ClinVar Miner

List of variants in gene GALC studied for spastic ataxia

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
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)	rs1436074042	0.00001
NM_000153.4(GALC):c.797C>T (p.Thr266Ile)	rs867226993

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