| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | CHARGE association +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CHARGE association +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Duplication | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | CHARGE association +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | CHD7-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | CHARGE association +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | CHARGE association +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hypogonadotropic hypogonadism 5 with or without anosmia +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |