| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy. | 27844444 | 2017 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy. | 27844444 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy. | 27844444 | 2017 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. | 25891276 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. | 26657971 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. | 25891276 | 2015 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. | 26657971 | 2015 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. | 25891276 | 2015 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. | 26657971 | 2015 |