CLN5 Chromosome 13
CLN5 lysosomal BMP synthase
Upload your DNA to see your personal genotypes for variants in CLN5.
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 |
|---|---|---|---|
| RS2154035202 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS2501124074 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS2501124491 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS2501124958 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS2501135864 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS2501136073 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS2501136089 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2501139084 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS2501139315 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS2501139368 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS2501139693 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS2501140321 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS2501140694 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS2501154781 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS2501155185 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS2501157687 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS267606738 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5 |
| RS386833963 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS386833965 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS386833973 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS386833974 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS386833978 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS755238050 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS762787810 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS763980789 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS780198002 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS794729218 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS104894385 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5 |
| RS1057517134 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5 |
| RS121908292 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5 |
| RS1242337070 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS1271064370 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1290682648 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1555273604 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1555273992 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5 |
| RS1555274312 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS1555274343 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5 |
| RS1555274365 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5 |
| RS1555274369 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5 |
| RS1555274373 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5 |
| RS1566219136 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS2034190303 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5 |
| RS2034346369 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2034349431 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5 |
| RS2034350473 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2154034292 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2154034622 | Health Risk | Pathogenic | Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis |
| RS2154034636 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2154034716 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS2154035107 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |