Gene: SPAST ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908509
rs121908509
SPAST
G 0.800 CausalMutation CLINVAR

dbSNP: rs121908510
rs121908510
SPAST
A 0.800 CausalMutation CLINVAR

dbSNP: rs121908511
rs121908511
SPAST
T 0.800 CausalMutation CLINVAR Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. 10610178

1999
dbSNP: rs121908511
rs121908511
SPAST
T 0.800 CausalMutation CLINVAR Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing. 15716377

2005
dbSNP: rs121908511
rs121908511
SPAST
T 0.800 CausalMutation CLINVAR Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia. 16009769

2005
dbSNP: rs121908511
rs121908511
SPAST
T 0.800 CausalMutation CLINVAR SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. 27334366

2016
dbSNP: rs121908511
rs121908511
SPAST
T 0.800 CausalMutation CLINVAR Spastin gene mutation in Japanese with hereditary spastic paraplegia. 12161613

2002
dbSNP: rs121908511
rs121908511
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: rs121908511
rs121908511
SPAST
T 0.800 CausalMutation CLINVAR Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791

2011
dbSNP: rs121908511
rs121908511
SPAST
T 0.800 CausalMutation CLINVAR Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 11309678

2001
dbSNP: rs121908511
rs121908511
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: rs121908511
rs121908511
SPAST
T 0.800 CausalMutation CLINVAR Mental deficiency in three families with SPG4 spastic paraplegia. 17957230

2008
dbSNP: rs121908511
rs121908511
SPAST
T 0.800 CausalMutation CLINVAR Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. 26208798

2015
dbSNP: rs121908511
rs121908511
SPAST
T 0.800 CausalMutation CLINVAR Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. 16682546

2006
dbSNP: rs121908511
rs121908511
SPAST
T 0.800 CausalMutation CLINVAR Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity. 19438933

2009
dbSNP: rs121908511
rs121908511
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: rs121908511
rs121908511
SPAST
T 0.800 CausalMutation CLINVAR Multimodal MRI-based study in patients with SPG4 mutations. 25658484

2015
dbSNP: rs121908511
rs121908511
SPAST
T 0.800 CausalMutation CLINVAR Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. 20562464

2010
dbSNP: rs121908512
rs121908512
SPAST
G 0.800 CausalMutation CLINVAR

dbSNP: rs121908513
rs121908513
SPAST
A 0.800 CausalMutation CLINVAR

dbSNP: rs121908514
rs121908514
SPAST
G 0.800 CausalMutation CLINVAR

dbSNP: rs121908516
rs121908516
SPAST
T 0.800 CausalMutation CLINVAR

dbSNP: rs121908518
rs121908518
SPAST
T 0.800 CausalMutation CLINVAR Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. 10699187

2000
dbSNP: rs121908518
rs121908518
SPAST
T 0.800 CausalMutation CLINVAR Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. 27084228

2016
dbSNP: rs121908518
rs121908518
SPAST
T 0.800 CausalMutation CLINVAR Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791

2011