ClinVar Miner

List of variants reported as pathogenic for childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy by Mendelics

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001271.4(CHD2):c.3187G>T (p.Glu1063Ter)	rs1596436494
NM_001271.4(CHD2):c.3214C>T (p.Arg1072Ter)	rs767106034
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs)	rs752940775
NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer)	rs748694853
NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys)	rs2124908722
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs)	rs1553688970

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