| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Elevated circulating creatine kinase concentration | |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Elevated circulating creatine kinase concentration | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (splice acceptor variant) | not provided +2 more | GConflicting classifications of pathogenicity |
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