| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity. | 28588275 | 2017 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Pierpont syndrome: report of a new patient. | 28562391 | 2017 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. | 28687524 | 2017 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain. | 26740553 | 2016 |
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|
A | 0.700 | GeneticVariation | CLINVAR | A specific mutation in TBL1XR1 causes Pierpont syndrome. | 26769062 | 2016 |
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|
A | 0.700 | GeneticVariation | CLINVAR | High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. | 26482601 | 2016 |
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|
A | 0.700 | GeneticVariation | CLINVAR | A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion. | 25425123 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. | 25102098 | 2014 |
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|
A | 0.700 | GeneticVariation | CLINVAR | De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability. | 24891185 | 2014 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. | 22495309 | 2012 |