Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005159.4:c.251T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612794.1.01 | Lebanon | Secundum atrial septal defect ; Right bundle branch block ; Pulmonary arterial hypertension | Female | Yes | No | |
| 612794.1.02 | Lebanon | Secundum atrial septal defect ; Pulmonic stenosis ; Left anterior fascicular block ; Right bundle branch block | Male | Yes | No | Son of 612794.1.01 |
| 612794.1.03 | Lebanon | Secundum atrial septal defect ; Pulmonary arterial hypertension | Male | Yes | No | Brother of 612794.1.01 |
| 612794.1.04 | Lebanon | Secundum atrial septal defect ; Right bundle branch block ; Pulmonary arterial hypertension | Female | Yes | No | Niece of 612794.1.01 |
| 612794.1.05 | Lebanon | Secundum atrial septal defect ; Pulmonary arterial hypertension ; Wolff-Parkinson-White syndrome | Male | Yes | No | Nephew of 612794.1.01 |
| 612794.1.06 | Lebanon | Secundum atrial septal defect ; Left ventricular hypertrophy | Male | Yes | No | Nephew of 612794.1.01 |
| 612794.1.07 | Lebanon | Secundum atrial septal defect ; Pulmonic stenosis ; Hypertelorism ; Diastema ; Cleft lip ; Pectus excavatum | Female | Yes | No | Great niece of 612794.1.01 |
| 612794.1.08 | Lebanon | Secundum atrial septal defect ; Ebstein anomaly of the tricuspid valve ; Right bundle branch block ; Hypertelorism ; Pectus excavatum | Female | Yes | No | Great niece of 612794.1.01 |
| 612794.1.10 | Lebanon | Secundum atrial septal defect ; Left anterior fascicular block ; Right bundle branch block ; Atrial fibrillation ; Pulmonary arterial hypertension ; Pectus excavatum | Male | Yes | No | Brother of 612794.1.01 |
| 612794.1.11 | Lebanon | Secundum atrial septal defect ; Sinus bradycardia ; Right bundle branch block ; Pectus excavatum ; Kyphoscoliosis | Male | Yes | No | Nephew of 612794.1.01 |
| 612794.1.12 | Lebanon | Perimembranous ventricular septal defect | Female | Yes | No | Great niece of 612794.1.01 |
| 612794.1.13 | Lebanon | Secundum atrial septal defect ; Aortic valve stenosis ; Pulmonary arterial hypertension ; Hypertelorism ; Pectus excavatum | Male | Yes | No | Great nephew of 612794.1.01 |