ClinVar Miner

List of variants studied for childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (14):

Autism spectrum disorder; Epilepsy with myoclonic atonic seizures
Developmental and epileptic encephalopathy 94
Developmental and epileptic encephalopathy, 31A
Developmental and epileptic encephalopathy, 31A; Developmental and epileptic encephalopathy, 31B
Developmental and epileptic encephalopathy, 43
Epilepsy with myoclonic atonic seizures
Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy, 43
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Idiopathic hemiconvulsion-hemiplegia syndrome
Intellectual disability, autosomal dominant 6; West syndrome; Lennox-Gastaut syndrome; GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Intellectual disability; Benign neonatal seizures; Lennox-Gastaut syndrome
Lennox-Gastaut syndrome
Macrocephaly and epileptic encephalopathy
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 1; Autism spectrum disorder; SCN2A-related generalized epilepsy with febrile seizures plus; West syndrome; Epilepsy with myoclonic atonic seizures; Non-syndromic intellectual disability; Lennox-Gastaut syndrome; Continuous spikes and waves during sleep
West syndrome; Lennox-Gastaut syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001271.4(CHD2):c.1628C>A (p.Ser543Tyr)
NM_001271.4(CHD2):c.2080G>T (p.Glu694Ter)
NM_001271.4(CHD2):c.2165C>A (p.Ser722Ter)
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val)	rs1555442813
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp)	rs1596443241
NM_001271.4(CHD2):c.3735-1G>A
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter)	rs398122998
NM_003042.4(SLC6A1):c.1427-9A>G	rs1698019472
NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr)	rs1391625316
NM_004408.4(DNM1):c.718_720del (p.Lys240del)

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