| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Collagen 6-related myopathy +5 more | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (splice donor variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (nonsense) | Bethlem myopathy 1A +1 more | |
| | | Duplication (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | Qualitative or quantitative defects of collagen 6 +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1A +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | COL6A2-related condition +6 more | |
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