Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2516839
rs2516839
USF1
0.010 GeneticVariation BEFREE However, we have observed that the TT genotype of the rs2516839 polymorphism was more common in patients with epilepsy and dysarthria, whereas the TT genotype of the rs3737787 polymorphism was more frequent in the group of patients with a decrease in intellectual functioning. 29598907

2018
dbSNP: rs562740927
rs562740927
PANK2
0.010 GeneticVariation BEFREE Through scanning the exons and flanking intronic sequences of PANK2 in patient and control subjects, we report a compound heterozygote c. 260A > G (NM_001324191) and c.405dupC (NM_153638) for PANK2 mutations in a Chinese patient with clinical manifestation of progressive prosopospasm, dysarthria and gait disturbance. 29962256

2018
dbSNP: rs1158702707
rs1158702707
PDGFB
0.010 GeneticVariation BEFREE We identified a novel c.260T > C, p.(Leu87Pro) XPR1 variant in a 41-year-old man complaining of micrographia and dysarthria and demonstrating mild parkinsonism, cerebellar ataxia and executive dysfunction. 27230854

2016
dbSNP: rs121918097
rs121918097
TTR
0.010 GeneticVariation BEFREE Two patients with the Gly53Glu mutation showed episodes of dysarthria and hemiparesis, consistent with this genotype. 27238058

2016
dbSNP: rs374263073
rs374263073
LAMC2
0.010 GeneticVariation BEFREE A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF. 19912322

2010
dbSNP: rs63750009
rs63750009
PSEN1
0.010 GeneticVariation BEFREE A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF. 19912322

2010
dbSNP: rs771744744
rs771744744
SMUG1
0.010 GeneticVariation BEFREE A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF. 19912322

2010
dbSNP: rs28933385
rs28933385
PRNP
0.010 GeneticVariation BEFREE The 58-year-old patient with the E200K mutation coupled to the 129MV codon had gait disturbance, dysarthria, agitation, and ataxic gait, and progressed rapidly to death 3 months from the first onset of symptoms. 19698114

2009
dbSNP: rs74315403
rs74315403
PRNP
0.010 GeneticVariation BEFREE The 67-year-old patient with the D178N-129M mutation showed progressive gait disturbance and dysarthria was in progress. 19698114

2009
dbSNP: rs63751243
rs63751243
GRN
0.010 GeneticVariation BEFREE We describe a patient with a PGRN c.26C>A mutation who presented with progressive stuttering dysarthria, oculomotor abnormalities, choreic buccolingual movements, and mild parkinsonism. 18442119

2008
dbSNP: rs104894107
rs104894107
FXN
0.010 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: rs142157346
rs142157346
FXN
0.010 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: rs1555817157
rs1555817157
ABHD12
A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850

2018
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1114167423
rs1114167423
APTX
A 0.700 CausalMutation CLINVAR Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia. 28652255

2017
dbSNP: rs1553630279
rs1553630279
CTNNB1
T 0.700 CausalMutation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017
dbSNP: rs121918358
rs121918358
SPG7
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs141659620
rs141659620
SPG7
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs61755320
rs61755320
SPG7
T 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs72547551
rs72547551
SPG7
T 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs748309520
rs748309520
SPG7
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs752298579
rs752298579
TANGO2
A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs752989523
rs752989523
SPG7
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
G 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs879253797
rs879253797
SPG7
T 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016