| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type R18 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type R18 +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type R18 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Deletion (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type R18 +1 more | GConflicting classifications of pathogenicity |
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