| | | Single nucleotide variant (missense variant +1 more) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | CHD7, LOC126860403 (S633*) | Single nucleotide variant (nonsense +1 more) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Single nucleotide variant (nonsense +1 more) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Deletion (frameshift variant +1 more) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Duplication (inframe_insertion +1 more) | Hypogonadotropic hypogonadism 5 with or without anosmia +1 more | |
| | | Single nucleotide variant (missense variant) | CHARGE syndrome +1 more | GConflicting classifications of pathogenicity |
| | CHD7, LOC126860403 (G623W) | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +1 more | GConflicting classifications of pathogenicity |
| | CHD7, LOC126860403 (S583T) | Single nucleotide variant (missense variant +1 more) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Deletion | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Single nucleotide variant (missense variant) | CHARGE syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Single nucleotide variant (missense variant) | CHARGE syndrome +2 more | |
| | CHD7, LOC126860403 (P561T) | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +2 more | |
| | | Deletion | CHARGE syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hypogonadotropic hypogonadism 5 with or without anosmia +1 more | |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +1 more | |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +1 more | |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +1 more | |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +1 more | |
| | | Single nucleotide variant (intron variant) | CHARGE syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | CHARGE syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | CHARGE syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | CHARGE syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +1 more | |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | CHARGE syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +1 more | |
| | | Single nucleotide variant (synonymous variant) | CHARGE syndrome +1 more | |
| | | Indel | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | CHARGE syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | CHD7, LOC126860403 (K691E) | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | CHARGE syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CHARGE syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Hypogonadotropic hypogonadism 5 with or without anosmia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +1 more | GConflicting classifications of pathogenicity |
| | CHD7, LOC126860403 (K666R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CHARGE syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | CHARGE syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | CHARGE syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CHARGE syndrome +2 more | GConflicting classifications of pathogenicity |
| | CHD7, LOC126860403 (K691Q) | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | CHARGE syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CHARGE syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | CHARGE syndrome +1 more | |
| | CHD7, LOC126860403 (P656L) | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | CHD7, LOC126860403 (D569E) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CHARGE syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | CHARGE syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | CHD7-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | CHARGE syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | CHARGE syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | CHARGE syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hypogonadotropic hypogonadism 5 with or without anosmia +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | CHARGE syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | CHARGE syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | CHARGE syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | CHARGE syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | CHARGE syndrome +1 more | |