Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Muscle weakness +6 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant +1 more) | not provided +8 more | GPathogenic/Likely pathogenic |
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