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

2018

dbSNP: rs104893991
rs104893991
0.810 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
0.810 GeneticVariation UNIPROT Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype. 16270353

2006

dbSNP: rs104893991
rs104893991
0.810 GeneticVariation UNIPROT Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. 11857736

2002

dbSNP: rs104893991
rs104893991
0.810 GeneticVariation UNIPROT Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. 12196916

2002

dbSNP: rs104893990
rs104893990
0.810 GeneticVariation UNIPROT CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 10545612

1999

dbSNP: rs104893991
rs104893991
0.810 CausalMutation CLINVAR Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 10521292

1999

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

1999

dbSNP: rs104893991
rs104893991
0.810 GeneticVariation UNIPROT Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 10521292

1999

dbSNP: rs104893990
rs104893990
0.810 GeneticVariation UNIPROT Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. 9207800

1997

dbSNP: rs104893990
rs104893990
0.810 CausalMutation CLINVAR Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. 9207800

1997

dbSNP: rs104893990
rs104893990
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: rs104893989
rs104893989
0.800 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881

2018

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

2017

dbSNP: rs104893992
rs104893992
0.800 GeneticVariation UNIPROT RUNX2 mutations in cleidocranial dysplasia patients. 19744171

2010

dbSNP: rs104893995
rs104893995
0.800 CausalMutation CLINVAR Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. 12424590

2003

dbSNP: rs104893995
rs104893995
0.800 GeneticVariation UNIPROT Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. 12424590

2003

dbSNP: rs104893992
rs104893992
0.800 GeneticVariation UNIPROT Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. 12196916

2002

dbSNP: rs104893992
rs104893992
0.800 GeneticVariation UNIPROT Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. 11857736

2002

dbSNP: rs104893995
rs104893995
0.800 GeneticVariation UNIPROT Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. 11857736

2002

dbSNP: rs104893989
rs104893989
0.800 GeneticVariation UNIPROT CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 10545612

1999

dbSNP: rs104893992
rs104893992
0.800 GeneticVariation UNIPROT Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 10521292

1999

dbSNP: rs104893992
rs104893992
0.800 CausalMutation CLINVAR Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 10521292

1999

dbSNP: rs104893993
rs104893993
0.800 CausalMutation CLINVAR CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 10545612

1999

dbSNP: rs104893993
rs104893993
0.800 GeneticVariation UNIPROT CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 10545612

1999