ClinVar Miner

List of variants studied for spastic ataxia by Tetreault Lab, University of Montreal Hospital Research Centre (CRCHUM)

Included ClinVar conditions (21):

Autosomal dominant spastic ataxia
Autosomal recessive spastic ataxia
Charlevoix-Saguenay spastic ataxia
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Spastic ataxia 10, autosomal recessive
Spastic ataxia
Spastic ataxia 1
Spastic ataxia 10, autosomal recessive
Spastic ataxia 1; Myasthenic syndrome, congenital, 25, presynaptic
Spastic ataxia 2
Spastic ataxia 3
Spastic ataxia 3; Combined oxidative phosphorylation defect type 25
Spastic ataxia 4
Spastic ataxia 5
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Spastic ataxia 9, autosomal recessive
Spastic ataxia; Cerebellar ataxia
Spastic ataxia; Choreoathetosis; Nystagmus; Dysarthria; Oculomotor apraxia; Intellectual disability; Cerebellar atrophy; Dysmetria; Tremor; Peripheral neuropathy
Spastic ataxia; Sensorimotor neuropathy
Spasticity-ataxia-gait anomalies syndrome
Spinocerebellar ataxia type 28; Spastic ataxia 5
Spinocerebellar ataxia type 28; Spastic ataxia 5; Optic atrophy 12

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)	rs752623413	0.00006
NM_003119.4(SPG7):c.1861C>T (p.Gln621Ter)	rs769258044

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.