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
RS367550855 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS368486032 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS369479687 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS370160870 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Intellectual disability, Inborn genetic diseases
RS370469675 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS372257500 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS372801085 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS373051961 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS374064833 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS375173012 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS375612058 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS376498798 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS540770153 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS559187972 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS564787975 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS565686460 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS61759469 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS745396398 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS747794466 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS748470273 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS748829883 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS749147803 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS750853380 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS751507887 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS755088564 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Self-limited epilepsy with centrotemporal spikes, Inborn genetic diseases
RS755510106 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS755898320 Health Risk Conflicting classifications of pathogenicity Self-limited epilepsy with centrotemporal spikes, Developmental and epileptic encephalopathy 94, Self-limited epilepsy with centrotemporal spikes
RS757981280 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS758134774 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS759231634 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS761860129 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS762950368 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS764705223 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS766747626 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS767309501 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS771390521 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS772907727 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS773901289 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS775901148 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS776113114 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS777934535 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS780701076 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS893203290 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS909410576 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS927604763 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS967867731 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, CHD2-related disorder, Developmental and epileptic encephalopathy 94
RS1064794837 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS11074121 Health Risk Likely pathogenic —
RS1317103929 Health Risk Likely pathogenic —
RS150951454 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
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