| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. | 26306646 | 2016 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. | 26306646 | 2016 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome. | 26293599 | 2015 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. | 26424144 | 2015 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. | 26424144 | 2015 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome. | 26293599 | 2015 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. | 22544363 | 2012 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. | 22544367 | 2012 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. | 22544367 | 2012 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. | 22544363 | 2012 |