CLN5 Chromosome 13

CLN5 lysosomal BMP synthase
157 variants 157 Health Risk

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What This Gene Does
This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008]
Associated Conditions (6)
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis
Inborn genetic diseases
Pontocerebellar hypoplasia type 2D
CLN5-related disorder
Abnormality of metabolism/homeostasis
Key Variants
RS104894386
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
Health Risk
RS1268502139
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
Health Risk
RS1329255995
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
Health Risk
RS138611001
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
Health Risk
RS1409904698
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
Health Risk
RS146993892
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Inborn genetic diseases
Health Risk
RS148544801
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
Health Risk
RS148862100
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
Health Risk
RS1593910113
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2D, Neuronal ceroid lipofuscinosis 5, Pontocerebellar hypoplasia type 2D
Health Risk
RS199727787
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
Health Risk
RS200637649
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Inborn genetic diseases
Health Risk
RS201464545
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Inborn genetic diseases
Health Risk
All Variants (157)
RSID Category Clinical Significance Conditions
RS104894386 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS1268502139 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS1329255995 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS138611001 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS1409904698 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS146993892 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Inborn genetic diseases
RS148544801 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS148862100 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS1593910113 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2D, Neuronal ceroid lipofuscinosis 5, Pontocerebellar hypoplasia type 2D
RS199727787 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS200637649 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Inborn genetic diseases
RS201464545 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Inborn genetic diseases
RS201615354 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS2034192763 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS2154034738 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS28940280 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS369100769 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Inborn genetic diseases
RS376454715 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Inborn genetic diseases
RS386833977 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS529998879 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Inborn genetic diseases
RS587780896 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS61504484 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS745312608 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
RS751496223 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Inborn genetic diseases
RS753732321 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS762873839 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Inborn genetic diseases
RS765323914 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS769007858 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, CLN5-related disorder, Neuronal ceroid lipofuscinosis
RS770149235 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS772316134 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS772501269 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS778982551 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Inborn genetic diseases
RS786205211 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS794727507 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS796052345 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS1057516390 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS1057516814 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1304421147 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1309552809 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1555273567 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1555273609 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1555273882 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1555274014 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1555274337 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1555274387 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1593914689 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1739482158 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS2034241585 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS2034257020 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2154034211 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
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