Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (missense variant) | Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies | |
| | | Single nucleotide variant (nonsense) | Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Duplication (frameshift variant) | Autosomal dominant centronuclear myopathy +1 more | |
Click to view in NCBI Gene