Gene: HNRNPUL2-BSCL2 ×
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

dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
C 0.700 CausalMutation CLINVAR Clinical and electrophysiological features in a French family presenting with seipinopathy. 25454168

2015
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
C 0.700 CausalMutation CLINVAR BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome. 25219579

2015
dbSNP: rs587777606
rs587777606
BSCL2 ; LRRN4CL ; HNRNPUL2-BSCL2
A 0.700 CausalMutation CLINVAR Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease. 26282322

2015
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
C 0.700 CausalMutation CLINVAR Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission. 24345054

2014
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
C 0.700 CausalMutation CLINVAR Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. 23553728

2013
dbSNP: rs587777606
rs587777606
BSCL2 ; LRRN4CL ; HNRNPUL2-BSCL2
A 0.700 CausalMutation CLINVAR A new seipin-associated neurodegenerative syndrome. 23564749

2013
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
C 0.700 CausalMutation CLINVAR Characterization of inclusion bodies with cytoprotective properties formed by seipinopathy-linked mutant seipin. 22045697

2012
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
C 0.700 CausalMutation CLINVAR Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis. 21957196

2011
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
C 0.700 CausalMutation CLINVAR N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. 20598714

2010
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
C 0.700 CausalMutation CLINVAR Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. 18585921

2008
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
C 0.700 CausalMutation CLINVAR Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. 17387721

2007
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
C 0.700 CausalMutation CLINVAR BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. 16427281

2006
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
C 0.700 CausalMutation CLINVAR Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. 15732094

2005
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
C 0.700 CausalMutation CLINVAR Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. 14981520

2004
dbSNP: rs137852975
rs137852975
BSCL2 ; HNRNPUL2-BSCL2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554982914
rs1554982914
BSCL2 ; LRRN4CL ; HNRNPUL2-BSCL2
A 0.700 CausalMutation CLINVAR