ClinVar Miner

List of variants in gene combination ATP1A2, LOC126805890 reported as likely pathogenic for migraine with aura

Included ClinVar conditions (27):

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 circulating pyruvate concentration
Depression; Migraine with aura; Stroke disorder
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 with aura
Migraine with aura; Abnormal cerebral white matter morphology
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
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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000702.4(ATP1A2):c.496-1G>A	rs773117459
NM_000702.4(ATP1A2):c.604C>T (p.Arg202Trp)	rs1219118149
NM_000702.4(ATP1A2):c.748+1G>C

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