| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | CHARGE syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Retinal coloboma +4 more | |
| | CHD7, LOC126860403 (S559L) | Single nucleotide variant (missense variant) | CHARGE syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Atrial septal defect +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +1 more | |
| | | Deletion (frameshift variant +1 more) | CHARGE syndrome | |
| | | Single nucleotide variant (intron variant) | CHARGE syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Dolichocephaly +5 more | |
| | | Single nucleotide variant (missense variant) | CHARGE syndrome | |
| | | Single nucleotide variant (missense variant) | CHARGE syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
Click to view in NCBI Gene