ClinVar Miner

List of variants studied for West syndrome by Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan

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
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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_003359.4(UGDH):c.131C>T (p.Ala44Val)	rs749975104	0.00004
NM_001182.5(ALDH7A1):c.1111C>T (p.Pro371Ser)	rs1045606047	0.00001
GRCh38/hg38 16q23.1(chr16:78064581-78164300)x1
GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)	rs786205598
NM_001182.5(ALDH7A1):c.1480G>C (p.Gly494Arg)
NM_001184880.2(PCDH19):c.1151T>G (p.Val384Gly)
NM_001323289.2(CDKL5):c.404-1G>C
NM_001323289.2(CDKL5):c.415G>A (p.Glu139Lys)
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln)	rs267606715
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.4399T>G (p.Phe1467Val)
NM_006516.4(SLC2A1):c.197_198delinsAA (p.Ser66Ter)
NM_007327.4(GRIN1):c.1927A>G (p.Ile643Val)	rs1554770243
NM_016373.4(WWOX):c.107+1G>A	rs1300924648
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)	rs387906492
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)	rs727503974

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