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: 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: rs1057518796
rs1057518796
SYNGAP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518936
rs1057518936
PNPLA6
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
A 0.700 GeneticVariation CLINVAR

dbSNP: rs145465528
rs145465528
LAMA2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs149595793
rs149595793
DLG3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554555063
rs1554555063
TMEM67
A 0.700 GeneticVariation CLINVAR

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

dbSNP: rs1555745467
rs1555745467
CACNA1A
A 0.700 GeneticVariation CLINVAR

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: rs1561515242
rs1561515242
CAMK4
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1564617866
rs1564617866
POLR3A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1565339091
rs1565339091
HEPACAM ; LOC107984406
C 0.700 GeneticVariation CLINVAR

dbSNP: rs28936415
rs28936415
PMM2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs374434303
rs374434303
PNPLA6
T 0.700 GeneticVariation CLINVAR

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: rs375244209
rs375244209
HSPB1
A 0.700 GeneticVariation CLINVAR

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: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs754081544
rs754081544
TWNK ; MRPL43
G 0.700 GeneticVariation CLINVAR