| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.800 | CausalMutation | CLINVAR | Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. | 28346496 | 2017 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. | 28346496 | 2017 |
|||
|
C | 0.800 | CausalMutation | CLINVAR | West syndrome in a patient with Schinzel-Giedion syndrome. | 25028416 | 2015 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective. | 25852444 | 2015 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. | 25663181 | 2015 |
|||
|
0.800 | GeneticVariation | UNIPROT | De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. | 20436468 | 2010 |
||||
|
C | 0.800 | CausalMutation | CLINVAR | De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. | 20436468 | 2010 |
|||
|
0.800 | GeneticVariation | UNIPROT | De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. | 20436468 | 2010 |
||||
|
0.800 | GeneticVariation | UNIPROT | De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. | 20436468 | 2010 |
||||
|
0.800 | GeneticVariation | UNIPROT | De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. | 20436468 | 2010 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. | 20436468 | 2010 |
|||
|
0.800 | GeneticVariation | UNIPROT | De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. | 20436468 | 2010 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |