ClinVar Miner

List of variants reported as uncertain significance for West syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln)	rs553120567	0.00027
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln)	rs201287443	0.00027
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser)	rs150241349	0.00012
NM_001130438.3(SPTAN1):c.5872G>T (p.Gly1958Cys)	rs920545433	0.00007
NM_001130438.3(SPTAN1):c.1806+4A>G	rs770046688	0.00005
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=)	rs968327265	0.00004
NM_001130438.3(SPTAN1):c.2287G>A (p.Val763Met)	rs372062686	0.00003
NM_015192.4(PLCB1):c.890G>A (p.Arg297His)	rs775904184	0.00003
NM_173354.5(SIK1):c.955C>T (p.Arg319Trp)	rs759268634	0.00003
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=)	rs746824729	0.00002
NM_000834.5(GRIN2B):c.2011-8C>G	rs774971411	0.00001
NM_000834.5(GRIN2B):c.3118G>A (p.Gly1040Ser)	rs202222002	0.00001
NM_000834.5(GRIN2B):c.3981G>A (p.Lys1327=)	rs201670483	0.00001
NM_001130438.3(SPTAN1):c.5672T>C (p.Ile1891Thr)	rs961696023	0.00001
NM_139058.3(ARX):c.229G>A (p.Ala77Thr)
NM_173354.5(SIK1):c.1538C>T (p.Ala513Val)	rs200402559

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