Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000257.4:c.1357C>T |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 192600.2.1 | Lebanon | Exertional dyspnea; Palpitations; Atrial flutter; Hypertrophic cardiomyopathy | Male | Yes | Proband | |
| 192600.2.2 | Lebanon | Hypertrophic cardiomyopathy | Female | Mother of 192600.2.1 | ||
| 192600.2.3 | Lebanon | Abnormal echocardiogram | Male | Yes | Son of 192600.2.1 |