| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Identification of novel mutations in five patients with mitochondrial encephalomyopathy. | 18977334 | 2009 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? | 19718780 | 2009 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. | 14967777 | 2004 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene. | 15111688 | 2004 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA. | 12398839 | 2002 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy. | 9361028 | 1997 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. | 8923013 | 1996 |
|||
|
T | 0.700 | CausalMutation | CLINVAR |