Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356713
rs80356713
ABCB7
0.010 GeneticVariation BEFREE X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. 11843825

2001
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: rs1563945076
rs1563945076
APTX
T 0.700 CausalMutation CLINVAR

dbSNP: rs1335702493
rs1335702493
APTX
0.010 GeneticVariation BEFREE The previously reported missense mutation W210C in MRE11 gene was identified in two families with autosomal recessive ataxia and oculomotor apraxia. 21324166

2011
dbSNP: rs1555661648
rs1555661648
AQP4 ; AQP4-AS1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs28940893
rs28940893
ARSA
0.010 GeneticVariation BEFREE P426L homozygotes principally presented with progressive gait disturbance caused by spastic paraparesis or cerebellar ataxia; mental disturbance was absent or insignificant at the onset of disease but became more apparent as the disease evolved. 16966551

2006
dbSNP: rs1057518965
rs1057518965
ATM
T 0.700 CausalMutation CLINVAR

dbSNP: rs1208917022
rs1208917022
ATN1
0.010 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: rs606231435
rs606231435
ATP1A3
T 0.720 CausalMutation CLINVAR

dbSNP: rs606231435
rs606231435
ATP1A3
0.720 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: rs606231435
rs606231435
ATP1A3
0.720 GeneticVariation BEFREE We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene. 22924536

2012
dbSNP: rs1064797245
rs1064797245
ATP1A3
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
ATP1A3
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: rs267606670
rs267606670
ATP1A3
0.010 GeneticVariation BEFREE We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene. 22924536

2012
dbSNP: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
A 0.700 CausalMutation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
dbSNP: rs79267946
rs79267946
CA8
A 0.700 GeneticVariation CLINVAR

dbSNP: rs267606695
rs267606695
CA8
0.010 GeneticVariation BEFREE We demonstrate that the mutation S100P is associated with proteasome-mediated degradation, and thus presumably represents a null mutation comparable to the Ca8 mutation underlying the previously described waddles mouse, which exhibits ataxia and appendicular dystonia. 19461874

2009
dbSNP: rs1057519429
rs1057519429
CACNA1A
G 0.710 GeneticVariation CLINVAR

dbSNP: rs1057519429
rs1057519429
CACNA1A
0.710 GeneticVariation BEFREE Exome sequencing in five individuals with severe early onset ataxia identified one novel variant (p.R1673P), in a girl with global developmental delay and progressive cerebellar atrophy, and a recurrent, de novo p.R1664Q variant, in four individuals with global developmental delay, hypotonia, and ophthalmologic abnormalities. 28742085

2017
dbSNP: rs1057519429
rs1057519429
CACNA1A
G 0.710 CausalMutation CLINVAR

dbSNP: rs1555745467
rs1555745467
CACNA1A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1568440440
rs1568440440
CACNA1A
C 0.700 CausalMutation CLINVAR

dbSNP: rs121908212
rs121908212
CACNA1A
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
CACNA1A
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
CACNA1A
0.020 GeneticVariation BEFREE The CACNA1A S218L mutation is associated with familial hemiplegic migraine, ataxia and/or ESCEATHT. 19520699

2009