Links from PubMed
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Myofibrillar myopathy 2 | |
| | | Deletion (inframe_deletion +1 more) | Abortive cerebellar ataxia +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +10 more | GConflicting classifications of pathogenicity |
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