ClinVar Miner

List of variants reported as likely pathogenic for migraine disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	rs80356702	0.00001
NM_000435.3(NOTCH3):c.1450T>G (p.Cys484Gly)	rs1555728965
NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter)	rs2057372365
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	rs794727411
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)	rs121917927
NM_001165963.4(SCN1A):c.1922_1923delinsATC (p.Met641fs)	rs1697433995
NM_001165963.4(SCN1A):c.264+5G>A	rs794726762
NM_001165963.4(SCN1A):c.4019T>C (p.Leu1340Pro)	rs1691091949
NM_001165963.4(SCN1A):c.4988T>C (p.Leu1663Ser)	rs1553520425
NM_001165963.4(SCN1A):c.602+3_602+6del	rs1698937795
NM_001165963.4(SCN1A):c.680T>C (p.Ile227Thr)	rs121917937
NM_001165963.4(SCN1A):c.941G>A (p.Trp314Ter)	rs1698574524
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)	rs1057518422

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