ClinVar Miner

List of variants studied for spastic ataxia by Genome Diagnostics Laboratory, University Medical Center Utrecht

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

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)	rs17325713	0.02528
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)	rs146722795	0.00506

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