Links from MedGen
Items: 6
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr20:61461034
- GRCh38:
- Chr20:62829682
| COL9A3 | | Lattice retinal degeneration, Retinal detachment | Likely pathogenic
(Jul 22, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr12:48387804-48387805
- GRCh38:
- Chr12:47994021-47994022
| COL2A1 | G282fs, G213fs | Retinal detachment | Pathogenic
(Jun 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr6:65301608
- GRCh38:
- Chr6:64591715
| EYS | P1385fs | Visual impairment, Blurred vision, Rod-cone dystrophy,
Retinal detachment, Central scotoma | Uncertain significance
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:129251570
- GRCh38:
- Chr3:129532727
| RHO | S297R | Pigmentary retinal dystrophy, not provided, Exudative retinopathy,
Blindness, Nystagmus, Retinal detachment,
Cataract, Rod-cone dystrophy, Progressive visual loss,
Retinal exudate, Optic disc drusenMonocular strabismus,
Abnormality of retinal pigmentation, ...see more | Pathogenic
(Apr 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:43809135-43809136
- GRCh38:
- ChrX:43949889-43949890
| NDP, NDP-AS1 | K104fs | Retinal detachment | Likely pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr20:61453127
- GRCh38:
- Chr20:62821775
| COL9A3 | G130S | Intervertebral disc disorder, Epiphyseal dysplasia, multiple, 3, Connective tissue disorder,
not provided | Uncertain significance
(Jul 3, 2023) | criteria provided, multiple submitters, no conflicts |