rs1555565492
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555745467
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1561515242
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1561904557
|
|
TGCC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1564045331
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs181109321
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs374434303
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs375817528
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs387906686
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs727502818
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs730882198
|
|
GT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs768823392
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs770703007
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs774277300
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs778543124
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs781934508
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs782316919
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs864309483
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs869312880
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs2516839
|
|
|
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 |
rs562740927
|
|
|
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 |
rs1158702707
|
|
|
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 |
rs121918097
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two patients with the Gly53Glu mutation showed episodes of dysarthria and hemiparesis, consistent with this genotype.
|
27238058 |
2016 |
rs374263073
|
|
|
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 |
rs63750009
|
|
|
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 |