| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | CHD7-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | CHD7-related disorder +4 more | |
| | | Single nucleotide variant (nonsense) | CHARGE syndrome +1 more | |
Click to view in NCBI Gene