Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003322.6:c.901C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613843.3.1 | Saudi Arabia | Rod-cone dystrophy | Yes | Yes | Patient 11 from family KKESH-201 in the publication | |
| 613843.3.2 | Saudi Arabia | Rod-cone dystrophy; Attenuation of retinal blood vessels; Reduced visual acuity; Nystagmus; Posterior subcapsular cataract; Abnormal vitreous humor morphology | Yes | Yes | Relative of 613843.3.1 Patient 10 from family KKESH-201 in the publication | |
| 613843.3.3 | Saudi Arabia | Nystagmus; Optic disc pallor; Abnormality of retinal pigmentation | Yes | Yes | Relative of 613843.3.1 Patient 20 from family KKESH-201 in the publication | |
| 613843.3.4 | Saudi Arabia | Optic disc pallor; Attenuation of retinal blood vessels; Bone spicule pigmentation of the retina | Yes | Yes | Relative of 613843.3.1 Patient 12 from family KKESH-201 in the publication | |
| 613843.3.6 | Saudi Arabia | Optic disc pallor; Attenuation of retinal blood vessels; Bone spicule pigmentation of the retina; Hypermetropia | Yes | Yes | Relative of 613843.3.1 Patient 5 from family KKESH-201 in the publication | |
| 613843.3.7 | Saudi Arabia | Nystagmus; Visual impairment; Optic disc pallor; Attenuation of retinal blood vessels; Bone spicule pigmentation of the retina; Undetectable electroretinogram | Yes | Yes | Relative of 613843.3.1 Patient 7 from family KKESH-201 in the publication | |
| 613843.3.8 | Saudi Arabia | Optic disc pallor; Attenuation of retinal blood vessels; Bone spicule pigmentation of the retina | Yes | Yes | Relative of 613843.3.1 Patient 4 from family KKESH-201 in the publication | |
| 613843.3.9 | Saudi Arabia | Nystagmus; Visual impairment; Undetectable electroretinogram; Attenuation of retinal blood vessels; Optic disc pallor | Yes | Yes | Relative of 613843.3.1 Patient 8 from family KKESH-201 in the publication |