Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758857853
rs758857853
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
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
dbSNP: rs121909118
rs121909118
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		A 0.700 CausalMutation CLINVAR Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. 21670406

2011
dbSNP: rs121909118
rs121909118
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
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
dbSNP: rs121909119
rs121909119
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		T 0.700 CausalMutation CLINVAR A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. 18424452

2008
dbSNP: rs1553948516
rs1553948516
SCARB2
CUI: C0027066
Disease: Myoclonus
Myoclonus 		TG 0.700 CausalMutation CLINVAR

dbSNP: rs1553948516
rs1553948516
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		TG 0.700 CausalMutation CLINVAR

dbSNP: rs1553948516
rs1553948516
SCARB2
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		TG 0.700 CausalMutation CLINVAR

dbSNP: rs200053119
rs200053119
SCARB2
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
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
dbSNP: rs200053119
rs200053119
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
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
dbSNP: rs200053119
rs200053119
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs368906199
rs368906199
SCARB2 ; FAM47E
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		T 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs727502772
rs727502772
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
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
dbSNP: rs727502773
rs727502773
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
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
dbSNP: rs727502781
rs727502781
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		G 0.700 CausalMutation CLINVAR SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. 19847901

2009
dbSNP: rs727502782
rs727502782
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		T 0.700 CausalMutation CLINVAR SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. 19847901

2009
dbSNP: rs727502783
rs727502783
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
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
dbSNP: rs755903502
rs755903502
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		C 0.700 CausalMutation CLINVAR A mutation in SCARB2 is a modifier in Gaucher disease. 21796727

2011
dbSNP: rs774271963
rs774271963
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		T 0.700 CausalMutation CLINVAR SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. 19847901

2009
dbSNP: rs886041072
rs886041072
SCARB2 ; FAM47E
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
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
dbSNP: rs886041073
rs886041073
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
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
dbSNP: rs886041074
rs886041074
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		G 0.700 CausalMutation CLINVAR SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. 19847901

2009
dbSNP: rs886041075
rs886041075
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
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
dbSNP: rs886041075
rs886041075
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		T 0.700 CausalMutation CLINVAR SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. 19847901

2009
dbSNP: rs886041076
rs886041076
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
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
dbSNP: rs886041076
rs886041076
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
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