Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Myopathy with abnormal lipid metabolism | |
| | | Single nucleotide variant (missense variant) | Myopathy with abnormal lipid metabolism +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy with abnormal lipid metabolism +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Myopathy with abnormal lipid metabolism | |
| | | Single nucleotide variant (nonsense) | Myopathy with abnormal lipid metabolism +2 more | |
| | | Single nucleotide variant (synonymous variant) | Myopathy with abnormal lipid metabolism +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Microsatellite (frameshift variant) | Myopathy with abnormal lipid metabolism +1 more | |
| | | Indel (frameshift variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Deletion (frameshift variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Multiple acyl-CoA dehydrogenase deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Multiple acyl-CoA dehydrogenase deficiency | |
| | | Deletion (inframe_deletion) | Multiple acyl-CoA dehydrogenase deficiency | |
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