Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758361736
rs758361736
G 0.700 GeneticVariation CLINVAR

dbSNP: rs771379232
rs771379232
A 0.700 GeneticVariation CLINVAR

dbSNP: rs781934508
rs781934508
T 0.700 GeneticVariation CLINVAR

dbSNP: rs79267946
rs79267946
CA8
A 0.700 GeneticVariation CLINVAR

dbSNP: rs80358243
rs80358243
T 0.700 GeneticVariation CLINVAR

dbSNP: rs863224229
rs863224229
G 0.700 GeneticVariation CLINVAR Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency. 27756633

2016

dbSNP: rs869312702
rs869312702
A 0.700 GeneticVariation CLINVAR

dbSNP: rs104894107
rs104894107
FXN
0.030 GeneticVariation BEFREE Compound heterozygous patients with FA who have a GAA expansion and a G130V mutation have been reported to have an atypical phenotype with a slow disease progression, minimal or no ataxia, or gait spasticity. 11843702

2002

dbSNP: rs104894107
rs104894107
FXN
0.030 GeneticVariation BEFREE We describe here a 41-year-old man with profound vision deficit and episodic complete blindness associated with marked optic atrophy, spastic paraparesis, and sensory neuropathy without ataxia whose diagnostic evaluation revealed compound heterozygosity for two frataxin mutations, a 994 GAA repeat intronic expansion and c.389G > T (p.G130V) missense mutation. 20162437

2010

dbSNP: rs104894107
rs104894107
FXN
0.030 GeneticVariation BEFREE In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function. 9989622

1999

dbSNP: rs113994097
rs113994097
0.030 GeneticVariation BEFREE The mtDNA mutations A3243G, A8344G, T8993G, T8993C, or POLG1 W748S and A467T are very rare causes of adult-onset ataxia in Taiwan. 17300808

2007

dbSNP: rs113994097
rs113994097
0.030 GeneticVariation BEFREE We found the W748S mutation in a 65-year-old man with a late-onset syndrome consisting of ataxia, parkinsonism, ophthalmoplegia, peripheral neuropathy, and sensorineural hearing loss. 18321754

2008

dbSNP: rs113994097
rs113994097
0.030 GeneticVariation BEFREE In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland. 20153822

2010

dbSNP: rs1064797245
rs1064797245
0.020 GeneticVariation BEFREE Furthermore, his phenotype of marked ataxia was more similar to that of an Arg756Cys patient with relapsing encephalopathy and cerebellar ataxia syndrome, than to those with Arg756His and Arg756Leu mutations. 29066118

2018

dbSNP: rs1064797245
rs1064797245
0.020 GeneticVariation BEFREE Patients with R756L and R756C protein variants display more prominent ataxia, overlapping with the relapsing encephalopathy with cerebellar ataxia syndrome previously described in a patient with the c.2266C>T (R756C) mutation. 28647130

2017

dbSNP: rs121908212
rs121908212
0.020 GeneticVariation BEFREE Methods Eight patients from a multigenerational FHM type 1 family harbouring a T666M mutation in the CACNA1A gene were referred to our ataxia outpatient clinic. 28856914

2018

dbSNP: rs121908212
rs121908212
0.020 GeneticVariation BEFREE A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migraine and ataxia. 15210532

2004

dbSNP: rs121908225
rs121908225
0.020 GeneticVariation BEFREE The CACNA1A S218L mutation is associated with familial hemiplegic migraine, ataxia and/or ESCEATHT. 19520699

2009

dbSNP: rs121908225
rs121908225
0.020 GeneticVariation BEFREE R192Q KI mice are non-ataxic, whereas S218L KI mice display a complex behavioral phenotype that includes cerebellar ataxia. 26208839

2015

dbSNP: rs58982919
rs58982919
0.020 GeneticVariation BEFREE Patients with E90K and N98S frequently presented before age 3 years and developed hearing loss or other neurological features including ataxia and/or cerebellar atrophy on brain MRI. 28501821

2017

dbSNP: rs58982919
rs58982919
0.020 GeneticVariation BEFREE We conclude that the NEFL N98S mutation is associated with a DI-CMT phenotype characterized by early-onset sensorimotor neuropathy delaying motor milestones, which may evolve into a severe and complex clinical picture including cerebellar ataxia. 26645395

2016

dbSNP: rs61755320
rs61755320
0.020 GeneticVariation BEFREE This is the largest <i>SPG7</i> cohort study to date and shows a spasticity-predominant phenotype of LOF variants and more frequent cerebellar ataxia and later onset in patients carrying at least 1 Ala510Val variant. 31068484

2019

dbSNP: rs61755320
rs61755320
0.020 GeneticVariation BEFREE The SPG7 c.1529C>T (p.Ala510Val) mutants accounted for 2.3% of cerebellar ataxia cases in Italy, suggesting that this variant should be considered as a priority test in the presence of late-onset pure ataxia. 30098094

2019

dbSNP: rs74315401
rs74315401
0.020 GeneticVariation BEFREE In conclusion, the screening for the P102L mutation, or even the sequencing of the PRNP gene should be taken in consideration in patients with late-onset ataxia (>50 years). 18566986

2008

dbSNP: rs74315401
rs74315401
0.020 GeneticVariation BEFREE Due to the cerebellar ataxia in the early stage, GSS P102L is often misdiagnosed as other neurodegenerative disorders. 29509064

2018