ClinVar Miner

List of variants in gene ATP1A2 reported as not provided for alternating hemiplegia

Included ClinVar conditions (12):

Alternating hemiplegia of childhood
Alternating hemiplegia of childhood 1
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
Alternating hemiplegia of childhood 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99
Congenital adrenal hypoplasia, X-linked
Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2
Dystonia 12; Alternating hemiplegia of childhood 2
Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99
Migraine, familial hemiplegic, 2; Alternating hemiplegia of childhood

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000702.4(ATP1A2):c.1931G>A (p.Arg644Gln)	rs745824475	0.00001
NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu)	rs121918615

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