| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | CHARGE association +2 more | GConflicting classifications of pathogenicity |
| | CHD7, LOC126860403 (P561T) | Single nucleotide variant (missense variant) | CHARGE association +2 more | |
| | | Single nucleotide variant (synonymous variant) | CHARGE association +1 more | |
| | CHD7, LOC126860403 (D569E) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | CHD7, LOC126860403 (P576L) | Single nucleotide variant (intron variant +1 more) | CHARGE association +2 more | GConflicting classifications of pathogenicity |
| | CHD7, LOC126860403 (I590V) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion +1 more) | CHARGE association +1 more | |
| | CHD7, LOC126860403 (P656L) | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | CHD7, LOC126860403 (K666R) | Single nucleotide variant (missense variant +1 more) | CHARGE association +2 more | GConflicting classifications of pathogenicity |
| | CHD7, LOC126860403 (K691E) | Single nucleotide variant (missense variant +1 more) | CHARGE association +1 more | |
| | CHD7, LOC126860403 (K691Q) | Single nucleotide variant (intron variant +1 more) | not provided +2 more | |