CHD7 Chromosome 8
Chromodomain helicase DNA binding protein 7
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What This Gene Does
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
"Myb/SANT domain containing|Helicases|SNF2 related family"
Locus Type
gene with protein product
Location
8q12.2
Ensembl
ENSG00000171316
Associated Conditions (46)
CHARGE syndrome
Hypogonadotropic hypogonadism 5 with or without anosmia
Inborn genetic diseases
CHD7-related disorder
Uterine corpus endometrial carcinoma
Male infertility with spermatogenesis disorder
See cases
Familial atrioventricular septal defect
3MC syndrome
Amenorrhea
Childhood onset hearing loss
CHD7-related CHARGE syndrome
Cleft palate
Lung cancer
Hearing impairment
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Intellectual disability
Primary dilated cardiomyopathy
Neurodevelopmental disorder
Congenital heart disease
+26 more conditions
Key Variants
RS1001403179
Conflicting classifications of pathogenicity
CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
Health Risk
RS1012221437
Conflicting classifications of pathogenicity
CHARGE syndrome, Inborn genetic diseases, Hypogonadotropic hypogonadism 5 with or without anosmia
Health Risk
RS1020281061
Conflicting classifications of pathogenicity
CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
Health Risk
RS1024797402
Conflicting classifications of pathogenicity
CHARGE syndrome, CHARGE syndrome
Health Risk
RS1032877391
Conflicting classifications of pathogenicity
CHARGE syndrome, CHD7-related disorder, CHARGE syndrome
Health Risk
RS1046787337
Conflicting classifications of pathogenicity
CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, Inborn genetic diseases
Health Risk
RS1060503188
Conflicting classifications of pathogenicity
CHARGE syndrome, CHARGE syndrome, CHARGE syndrome
Health Risk
RS1064793083
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
Health Risk
RS1064794548
Conflicting classifications of pathogenicity
CHARGE syndrome, CHARGE syndrome
Health Risk
RS1064794649
Conflicting classifications of pathogenicity
CHARGE syndrome, CHD7-related disorder, CHARGE syndrome
Health Risk
RS1064794854
Conflicting classifications of pathogenicity
CHARGE syndrome, CHARGE syndrome
Health Risk
RS1064795809
Conflicting classifications of pathogenicity
Inborn genetic diseases, CHARGE syndrome, Inborn genetic diseases
Health Risk
All Variants (1096)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS753723769 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, Inborn genetic diseases |
| RS753913368 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Inborn genetic diseases, CHARGE syndrome |
| RS753953205 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, Amenorrhea |
| RS754527047 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHD7-related disorder |
| RS754831415 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Inborn genetic diseases, CHARGE syndrome |
| RS755028719 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Inborn genetic diseases, CHARGE syndrome |
| RS755563758 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia |
| RS755896254 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, CHD7-related disorder, CHARGE syndrome |
| RS756074454 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CHARGE syndrome, Inborn genetic diseases |
| RS756347672 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, Inborn genetic diseases |
| RS756365280 | Health Risk | Conflicting classifications of pathogenicity | Amenorrhea, Inborn genetic diseases, CHARGE syndrome |
| RS756839375 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Inborn genetic diseases, CHARGE syndrome |
| RS757160222 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome |
| RS757280832 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, Inborn genetic diseases |
| RS757629380 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, Inborn genetic diseases |
| RS757689264 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, CHD7-related disorder, CHARGE syndrome |
| RS757868659 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, Inborn genetic diseases |
| RS758131874 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, CHARGE syndrome |
| RS758228667 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Inborn genetic diseases, CHARGE syndrome |
| RS758409717 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome |
| RS758410916 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome |
| RS759229667 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome |
| RS759347960 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia |
| RS759567393 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Inborn genetic diseases, Hypogonadotropic hypogonadism 5 with or without anosmia |
| RS759815314 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, CHARGE syndrome |
| RS759887905 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CHD7-related disorder, CHARGE syndrome |
| RS759918327 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome |
| RS759929302 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome |
| RS760775347 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia |
| RS761214775 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia |
| RS761253760 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome |
| RS761409446 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia |
| RS761410781 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, Inborn genetic diseases |
| RS761748737 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, CHD7-related disorder, Inborn genetic diseases |
| RS762290343 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Inborn genetic diseases, CHARGE syndrome |
| RS762399977 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, CHD7-related disorder, CHARGE syndrome |
| RS762669262 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Inborn genetic diseases, Hypogonadotropic hypogonadism 5 with or without anosmia |
| RS762891322 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Inborn genetic diseases, CHARGE syndrome |
| RS762953167 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Inborn genetic diseases, CHARGE syndrome |
| RS763250461 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome |
| RS763289725 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, CHARGE syndrome |
| RS763555514 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome |
| RS764496155 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Inborn genetic diseases, Hypogonadotropic hypogonadism 5 with or without anosmia |
| RS764518030 | Health Risk | Conflicting classifications of pathogenicity | CHD7-related disorder, CHARGE syndrome, CHD7-related disorder |
| RS764607908 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome |
| RS764675280 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Inborn genetic diseases, Hypogonadotropic hypogonadism 5 with or without anosmia |
| RS764723539 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia |
| RS764847747 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome |
| RS764957919 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, Inborn genetic diseases |
| RS765180149 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome |