Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs606231435
rs606231435
ATP1A3
T 0.720 CausalMutation 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 GeneticVariation CLINVAR

dbSNP: rs1057519429
rs1057519429
CACNA1A
G 0.710 CausalMutation CLINVAR

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

2019
dbSNP: rs531630376
rs531630376
PCDH12
A 0.700 GeneticVariation CLINVAR Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 30459466

2019
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: rs1554943158
rs1554943158
DEAF1
C 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
A 0.700 GeneticVariation CLINVAR The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. 28252636

2017
dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
A 0.700 GeneticVariation CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397

2017
dbSNP: rs141659620
rs141659620
SPG7
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs374997012
rs374997012
TWNK ; MRPL43
T 0.700 GeneticVariation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684

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

2016
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
G 0.700 GeneticVariation CLINVAR Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency. 27756633

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

2016
dbSNP: rs879253798
rs879253798
SPG7
G 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs886037832
rs886037832
TWNK ; MRPL43
C 0.700 CausalMutation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684

2016
dbSNP: rs267607116
rs267607116
TMEM67
A 0.700 CausalMutation CLINVAR Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
dbSNP: rs1043679457
rs1043679457
ERCC8
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057518796
rs1057518796
SYNGAP1
T 0.700 GeneticVariation CLINVAR