LCA5 Chromosome 6
Lebercilin LCA5
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What This Gene Does
This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]
Associated Conditions (8)
Leber congenital amaurosis 5
Leber congenital amaurosis
LCA5-related disorder
Inborn genetic diseases
Retinitis pigmentosa
Retinal dystrophy
Polycystic liver disease 2
Leber congenital amaurosis 1
Key Variants
RS114426854
Conflicting classifications of pathogenicity
Leber congenital amaurosis 5, Leber congenital amaurosis, Leber congenital amaurosis 5
Health Risk
RS115317386
Conflicting classifications of pathogenicity
Leber congenital amaurosis 5, Leber congenital amaurosis 5
Health Risk
RS1180426748
Conflicting classifications of pathogenicity
Leber congenital amaurosis 5, Leber congenital amaurosis 5
Health Risk
RS1196957609
Conflicting classifications of pathogenicity
Leber congenital amaurosis 5, Leber congenital amaurosis 5
Health Risk
RS139142572
Conflicting classifications of pathogenicity
Leber congenital amaurosis 5, Leber congenital amaurosis, LCA5-related disorder
Health Risk
RS139892282
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141642284
Conflicting classifications of pathogenicity
Leber congenital amaurosis 5, Leber congenital amaurosis 5
Health Risk
RS143582502
Conflicting classifications of pathogenicity
Leber congenital amaurosis 5, Leber congenital amaurosis, Leber congenital amaurosis 5
Health Risk
RS144098531
Conflicting classifications of pathogenicity
Leber congenital amaurosis 5, Leber congenital amaurosis 5
Health Risk
RS147032284
Conflicting classifications of pathogenicity
Leber congenital amaurosis 5, Leber congenital amaurosis 5
Health Risk
RS181890907
Conflicting classifications of pathogenicity
Leber congenital amaurosis 5, Leber congenital amaurosis, LCA5-related disorder
Health Risk
RS183011135
Conflicting classifications of pathogenicity
Leber congenital amaurosis 5, Leber congenital amaurosis, Leber congenital amaurosis 5
Health Risk
All Variants (160)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114426854 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis, Leber congenital amaurosis 5 |
| RS115317386 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS1180426748 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS1196957609 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS139142572 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis, LCA5-related disorder |
| RS139892282 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141642284 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS143582502 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis, Leber congenital amaurosis 5 |
| RS144098531 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS147032284 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS181890907 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis, LCA5-related disorder |
| RS183011135 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis, Leber congenital amaurosis 5 |
| RS183669161 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS185347145 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS199557499 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS200395970 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Retinitis pigmentosa, Leber congenital amaurosis 5 |
| RS200988021 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis, Inborn genetic diseases |
| RS367583144 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368885365 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS370115829 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS41270545 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis, Leber congenital amaurosis |
| RS750639988 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS768387283 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS771460783 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS779447463 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS1481559911 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS1766318937 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS1769692830 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1769703329 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS1769843934 | Health Risk | Likely pathogenic | — |
| RS1769905934 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2127665958 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2127667162 | Health Risk | Likely pathogenic | — |
| RS2127679884 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533367339 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533368021 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533368804 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533369355 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533369395 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533369525 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533369844 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533378064 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533386153 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533438023 | Health Risk | Likely pathogenic | — |
| RS2533438140 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533438607 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533439608 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533439675 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533451235 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533451264 | Health Risk | Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |