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 |
|---|---|---|---|---|---|---|
| 613843.5.1 | Saudi Arabia | High hypermetropia; Fundus albipunctatus | Yes | Yes | Patient 7 from family KKESH-204 in the publication | |
| 613843.5.2 | Saudi Arabia | Rotary nystagmus; Optic disc pallor; Attenuation of retinal blood vessels; Pigmentary retinopathy | Yes | Yes | Relative of 613843.5.1 Patient 20 from family KKESH-204 in the publication | |
| 613843.5.3 | Saudi Arabia | Rotary nystagmus; Optic disc pallor; Attenuation of retinal blood vessels; Pigmentary retinopathy | Yes | Yes | Relative of 613843.5.1 Patient 19 from family KKESH-204 in the publication | |
| 613843.5.4 | Saudi Arabia | Rotary nystagmus; Optic disc pallor; Attenuation of retinal blood vessels; Pigmentary retinopathy; Abnormality of retinal pigmentation | Yes | Yes | Relative of 613843.5.1 Patient 18 from family KKESH-204 in the publication | |
| 613843.5.5 | Saudi Arabia | Rotary nystagmus; Attenuation of retinal blood vessels; Abnormality of retinal pigmentation; Undetectable electroretinogram | Yes | Yes | Relative of 613843.5.1 Patient 4 from family KKESH-204 in the publication | |
| 613843.5.6 | Saudi Arabia | Hypermetropia; Nystagmus; Abnormality of retinal pigmentation | Yes | Yes | Relative of 613843.5.1 Patient 6 from family KKESH-204 in the publication | |
| 613843.5.7 | Saudi Arabia | Rotary nystagmus; Attenuation of retinal blood vessels; Bone spicule pigmentation of the retina | Yes | Yes | Relative of 613843.5.1 Patient 42 from family KKESH-204 in the publication | |
| 613843.5.8 | Saudi Arabia | Rotary nystagmus; Attenuation of retinal blood vessels; Retinal pigment epithelial mottling; Aplasia of the fovea | Yes | Yes | Relative of 613843.5.1 Patient 46 from family KKESH-204 in the publication | |
| 613843.5.9 | Saudi Arabia | Rotary nystagmus; Attenuation of retinal blood vessels; Retinal pigment epithelial mottling | Yes | Yes | Relative of 613843.5.1 Patient 48 from family KKESH-204 in the publication | |
| 613843.5.10 | Saudi Arabia | Rotary nystagmus; Hypermetropia; Rod-cone dystrophy | Yes | Yes | Relative of 613843.5.1 Patient 26 from family KKESH-204 in the publication | |
| 613843.5.11 | Saudi Arabia | Rotary nystagmus; Hypermetropia; Attenuation of retinal blood vessels; Bone spicule pigmentation of the retina | Yes | Yes | Relative of 613843.5.1 Patient 27 from family KKESH-204 in the publication | |
| 613843.5.13 | Saudi Arabia | Rotary nystagmus; Attenuation of retinal blood vessels; Bone spicule pigmentation of the retina; Hypermetropia; Slow pupillary light response | Yes | Yes | Relative of 613843.5.1 Patient 15 from family KKESH-204 in the publication |