Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750009
rs63750009
PSEN1
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
dbSNP: rs28933385
rs28933385
PRNP
0.010 GeneticVariation BEFREE The 58-year-old patient with the E200K mutation coupled to the 129MV codon had gait disturbance, dysarthria, agitation, and ataxic gait, and progressed rapidly to death 3 months from the first onset of symptoms. 19698114

2009
dbSNP: rs74315403
rs74315403
PRNP
0.010 GeneticVariation BEFREE The 67-year-old patient with the D178N-129M mutation showed progressive gait disturbance and dysarthria was in progress. 19698114

2009
dbSNP: rs1057518936
rs1057518936
PNPLA6
G 0.700 GeneticVariation CLINVAR

dbSNP: rs374434303
rs374434303
PNPLA6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1158702707
rs1158702707
PDGFB
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
dbSNP: rs562740927
rs562740927
PANK2
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
dbSNP: rs774277300
rs774277300
MRE11
A 0.700 CausalMutation CLINVAR

dbSNP: rs770703007
rs770703007
MAPK8IP3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs374263073
rs374263073
LAMC2
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
dbSNP: rs727502818
rs727502818
KCNC1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
A 0.700 GeneticVariation CLINVAR

dbSNP: rs63751243
rs63751243
GRN
0.010 GeneticVariation BEFREE We describe a patient with a PGRN c.26C>A mutation who presented with progressive stuttering dysarthria, oculomotor abnormalities, choreic buccolingual movements, and mild parkinsonism. 18442119

2008
dbSNP: rs1555507479
rs1555507479
GNAO1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs104894107
rs104894107
FXN
0.010 GeneticVariation BEFREE In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function. 9989622

1999
dbSNP: rs142157346
rs142157346
FXN
0.010 GeneticVariation BEFREE In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function. 9989622

1999
dbSNP: rs1043679457
rs1043679457
ERCC8
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057518813
rs1057518813
ERCC5 ; BIVM-ERCC5
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
A 0.700 GeneticVariation 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: rs1553630279
rs1553630279
CTNNB1
T 0.700 CausalMutation CLINVAR [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass]. 2614104

1989
dbSNP: rs1553630279
rs1553630279
CTNNB1
T 0.700 CausalMutation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017
dbSNP: rs1553630279
rs1553630279
CTNNB1
T 0.700 CausalMutation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549

2014
dbSNP: rs1561904557
rs1561904557
CSF1R
TGCC 0.700 CausalMutation CLINVAR