Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | TFAP2A mutations result in branchio-oculo-facial syndrome. | 18423521 | 2008 | |||||||
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A | 0.710 | CausalMutation | CLINVAR | |||||||||
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|
|
0.710 | GeneticVariation | BEFREE | We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated in branchio-oculo-facial (BOF) syndrome. | 22276601 | 2012 | |||||||
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|
A | 0.700 | GeneticVariation | CLINVAR | Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. | 19764023 | 2009 | ||||||
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|
C | 0.700 | CausalMutation | CLINVAR | A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. | 25590586 | 2015 | ||||||
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|
A | 0.700 | GeneticVariation | CLINVAR | Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain. | 23578821 | 2013 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain. | 23578821 | 2013 | ||||||
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|
|
C | 0.700 | CausalMutation | CLINVAR | A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. | 25590586 | 2015 | ||||||
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|
|
A | 0.700 | GeneticVariation | CLINVAR | Further delineation of the branchio-oculo-facial syndrome. | 7747785 | 1995 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Genotype-phenotype analysis of the branchio-oculo-facial syndrome. | 21204207 | 2011 | ||||||
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|
|
C | 0.700 | CausalMutation | CLINVAR | A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. | 25590586 | 2015 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. | 25590586 | 2015 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. | 25590586 | 2015 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. | 25590586 | 2015 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. | 25590586 | 2015 | ||||||
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|
|
A | 0.700 | GeneticVariation | CLINVAR | Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome. | 20358615 | 2010 | ||||||
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|
|
A | 0.700 | GeneticVariation | CLINVAR | Genotype-phenotype analysis of the branchio-oculo-facial syndrome. | 21204207 | 2011 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | Further delineation of the branchio-oculo-facial syndrome. | 7747785 | 1995 | ||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. | 25590586 | 2015 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR |