Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | GeneticVariation | CLINVAR | Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. | 30690204 | 2020 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. | 30690204 | 2020 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Comprehensive genomic analysis of patients with disorders of cerebral cortical development. | 29706646 | 2018 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Comprehensive genomic analysis of patients with disorders of cerebral cortical development. | 29706646 | 2018 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Comprehensive genomic analysis of patients with disorders of cerebral cortical development. | 29706646 | 2018 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Comprehensive genomic analysis of patients with disorders of cerebral cortical development. | 29706646 | 2018 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Comprehensive genomic analysis of patients with disorders of cerebral cortical development. | 29706646 | 2018 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Comprehensive genomic analysis of patients with disorders of cerebral cortical development. | 29706646 | 2018 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Comprehensive genomic analysis of patients with disorders of cerebral cortical development. | 29706646 | 2018 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Comprehensive genomic analysis of patients with disorders of cerebral cortical development. | 29706646 | 2018 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. | 27159400 | 2016 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Mosaic parental germline mutations causing recurrent forms of malformations of cortical development. | 26395554 | 2016 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
TG | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR |