Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692231
rs1131692231
CYFIP2
T 0.700 CausalMutation CLINVAR

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

2016
dbSNP: rs879253799
rs879253799
DCAF17
C 0.700 CausalMutation CLINVAR Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. 26612766

2016
dbSNP: rs150321966
rs150321966
ECHS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs754609693
rs754609693
ECHS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs113994063
rs113994063
EIF2B5
T 0.700 CausalMutation CLINVAR

dbSNP: rs1247665387
rs1247665387
FA2H
A 0.700 GeneticVariation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs796052505
rs796052505
GABRG2
A 0.700 CausalMutation CLINVAR

dbSNP: rs786205861
rs786205861
GCDH
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1566658823
rs1566658823
GCH1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566687487
rs1566687487
GCH1
CG 0.700 CausalMutation CLINVAR

dbSNP: rs104894442
rs104894442
GCH1
0.010 GeneticVariation BEFREE We found a recessive GTPCH mutation (R249S, 747C-->G in a dystonia patient. 10987649

1999
dbSNP: rs753374463
rs753374463
GNAL
0.010 GeneticVariation BEFREE One subject with adult-onset generalized dystonia was found have a novel nonsense GNAL mutation (c.284C>T, p.Ser95X). 23759320

2013
dbSNP: rs1555507479
rs1555507479
GNAO1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1135401746
rs1135401746
GNB1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs752746786
rs752746786
GNB1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1296383102
rs1296383102
HIBCH
0.010 GeneticVariation BEFREE Here, we report a female Chinese patient presenting with exercise-induced dystonia and bilateral symmetrical hyperintensities of the globus pallidus on brain MRI associated with novel HIBCH mutations (c.1027C>G;p. H343D and c.383T>A;p.V128D). 31679561

2019
dbSNP: rs550921485
rs550921485
HPCA
0.010 GeneticVariation BEFREE With the advent of next-generation sequencing technologies, the homozygous mutations T71N and A190T in the neuronal calcium sensor (NCS) hippocalcin were identified as the genetic cause of primary isolated dystonia (DYT2 dystonia). 28398555

2017
dbSNP: rs574658589
rs574658589
HPCA
0.010 GeneticVariation BEFREE Whole-exome sequencing analysis revealed two homozygous novel truncating mutations (p.W103* and p.P10PfsTer80) in the HPCA gene in two unrelated Turkish dystonia families presenting with complex dystonia. 30145809

2018
dbSNP: rs775863165
rs775863165
HPCA
0.010 GeneticVariation BEFREE With the advent of next-generation sequencing technologies, the homozygous mutations T71N and A190T in the neuronal calcium sensor (NCS) hippocalcin were identified as the genetic cause of primary isolated dystonia (DYT2 dystonia). 28398555

2017
dbSNP: rs786205675
rs786205675
HPCA
0.010 GeneticVariation BEFREE In conclusion, our study identifies sAHP as a downstream cellular target perturbed by N75K mutation in DYT2 dystonia, demonstrates its impact on neuronal excitability, and suggests a potential therapeutic strategy to efficiently treat DYT2. 31301343

2019
dbSNP: rs1555731819
rs1555731819
KMT2B
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519279
rs1057519279
KMT2B
0.010 GeneticVariation BEFREE Whole-exome-sequencing-based exploration of a further 30 German-Austrian individuals with early-onset generalized dystonia uncovered another three deleterious mutations in KMT2B-one de novo nonsense mutation (c.1633C>T [p.Arg545<sup>∗</sup>]), one de novo essential splice-site mutation (c.7050-2A>G [p.Phe2321Serfs<sup>∗</sup>93]), and one inherited nonsense mutation (c.2428C>T [p.Gln810<sup>∗</sup>]) co-segregating with dystonia in a three-generation kindred. 27839873

2016