rs387906818
|
|
|
0.710 |
GeneticVariation |
BEFREE |
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 |
rs387906818
|
|
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 |
rs587777710
|
|
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 |
rs587777710
|
|
|
0.710 |
GeneticVariation |
BEFREE |
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 |
rs1563686762
|
|
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 |
rs1060499548
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
|
28288113 |
2017 |
rs1555628863
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
|
24385578 |
2014 |
rs1057518944
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs113871094
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs141498002
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs143044921
|
|
A |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs1555261576
|
|
T |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs1565286228
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1565977796
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs372359356
|
|
A |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs61729366
|
|
A |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs756636036
|
|
G |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs775394591
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs776720232
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs780263938
|
|
C |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs864309713
|
|
GT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs886040971
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs921444831
|
|
T |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs1028344225
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We previously discovered that the de novo mutations c.1159C>T (p.Arg387Cys) and c.1159C>A (p.Arg387Ser) in the RA Receptor Beta (RARB) gene cause microphthalmia and diaphragmatic hernia.
|
27120018 |
2016 |
rs397518483
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We previously discovered that the de novo mutations c.1159C>T (p.Arg387Cys) and c.1159C>A (p.Arg387Ser) in the RA Receptor Beta (RARB) gene cause microphthalmia and diaphragmatic hernia.
|
27120018 |
2016 |