Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004387.4:c.721_728del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 108900.1.01 | Lebanon | Atrial septal defect | Male | Yes | No | |
| 108900.1.02 | Lebanon | Atrial septal defect | Male | Yes | No | Brother of 108900.1.01 |
| 108900.1.03 | Lebanon | Atrial septal defect | Male | Yes | Yes | Nephew of 108900.1.01 |
| 108900.1.05 | Lebanon | Atrial septal defect | Female | Yes | No | Niece of 108900.1.01 |
| 108900.1.06 | Lebanon | Atrial septal defect | Female | Yes | Yes | Niece of 108900.1.01 |
| 108900.1.07 | Lebanon | Atrial septal defect | Female | Yes | Yes | Niece of 108900.1.01 |
| 108900.1.08 | Lebanon | Atrial septal defect | Male | Yes | Yes | Nephew of 108900.1.01 |
| 108900.1.09 | Lebanon | Atrial septal defect | Female | Yes | Yes | Great-niece of 108900.1.01 |
| 108900.1.10 | Lebanon | Atrial septal defect | Female | Yes | Yes | Great-niece of 108900.1.01 |
| 108900.1.11 | Lebanon | Male | Yes | No | Unaffected great-nephew of 108900.1.01 |