ClinVar Miner

List of variants studied for West syndrome by 3billion

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000834.5(GRIN2B):c.1237G>C (p.Glu413Gln)	rs1555112356
NM_000834.5(GRIN2B):c.1927C>A (p.Leu643Met)
NM_000834.5(GRIN2B):c.1946A>G (p.Asn649Ser)	rs879253945
NM_000834.5(GRIN2B):c.1963A>G (p.Ile655Val)	rs1949320223
NM_000834.5(GRIN2B):c.2198C>A (p.Ala733Glu)
NM_001130438.3(SPTAN1):c.5044G>A (p.Val1682Met)	rs2131703648
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)	rs267608643
NM_001323289.2(CDKL5):c.170_177del (p.Thr57fs)
NM_001323289.2(CDKL5):c.236T>C (p.Phe79Ser)	rs2147139630
NM_001323289.2(CDKL5):c.350dup (p.Tyr117Ter)
NM_001323289.2(CDKL5):c.46C>G (p.Leu16Val)
NM_001323289.2(CDKL5):c.507dup (p.Glu170fs)
NM_001323289.2(CDKL5):c.599T>A (p.Ile200Asn)	rs2147148013
NM_001323289.2(CDKL5):c.656A>G (p.Gln219Arg)
NM_139058.3(ARX):c.1073G>A (p.Arg358Lys)	rs2147323521
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)	rs387906492

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