Gene: RUNX2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893991
rs104893991
RUNX2
0.820 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881

2018
dbSNP: rs104893990
rs104893990
RUNX2
0.810 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881

2018
dbSNP: rs104893989
rs104893989
RUNX2
0.800 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881

2018
dbSNP: rs104893992
rs104893992
RUNX2
0.800 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881

2018
dbSNP: rs104893993
rs104893993
RUNX2
0.800 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881

2018
dbSNP: rs104893995
rs104893995
RUNX2
0.800 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881

2018
dbSNP: rs752933596
rs752933596
RUNX2
0.700 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881

2018
dbSNP: rs104893991
rs104893991
RUNX2
0.820 GeneticVariation UNIPROT Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335

2017
dbSNP: rs104893991
rs104893991
RUNX2
0.820 GeneticVariation BEFREE Here, we describe limb-girdle myopathy, an uncommon phenotype of CCD, in a patient with a heterozygous missense mutation (p.R225Q) in the RUNX2 gene. 28056872

2017
dbSNP: rs104893991
rs104893991
RUNX2
0.820 GeneticVariation UNIPROT Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. 28738062

2017
dbSNP: rs104893990
rs104893990
RUNX2
0.810 GeneticVariation UNIPROT Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335

2017
dbSNP: rs104893990
rs104893990
RUNX2
0.810 GeneticVariation UNIPROT Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. 28738062

2017
dbSNP: rs104893989
rs104893989
RUNX2
0.800 GeneticVariation UNIPROT Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335

2017
dbSNP: rs104893989
rs104893989
RUNX2
0.800 GeneticVariation UNIPROT Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. 28738062

2017
dbSNP: rs104893992
rs104893992
RUNX2
0.800 GeneticVariation UNIPROT Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. 28738062

2017
dbSNP: rs104893992
rs104893992
RUNX2
0.800 GeneticVariation UNIPROT Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335

2017
dbSNP: rs104893993
rs104893993
RUNX2
0.800 GeneticVariation UNIPROT Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. 28738062

2017
dbSNP: rs104893993
rs104893993
RUNX2
0.800 GeneticVariation UNIPROT Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335

2017
dbSNP: rs104893995
rs104893995
RUNX2
0.800 GeneticVariation UNIPROT Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. 28738062

2017
dbSNP: rs104893995
rs104893995
RUNX2
0.800 GeneticVariation UNIPROT Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335

2017
dbSNP: rs752933596
rs752933596
RUNX2
0.700 GeneticVariation UNIPROT Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335

2017
dbSNP: rs752933596
rs752933596
RUNX2
0.700 GeneticVariation UNIPROT Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. 28738062

2017
dbSNP: rs864621970
rs864621970
RUNX2
A 0.700 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986

2015
dbSNP: rs104893991
rs104893991
RUNX2
0.820 GeneticVariation UNIPROT A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up. 24984680

2014
dbSNP: rs104893991
rs104893991
RUNX2
0.820 GeneticVariation BEFREE On the basis of the structural analysis, this study further demonstrated that the p.R225Q mutation abolished DNA binding by RUNX2 and its results also suggested that other genetic and/or environmental factors could affect the CCD phenotypes. 24634175

2014