|
rs371769427
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs387906631
|
|
A |
0.820 |
SusceptibilityMutation |
CLINVAR |
|
|
|
|
rs193303018
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs752746786
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1800562
|
|
|
0.050 |
GeneticVariation |
BEFREE |
49 patients with MM were compared to 61 patients with myelodysplastic syndrome (MDS) concerning the incidence of two genetic variants of the HFE gene (C282Y and H63D) identified with PCR-RFLP.
|
17001480 |
2006 |
|
rs1799945
|
|
|
0.040 |
GeneticVariation |
BEFREE |
49 patients with MM were compared to 61 patients with myelodysplastic syndrome (MDS) concerning the incidence of two genetic variants of the HFE gene (C282Y and H63D) identified with PCR-RFLP.
|
17001480 |
2006 |
|
rs1470755915
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6.
|
20878158 |
2011 |
|
rs3745274
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6.
|
20878158 |
2011 |
|
rs927698341
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6.
|
20878158 |
2011 |
|
rs371769427
|
|
|
0.850 |
GeneticVariation |
BEFREE |
MDS and acute myeloid leukemia patient samples harboring U2AF35(S34F) have a similar increased use of the ATG7 distal CP site, and previous studies have shown that mice with hematopoietic cells lacking Atg7 develop an MDS-like syndrome.
|
27184077 |
2016 |
|
rs387906717
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A recently identified WASp(I294T) mutation was shown to render WASp constitutively active in vivo, causing increased filamentous (F)-actin polymerization, high podosome turnover in macrophages, and myelodysplasia.
|
20354175 |
2010 |
|
rs762622506
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A search for the second hit which led to the development of MDS and later AML in this individual revealed the PHF6 gene variant (exon9:c.872G > A:p.G291E; NM_001015877), BCORL1 (exon3:c.1111A > C:p.T371P; NM_001184772) and BCOR gene variant (exon4:c.2076dupT:p.P693fs; NM_001123383), which appear to be very likely second hits participating in the progression to myeloid malignancy.
|
30083851 |
2018 |
|
rs867679539
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A search for the second hit which led to the development of MDS and later AML in this individual revealed the PHF6 gene variant (exon9:c.872G > A:p.G291E; NM_001015877), BCORL1 (exon3:c.1111A > C:p.T371P; NM_001184772) and BCOR gene variant (exon4:c.2076dupT:p.P693fs; NM_001123383), which appear to be very likely second hits participating in the progression to myeloid malignancy.
|
30083851 |
2018 |
|
rs121913500
|
|
|
0.710 |
GeneticVariation |
BEFREE |
All the initial diagnostic specimens with IDH1 p.R132H mutation including acute myeloid leukemia (n=30), myelodysplastic syndromes (MDS) (n=10), MDS/myeloproliferative neoplasms (MPN) (n=4), and MPN (n=5) were positive by IHC, demonstrating 100% antibody sensitivity.
|
29635257 |
2018 |
|
rs118101777
|
|
|
0.010 |
GeneticVariation |
BEFREE |
All the initial diagnostic specimens with IDH1 p.R132H mutation including acute myeloid leukemia (n=30), myelodysplastic syndromes (MDS) (n=10), MDS/myeloproliferative neoplasms (MPN) (n=4), and MPN (n=5) were positive by IHC, demonstrating 100% antibody sensitivity.
|
29635257 |
2018 |
|
rs387907272
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Allele-specific oligonucleotide-polymerase chain reaction was used for the detection of the MYD88 L265P variant, next-generation sequencing was applied to analyze NLRP3 and 28 genes associated with myelodysplastic syndrome, and gene scanning was performed for the detection of X chromosome inactivation.
|
31268627 |
2019 |
|
rs138817062
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although HIPK2 mutations (R861W and N951I) were found in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) patients, little is known about the underlying mechanisms by which HIPK2 mutations are associated with the pathogenesis of leukemia.
|
30755814 |
2019 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
At the time of MDS to CMML evolution, mutations in JAK2 (V617F), FLT3 (ITD), K-ras-2, or N-ras were not acquired, and only 1 (6%) of 17 evaluable cases showed cytogenetic progression.
|
17050076 |
2006 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Because detailed clinical and hematological characteristics of CBL-mutated cases is lacking, we screened 156 BCR-ABL and JAK2 V617F negative patients with myeloproliferative neoplasms (MPN) and overlap syndromes between myelodysplastic syndrome (MDS) and MPN (MPS/MPN) for mutations in exons 8 and 9 of CBL by denaturing high-performance liquid chromatography and direct sequencing.
|
23010802 |
2012 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), 101 with MDS, 11 with hypereosinophilic syndrome (HES), 8 with systemic mastocytosis (SM), and 6 with chronic neutrophilic leukemia (CNL)--was screened for the JAK2 V617F mutation.
|
15860661 |
2005 |
|
rs371769427
|
|
A |
0.850 |
GeneticVariation |
CLINVAR |
Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression.
|
23861105 |
2013 |
|
rs1695
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Genetic polymorphism of GSTM1, GSTT1 and GSTP1 Ile105Val was investigated in a case-control study in a Hungarian patient population comprising 86 patients with myelodysplastic syndrome and 99 hospital-based controls.
|
18493876 |
2008 |
|
rs1800562
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and H63D mutations of the HFE gene responsible for hereditary hemochromatosis revealed a significantly increased frequency of these mutations when compared to healthy blood donors reflecting the average population.
|
12624489 |
2003 |
|
rs1799945
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and H63D mutations of the HFE gene responsible for hereditary hemochromatosis revealed a significantly increased frequency of these mutations when compared to healthy blood donors reflecting the average population.
|
12624489 |
2003 |
|
rs559063155
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts.
|
27604819 |
2017 |