| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | GeneticVariation | CLINVAR | Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. | 27933661 | 2017 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Mutation update: the spectra of nebulin variants and associated myopathies. | 25205138 | 2014 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. | 21724397 | 2011 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Core-rod myopathy caused by mutations in the nebulin gene. | 19805734 | 2009 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Distal myopathy caused by homozygous missense mutations in the nebulin gene. | 17525139 | 2007 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. | 16917880 | 2006 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. | 15336686 | 2004 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts. | 15266303 | 2004 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. | 15221447 | 2004 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Mutations in the nebulin gene can cause severe congenital nemaline myopathy. | 12207937 | 2002 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. | 10051637 | 1999 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2. | 2838409 | 1988 |