CLN6 Chromosome 15
CLN6 transmembrane ER protein
Upload your DNA to see your personal genotypes for variants in CLN6.
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 (15)
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis
neuronal
6B (Kufs type)
6A
Inborn genetic diseases
Adult neuronal ceroid lipofuscinosis
CLN6-related disorder
Abnormal brain morphology
Neurodevelopmental disorder
Abnormality of the nervous system
Gastric cancer
Cystic fibrosis
Spastic ataxia
See cases
Key Variants
RS1012449574
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal
Health Risk
RS1048000119
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
Health Risk
RS104894484
Conflicting classifications of pathogenicity
Ceroid lipofuscinosis, neuronal, 6A
Health Risk
RS112239768
Conflicting classifications of pathogenicity
Ceroid lipofuscinosis, neuronal, 6A
Health Risk
RS1195840845
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
Health Risk
RS1227254537
Conflicting classifications of pathogenicity
Inborn genetic diseases, Ceroid lipofuscinosis, neuronal
Health Risk
RS1344658850
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal
Health Risk
RS139261571
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
Health Risk
RS140319056
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
Health Risk
RS140519790
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
Health Risk
RS143578698
Conflicting classifications of pathogenicity
Adult neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal
Health Risk
RS144507672
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
Health Risk
All Variants (153)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS796052349 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS886042533 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS886285802 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal |
| RS1057520571 | Health Risk | Likely pathogenic | — |
| RS1064796787 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal |
| RS1275614219 | Health Risk | Likely pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS1451777867 | Health Risk | Likely pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS1471253353 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1555438229 | Health Risk | Likely pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS1555438234 | Health Risk | Likely pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS1555438411 | Health Risk | Likely pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS1555438614 | Health Risk | Likely pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS1555440188 | Health Risk | Likely pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS1595816474 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1595818391 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2093204342 | Health Risk | Likely pathogenic | Adult neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal |
| RS2093204407 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2093205953 | Health Risk | Likely pathogenic | Adult neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal |
| RS2093214695 | Health Risk | Likely pathogenic | Adult neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal |
| RS2141135900 | Health Risk | Likely pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS2141135967 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2141136011 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2141137336 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2141138753 | Health Risk | Likely pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS2141141525 | Health Risk | Likely pathogenic | Abnormality of the nervous system, Abnormality of the nervous system |
| RS2141156157 | Health Risk | Likely pathogenic | Abnormality of the nervous system, Abnormality of the nervous system |
| RS2505400971 | Health Risk | Likely pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS2505401316 | Health Risk | Likely pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS2505407519 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2505409424 | Health Risk | Likely pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS2505409451 | Health Risk | Likely pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS2505409701 | Health Risk | Likely pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS747229909 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal |
| RS756522171 | Health Risk | Likely pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS758921701 | Health Risk | Likely pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS796052356 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Spastic ataxia, Ceroid lipofuscinosis |
| RS104894483 | Health Risk | Pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS104894486 | Health Risk | Pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS1215499352 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS121908079 | Health Risk | Pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS1380684360 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1381427322 | Health Risk | Pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS1381856337 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1477757203 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS150001589 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal |
| RS154774633 | Health Risk | Pathogenic | Ceroid lipofuscinosis, neuronal, 6B (Kufs type) |
| RS154774636 | Health Risk | Pathogenic | Ceroid lipofuscinosis, neuronal, 6B (Kufs type) |
| RS1555438212 | Health Risk | Pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS1555438443 | Health Risk | Pathogenic | Ceroid lipofuscinosis, neuronal, 6A |
| RS1555440206 | Health Risk | Pathogenic | Ceroid lipofuscinosis, neuronal, 6A |