No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001195129.2:c.1066dup | 4 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613517.G.1 | Saudi Arabia | High hypermetropia; Microphthalmia | Yes | 5 affected siblings | ||
| 613517.G.2 | Saudi Arabia | High hypermetropia; Microphthalmia | No | 3 affected siblings | ||
| 613517.G.3 | Saudi Arabia | High hypermetropia; Microphthalmia | No | 4 affected siblings | ||
| 613517.G.5 | Saudi Arabia | High hypermetropia; Microphthalmia | No | 2 affected siblings |