Unknown
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003322.6:c.180del | 4+ |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613843.G.3 | Saudi Arabia | Visual impairment; Congenital stationary cone dysfunction | Unknown | Yes | Yes | 2 members of a family |
| 613843.G.5 | Saudi Arabia | Rod-cone dystrophy | Unknown | No | Family with unknown number of affected members with early-onset retinitis pigmentosa | |
| 613843.G.6 | Saudi Arabia | Retinal dystrophy | Unknown | No | Family with unknown number of affected members | |
| 613843.G.7 | Saudi Arabia | Rod-cone dystrophy | Unknown | Yes | Family with unknown number of affected members. Early onset retinitis pigmentosa | |
| 613843.G.8 | Saudi Arabia | Rod-cone dystrophy | Unknown | Yes | Family with unknown number of affected members. Early onset retinitis pigmentosa |