Gene: MED12 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338758
rs80338758
MED12
T 0.860 CausalMutation CLINVAR (2007); Nature Genetics 39:451-453] identified an identical mutation (p.R961W) in MED12 in six families with Opitz-Kaveggia syndrome, including a surviving affected man from the original family reported in 1974. 20981778

2010
dbSNP: rs80338758
rs80338758
MED12
T 0.860 CausalMutation CLINVAR We ascertained 23 males with the p.R961W mutation in MED12 from 9 previously reported FG syndrome families and 1 new family.Six patients are reviewed in detail. 19938245

2009
dbSNP: rs80338758
rs80338758
MED12
T 0.860 CausalMutation CLINVAR A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. 17334363

2007
dbSNP: rs80338758
rs80338758
MED12
0.860 GeneticVariation UNIPROT A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. 17334363

2007
dbSNP: rs1057519381
rs1057519381
MED12
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569481124
rs1569481124
MED12
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397515554
rs397515554
MED12
A 0.700 CausalMutation CLINVAR

dbSNP: rs762905361
rs762905361
MED12
A 0.700 CausalMutation CLINVAR

dbSNP: rs765417606
rs765417606
MED12
G 0.700 GeneticVariation CLINVAR

dbSNP: rs80338759
rs80338759
MED12
G 0.700 CausalMutation CLINVAR

dbSNP: rs863223696
rs863223696
MED12
A 0.700 CausalMutation CLINVAR

dbSNP: rs879255526
rs879255526
MED12
G 0.700 CausalMutation CLINVAR

dbSNP: rs879255527
rs879255527
MED12
GC 0.700 CausalMutation CLINVAR