ClinVar Miner

List of variants studied for infancy electroclinical syndrome by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Included ClinVar conditions (46):

Angelman syndrome; Developmental and epileptic encephalopathy, 2
Autism; Seizures, benign familial infantile, 3; Episodic ataxia, type 9; Developmental and epileptic encephalopathy, 76
Benign familial infantile epilepsy
Benign familial neonatal-infantile seizures 1; Developmental and epileptic encephalopathy, 11; Intellectual disability
Benign familial neonatal-infantile seizures 1; Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; SCN2A-related generalized epilepsy with febrile seizures plus
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2
Developmental and epileptic encephalopathy, 1
Developmental and epileptic encephalopathy, 12
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2
Developmental and epileptic encephalopathy, 15
Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24
Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1; Congenital disorder of glycosylation
Developmental and epileptic encephalopathy, 1; Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; Partington syndrome
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; X-linked lissencephaly with abnormal genitalia; Partington syndrome
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 27
Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
Developmental and epileptic encephalopathy, 30
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
Generalized epilepsy with febrile seizures plus, type 1; Developmental and epileptic encephalopathy, 1; Atrial fibrillation, familial, 1; Brugada syndrome 5
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, 2
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis
Seizures, benign familial infantile, 3
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9; Complex neurodevelopmental disorder
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 1; Autism spectrum disorder; SCN2A-related generalized epilepsy with febrile seizures plus; West syndrome; Myoclonic-astatic epilepsy; Non-syndromic intellectual disability; Lennox-Gastaut syndrome; Continuous spikes and waves during sleep
Seizures, benign familial infantile, 3; SCN2A-related generalized epilepsy with febrile seizures plus
Seizures, benign familial infantile, 5
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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000330.4(RS1):c.326+1131G>A	rs267608664	0.00004
NM_001323289.2(CDKL5):c.1486A>T (p.Lys496Ter)	rs1926283887
NM_001323289.2(CDKL5):c.178G>C (p.Glu60Gln)	rs1925262394
NM_001323289.2(CDKL5):c.1852_1853insT (p.Asp618fs)	rs1926303951
NM_001323289.2(CDKL5):c.2182del (p.His728fs)	rs1926616715
NM_001323289.2(CDKL5):c.2355_2358del (p.Lys786fs)	rs1926837956
NM_001323289.2(CDKL5):c.2673_2682del (p.Gln891fs)	rs1927142990
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro)	rs1925418549
NM_001323289.2(CDKL5):c.349dup (p.Tyr117fs)	rs1925420814
NM_001323289.2(CDKL5):c.422T>C (p.Leu141Pro)	rs1925493091
NM_001323289.2(CDKL5):c.463+1G>T	rs267608479
NM_001323289.2(CDKL5):c.495dup (p.Ala166fs)	rs1925573011
NM_001323289.2(CDKL5):c.554+1G>A	rs1555950083
NM_001323289.2(CDKL5):c.64+1G>C	rs1922607301
NM_001323289.2(CDKL5):c.65G>C (p.Gly22Ala)	rs1602232972
NM_001323289.2(CDKL5):c.744+1G>A	rs1925705674
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr)	rs1555940536
NM_139058.3(ARX):c.1589C>G (p.Ser530Cys)	rs2048669628

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