Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001098484.3:c.2230G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 604278.1.1 | United Arab Emirates | Renal tubular acidosis; Ocular hypertension | Unknown | |||
| 604278.1.2 | United Arab Emirates | Female | Mother of 604278.1.1 |