Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750663981
rs750663981
SPG11
AG 0.700 CausalMutation CLINVAR

dbSNP: rs786200949
rs786200949
KIF1A
A 0.700 CausalMutation CLINVAR

dbSNP: rs768136171
rs768136171
SPG7
C 0.700 CausalMutation CLINVAR Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. 9635427

1998
dbSNP: rs587777757
rs587777757
SPAST
0.010 GeneticVariation BEFREE The authors report a nucleotide substitution (c.1216A>G) in SPG4 (spastin) causing hereditary spastic paraplegia. 16476945

2006
dbSNP: rs770388772
rs770388772
SPAST
0.010 GeneticVariation BEFREE The authors report a nucleotide substitution (c.1216A>G) in SPG4 (spastin) causing hereditary spastic paraplegia. 16476945

2006
dbSNP: rs61755320
rs61755320
SPG7
T 0.720 GeneticVariation CLINVAR Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. 16534102

2006
dbSNP: rs1331686243
rs1331686243
NIPA1
0.010 GeneticVariation BEFREE Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia. 16795073

2006
dbSNP: rs864622269
rs864622269
ATL1
0.010 GeneticVariation BEFREE Six patients with an SPG3A mutation (F151S, Q191R, M408T, G469A, R495W) originating from 5 unrelated families presented with a complex form of hereditary spastic paraplegia associated with a neuropathy (17%). 17502470

2007
dbSNP: rs66468541
rs66468541
HSPD1
0.020 GeneticVariation BEFREE We have previously reported the association of a mutation (c.292G > A/p.V98I) in the human HSPD1 gene that encodes the mitochondrial Hsp60 chaperonin with a dominantly inherited form of hereditary spastic paraplegia. 18400758

2008
dbSNP: rs760818649
rs760818649
SPG7
GC 0.700 CausalMutation CLINVAR Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. 18563470

2008
dbSNP: rs61755320
rs61755320
SPG7
T 0.720 GeneticVariation CLINVAR Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. 18799786

2008
dbSNP: rs61755320
rs61755320
SPG7
T 0.720 GeneticVariation CLINVAR Functional evaluation of paraplegin mutations by a yeast complementation assay. 20186691

2010
dbSNP: rs61755320
rs61755320
SPG7
T 0.720 GeneticVariation CLINVAR Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. 21623769

2011
dbSNP: rs61755320
rs61755320
SPG7
T 0.720 GeneticVariation CLINVAR SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V. 22571692

2013
dbSNP: rs61755320
rs61755320
SPG7
T 0.720 GeneticVariation CLINVAR Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. 23065789

2012
dbSNP: rs760818649
rs760818649
SPG7
GC 0.700 CausalMutation CLINVAR Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. 23065789

2012
dbSNP: rs61755320
rs61755320
SPG7
T 0.720 GeneticVariation CLINVAR The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry. 23269439

2013
dbSNP: rs1313275799
rs1313275799
AP4E1
0.010 GeneticVariation BEFREE A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. 23472171

2013
dbSNP: rs61755320
rs61755320
SPG7
T 0.720 GeneticVariation CLINVAR Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 23733235

2013
dbSNP: rs760818649
rs760818649
SPG7
GC 0.700 CausalMutation CLINVAR Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 23733235

2013
dbSNP: rs587777132
rs587777132
ALS2
0.010 GeneticVariation BEFREE Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T. 24315819

2014
dbSNP: rs367916692
rs367916692
CYP7B1
0.010 GeneticVariation BEFREE The patient was homozygous for a mutation (c.1249C>T) in CYP7B1 that alters a highly conserved residue in oxysterol 7 α-hydroxylase (p.R417C) - previously reported in a family with hereditary spastic paraplegia type 5. 24658845

2014
dbSNP: rs897755799
rs897755799
GPT ; MFSD3 ; LOC101928953
0.010 GeneticVariation BEFREE The patient was homozygous for a mutation (c.1249C>T) in CYP7B1 that alters a highly conserved residue in oxysterol 7 α-hydroxylase (p.R417C) - previously reported in a family with hereditary spastic paraplegia type 5. 24658845

2014
dbSNP: rs760818649
rs760818649
SPG7
GC 0.700 CausalMutation CLINVAR SPG7 mutations are a common cause of undiagnosed ataxia. 25681447

2015
dbSNP: rs61755320
rs61755320
SPG7
0.720 GeneticVariation BEFREE Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation. 26506339

2015