ClinVar Miner

List of variants studied for infantile spasms by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Included ClinVar conditions (18):

Developmental and epileptic encephalopathy, 15
Developmental and epileptic encephalopathy, 1; Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 27
Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
Developmental and epileptic encephalopathy, 40
Developmental and epileptic encephalopathy, 4; West syndrome; Cerebellar vermis hypoplasia
Developmental and epileptic encephalopathy, 5
Developmental and epileptic encephalopathy, 5; Neuronopathy, distal hereditary motor, autosomal dominant 11; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia; Developmental delay with or without epilepsy
Infantile spasms
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27
Intellectual disability, autosomal dominant 6; West syndrome; Lennox-Gastaut syndrome; GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Intellectual disability, autosomal recessive 12; Developmental and epileptic encephalopathy, 15
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
West syndrome; Early infantile epileptic encephalopathy with suppression bursts
West syndrome; Lennox-Gastaut syndrome
West syndrome; Tubulinopathy-associated dysgyria

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

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)	rs267608493
NM_001323289.2(CDKL5):c.655C>T (p.Gln219Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.