Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338758
rs80338758
MED12
CUI: C0220769
Disease: FG syndrome
FG syndrome 		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
CUI: C0220769
Disease: FG syndrome
FG syndrome 		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
CUI: C0220769
Disease: FG syndrome
FG syndrome 		T 0.860 CausalMutation CLINVAR A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. 17334363

2007