LCA5 Chromosome 6

Lebercilin LCA5
160 variants 160 Health Risk

Upload your DNA to see your personal genotypes for variants in LCA5.

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
RS2533451770 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS377719240 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS748907928 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS753594556 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS757681601 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS761872177 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS761896026 Health Risk Likely pathogenic LCA5-related disorder, LCA5-related disorder
RS786205653 Health Risk Likely pathogenic —
RS1188175909 Health Risk Pathogenic —
RS1203370819 Health Risk Pathogenic —
RS121918165 Health Risk Pathogenic Leber congenital amaurosis 5, Inborn genetic diseases, Retinal dystrophy
RS1240302846 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1268307330 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1372793089 Health Risk Pathogenic —
RS1453987164 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS151017794 Health Risk Pathogenic Retinitis pigmentosa, Leber congenital amaurosis 5, Polycystic liver disease 2
RS1562106804 Health Risk Pathogenic —
RS1766298401 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1766311095 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1766311263 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1766311895 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1766523611 Health Risk Pathogenic —
RS1766524422 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1766528592 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1769695958 Health Risk Pathogenic —
RS1769706250 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1769707423 Health Risk Pathogenic —
RS1769710277 Health Risk Pathogenic —
RS1769761816 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1769762719 Health Risk Pathogenic —
RS1769845495 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1769876019 Health Risk Pathogenic —
RS183261547 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS2127665867 Health Risk Pathogenic —
RS2127666004 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS2127666049 Health Risk Pathogenic —
RS2127666072 Health Risk Pathogenic —
RS2127666093 Health Risk Pathogenic —
RS2127667021 Health Risk Pathogenic —
RS2127667058 Health Risk Pathogenic —
RS2127669254 Health Risk Pathogenic —
RS2127679847 Health Risk Pathogenic —
RS2127680039 Health Risk Pathogenic —
RS2127680192 Health Risk Pathogenic —
RS2127680222 Health Risk Pathogenic —
RS2127680289 Health Risk Pathogenic —
RS2127682999 Health Risk Pathogenic —
RS2524068789 Health Risk Pathogenic —
RS2533367760 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS2533368368 Health Risk Pathogenic —
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