| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Progressive distal muscle weakness +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pelvic girdle muscle weakness +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth Neuropathy X +9 more | GConflicting classifications of pathogenicity |
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