Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. | 28424332 | 2017 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. | 23326386 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. | 23326386 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. | 22323514 | 2012 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. | 22323514 | 2012 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. | 18330676 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. | 18330676 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Molecular heterogeneity in fetal forms of type II lissencephaly. | 17559086 | 2007 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Molecular heterogeneity in fetal forms of type II lissencephaly. | 17559086 | 2007 |