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 |
|---|---|---|---|
| RS2533368592 | Health Risk | Pathogenic | — |
| RS2533368650 | Health Risk | Pathogenic | — |
| RS2533368810 | Health Risk | Pathogenic | — |
| RS2533369185 | Health Risk | Pathogenic | — |
| RS2533369891 | Health Risk | Pathogenic | — |
| RS2533369994 | Health Risk | Pathogenic | — |
| RS2533370135 | Health Risk | Pathogenic | — |
| RS2533370453 | Health Risk | Pathogenic | — |
| RS2533370854 | Health Risk | Pathogenic | — |
| RS2533371142 | Health Risk | Pathogenic | — |
| RS2533385513 | Health Risk | Pathogenic | — |
| RS2533385678 | Health Risk | Pathogenic | — |
| RS2533385885 | Health Risk | Pathogenic | — |
| RS2533389061 | Health Risk | Pathogenic | — |
| RS2533392056 | Health Risk | Pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533438238 | Health Risk | Pathogenic | — |
| RS2533438349 | Health Risk | Pathogenic | — |
| RS2533438454 | Health Risk | Pathogenic | — |
| RS2533438863 | Health Risk | Pathogenic | — |
| RS2533439828 | Health Risk | Pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533440056 | Health Risk | Pathogenic | — |
| RS2533440335 | Health Risk | Pathogenic | — |
| RS2533440718 | Health Risk | Pathogenic | — |
| RS2533451045 | Health Risk | Pathogenic | — |
| RS2533451734 | Health Risk | Pathogenic | — |
| RS2533451741 | Health Risk | Pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS2533451791 | Health Risk | Pathogenic | — |
| RS374135825 | Health Risk | Pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS386834252 | Health Risk | Pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis, Retinal dystrophy |
| RS386834253 | Health Risk | Pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS750725128 | Health Risk | Pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS765473119 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS766143193 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS776050072 | Health Risk | Pathogenic | — |
| RS781035395 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis 5, Leber congenital amaurosis |
| RS866395428 | Health Risk | Pathogenic | Retinal dystrophy, Leber congenital amaurosis, Inborn genetic diseases |
| RS878853382 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1057519136 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS1178243254 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 5, Leber congenital amaurosis 1 |
| RS1182277140 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS1248460033 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS1286660951 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Leber congenital amaurosis, Leber congenital amaurosis 5 |
| RS1318750068 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS1331645027 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis, Leber congenital amaurosis 5 |
| RS1414684440 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS1429753961 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS1766535009 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS1769696205 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis 5 |
| RS1769707298 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1769904494 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 5, Leber congenital amaurosis, Leber congenital amaurosis 5 |