Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
A 0.710 CausalMutation CLINVAR The p.S90L was identified in a pedigree with CMT2 while the p.R96H was identified in a patient with apparently sporadic dHMN. 26815532

2016
dbSNP: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
A 0.710 CausalMutation CLINVAR BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature. 25487175

2015
dbSNP: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
A 0.710 CausalMutation CLINVAR Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904

2014
dbSNP: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
A 0.710 CausalMutation CLINVAR Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis. 21957196

2011
dbSNP: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
A 0.710 CausalMutation CLINVAR Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. 17387721

2007
dbSNP: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
A 0.710 CausalMutation CLINVAR Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. 17486577

2007
dbSNP: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
A 0.710 CausalMutation CLINVAR Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. 14981520

2004
dbSNP: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
C 0.710 GeneticVariation CLINVAR