Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519736
rs1057519736
IDH2
0.020 GeneticVariation BEFREE A p.R172S IDH2 mutation was identified in 4 enchondromas, but not in the ependymoma from one patient with Ollier disease, who further displayed a heterozygous STK11 missense mutation. 31240473

2019
dbSNP: rs121913500
rs121913500
IDH1
0.020 GeneticVariation BEFREE A common point mutation in IDH1 (R132H) was detected in the patient's enchondroma and glioma-matched pair specimens. 29224049

2018
dbSNP: rs1057519736
rs1057519736
IDH2
0.020 GeneticVariation BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234

2011
dbSNP: rs121913500
rs121913500
IDH1
0.020 GeneticVariation BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234

2011
dbSNP: rs121913500
rs121913500
IDH1
0.020 GeneticVariation BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234

2011
dbSNP: rs118101777
rs118101777
IDH2
0.010 GeneticVariation BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234

2011
dbSNP: rs121913499
rs121913499
IDH1
0.010 GeneticVariation BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234

2011
dbSNP: rs1027263198
rs1027263198
PTH1R
0.010 GeneticVariation BEFREE Two mutations (p.G121E, p.A122T) were present only in enchondromas, and one (p.R255H) in both enchondroma and leukocyte DNA. 18559376

2008
dbSNP: rs1131691907
rs1131691907
GNAS ; GNAS-AS1
0.010 GeneticVariation BEFREE Two mutations (p.G121E, p.A122T) were present only in enchondromas, and one (p.R255H) in both enchondroma and leukocyte DNA. 18559376

2008
dbSNP: rs1203182324
rs1203182324
GNAS
0.010 GeneticVariation BEFREE Two mutations (p.G121E, p.A122T) were present only in enchondromas, and one (p.R255H) in both enchondroma and leukocyte DNA. 18559376

2008
dbSNP: rs121434601
rs121434601
PTH1R
0.010 GeneticVariation BEFREE In agreement, a functionally deleterious mutation in PTHR1 (p.R150C) was identified in enchondromas from two of six unrelated patients with enchondromatosis. 18559376

2008
dbSNP: rs1328937750
rs1328937750
GNAS
0.010 GeneticVariation BEFREE Two mutations (p.G121E, p.A122T) were present only in enchondromas, and one (p.R255H) in both enchondroma and leukocyte DNA. 18559376

2008
dbSNP: rs1369025856
rs1369025856
GNAS
0.010 GeneticVariation BEFREE Two mutations (p.G121E, p.A122T) were present only in enchondromas, and one (p.R255H) in both enchondroma and leukocyte DNA. 18559376

2008
dbSNP: rs137854532
rs137854532
GNAS
0.010 GeneticVariation BEFREE In agreement, a functionally deleterious mutation in PTHR1 (p.R150C) was identified in enchondromas from two of six unrelated patients with enchondromatosis. 18559376

2008
dbSNP: rs200197785
rs200197785
PTH1R
0.010 GeneticVariation BEFREE Two mutations (p.G121E, p.A122T) were present only in enchondromas, and one (p.R255H) in both enchondroma and leukocyte DNA. 18559376

2008
dbSNP: rs375486178
rs375486178
GNAS
0.010 GeneticVariation BEFREE Two mutations (p.G121E, p.A122T) were present only in enchondromas, and one (p.R255H) in both enchondroma and leukocyte DNA. 18559376

2008