IDH2, isocitrate dehydrogenase (NADP(+)) 2, 3418

N. diseases: 380; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773159667
rs773159667
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation BEFREE We found three missense (p.R132C, p.R132G, and p.I99M; occurred in five patients) and one silent mutation (c.315C>T; occurred in two patients) in the IDH1 gene and two missense mutations (p.R140Q and p.R172K; occurred in four AML patients) and one silent mutation (c.435G>A) in the IDH2 gene. 20946881 2010
dbSNP: rs749395621
rs749395621
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0206682
Disease:
Follicular thyroid carcinoma 		0.010 GeneticVariation BEFREE A previously described IDH1 V71I mutation was found in a case of FTC and a case of ATC and no mutations were found in the cell lines. 20171178 2010
dbSNP: rs749395621
rs749395621
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0238461
Disease:
Anaplastic thyroid carcinoma 		0.010 GeneticVariation BEFREE A previously described IDH1 V71I mutation was found in a case of FTC and a case of ATC and no mutations were found in the cell lines. 20171178 2010
dbSNP: rs529638451
rs529638451
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 GeneticVariation BEFREE The p.Lys130Met was found in one case diagnosed with Waldenstrom's disease with familial history of cancer. 27591990 2016
dbSNP: rs529638451
rs529638451
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C1611743
Disease:
Familial (FPAH) 		0.010 GeneticVariation BEFREE The p.Lys130Met was found in one case diagnosed with Waldenstrom's disease with familial history of cancer. 27591990 2016
dbSNP: rs529638451
rs529638451
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0599055
Disease:
Waldenstrom's disease 		0.010 GeneticVariation BEFREE The p.Lys130Met was found in one case diagnosed with Waldenstrom's disease with familial history of cancer. 27591990 2016
dbSNP: rs529638451
rs529638451
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE The p.Lys130Met was found in one case diagnosed with Waldenstrom's disease with familial history of cancer. 27591990 2016
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C3150909
Disease:
D-2-HYDROXYGLUTARIC ACIDURIA 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C3150909
Disease:
D-2-HYDROXYGLUTARIC ACIDURIA 2 		0.800 GeneticVariation UNIPROT IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. 20847235 2010
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.710 GeneticVariation BEFREE IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples). 20410924 2010
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.710 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.710 CausalMutation CLINVAR Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. 22417203 2012
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.710 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010 2011
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.710 CausalMutation CLINVAR The role of mutations in epigenetic regulators in myeloid malignancies. 22898539 2012
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0026764
Disease:
Multiple Myeloma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0009404
Disease:
Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0001815
Disease:
Primary Myelofibrosis 		0.010 GeneticVariation BEFREE IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples). 20410924 2010
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C2746066
Disease:
Combined D-2- and L-2-hydroxyglutaric aciduria 		0.010 GeneticVariation BEFREE The recent discovery of heterozygous isocitrate dehydrogenase 2 (IDH2) mutations of residue Arg(140) to Gln(140) or Gly(140) (IDH2(wt/R140Q), IDH2(wt/R140G)) in d-2-hydroxyglutaric aciduria (D-2-HGA) has defined the primary genetic lesion in 50% of D-2-HGA patients, denoted type II. 21889589 2011
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C1833429
Disease:
D-2-hydroxyglutaric aciduria 		0.010 GeneticVariation BEFREE The recent discovery of heterozygous isocitrate dehydrogenase 2 (IDH2) mutations of residue Arg(140) to Gln(140) or Gly(140) (IDH2(wt/R140Q), IDH2(wt/R140G)) in d-2-hydroxyglutaric aciduria (D-2-HGA) has defined the primary genetic lesion in 50% of D-2-HGA patients, denoted type II. 21889589 2011
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0032463
Disease:
Polycythemia Vera 		0.010 GeneticVariation BEFREE IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples). 20410924 2010
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C3152055
Disease:
D-2-HYDROXYGLUTARIC ACIDURIA 1 		0.010 GeneticVariation BEFREE The recent discovery of heterozygous isocitrate dehydrogenase 2 (IDH2) mutations of residue Arg(140) to Gln(140) or Gly(140) (IDH2(wt/R140Q), IDH2(wt/R140G)) in d-2-hydroxyglutaric aciduria (D-2-HGA) has defined the primary genetic lesion in 50% of D-2-HGA patients, denoted type II. 21889589 2011
dbSNP: rs200758694
rs200758694
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation BEFREE We found three missense (p.R132C, p.R132G, and p.I99M; occurred in five patients) and one silent mutation (c.315C>T; occurred in two patients) in the IDH1 gene and two missense mutations (p.R140Q and p.R172K; occurred in four AML patients) and one silent mutation (c.435G>A) in the IDH2 gene. 20946881 2010
dbSNP: rs1435266782
rs1435266782
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0206638
Disease:
Giant Cell Tumor of Bone 		0.010 GeneticVariation BEFREE One of two atypical GCTB cases with wild-type H3F3A had a H3F3B mutation (p.G34V).Other mutated genes were not recurrent. 28545165 2017