| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa simplex with nail dystrophy +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex with nail dystrophy +6 more | |
| | | Microsatellite (inframe_deletion) | Autosomal recessive limb-girdle muscular dystrophy type 2Q +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion +2 more) | Abnormality of the musculature | |
Click to view in NCBI Gene