Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371769427
rs371769427
0.820 GeneticVariation BEFREE The high frequency of the U2AF1 S34Y mutation and its association with isolated trisomy 8 in myelodysplastic syndrome in Asians, but not in Caucasians. 28938223

2017

dbSNP: rs371769427
rs371769427
0.820 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs371769427
rs371769427
0.820 GeneticVariation BEFREE These data suggest that the S34F mutation alters U2AF1 function in the context of specific RNA sequences, leading to aberrant alternative splicing of target genes, some of which may be relevant for MDS pathogenesis. 25311244

2015

dbSNP: rs371769427
rs371769427
0.820 GeneticVariation UNIPROT U2AF1 mutations alter sequence specificity of pre-mRNA binding and splicing. 25311244

2015

dbSNP: rs371769427
rs371769427
0.820 GeneticVariation CLINVAR Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression. 23861105

2013

dbSNP: rs371769427
rs371769427
0.820 GeneticVariation UNIPROT Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. 22158538

2012

dbSNP: rs387906631
rs387906631
0.820 GeneticVariation BEFREE Here, we describe a previously unreported MDS family carrying a missense GATA2 mutation (p.Thr354Met), one patient with MDS/AML carrying a frameshift GATA2 mutation (p.Leu332Thrfs*53), another with MDS harboring a GATA2 splice site mutation, and 3 patients exhibiting MDS or MDS/AML who have large deletions encompassing the GATA2 locus. 22147895

2012

dbSNP: rs387906631
rs387906631
0.820 SusceptibilityMutation CLINVAR The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. 21242295

2011

dbSNP: rs387906631
rs387906631
0.820 SusceptibilityMutation CLINVAR Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. 21765025

2011

dbSNP: rs387906631
rs387906631
0.820 GeneticVariation BEFREE We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family. 21892162

2011

dbSNP: rs387906631
rs387906631
0.820 SusceptibilityMutation CLINVAR Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. 21670465

2011

dbSNP: rs387906631
rs387906631
0.820 SusceptibilityMutation CLINVAR Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 21892162

2011

dbSNP: rs387906631
rs387906631
0.820 SusceptibilityMutation CLINVAR Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. 20040766

2010

dbSNP: rs387906631
rs387906631
0.820 GeneticVariation UNIPROT

dbSNP: rs371246226
rs371246226
0.810 GeneticVariation BEFREE We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F and S34Y) or Q157 (Q157R and Q157P) in 11% of the patients with de novo myelodysplastic syndrome (MDS). 25311244

2015

dbSNP: rs371246226
rs371246226
0.810 GeneticVariation UNIPROT U2AF1 mutations alter sequence specificity of pre-mRNA binding and splicing. 25311244

2015

dbSNP: rs371246226
rs371246226
0.810 GeneticVariation CLINVAR U2AF1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome. 23029227

2013

dbSNP: rs371246226
rs371246226
0.810 GeneticVariation CLINVAR Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression. 23861105

2013

dbSNP: rs371246226
rs371246226
0.810 GeneticVariation UNIPROT Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. 22158538

2012

dbSNP: rs121913499
rs121913499
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913502
rs121913502
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913499
rs121913499
0.710 GeneticVariation BEFREE In the current study of 277 patients with MDS, IDH mutations were detected in 34 (12%) cases: 26 IDH2 (all R140Q) and 8 IDH1 (6 R132S and 2 R132C). 22033490

2012

dbSNP: rs121913502
rs121913502
0.710 GeneticVariation BEFREE In the current study of 277 patients with MDS, IDH mutations were detected in 34 (12%) cases: 26 IDH2 (all R140Q) and 8 IDH1 (6 R132S and 2 R132C). 22033490

2012

dbSNP: rs752746786
rs752746786
0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2017

dbSNP: rs104894229
rs104894229
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016