| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000138.4:c.5157C>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 231050.3 | Lebanon | Short stature; Mitral stenosis; Tricuspid stenosis | de novo mutation | |||
| 231050.4 | Lebanon | Short stature; Hepatomegaly | de novo mutation | |||
| 231050.6 | Lebanon | Short stature; Bilateral ptosis; Deep palmar crease; Low-set ears; Hypertelorism; Hemangioma; Systolic heart murmur | Female | Yes |