| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa simplex 7, with nephropathy and deafness | |
| | | Deletion (inframe_deletion) | Epidermolysis bullosa simplex 7, with nephropathy and deafness | |
Click to view in NCBI Gene