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
RS2141778479 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141785162 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141787520 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141787589 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141787733 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141790977 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2141791104 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141802487 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141802547 Health Risk Pathogenic —
RS2141802578 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141811616 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141814886 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141816511 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141816525 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141816549 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141830701 Health Risk Pathogenic —
RS2141839141 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Intellectual disability, Developmental and epileptic encephalopathy 94
RS2141843174 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141843235 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141844219 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141844243 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141844251 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141846356 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141850583 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141851983 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141852009 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141852057 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141867280 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141867643 Health Risk Pathogenic —
RS2141873663 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141873672 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141876515 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141876542 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2141881688 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141895144 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141895289 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2272457 Health Risk Pathogenic —
RS2505310503 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505384221 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505384499 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505426416 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505432973 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2505433070 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505433092 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505443321 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505446692 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505447123 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2505447198 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505451976 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505452084 Health Risk Pathogenic —
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