Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:36565617
- GRCh38:
- Chr1:36100016
| COL8A2 | | not provided, Corneal dystrophy, Fuchs endothelial, 1, Posterior polymorphous corneal dystrophy 2
| Benign
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:36563158
- GRCh38:
- Chr1:36097557
| COL8A2 | | Corneal dystrophy, Fuchs endothelial, 1, Posterior polymorphous corneal dystrophy 2, not provided
| Benign
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:36563933
- GRCh38:
- Chr1:36098332
| COL8A2 | L450W, L385W | Posterior polymorphous corneal dystrophy 2, Corneal dystrophy, Fuchs endothelial, 1 | Pathogenic
(Mar 28, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:36563919
- GRCh38:
- Chr1:36098318
| COL8A2 | Q455K, Q390K | Corneal dystrophy, Fuchs endothelial, 1, Posterior polymorphous corneal dystrophy 2 | Pathogenic
(Jan 15, 2012) | no assertion criteria provided |