ClinVar Miner

List of variants in gene NOTCH3 studied for migraine disorder

Included ClinVar conditions (40):

Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2
Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies; Developmental and epileptic encephalopathy 98
Charcot-Marie-Tooth disease type 1B; Variegate porphyria; Migraine, familial hemiplegic, 2; Paragangliomas 3
Cognitive impairment; Cerebral atrophy; Memory impairment; Hypoplasia of the corpus callosum; Migraine with aura; Increased CSF lactate; Increased serum pyruvate
Depression; Migraine with aura; Stroke disorder
Elevated circulating creatine kinase concentration; Migraine; Difficulty walking; Positive Romberg sign; Paresthesia; EMG: neuropathic changes; Progressive spinal muscular atrophy; Absent muscle fiber calpain-3
Episodic ataxia type 2; Familial hemiplegic migraine; Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2; Migraine, familial hemiplegic, 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Early Infantile Epileptic Encephalopathy, Autosomal Dominant
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Idiopathic hemiconvulsion-hemiplegia syndrome
Familial hemiplegic migraine
Ischemic stroke; Migraine; Atypical behavior; Cognitive impairment; Depression; Migraine with aura; Abnormal cerebral white matter morphology
Migraine
Migraine with aura
Migraine with aura; Abnormal cerebral white matter morphology
Migraine without aura; Stroke disorder
Migraine, familial hemiplegic, 1
Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42
Migraine, familial hemiplegic, 1; Early Infantile Epileptic Encephalopathy, Autosomal Dominant
Migraine, familial hemiplegic, 2
Migraine, familial hemiplegic, 2; Alternating hemiplegia of childhood
Migraine, familial hemiplegic, 3
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Febrile seizures, familial, 1; Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B
Migraine; Atrial septal defect, ostium secundum type; Rectal prolapse; Stress urinary incontinence; Bicuspid aortic valve
Migraine; Constipation; Abnormal blistering of the skin; Abnormal urinary color
Migraine; Dystonic disorder; Seizure; Hypertonia; Ventriculomegaly; Developmental regression; Attention deficit hyperactivity disorder
Migraine; Hereditary episodic ataxia
Migraine; Memory impairment; Muscle spasm; EMG: neuropathic changes; EMG: myotonic runs; Limb pain
Migraine; Myopathy; Muscle weakness; Abnormality of the musculature; Myalgia; Exercise-induced myalgia; Increased muscle glycogen content
Migraine; Obesity; Short attention span; Muscle weakness; Headache; Nephrolithiasis; Striae distensae; Ectopic ossification; Asthma
Migraine; Short stature; High palate; Hypotension; Malar flattening; Abnormal facial shape; Thin skin; Mitral valve prolapse; Pain
Migraine; Transient ischemic attack; Tension-type headache; Abnormal brain morphology
Primary dilated cardiomyopathy; Migraine; Hemiplegia
Severe myoclonic epilepsy in infancy; Familial hemiplegic migraine; Generalized epilepsy with febrile seizures plus; Early infantile epileptic encephalopathy with suppression bursts
Sporadic hemiplegic migraine

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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.1136G>C (p.Cys379Ser)	rs1599391986
NM_000435.3(NOTCH3):c.1162T>C (p.Cys388Arg)	rs1599391938
NM_000435.3(NOTCH3):c.1450T>G (p.Cys484Gly)	rs1555728965
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)	rs28933696
NM_000435.3(NOTCH3):c.634T>C (p.Cys212Arg)	rs1555729455

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