| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
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