Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553317028
rs1553317028
C 0.700 GeneticVariation CLINVAR Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. 26374131

2016

dbSNP: rs797044850
rs797044850
G 0.700 CausalMutation CLINVAR Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. 26374131

2016

dbSNP: rs878854991
rs878854991
A 0.700 GeneticVariation CLINVAR Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. 26374131

2016

dbSNP: rs1553317028
rs1553317028
C 0.700 GeneticVariation CLINVAR Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. 26671083

2015

dbSNP: rs1553317028
rs1553317028
C 0.700 GeneticVariation CLINVAR Hereditary spastic paraplegia SPG4: what is known and not known about the disease. 26094131

2015

dbSNP: rs1553317028
rs1553317028
C 0.700 GeneticVariation CLINVAR Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. 26208798

2015

dbSNP: rs797044850
rs797044850
G 0.700 CausalMutation CLINVAR Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. 26671083

2015

dbSNP: rs797044850
rs797044850
G 0.700 CausalMutation CLINVAR Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. 26208798

2015

dbSNP: rs797044850
rs797044850
G 0.700 CausalMutation CLINVAR Hereditary spastic paraplegia SPG4: what is known and not known about the disease. 26094131

2015

dbSNP: rs878854991
rs878854991
A 0.700 GeneticVariation CLINVAR Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. 26671083

2015

dbSNP: rs878854991
rs878854991
A 0.700 GeneticVariation CLINVAR Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. 26208798

2015

dbSNP: rs878854991
rs878854991
A 0.700 GeneticVariation CLINVAR Hereditary spastic paraplegia SPG4: what is known and not known about the disease. 26094131

2015

dbSNP: rs1553317028
rs1553317028
C 0.700 GeneticVariation CLINVAR A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother. 25315759

2014

dbSNP: rs1553317028
rs1553317028
C 0.700 GeneticVariation CLINVAR The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. 25065914

2014

dbSNP: rs1553317028
rs1553317028
C 0.700 GeneticVariation CLINVAR Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics. 24478365

2014

dbSNP: rs1553317028
rs1553317028
C 0.700 GeneticVariation CLINVAR Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. 23438842

2014

dbSNP: rs797044850
rs797044850
G 0.700 CausalMutation CLINVAR The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. 25065914

2014

dbSNP: rs797044850
rs797044850
G 0.700 CausalMutation CLINVAR Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics. 24478365

2014

dbSNP: rs797044850
rs797044850
G 0.700 CausalMutation CLINVAR A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother. 25315759

2014

dbSNP: rs797044850
rs797044850
G 0.700 CausalMutation CLINVAR Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. 23438842

2014

dbSNP: rs878854991
rs878854991
A 0.700 GeneticVariation CLINVAR Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. 23438842

2014

dbSNP: rs878854991
rs878854991
A 0.700 GeneticVariation CLINVAR The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. 25065914

2014

dbSNP: rs878854991
rs878854991
A 0.700 GeneticVariation CLINVAR Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics. 24478365

2014

dbSNP: rs878854991
rs878854991
A 0.700 GeneticVariation CLINVAR A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother. 25315759

2014

dbSNP: rs1553317028
rs1553317028
C 0.700 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013