| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | CHARGE syndrome +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | CHARGE syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | CHARGE syndrome | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant +1 more) | CHARGE syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +1 more | |
| | | Microsatellite (frameshift variant +1 more) | CHD7-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | CHARGE syndrome +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | CHARGE syndrome | |
| | | Single nucleotide variant (intron variant) | CHD7-related disorder +4 more | |
| | | Deletion (frameshift variant +1 more) | CHARGE syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Microsatellite (frameshift variant) | CHARGE syndrome | |
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