ClinVar Miner

List of variants in gene GUF1 studied for West syndrome

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
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_021927.3(GUF1):c.586-27T>A	rs58659516	0.97959
NM_021927.3(GUF1):c.1715+8C>G	rs12641137	0.97958
NM_021927.3(GUF1):c.586-28_586-27insA	rs112232487	0.97958
NM_021927.3(GUF1):c.585+27C>T	rs13117025	0.96436
NM_021927.3(GUF1):c.173T>C (p.Leu58Pro)	rs6447368	0.52633
NM_021927.3(GUF1):c.1872+23T>G	rs6851576	0.52617
NM_021927.3(GUF1):c.1934A>G (p.Lys645Arg)	rs139919081	0.00047
NM_021927.3(GUF1):c.514C>G (p.Gln172Glu)	rs116300982	0.00014
NM_021927.3(GUF1):c.1954G>A (p.Val652Ile)	rs201662175	0.00009
NM_021927.3(GUF1):c.1825G>T (p.Ala609Ser)	rs879255631	0.00001
NM_021927.3(GUF1):c.1250T>A (p.Leu417Gln)
NM_021927.3(GUF1):c.1472_1476del (p.Leu491fs)	rs747316677

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