MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, C3150411
Source: CLINVAR ×
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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C | 0.800 | CausalMutation | CLINVAR | Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy. | 24002165 | 2014 |
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C | 0.800 | CausalMutation | CLINVAR | IL-20 is an arteriogenic cytokine that remodels collateral networks and improves functions of ischemic hind limbs. | 17878297 | 2007 |
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C | 0.800 | CausalMutation | CLINVAR | New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. | 17634419 | 2007 |
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A | 0.800 | CausalMutation | CLINVAR | ||||||
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A | 0.800 | CausalMutation | CLINVAR | ||||||
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T | 0.800 | CausalMutation | CLINVAR | ||||||
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T | 0.800 | CausalMutation | CLINVAR | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. | 28980384 | 2017 |
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G | 0.700 | CausalMutation | CLINVAR | Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus. | 26495167 | 2015 |
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C | 0.700 | GeneticVariation | CLINVAR | Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy. | 24002165 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. | 18752264 | 2008 |
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C | 0.700 | GeneticVariation | CLINVAR | New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. | 17634419 | 2007 |
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C | 0.700 | GeneticVariation | CLINVAR | POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. | 15894594 | 2005 |
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G | 0.700 | CausalMutation | CLINVAR | POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. | 15894594 | 2005 |
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G | 0.700 | GeneticVariation | CLINVAR | POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. | 15894594 | 2005 |
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A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
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TG | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |