Source: ALL
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
0.710 GeneticVariation BEFREE 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: rs879253777
rs879253777
MFN2
A 0.710 CausalMutation CLINVAR The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. 26378787

2016
dbSNP: rs879253777
rs879253777
MFN2
0.710 GeneticVariation BEFREE A novel p.Val244Leu mutation in MFN2 leads to Charcot-Marie-Tooth disease type 2. 26956144

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: rs879253777
rs879253777
MFN2
A 0.710 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

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: rs879253777
rs879253777
MFN2
A 0.710 CausalMutation CLINVAR Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. 20008656

2009
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 Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. 17387721

2007
dbSNP: rs879253777
rs879253777
MFN2
A 0.710 CausalMutation CLINVAR Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. 15549395

2005
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: rs267607557
rs267607557
LMNA
C 0.700 CausalMutation CLINVAR Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases. 29211919

2018
dbSNP: rs28933093
rs28933093
LMNA
A 0.700 CausalMutation CLINVAR Biomechanical defects and rescue of cardiomyocytes expressing pathologic nuclear lamins. 29432544

2018
dbSNP: rs397517912
rs397517912
LMNA
A 0.700 GeneticVariation CLINVAR Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation. 29095976

2018
dbSNP: rs777601008
rs777601008
AARS1
A 0.700 CausalMutation CLINVAR Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities. 30124830

2018
dbSNP: rs794728591
rs794728591
LMNA
T 0.700 CausalMutation CLINVAR The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope. 29943882

2018
dbSNP: rs119103265
rs119103265
MFN2
T 0.700 CausalMutation CLINVAR Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child. 28063088

2017
dbSNP: rs119103267
rs119103267
MFN2
T 0.700 CausalMutation CLINVAR Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression. 28414270

2017
dbSNP: rs1228406418
rs1228406418
LMNA
A 0.700 CausalMutation CLINVAR Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. 27876398

2017
dbSNP: rs1557522849
rs1557522849
MFN2
T 0.700 CausalMutation CLINVAR Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients. 27862672

2017
dbSNP: rs267607555
rs267607555
LMNA
T 0.700 CausalMutation CLINVAR Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy. 28641778

2017
dbSNP: rs267607555
rs267607555
LMNA
T 0.700 CausalMutation CLINVAR Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation. 28620495

2017