| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Clinical exome sequencing for genetic identification of rare Mendelian disorders. | 25326637 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. | 23374165 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. | 19807737 | 2010 |
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|
T | 0.700 | CausalMutation | CLINVAR | Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. | 15024724 | 2004 |
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|
G | 0.700 | CausalMutation | CLINVAR | Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. | 15160397 | 2004 |
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|
G | 0.700 | CausalMutation | CLINVAR | The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. | 10861296 | 2000 |
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|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR |