ClinVar Miner

List of variants in gene WWOX reported as pathogenic for neonatal-onset developmental and epileptic encephalopathy

Included ClinVar conditions (45):

Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 28
Charcot-Marie-Tooth disease axonal type 2N; Developmental and epileptic encephalopathy, 29
Charcot-Marie-Tooth disease axonal type 2N; Developmental and epileptic encephalopathy, 29; Leukoencephalopathy, hereditary diffuse, with spheroids 2; Trichothiodystrophy 8, nonphotosensitive
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2
DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65
DOORS syndrome; Familial infantile myoclonic epilepsy; Developmental and epileptic encephalopathy, 16
Developmental and epileptic encephalopathy, 12
Developmental and epileptic encephalopathy, 13
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2
Developmental and epileptic encephalopathy, 16
Developmental and epileptic encephalopathy, 21
Developmental and epileptic encephalopathy, 24
Developmental and epileptic encephalopathy, 24; Generalized epilepsy with febrile seizures plus, type 10
Developmental and epileptic encephalopathy, 25
Developmental and epileptic encephalopathy, 26
Developmental and epileptic encephalopathy, 28
Developmental and epileptic encephalopathy, 29
Developmental and epileptic encephalopathy, 29; Trichothiodystrophy 8, nonphotosensitive
Developmental and epileptic encephalopathy, 31A
Developmental and epileptic encephalopathy, 31A; Developmental and epileptic encephalopathy, 31B
Developmental and epileptic encephalopathy, 32
Developmental and epileptic encephalopathy, 33
Developmental and epileptic encephalopathy, 34
Developmental and epileptic encephalopathy, 34; Epilepsy, idiopathic generalized, susceptibility to, 14
Developmental and epileptic encephalopathy, 39
Developmental and epileptic encephalopathy, 41
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 44
Developmental and epileptic encephalopathy, 44; Spinocerebellar ataxia, autosomal recessive 24
Developmental and epileptic encephalopathy, 45
Developmental and epileptic encephalopathy, 46
Developmental and epileptic encephalopathy, 47
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2; Familial hemiplegic migraine; Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42
Familial infantile myoclonic epilepsy; Developmental and epileptic encephalopathy, 16
Intellectual disability, autosomal dominant 38; Developmental and epileptic encephalopathy, 33
Malignant tumor of esophagus; Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 28
Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; DOORS syndrome; Familial infantile myoclonic epilepsy; Developmental and epileptic encephalopathy, 16
Spinocerebellar ataxia type 6; Developmental and epileptic encephalopathy, 42

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_016373.4(WWOX):c.160C>T (p.Arg54Ter)	rs587777248	0.00003
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)	rs756762196	0.00002
NM_016373.4(WWOX):c.172+1G>C	rs1377640182	0.00001
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys)	rs780345312	0.00001
GRCh37/hg19 16q23.1(chr16:78143268-78154701)
GRCh37/hg19 16q23.1(chr16:78409180-78431277)
GRCh37/hg19 16q23.1(chr16:78458767-78458953)
GRCh37/hg19 16q23.1(chr16:78458774-78463512)
GRCh38/hg38 16q23.1(chr16:78099236-78100272)x0
NM_016373.4(WWOX):c.1005G>A (p.Trp335Ter)	rs730880290
NM_016373.4(WWOX):c.107+1G>A	rs1300924648
NM_016373.4(WWOX):c.140C>G (p.Pro47Arg)	rs730880292
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter)	rs759766243
NM_016373.4(WWOX):c.184G>T (p.Gly62Ter)	rs775696083
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter)	rs201008667
NM_016373.4(WWOX):c.409+1G>T	rs1060502727
NM_016373.4(WWOX):c.46_49del (p.Asp16fs)	rs730880291
NM_016373.4(WWOX):c.517-44258_606-268del
NM_016373.4(WWOX):c.552dup (p.Ala185fs)
NM_016373.4(WWOX):c.606-1G>A	rs730882215
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016373.4(WWOX):c.705dup (p.His236fs)	rs1597216056
NM_016373.4(WWOX):c.730C>T (p.Gln244Ter)	rs752354290
NM_016373.4(WWOX):c.982_998del (p.Tyr328fs)
NM_016373.4:c.(516+1_517-1)_(605+1_606-1)del
NM_016373.4:c.517-11252_606-17640del

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