ClinVar Miner

List of variants reported as likely pathogenic for neonatal-onset developmental and epileptic encephalopathy by Baylor Genetics

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)	rs376712059	0.00002
NM_016373.4(WWOX):c.605+5G>A	rs1039151413	0.00001
NM_001127222.2(CACNA1A):c.5072T>A (p.Leu1691Gln)	rs2055835744
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile)	rs797045013
NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)
NM_001330260.2(SCN8A):c.4403A>G (p.Asn1468Ser)	rs1057518667
NM_001330260.2(SCN8A):c.4409A>G (p.Gln1470Arg)	rs1555228771
NM_001330260.2(SCN8A):c.4442T>A (p.Met1481Lys)	rs796053219
NM_001330260.2(SCN8A):c.5297T>G (p.Leu1766Arg)	rs1938713472
NM_001330260.2(SCN8A):c.677G>C (p.Arg226Pro)
NM_004408.4(DNM1):c.465_467dup (p.Gln155_Ile156insMet)	rs1057518655
NM_004975.4(KCNB1):c.536T>C (p.Leu179Pro)	rs2122803080
NM_004975.4(KCNB1):c.623T>G (p.Leu208Arg)
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)	rs1555889162
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg)	rs1601071839
NM_014191.4(SCN8A):c.647T>G (p.Val216Gly)	rs879255696
NM_014191.4(SCN8A):c.676A>G (p.Arg226Gly)	rs1592380687
NM_014191.4(SCN8A):c.697G>A (p.Val233Ile)	rs1592380699
NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro)	rs1057519449
NM_177550.5(SLC13A5):c.785T>C (p.Leu262Pro)	rs1973699059

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