rs758857853
|
|
Action Myoclonus-Renal Failure Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.
|
19454373 |
2009 |
rs886041079
|
|
Action Myoclonus-Renal Failure Syndrome
|
GGTGCATGCAT |
0.700 |
CausalMutation
|
CLINVAR |
Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations.
|
23659519 |
2014 |
rs886041079
|
|
Action Myoclonus-Renal Failure Syndrome
|
GGTGCATGCAT |
0.700 |
CausalMutation
|
CLINVAR |
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.
|
23325613 |
2013 |
rs886041078
|
|
Action Myoclonus-Renal Failure Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2.
|
24620919 |
2014 |
rs886041078
|
|
Action Myoclonus-Renal Failure Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity.
|
24485911 |
2014 |
rs886041077
|
|
Action Myoclonus-Renal Failure Syndrome
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.
|
23225201 |
2012 |
rs886041076
|
|
Action Myoclonus-Renal Failure Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
|
19847901 |
2009 |
rs886041076
|
|
Action Myoclonus-Renal Failure Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2.
|
22767442 |
2012 |
rs886041076
|
|
Action Myoclonus-Renal Failure Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.
|
24339182 |
2014 |
rs886041075
|
|
Action Myoclonus-Renal Failure Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
|
19847901 |
2009 |
rs886041075
|
|
Action Myoclonus-Renal Failure Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
|
22032306 |
2011 |
rs886041074
|
|
Action Myoclonus-Renal Failure Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
|
19847901 |
2009 |
rs886041073
|
|
Action Myoclonus-Renal Failure Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
|
18308289 |
2008 |
rs886041072
|
|
Action Myoclonus-Renal Failure Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
|
22032306 |
2011 |
rs774271963
|
|
Action Myoclonus-Renal Failure Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
|
19847901 |
2009 |
rs755903502
|
|
Action Myoclonus-Renal Failure Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
A mutation in SCARB2 is a modifier in Gaucher disease.
|
21796727 |
2011 |
rs727502783
|
|
Action Myoclonus-Renal Failure Syndrome
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.
|
21670406 |
2011 |
rs727502782
|
|
Action Myoclonus-Renal Failure Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
|
19847901 |
2009 |
rs727502781
|
|
Action Myoclonus-Renal Failure Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
|
19847901 |
2009 |
rs727502773
|
|
Action Myoclonus-Renal Failure Syndrome
|
ACT |
0.700 |
CausalMutation
|
CLINVAR |
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
|
18308289 |
2008 |
rs727502772
|
|
Action Myoclonus-Renal Failure Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
|
18308289 |
2008 |
rs368906199
|
|
Epilepsy, Rolandic
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
|
29358611 |
2018 |
rs200053119
|
|
Action Myoclonus-Renal Failure Syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs200053119
|
|
Myoclonic Epilepsies, Progressive
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations.
|
23659519 |
2014 |
rs200053119
|
|
Action Myoclonus-Renal Failure Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations.
|
23659519 |
2014 |