Unique variants in gene IDH2


This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
Information The variants shown are described using the NM_002168.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.115+7G>A r.(=) p.(=) - likely benign g.90645501C>T - IDH2(NM_002168.3):c.115+7G>A - IDH2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 3 c.265C>T r.(?) p.(Arg89Cys) ACMG likely pathogenic g.90633819G>A g.90090587G>A - - IDH2_000003 - PubMed: TumienÄ— 2018 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.327G>A r.(?) p.(Val109=) - likely benign g.90633757C>T g.90090525C>T IDH2(NM_002168.3):c.327G>A (p.V109=) - IDH2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.407A>C r.(?) p.(Asn136Thr) - VUS g.90631946T>G g.90088714T>G - - IDH2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.563G>A r.(?) p.(Arg188Gln) - likely benign g.90631706C>T g.90088474C>T IDH2(NM_002168.3):c.563G>A (p.R188Q) - IDH2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.730T>C r.(?) p.(Trp244Arg) - likely benign g.90630756A>G g.90087524A>G IDH2(NM_002168.2):c.730T>C (p.(Trp244Arg)) - IDH2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.782G>A r.(?) p.(Arg261His) - likely benign g.90630704C>T - IDH2(NM_002168.3):c.782G>A (p.R261H) - IDH2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.810T>G r.(?) p.(Phe270Leu) - likely benign g.90630676A>C g.90087444A>C IDH2(NM_002168.2):c.810T>G (p.(Phe270Leu)) - IDH2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.939A>G r.(?) p.(Gly313=) - likely benign g.90630372T>C g.90087140T>C IDH2(NM_002168.2):c.939A>G (p.(=)) - IDH2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.996C>T r.(?), r.(=) p.(Ser332=), p.(=) - benign, likely benign g.90628591G>A g.90085359G>A IDH2(NM_002168.2):c.996C>T (p.(=)) - IDH2_000010 VKGL data sharing initiative Nederland, 75 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs61737003 CLASSIFICATION record, Germline - 75/2795 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
-?/. 1 - c.1050C>T r.(?) p.(Thr350=) - likely benign g.90628537G>A g.90085305G>A IDH2(NM_002168.2):c.1050C>T (p.(=)) - IDH2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1178+8T>C r.(=) p.(=) - likely benign g.90628225A>G g.90084993A>G IDH2(NM_002168.3):c.1178+8T>C - IDH2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1304C>T r.(?) p.(Thr435Met) - likely benign g.90627553G>A g.90084321G>A IDH2(NM_002168.2):c.1304C>T (p.(Thr435Met)), IDH2(NM_002168.3):c.1304C>T (p.T435M) - IDH2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
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