Gene: SPAST ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908518
rs121908518
SPAST
T 0.800 CausalMutation CLINVAR Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia. 18701882

2009
dbSNP: rs121908518
rs121908518
SPAST
T 0.800 CausalMutation CLINVAR Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons. 24381312

2014
dbSNP: rs121908518
rs121908518
SPAST
G 0.800 CausalMutation CLINVAR

dbSNP: rs121908518
rs121908518
SPAST
T 0.800 CausalMutation CLINVAR A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP. 17597328

2007
dbSNP: rs1553317025
rs1553317025
SPAST
T 0.800 GeneticVariation CLINVAR Clinical features of hereditary spastic paraplegia due to spastin mutation. 16832076

2006
dbSNP: rs1553317025
rs1553317025
SPAST
T 0.800 GeneticVariation CLINVAR Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia. 19875132

2010
dbSNP: rs1553317025
rs1553317025
SPAST
T 0.800 GeneticVariation CLINVAR Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia. 25045380

2014
dbSNP: rs1553317025
rs1553317025
SPAST
T 0.800 GeneticVariation CLINVAR SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. 27334366

2016
dbSNP: rs1553317025
rs1553317025
SPAST
T 0.800 GeneticVariation CLINVAR Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479

2014
dbSNP: rs1553317025
rs1553317025
SPAST
T 0.800 GeneticVariation CLINVAR Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia. 18701882

2009
dbSNP: rs1553317025
rs1553317025
SPAST
T 0.800 GeneticVariation CLINVAR Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. 11843700

2002
dbSNP: rs1553317025
rs1553317025
SPAST
T 0.800 GeneticVariation CLINVAR Novel and recurrent spastin mutations in a large series of SPG4 Italian families. 22960362

2012
dbSNP: rs1553318238
rs1553318238
SPAST
G 0.800 CausalMutation CLINVAR

dbSNP: rs587777757
rs587777757
SPAST
G 0.800 CausalMutation CLINVAR

dbSNP: rs863224923
rs863224923
SPAST
A 0.800 CausalMutation CLINVAR

dbSNP: rs863224923
rs863224923
SPAST
A 0.800 GeneticVariation CLINVAR

dbSNP: rs864622162
rs864622162
SPAST
T 0.800 CausalMutation CLINVAR Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases. 16055926

2006
dbSNP: rs864622162
rs864622162
SPAST
T 0.800 CausalMutation CLINVAR Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. 12552568

2003
dbSNP: rs864622162
rs864622162
SPAST
T 0.800 CausalMutation CLINVAR Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia. 18701882

2009
dbSNP: rs864622162
rs864622162
SPAST
T 0.800 CausalMutation CLINVAR Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. 17594340

2007
dbSNP: rs864622162
rs864622162
SPAST
T 0.800 CausalMutation CLINVAR Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. 26374131

2016
dbSNP: rs864622162
rs864622162
SPAST
T 0.800 CausalMutation CLINVAR Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. 20932283

2010
dbSNP: rs864622179
rs864622179
SPAST
A 0.800 GeneticVariation CLINVAR Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. 11087788

2000
dbSNP: rs864622179
rs864622179
SPAST
A 0.800 GeneticVariation CLINVAR Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791

2011
dbSNP: rs864622179
rs864622179
SPAST
A 0.800 GeneticVariation CLINVAR Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. 11843700

2002