| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +2 more | |
| | | Microsatellite (frameshift variant) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
Click to view in NCBI Gene