| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | GeneticVariation | CLINVAR | Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. | 28679633 | 2017 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. | 28798025 | 2017 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. | 28679633 | 2017 |
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|
G | 0.700 | GeneticVariation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories. | 24915601 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation. | 19446900 | 2009 |
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|
G | 0.700 | GeneticVariation | CLINVAR | A novel mutation in a large French-Canadian family with LGMD1B. | 18714801 | 2008 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Phenotypic clustering of lamin A/C mutations in neuromuscular patients. | 17377071 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | [Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]. | 15678000 | 2005 |
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|
G | 0.700 | GeneticVariation | CLINVAR | An alternative splicing product of the lamin A/C gene lacks exon 10. | 8621584 | 1996 |