| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Neonatal encephalocardiomyopathy caused by mutations in VARS2. | 27502409 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | Neonatal encephalocardiomyopathy caused by mutations in VARS2. | 27502409 | 2017 |
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|
T | 0.700 | GeneticVariation | CLINVAR | New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. | 27290639 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. | 27290639 | 2016 |
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|
T | 0.700 | GeneticVariation | CLINVAR | VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. | 24827421 | 2014 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. | 25058219 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. | 24827421 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. | 25058219 | 2014 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Mitochondrial aminoacyl-tRNA synthetases in human disease. | 23433712 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mitochondrial aminoacyl-tRNA synthetases in human disease. | 23433712 | 2013 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Human diseases with impaired mitochondrial protein synthesis. | 21708121 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Human diseases with impaired mitochondrial protein synthesis. | 21708121 | 2011 |