heterozygous 24.6 Growth inhibited Absent 2021 34621053   D1297 MDS-LB Monosomy 7; UPD7q No Yes No No No
P089 c.4420A>C p.Thr1474Pro Missense Heterozygous 23.1 Growth inhibited Absent 2021 34621053   GR012 MDS-LB Monosomy 7 Yes Yes No No No
P090 c.2308A>G p.Lys770Glu Missense Heterozygous 16.49 Growth inhibited Absent 2021 34621053   D1215 MDS-LB Normal Yes Yes No No No
P091 c.2956C>T p.Arg986Cys Missense     16.25 Growth inhibited Absent 2021 32054657   P47 Ataxia pancytopenia 46,XY,t(3;21)(q26;q22) Yes Yes     CBL
P092 c.215A>G p.Tyr72Cys Missense Heterozygous 0.005 Growth inhibited Absent 2021 34621053   D393 MDS-LB Normal Yes Yes No No No
P093 c.2957G>A p.Arg986His Missense     24.6 Growth inhibited 0.0020% 2021 33368157   #25 MDS-LB Monosomy 7   Yes   SAMD9L c.2482C>T (p.Arg828*), c.3178G>T (p.Glu1060*)
P094 c.2807C>T p.Thr936Ile Missense     15.45   Absent 2021 33368157   #3 MDS-LB 7q-, Monosomy 7 Yes   SAMD9L c.1765C>T (p.Arg589*)
P095 c.4736A>G p.Tyr1579Cys Missense     24.5   Absent 2021 33368157   #40 MDS-LB     Yes      
P096 c.2308A>G p.Lys770Glu Missense Heterozygous 16.49 Growth inhibited Absent 2021 34621053   D1285 MIRAGE Monosomy 7; UPD7q Yes Yes No SAMD9L c.1765C>T (p.R589X; cis to germline SAMD9L) CBL, KMT2C
P097 c.2956C>T p.Arg986Cys Missense Heterozygous De novo 16.25 Growth inhibited Absent 2021 33884299   P1 Ataxia pancytopenia with MDS Interstitial deletion Chr 7q11.23 to q33 Yes Yes      
P098 c.1993A>C p.Thr665Pro Missense Heterozygous 9.034 Growth inhibited Absent 2021 34621053   CH026 MIRAGE Normal No Yes No No  
P099 c.2915T>C p.Ile972Thr Missense Heterozygous 23.4 Growth inhibited Absent 2021 34722875   P1  Ataxia with neuropathy Normal Yes No No SAMD9L c.3229C>T, c.3456_3458del (p.R1077*, p.L1153del)
P100 c.2658_2659delTT p.Phe886LeufsX11 Frameshift Heterozygous De novo   Growth inhibited Absent 2021 33724365   P1  B-cell aplasia and autoinflammation Yes Yes Yes    
P101 c.2633delA p.Lys878SerfsX13 Frameshift Heterozygous De novo   Growth inhibited Absent 2021 34417303   P2 (Family2) Leukocytoclastic panniculitis with B-cell lymphopenia Yes Yes Yes    
P102 c.2654delA p.Asn885TfsX6 Frameshift Heterozygous De novo   Growth inhibited Absent 2021 34417303   P1 (Family1) Leukocytoclastic panniculitis with B-cell lymphopenia Yes Yes Yes    
P103 c.2627T>C p.Ile876Thr Missense Heterozygous 24.9 Growth inhibited Absent 2021 34621053   D927 MDS-EB Monosomy 7 Yes Yes Yes SAMD9L c.1360G>A (p.G454R; cis to germline SAMD9L) ASXL1, CBL, RUNX1, SETBP1
P104 c.2483G>A p.Arg828Gln Missense Heterozygous 4.58 No growth inhibition 0.0010% 2021 34621053   D423 MDS-LB Normal No Yes Yes No No
P105 c.2957G>A p.Arg986His Missense Heterozygous 26.5 Growth inhibited 0.0020% 2021 34621053   D1248 MDS-LB Monosomy 7; UPD7q No Yes Yes SAMD9L c.4571G>A (p.R1524H; cis to germline SAMD9L) EZH2
P106 c.2675T>G p.Met892Arg Missense Heterozygous 24.6 Growth inhibited Absent 2021 34621053   H005 MDS-LB Monosomy 7; UPD7q Yes Yes Yes No SETBP1
P107 c.3346A>C p.Asn1116His Missense Heterozygous 23.3 Growth inhibited Absent 2021 34621053   D1127 MDS-LB Monosomy 7 Yes Yes Yes No No
P108 c.4537T>C p.Trp1513Arg Missense Heterozygous 24.7 Growth inhibited Absent 2021 34621053   D171 MDS-LB Monosomy 7 No Yes Yes No No
P109 c.3843G>T p.Arg1281Ser Missense Heterozygous 22.3 Growth inhibited Absent 2021 34621053   D991 MDS-LB Monosomy 7 No Yes Yes SAMD9L c.2306dupA (p.N769KfsX5; cis to germline SAMD9L) No
P109 c.1905G>T p.Leu635Phe Missense Heterozygous 24.6 Growth inhibited Absent 2021 34621053   D991 MDS-LB Monosomy 7     Yes SAMD9L c.2306dupA (p.N769KfsX5; cis to germline SAMD9L) No
P110 c.2800G>C p.Asp934His Missense Heterozygous 20.1   Absent 2022 34418069   P1 (HT102) Ataxia with cerebellar atrophy No Yes      
P111 c.2626delA p.Ile876LeufsX15 Frameshift Heterozygous De novo     Absent 2022 34848396   P1 SAAD  Normal Yes Yes No    
P112 c.2062T>A p.Tyr688Asn Missense     24.8   Absent 2022 36519557   P1 Ataxia pancytopenia Monosomy 7 Yes No No   ETV6
P113 c.2956C>T p.Arg986Cys Missense Heterozygous 21.7 Growth inhibited Absent 2022 36553623   P1 (II-3) Neuropathy UPD7q Yes Yes No No  
P114 c.2956C>T p.Arg986Cys Missense Heterozygous 21.7 Growth inhibited Absent 2022 36553623   P2 (III-1) Neuropathy   Yes No No SAMD9L c.3283A>G (p.K1095E)
P115 c.1877C>T p.Ser626Leu Missense Heterozygous 23.3 Growth inhibited Absent 2022 35310830   P1 (III:7) Spinocerebellar ataxia 49 Yes No      
P116 c.1877C>T p.Ser626Leu Missense Heterozygous 23.3 Growth inhibited Absent 2022 35310830   P2 (IV:2) Spinocerebellar ataxia 49 Yes No      
P117 c.1877C>T p.Ser626Leu Missense Heterozygous 23.3 Growth inhibited Absent 2022 35310830   P3 (IV:8) Spinocerebellar ataxia 49 Yes No      
P118 c.1877C>T p.Ser626Leu Missense Heterozygous 23.3 Growth inhibited Absent 2022 35310830   P4 (IV:14) Spinocerebellar ataxia 49 Yes No      
P119 c.1877C>T p.Ser626Leu Missense Heterozygous 23.3 Growth inhibited Absent 2022 35310830   P5 (V:1) Spinocerebellar ataxia 49 No Yes      
P120 c.3800G>T, FLT3 carrier p.Cys1267Phe Missense Heterozygous 23.5   0.0010% 2022 36012751   P1 Aplastic anemia   Yes      
P121 c.4303T>C p.Trp1435Arg Missense Heterozygous Maternally inherited 29.3   0.0010% 2022 36499545   P2 (Family 2, proband) Aplastic anemia   Yes      
P122 c.4303T>C p.Trp1435Arg Missense Heterozygous 29.3   0.0010% 2022 36499545   P3 (Family 2, mother of P2) Chronic thrombocytopenia Yes Yes      
P123 c.2658-2659del p.Phe886LeufsX11 Frameshift Heterozygous De novo   Growth inhibited Absent 2022 34894360   P1 SAAD  Normal Yes Yes Yes    
P124 c.2581C>T p.Leu861Phe Missense Heterozygous 25   Absent 2022 36054901   P1 Ataxia pancytopenia No No Yes Yes    
P125 c.4519T>C p.Trp1507Arg Missense Heterozygous De novo 25.4 Growth inhibited Absent 2023 36730951   P2 MDS-LB Monosomy 7 Yes Yes Yes    
P126 NA p.Lys1532Asn Missense Heterozygous De novo     Absent 2023 37357006   P1 MDS-EB Monosomy 7 Yes Yes Yes SAMD9L (p.E685del) RUNX1, WT1, EVI1, PRAME
P127 c.2666delT p.Phe889SerfsX2 Frameshift Heterozygous De novo     Absent 2023 36969289   P1 SAAD    No Yes Yes    
P128 c.3052G>A p.Glu1018Lys Missense Heterozygous Paternally inherited 19.26   0.0001% 2024 38597819   P1 Severe aplastic anemia     Yes    
P129 c.2663C>T p.Ser888Phe  Missense Heterozygous 25.3   Absent 2025 40725152   P1 MDS         SAMD9L C.3920T>C (P.F1370S)
                                       

Abbreviations:

ALL: acute lymphoblastic leukemia, AML: acute myeloid leukemia, CADD: combined annotation dependent depletion in silico pathogenic scoring, Del: deletion, LCL: lymphoblastoid cell lines, MDS: myelodysplastic syndrome, MDS-EB: MDS with excess blast, MDS-LB: MDS with low blast, SAAD: SAMD9L-mediated autoinflammatory disease, UPD: uniparental isodisomy,