Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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|
A | 0.780 | CausalMutation | CLINVAR | ||||||||||
|
|
G | 0.710 | CausalMutation | CLINVAR | On the other hand, affected subjects from three FPLD pedigrees with heterozygous R28W, R60G and R62G LMNA mutations in the amino-terminal had associated cardiomyopathy presenting as premature onset of congestive heart failure, dilated cardiomyopathy and conduction system disturbances. | 20041886 | 2010 |
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|
|
G | 0.710 | CausalMutation | CLINVAR | Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. | 12015247 | 2002 |
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|
|
G | 0.710 | CausalMutation | CLINVAR | Post-mortem findings in familial partial lipodystrophy, Dunnigan variety. | 12647844 | 2002 |
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|
|
G | 0.710 | CausalMutation | CLINVAR | A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. | 26008905 | 2015 |
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|
|
A | 0.700 | GeneticVariation | CLINVAR | Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. | 23103869 | 2012 |
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
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T | 0.700 | GeneticVariation | CLINVAR | Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. | 27640307 | 2016 |
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|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. | 27799064 | 2016 |
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. | 27435932 | 2016 |
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|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
C | 0.700 | CausalMutation | CLINVAR |