Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875227
rs281875227
SMARCA4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. 28608987

2017
dbSNP: rs281875227
rs281875227
SMARCA4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. 24658001

2014
dbSNP: rs281875227
rs281875227
SMARCA4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Coffin-Siris syndrome is a SWI/SNF complex disorder. 23815551

2014
dbSNP: rs281875227
rs281875227
SMARCA4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. 23637025

2013
dbSNP: rs281875227
rs281875227
SMARCA4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again. 23775540

2013
dbSNP: rs281875227
rs281875227
SMARCA4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 23929686

2013
dbSNP: rs281875227
rs281875227
SMARCA4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308

2012
dbSNP: rs281875227
rs281875227
SMARCA4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. 20137775

2010