| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | Abnormality of the musculature +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Abnormality of the musculature +8 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
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