ClinVar Miner

List of variants reported as likely benign for West syndrome by 3billion

Included ClinVar conditions (29):

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, 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, 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
West syndrome; Early infantile epileptic encephalopathy with suppression bursts
West syndrome; Lennox-Gastaut syndrome
West syndrome; Tubulinopathy-associated dysgyria

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_006279.5(ST3GAL3):c.530G>A (p.Arg177Gln)	rs780826701	0.00001
NM_001130438.3(SPTAN1):c.3414+4T>C	rs794727389
NM_001130438.3(SPTAN1):c.3781T>C (p.Tyr1261His)
NM_001130438.3(SPTAN1):c.6155A>G (p.Lys2052Arg)	rs2131953509
NM_001130438.3(SPTAN1):c.6199A>G (p.Met2067Val)
NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser)	rs1589389281
NM_001323289.2(CDKL5):c.436A>G (p.Asn146Asp)	rs2147144038
NM_006279.5(ST3GAL3):c.401A>G (p.Asn134Ser)	rs745451424

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