ClinVar Miner

List of variants reported as likely pathogenic for alternating hemiplegia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (11):

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
Migraine, familial hemiplegic, 2; Alternating hemiplegia of childhood

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: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)	rs104894899
NM_000475.5(NR0B1):c.1168+1_1168+20del	rs1555972943
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs)	rs1569268070
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro)	rs104894888

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.