| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | CHARGE association | |
| | | Deletion (frameshift variant +1 more) | CHARGE association | |
| | | Deletion (frameshift variant +1 more) | CHARGE association | |
| | | Deletion (inframe_indel +1 more) | CHARGE association | |
| | | Single nucleotide variant (nonsense) | CHARGE association | |
Click to view in NCBI Gene