Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907274
rs387907274
FUS
0.050 GeneticVariation BEFREE Recently, a pathogenic FUS-Q290X mutation has been reported in a large ET-affected family; however, the pathophysiologic mechanism underlying FUS-linked ET is unknown. 27395408

2016

dbSNP: rs387907274
rs387907274
FUS
0.050 GeneticVariation BEFREE Recently, through Next-Generation Exome sequencing approaches a mutation resulting in a substitution (p.Q290X) in the nuclear export domain of the FUS protein was nominated as a cause of autosomal dominant essential tremor (ET) in a large kindred. 24262168

2014

dbSNP: rs387907274
rs387907274
FUS
0.050 GeneticVariation BEFREE Exome sequencing in a large essential tremor (ET) family identified a novel nonsense mutation (p.Q290X) in the fused in sarcoma gene (FUS) as the cause of this family. 24080306

2014

dbSNP: rs387907274
rs387907274
FUS
0.050 GeneticVariation BEFREE Recently, in a large ET family (FET1) from Quebec, a non-sense mutation (p.Q290X) in the amyotrophic lateral sclerosis (ALS) gene fused in sarcoma/translated in liposarcoma (FUS/TLS) was identified by exome sequencing. 23114103

2013

dbSNP: rs387907274
rs387907274
FUS
0.050 GeneticVariation BEFREE A recent study using whole exome sequencing identified a rare nonsense variant in the FUS gene (p.Q290X) that segregated with Essential Tremor in a large French Canadian family. 23601511

2013