Gene: SPAST ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. 10610178

1999
dbSNP: rs797044850
rs797044850
SPAST
G 0.700 CausalMutation CLINVAR Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. 10610178

1999
dbSNP: rs878854991
rs878854991
SPAST
A 0.700 GeneticVariation CLINVAR Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. 10610178

1999
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. 10699187

2000
dbSNP: rs797044850
rs797044850
SPAST
G 0.700 CausalMutation CLINVAR Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. 10699187

2000
dbSNP: rs878854991
rs878854991
SPAST
A 0.700 GeneticVariation CLINVAR Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. 10699187

2000
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 11309678

2001
dbSNP: rs797044850
rs797044850
SPAST
G 0.700 CausalMutation CLINVAR Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 11309678

2001
dbSNP: rs878854991
rs878854991
SPAST
A 0.700 GeneticVariation CLINVAR Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 11309678

2001
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation. 14681884

2003
dbSNP: rs797044850
rs797044850
SPAST
G 0.700 CausalMutation CLINVAR Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation. 14681884

2003
dbSNP: rs878854991
rs878854991
SPAST
A 0.700 GeneticVariation CLINVAR Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation. 14681884

2003
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene. 15326248

2004
dbSNP: rs797044850
rs797044850
SPAST
G 0.700 CausalMutation CLINVAR Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene. 15326248

2004
dbSNP: rs878854991
rs878854991
SPAST
A 0.700 GeneticVariation CLINVAR Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene. 15326248

2004
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia. 17100993

2006
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. 17101632

2006
dbSNP: rs797044850
rs797044850
SPAST
G 0.700 CausalMutation CLINVAR Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia. 17100993

2006
dbSNP: rs797044850
rs797044850
SPAST
G 0.700 CausalMutation CLINVAR A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. 17101632

2006
dbSNP: rs878854991
rs878854991
SPAST
A 0.700 GeneticVariation CLINVAR A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. 17101632

2006
dbSNP: rs878854991
rs878854991
SPAST
A 0.700 GeneticVariation CLINVAR Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia. 17100993

2006
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia. 18190593

2008
dbSNP: rs797044850
rs797044850
SPAST
G 0.700 CausalMutation CLINVAR Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia. 18190593

2008
dbSNP: rs878854991
rs878854991
SPAST
A 0.700 GeneticVariation CLINVAR Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia. 18190593

2008
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients. 19453301

2009