CHD2 Chromosome 15

Chromodomain helicase DNA binding protein 2
385 variants 385 Health Risk

Upload your DNA to see your personal genotypes for variants in CHD2.

What This Gene Does
The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Helicases|SNF2 related family|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000173575
Associated Conditions (19)
Developmental and epileptic encephalopathy 94
Autism spectrum disorder
Inborn genetic diseases
CHD2-related disorder
Neurodevelopmental disorder
Intellectual disability
Self-limited epilepsy with centrotemporal spikes
Complex neurodevelopmental disorder
Seizure
Thyroid cancer
nonmedullary
1
Neurodevelopmental delay
Sifrim-Hitz-Weiss syndrome
Epilepsy with myoclonic atonic seizures
Epilepsy
Lennox-Gastaut syndrome
Autistic behavior
History of neurodevelopmental disorder
Key Variants
RS1000152328
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1006465697
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Autism spectrum disorder, Developmental and epileptic encephalopathy 94
Health Risk
RS1008040869
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1024223144
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1034945378
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1057522158
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1060503519
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1064794438
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1064795301
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1158357314
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1230076038
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1240488615
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
Health Risk
All Variants (385)
RSID Category Clinical Significance Conditions
RS146691368 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1488871836 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1555437424 Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS1555439557 Health Risk Pathogenic —
RS1555439714 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1555439719 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1555440885 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1555442886 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1555442889 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1555444702 Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1555445685 Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy 94, CHD2-related disorder
RS1555445693 Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS1567133726 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1567135138 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1567136357 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1567138270 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1567138301 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1567149938 Health Risk Pathogenic —
RS1567149943 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1567159145 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1567163701 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1596427956 Health Risk Pathogenic —
RS1596436494 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1596447013 Health Risk Pathogenic —
RS1596447015 Health Risk Pathogenic —
RS2053325154 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2053326002 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2053387971 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2053406905 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2053407118 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2053407255 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2053431103 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2053579191 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2053606835 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2053619207 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2053619257 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2053851553 Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS2053935397 Health Risk Pathogenic —
RS2053970405 Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS2054015565 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2054119238 Health Risk Pathogenic —
RS2054139802 Health Risk Pathogenic —
RS2054200651 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2054212444 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2054297318 Health Risk Pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS2054437773 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2054514265 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2054514589 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141746246 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141755356 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
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