| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | Collagen 6-related myopathy +6 more | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Collagen 6-related myopathy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Bethlem myopathy 1A +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
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