Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
0.800 | GeneticVariation | UNIPROT | A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. | 12859414 | 2003 | |||||||
|
|
|
C | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. | 15057979 | 2004 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. | 15365988 | 2004 | |||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
TA | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | SSIEM 2015 Annual Symposium : Lyon, France, August 2015. | 26238931 | 2015 | ||||||
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|
|
C | 0.700 | CausalMutation | CLINVAR | Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response. | 25459972 | 2015 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency. | 10697964 | 2000 | ||||||
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|
|
C | 0.700 | CausalMutation | CLINVAR | Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest. | 17277394 | 2007 | ||||||
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|
|
C | 0.700 | CausalMutation | CLINVAR | Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. | 27066551 | 2015 | ||||||
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|
|
C | 0.700 | CausalMutation | CLINVAR | Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals. | 24088670 | 2013 | ||||||
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|
|
C | 0.700 | CausalMutation | CLINVAR | Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. | 12559850 | 2003 | ||||||
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|
|
C | 0.700 | CausalMutation | CLINVAR | Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. | 11592821 | 2001 | ||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. | 12859414 | 2003 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. | 15365988 | 2004 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. | 15057979 | 2004 | |||||||
|
|
|
TG | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR |