ClinVar Miner

List of variants studied for neonatal-onset developmental and epileptic encephalopathy by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (44):

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, 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
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)	rs114925667	0.00169
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu)	rs761879076	0.00004
NC_000016.10:g.78152047_78188346del
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)	rs1057524820
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp)	rs1555883505
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser)	rs1553798675
NM_004408.4(DNM1):c.1493+5G>A	rs752004261
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)	rs886041761
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016373.4:c.517-11252_606-17640del
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter)	rs374052333
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg)	rs1553770577

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