Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001170754.2:c.337C>T | 2 | NA | ||
| NM_015409.5:c.323C>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 244400.3.1 | United Arab Emirates | Heterotaxy; Asplenia; Midline liver; Pulmonic stenosis; Abnormal superior vena cava morphology; Abnormal inferior vena cava morphology; Interrupted aortic arch | Yes | 'Patient 1' in the publication. Primary ciliary dyskinesia-related gene detected in this patient. | ||
| 244400.3.2 | United Arab Emirates | Male | Father of 244400.3.1 | |||
| 244400.3.3 | United Arab Emirates | Female | Mother of 244400.3.1 | |||
| 244400.3.5 | United Arab Emirates | Male | Father of 244400.3.4 | |||
| 244400.3.6 | United Arab Emirates | Female | Mother of 244400.3.4 |