ClinVar Miner

List of variants reported as uncertain significance for West syndrome by New York Genome Center

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001130438.3(SPTAN1):c.1806+4A>G	rs770046688	0.00005
NM_173354.5(SIK1):c.1571C>T (p.Pro524Leu)	rs765573579	0.00004
NM_000834.5(GRIN2B):c.2627C>T (p.Ala876Val)	rs1458368988	0.00001
NM_000834.5(GRIN2B):c.3111C>A (p.Asp1037Glu)	rs754878801	0.00001
NM_001130438.3(SPTAN1):c.3667G>A (p.Glu1223Lys)	rs773140619	0.00001
NM_000834.5(GRIN2B):c.1126-3C>T	rs1555112424
NM_000834.5(GRIN2B):c.3796C>T (p.Pro1266Ser)	rs199935748
NM_000834.5(GRIN2B):c.4406G>A (p.Ser1469Asn)	rs202133231
NM_001130438.3(SPTAN1):c.7132G>A (p.Ala2378Thr)	rs767301092
NM_006279.5(ST3GAL3):c.-31+9631T>C	rs1163915476
NM_006279.5(ST3GAL3):c.1019G>A (p.Arg340His)	rs2082916829
NM_015192.4(PLCB1):c.1573A>G (p.Met525Val)	rs138851178
NM_015192.4(PLCB1):c.3635T>C (p.Phe1212Ser)	rs202009902

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