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 |
|---|---|---|---|
| RS2127665995 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2127680021 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS2127683029 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533392146 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533438579 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS746351112 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Leber congenital amaurosis 5, Retinal dystrophy |
| RS748370008 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 5, Retinal dystrophy, Leber congenital amaurosis 5 |
| RS767554181 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 5, Retinal dystrophy, Leber congenital amaurosis 5 |
| RS772573829 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS866130991 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |