Overview
- Term
- Leber congenital amaurosis
- HPO
- -
- OMIM
- -
- In SaudiVarKB
- 26 articles, 26 mentions
Co-reported genes
Genes named in the same articles as Leber congenital amaurosis. Co-mention, not a proven association.
and 9 more
Variants in these articles
Variants reported in articles that mention Leber congenital amaurosis; the gene is shown only when the link was confirmed by dbSNP or LitVar2.
| Variant | Gene | Articles |
|---|---|---|
| G253C | - | 1 |
| c.1007delA | - | 1 |
| c.136C>T | - | 1 |
| c.2129C>T | - | 1 |
| c.253G>C | - | 1 |
| c.3134del | - | 1 |
| c.497G>A | - | 1 |
| p.Ala710Val | GUCY2D | 1 |
| p.Arg361* | - | 1 |
| p.Arg46* | - | 1 |
| p.Asn114His | - | 1 |
| p.Asp142Gly | - | 1 |
| p.Cys166Tyr | - | 1 |
| p.E85Q | - | 1 |
| p.Leu42Phe | - | 1 |
| p.Pro467Ala | - | 1 |
| p.R651X | MERTK | 1 |
Saudi regions
No Saudi region named.