ClinVar Miner

List of variants reported as benign for West syndrome by Mendelics

Included ClinVar conditions (23):

Angelman syndrome; Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 1
Developmental and epileptic encephalopathy, 12
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, 5
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 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; Myoclonic-astatic epilepsy; Non-syndromic intellectual disability; Lennox-Gastaut syndrome; Continuous spikes and waves during sleep
West 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_173354.5(SIK1):c.1844C>T (p.Ala615Val)	rs430554	0.85362
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)	rs77358650	0.00127
NM_000330.4(RS1):c.185-3176C>T	rs747799506	0.00001
NM_001323289.2(CDKL5):c.1767C>T (p.His589=)	rs267608645	0.00001
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr)	rs11545029
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)	rs387906492

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