| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | CHD7-related disorder +1 more | |
| | | Deletion (frameshift variant) | CHARGE syndrome | |
| | | Single nucleotide variant (nonsense) | CHARGE syndrome | |
| | | Deletion (frameshift variant +1 more) | CHARGE syndrome | |
| | | Deletion (frameshift variant +1 more) | CHARGE syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense +1 more) | CHARGE syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | CHARGE syndrome | |
| | | Duplication (frameshift variant +1 more) | CHARGE syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Duplication (frameshift variant) | CHARGE syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene