Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677

2019
dbSNP: rs775394591
rs775394591
FREM2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs776720232
rs776720232
PGAP3
C 0.700 CausalMutation CLINVAR

dbSNP: rs780263938
rs780263938
GLI3
C 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1057518944
rs1057518944
NIPBL
G 0.700 GeneticVariation CLINVAR

dbSNP: rs756636036
rs756636036
ROBO4 ; LOC107984406
G 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs864309713
rs864309713
FBN1
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs387906818
rs387906818
GATA6
T 0.710 CausalMutation CLINVAR In the first family, we identified a de novo missense mutation (c.1366C>T, p.R456C) in a sporadic CDH patient with tetralogy of Fallot. 24385578

2014
dbSNP: rs587777710
rs587777710
GATA6
T 0.710 CausalMutation CLINVAR In the second, a nonsense mutation (c.712G>T, p.G238*) was identified in two siblings with CDH and a large ventricular septal defect. 24385578

2014
dbSNP: rs1555261576
rs1555261576
FREM2
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1565286228
rs1565286228
MYRF
T 0.700 CausalMutation CLINVAR

dbSNP: rs921444831
rs921444831
FRAS1
T 0.700 SusceptibilityMutation CLINVAR