| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. | 27854360 | 2017 |
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|
0.800 | GeneticVariation | UNIPROT | ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. | 25356965 | 2015 |
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|
0.800 | GeneticVariation | UNIPROT | Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation. | 23594557 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | 23788249 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). | 21267010 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. | 12707239 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. | 12021217 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. | 8673105 | 1996 |
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|
C | 0.800 | CausalMutation | CLINVAR |