| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.730 | GeneticVariation | BEFREE | Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa. | 18549403 | 2008 |
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|
0.730 | GeneticVariation | BEFREE | In conclusion, the ARCMT2 associated with the R298C mutation differs from other types of ARCMT2. | 14607793 | 2004 |
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|
0.730 | GeneticVariation | BEFREE | In this study we report the phenotype of autosomal recessive axonal Charcot-Marie-Tooth type 2 due to a recently-described mutation (c.892C>T-p.R298C) in a gene encoding Lamin A/C nuclear envelope proteins and the first gene in which a mutation leads to autosomal recessive Charcot-Marie-Tooth type 2. | 12467734 | 2003 |
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|
T | 0.730 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. | 25025039 | 2014 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. | 18478590 | 2008 |
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|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.020 | GeneticVariation | BEFREE | Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa. | 18549403 | 2008 |
||||
|
0.020 | GeneticVariation | BEFREE | In this study we report the phenotype of autosomal recessive axonal Charcot-Marie-Tooth type 2 due to a recently-described mutation (c.892C>T-p.R298C) in a gene encoding Lamin A/C nuclear envelope proteins and the first gene in which a mutation leads to autosomal recessive Charcot-Marie-Tooth type 2. | 12467734 | 2003 |