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 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 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
dbSNP: rs104893990
rs104893990
RUNX2
0.810 GeneticVariation BEFREE Here, we describe two de novo missense mutations, Met175Arg and Ser191Asn, in the OSF2/CBFA1 gene in two patients with CCD. 9207800

1997
dbSNP: rs1428979499
rs1428979499
RUNX2
0.010 GeneticVariation BEFREE The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta. 20225274

2010
dbSNP: rs759100705
rs759100705
RUNX2
0.010 GeneticVariation BEFREE A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene. 23220435

2012
dbSNP: rs104893991
rs104893991
RUNX2
A 0.820 CausalMutation CLINVAR

dbSNP: rs104893990
rs104893990
RUNX2
A 0.810 CausalMutation CLINVAR

dbSNP: rs104893989
rs104893989
RUNX2
G 0.800 CausalMutation CLINVAR

dbSNP: rs104893992
rs104893992
RUNX2
T 0.800 CausalMutation CLINVAR

dbSNP: rs104893993
rs104893993
RUNX2
G 0.800 CausalMutation CLINVAR

dbSNP: rs104893995
rs104893995
RUNX2
C 0.800 CausalMutation CLINVAR

dbSNP: rs104893988
rs104893988
RUNX2
A 0.700 CausalMutation CLINVAR

dbSNP: rs104893994
rs104893994
RUNX2
C 0.700 CausalMutation CLINVAR

dbSNP: rs397515537
rs397515537
RUNX2
T 0.700 CausalMutation CLINVAR

dbSNP: rs397515538
rs397515538
RUNX2
GC 0.700 CausalMutation CLINVAR

dbSNP: rs730880313
rs730880313
RUNX2
ACAGCAGCAGCAGCAGCAGCAACAGCAGCCG 0.700 CausalMutation CLINVAR

dbSNP: rs730880315
rs730880315
RUNX2
TC 0.700 CausalMutation CLINVAR

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 RUNX2 mutations in cleidocranial dysplasia patients. 19744171

2010
dbSNP: rs104893991
rs104893991
RUNX2
0.820 GeneticVariation UNIPROT Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype. 16270353

2006
dbSNP: rs104893991
rs104893991
RUNX2
0.820 GeneticVariation UNIPROT CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 10545612

1999
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 UNIPROT Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. 12424590

2002
dbSNP: rs104893991
rs104893991
RUNX2
0.820 GeneticVariation UNIPROT New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia. 12081718

2002
dbSNP: rs104893991
rs104893991
RUNX2
0.820 GeneticVariation UNIPROT A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia. 20082269

2010