| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray. | 26884814 | 2016 |
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|
G | 0.700 | CausalMutation | CLINVAR | Practical guidelines for managing adults with 22q11.2 deletion syndrome. | 25569435 | 2015 |
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|
G | 0.700 | CausalMutation | CLINVAR | 22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening. | 27617111 | 2015 |
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|
G | 0.700 | CausalMutation | CLINVAR | 22q11 deletion syndrome: current perspective. | 26056486 | 2015 |
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|
G | 0.700 | CausalMutation | CLINVAR | Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion. | 24998776 | 2014 |
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|
G | 0.700 | CausalMutation | CLINVAR | Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome. | 23996541 | 2013 |
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|
G | 0.700 | CausalMutation | CLINVAR | Velo-cardio-facial syndrome: 30 Years of study. | 18636631 | 2008 |
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|
G | 0.700 | CausalMutation | CLINVAR | Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. | 17273972 | 2007 |
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|
G | 0.700 | CausalMutation | CLINVAR | Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. | 11748311 | 2001 |
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|
G | 0.700 | CausalMutation | CLINVAR | A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. | 1349199 | 1992 |