| | LOC130000015, LOC130000016 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121192, LOC110121196 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +3656 more | Copy number gain | See cases | |
| | GPAT4, GPAT4-AS1 +3106 more | Copy number gain | See cases | |
| | LOC130000405, LOC130000406 +489 more | Copy number gain | See cases | |
| | LOC130000897, LOC130000898 +1960 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC116186930, LOC116186931 +175 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | CHD7, LOC130000460 +5 more | Copy number loss | See cases | |
| | LOC130000495, LOC130000496 +150 more | Copy number gain | See cases | |
| | | Microsatellite (5 prime UTR variant) | CHARGE association +1 more | |
| | | Microsatellite (5 prime UTR variant) | CHARGE association +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Deletion (5 prime UTR variant) | CHARGE association +1 more | |
| | | Insertion (5 prime UTR variant) | Hypogonadism with anosmia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Microsatellite (5 prime UTR variant) | CHARGE association +1 more | |
| | | Indel (5 prime UTR variant) | Hypogonadism with anosmia +1 more | |
| | | Indel (5 prime UTR variant) | CHARGE association +1 more | |
| | | Indel (5 prime UTR variant) | CHARGE association +1 more | |
| | | Indel (5 prime UTR variant) | Hypogonadism with anosmia +1 more | |
| | | Indel (5 prime UTR variant) | Hypogonadism with anosmia +1 more | |
| | | Indel (5 prime UTR variant) | Hypogonadism with anosmia +1 more | |
| | | Indel (5 prime UTR variant) | CHARGE association +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | CHD7, LOC126860403 +3 more | Deletion | CHARGE association | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Single nucleotide variant (synonymous variant) | CHARGE association | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 5 with or without anosmia | |
| | | Single nucleotide variant (missense variant) | CHARGE association | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | CHARGE association | |
| | | Single nucleotide variant (synonymous variant) | CHARGE association | |
| | | Single nucleotide variant (synonymous variant) | CHARGE association +1 more | |
| | | Single nucleotide variant (missense variant) | CHARGE association | |
| | | Single nucleotide variant (synonymous variant) | CHARGE association | |
| | | Single nucleotide variant (synonymous variant) | CHARGE association | |
| | | Single nucleotide variant (missense variant) | CHARGE association | |
| | | Single nucleotide variant (synonymous variant) | CHARGE association | |
| | | Single nucleotide variant (missense variant) | CHARGE association | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | CHARGE association | |
| | | Single nucleotide variant (missense variant) | CHARGE association | |
| | | Single nucleotide variant (synonymous variant) | CHARGE association | |
| | | Single nucleotide variant (synonymous variant) | CHARGE association +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | CHARGE association | |
| | | Single nucleotide variant (missense variant) | CHARGE association | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | CHD7-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | CHARGE association | |
| | | Single nucleotide variant (missense variant) | CHD7-related condition +2 more | |
| | | Single nucleotide variant (synonymous variant) | CHARGE association | |
| | | Single nucleotide variant (missense variant) | CHARGE association | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CHARGE association +1 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | CHARGE association | |
| | | Single nucleotide variant (missense variant) | CHD7-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CHARGE association | |
| | | Single nucleotide variant (synonymous variant) | CHARGE association | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | CHARGE association | |
| | | Single nucleotide variant (missense variant) | CHARGE association | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CHARGE association | |
| | | Single nucleotide variant (missense variant) | CHARGE association | |
| | | Single nucleotide variant (synonymous variant) | CHD7-related condition | |
| | | Single nucleotide variant (synonymous variant) | CHARGE association | |
| | | Single nucleotide variant (synonymous variant) | CHARGE association | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Microsatellite (frameshift variant) | CHARGE association | |
| | | Single nucleotide variant (synonymous variant) | CHARGE association | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | CHARGE association | |
| | | Single nucleotide variant (missense variant) | CHARGE association +1 more | |
| | | Single nucleotide variant (missense variant) | CHARGE association | |