Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_058229.4:c.727G>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 115200.1.01 | Saudi Arabia | Respiratory distress; Easy fatigability; Systolic heart murmur; Cardiomegaly; Pulmonary edema; Sinus tachycardia; Left ventricular hypertrophy; Hypokinesia; Congestive heart failure | Female | Yes | Yes | Proband |
| 115200.1.02 | Saudi Arabia | Asymptomatic | Female | Yes | Yes | Sister of 115200.1.01 |
| 115200.1.03 | Saudi Arabia | Asymptomatic | Female | Yes | Yes | Sister of 115200.1.01 |
| 115200.1.05 | Saudi Arabia | Male | Yes | Father of 115200.1.01 | ||
| 115200.1.06 | Saudi Arabia | Female | Yes | Mother of 115200.1.01 | ||
| 115200.1.07 | Saudi Arabia | Male | Yes | Yes | Brother of 115200.1.01 | |
| 115200.1.08 | Saudi Arabia | Female | Yes | Yes | Sister of 115200.1.01 | |
| 115200.1.09 | Saudi Arabia | Male | Yes | Yes | Brother of 115200.1.01 | |
| 115200.1.10 | Saudi Arabia | Male | Yes | Yes | Brother of 115200.1.01 |