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
RS1000152328 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1006465697 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Autism spectrum disorder, Developmental and epileptic encephalopathy 94
RS1008040869 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1024223144 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1034945378 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1057522158 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1060503519 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1064794438 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1064795301 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1158357314 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1230076038 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1240488615 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS1259027522 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS1264879568 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1270315601 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS1273588349 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1342167975 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1359060187 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS1368222485 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS139646715 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, CHD2-related disorder
RS140365508 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS1410645881 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, CHD2-related disorder, Inborn genetic diseases
RS1429234959 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS143043614 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, CHD2-related disorder
RS144667627 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1459840646 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1461476360 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS146275216 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Intellectual disability, Inborn genetic diseases
RS146319346 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1474100681 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1486555733 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1487229845 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1555442813 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS1567141162 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1567152270 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS186163798 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS200013427 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS201628571 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS2053935622 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2054197477 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2054200789 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141814810 Health Risk Conflicting classifications of pathogenicity —
RS2141844210 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141844278 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141881607 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505576939 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Developmental and epileptic encephalopathy 94, Autism spectrum disorder
RS2505580525 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505589793 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505590886 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505617552 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
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