| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. | 27541164 | 2016 |
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|
0.800 | GeneticVariation | UNIPROT | Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. | 23526554 | 2013 |
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|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. | 28292732 | 2017 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. | 28428906 | 2017 |
|||
|
0.700 | GeneticVariation | UNIPROT | Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. | 27541164 | 2016 |
||||
|
0.700 | GeneticVariation | UNIPROT | Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. | 27541164 | 2016 |
||||
|
A | 0.700 | GeneticVariation | CLINVAR | Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. | 25769375 | 2015 |
|||
|
0.700 | GeneticVariation | UNIPROT | Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. | 23526554 | 2013 |
||||
|
0.700 | GeneticVariation | UNIPROT | Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. | 23526554 | 2013 |
||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR |