ClinVar Miner

List of variants in gene GABRB1 reported as likely 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000812.4(GABRB1):c.157C>T (p.Arg53Trp)	rs1135401786
NM_000812.4(GABRB1):c.757C>T (p.Pro253Ser)	rs2110051822
NM_000812.4(GABRB1):c.854C>A (p.Thr285Lys)	rs1728584859
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile)	rs886039818
NM_000812.4(GABRB1):c.898A>T (p.Ile300Phe)

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