| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Abnormality of the musculature +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
Click to view in NCBI Gene