Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. | 23561849 | 2013 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. | 23561849 | 2013 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. | 23561849 | 2013 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | |||||||
|
0.800 | GeneticVariation | UNIPROT | Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. | 23561849 | 2013 |
||||
|
0.800 | GeneticVariation | UNIPROT | De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. | 24115232 | 2013 |
||||
|
A | 0.700 | GeneticVariation | CLINVAR | SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. | 30817854 | 2019 |
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|
C | 0.700 | GeneticVariation | CLINVAR |