Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307110
rs1085307110
EPHB1 ; CEP63 ; KY
CATGTCGATAGATACAGCACATGTCGATA 0.700 CausalMutation CLINVAR Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. 28488683

2017
dbSNP: rs771551765
rs771551765
TMEM67
A 0.700 GeneticVariation CLINVAR Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. 27457812

2017
dbSNP: rs558285072
rs558285072
ZFYVE26
A 0.700 CausalMutation CLINVAR Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum. 27544497

2016
dbSNP: rs754944359
rs754944359
AP4S1
T 0.700 CausalMutation CLINVAR Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families. 27444738

2016
dbSNP: rs797045050
rs797045050
KIF1A
T 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs1555177629
rs1555177629
KIF5A
T 0.700 CausalMutation CLINVAR Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln). 26543653

2015
dbSNP: rs1569285562
rs1569285562
KDM5C
C 0.700 GeneticVariation CLINVAR Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. 25666439

2015
dbSNP: rs116171274
rs116171274
CYP7B1
A 0.700 CausalMutation CLINVAR CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. 24117163

2014
dbSNP: rs1555177629
rs1555177629
KIF5A
T 0.700 CausalMutation CLINVAR Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. 25008398

2014
dbSNP: rs587776888
rs587776888
GJC2
G 0.700 CausalMutation CLINVAR GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease. 24374284

2014
dbSNP: rs587777222
rs587777222
CYP7B1
C 0.700 CausalMutation CLINVAR Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1. 24519355

2014
dbSNP: rs746979262
rs746979262
CYP7B1
A 0.700 CausalMutation CLINVAR Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476

2014
dbSNP: rs1160357920
rs1160357920
SACS
T 0.700 CausalMutation CLINVAR Diversity of ARSACS mutations in French-Canadians. 23250129

2013
dbSNP: rs116171274
rs116171274
CYP7B1
A 0.700 CausalMutation CLINVAR Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. 23812641

2013
dbSNP: rs145766983
rs145766983
SACS
A 0.700 CausalMutation CLINVAR Diversity of ARSACS mutations in French-Canadians. 23250129

2013
dbSNP: rs1566055368
rs1566055368
SACS
T 0.700 GeneticVariation CLINVAR Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. 23497566

2013
dbSNP: rs587776888
rs587776888
GJC2
G 0.700 CausalMutation CLINVAR Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease. 23142375

2013
dbSNP: rs116171274
rs116171274
CYP7B1
A 0.700 CausalMutation CLINVAR Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations. 21541746

2012
dbSNP: rs1555177629
rs1555177629
KIF5A
T 0.700 CausalMutation CLINVAR Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. 21623771

2012
dbSNP: rs1569285562
rs1569285562
KDM5C
C 0.700 GeneticVariation CLINVAR A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability. 22326837

2012
dbSNP: rs587776888
rs587776888
GJC2
G 0.700 CausalMutation CLINVAR Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease. 21246605

2012
dbSNP: rs587777222
rs587777222
CYP7B1
C 0.700 CausalMutation CLINVAR Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. 21214876

2012
dbSNP: rs587777222
rs587777222
CYP7B1
C 0.700 CausalMutation CLINVAR Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations. 21541746

2012
dbSNP: rs116171274
rs116171274
CYP7B1
A 0.700 CausalMutation CLINVAR Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. 21623769

2011
dbSNP: rs1259615333
rs1259615333
SACS
A 0.700 CausalMutation CLINVAR Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene. 21745802

2011