Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909149
rs121909149
SH3BP2
0.820 GeneticVariation BEFREE A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature. 24608212

2014
dbSNP: rs121909149
rs121909149
SH3BP2
0.820 GeneticVariation BEFREE Studies on the mouse model for cherubism carrying a P416R knock-in (KI) mutation have revealed that mutant SH3BP2 enhances tumor necrosis factor (TNF)-α production and receptor activator of nuclear factor-κB ligand (RANKL)-induced osteoclast differentiation in myeloid cells. 24916406

2014
dbSNP: rs121909146
rs121909146
SH3BP2
0.820 GeneticVariation BEFREE Transient expression of p.D419N (c.1255G>A), as well as three previously described exon 9 mutations from cherubism patients (p.R415Q (c.1244G>A), p.D420E (c.1259G>A), and p.P418R (c.1253C>G)) increased activity of NFAT (nuclear factor of activated T-cells), an osteoclastogenic mediator, indicating that cherubism results from gain of function mutations in SH3BP2. 16786512

2006
dbSNP: rs121909146
rs121909146
SH3BP2
0.820 GeneticVariation BEFREE The missense mutation Pro418Arg was identified in the SH3BP2 gene from a nonfamilial case of cherubism. 14577811

2003
dbSNP: rs121909146
rs121909146
SH3BP2
0.820 GeneticVariation UNIPROT The missense mutation Pro418Arg was identified in the SH3BP2 gene from a nonfamilial case of cherubism. 14577811

2003
dbSNP: rs121909146
rs121909146
SH3BP2
0.820 GeneticVariation UNIPROT Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. 12900899

2003
dbSNP: rs121909149
rs121909149
SH3BP2
0.820 GeneticVariation UNIPROT Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. 12900899

2003
dbSNP: rs121909149
rs121909149
SH3BP2
0.820 GeneticVariation UNIPROT A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism. 14577811

2003
dbSNP: rs121909146
rs121909146
SH3BP2
0.820 GeneticVariation UNIPROT Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. 11381256

2001
dbSNP: rs121909149
rs121909149
SH3BP2
0.820 GeneticVariation UNIPROT Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. 11381256

2001
dbSNP: rs121909146
rs121909146
SH3BP2
T 0.820 CausalMutation CLINVAR

dbSNP: rs121909146
rs121909146
SH3BP2
G 0.820 CausalMutation CLINVAR

dbSNP: rs121909146
rs121909146
SH3BP2
A 0.820 CausalMutation CLINVAR

dbSNP: rs121909149
rs121909149
SH3BP2
C 0.820 CausalMutation CLINVAR

dbSNP: rs121909149
rs121909149
SH3BP2
A 0.820 CausalMutation CLINVAR

dbSNP: rs28938170
rs28938170
SH3BP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs28938171
rs28938171
SH3BP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs368951667
rs368951667
SH3BP2
0.020 GeneticVariation BEFREE The cherubism case showed a heterozygotic substitution c.320C>T in both blood and lesion. 20002873

2010
dbSNP: rs368951667
rs368951667
SH3BP2
0.020 GeneticVariation BEFREE Two novel mutations were found; a heterozygous missense mutation c.1442A>T (Q481L) in exon 11 in one sporadic case of CGCL and a heterozygous germline and tumor tissue missense mutation c.320C>T (T107M) in exon 4 in one patient with cherubism. 19017279

2009
dbSNP: rs757336022
rs757336022
SH3BP2
0.010 GeneticVariation BEFREE In the second family, another missense mutation Pro418Thr was identified in exon 9 of the SH3BP2 in the patient and his mother with cherubism. 22795151

2013