Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909329
rs121909329
VCP
T 0.800 CausalMutation CLINVAR Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. 15034582

2004
dbSNP: rs121909329
rs121909329
VCP
T 0.800 CausalMutation CLINVAR Global gene expression profiling in R155H knock-in murine model of VCP disease. 25388089

2015
dbSNP: rs121909329
rs121909329
VCP
T 0.800 CausalMutation CLINVAR The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology. 23029473

2012
dbSNP: rs121909329
rs121909329
VCP
T 0.800 CausalMutation CLINVAR VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death. 19237541

2009
dbSNP: rs121909334
rs121909334
VCP
T 0.800 CausalMutation CLINVAR Altered intersubunit communication is the molecular basis for functional defects of pathogenic p97 mutants. 24196964

2013
dbSNP: rs121909334
rs121909334
VCP
T 0.800 CausalMutation CLINVAR Exome sequencing reveals VCP mutations as a cause of familial ALS. 21145000

2010
dbSNP: rs121909334
rs121909334
VCP
T 0.800 CausalMutation CLINVAR A unique IBMPFD-related P97/VCP mutation with differential binding pattern and subcellular localization. 23333620

2013
dbSNP: rs121909334
rs121909334
VCP
T 0.800 CausalMutation CLINVAR Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. 21984748

2012
dbSNP: rs121909334
rs121909334
VCP
T 0.800 CausalMutation CLINVAR Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels. 23498975

2013
dbSNP: rs121909334
rs121909334
VCP
T 0.800 CausalMutation CLINVAR The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP. 22270372

2012
dbSNP: rs121909334
rs121909334
VCP
T 0.800 CausalMutation CLINVAR VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death. 19237541

2009
dbSNP: rs121909334
rs121909334
VCP
T 0.800 CausalMutation CLINVAR Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. 15034582

2004
dbSNP: rs121909334
rs121909334
VCP
T 0.800 CausalMutation CLINVAR Phenotypic variability in three families with valosin-containing protein mutation. 22900631

2013
dbSNP: rs121909334
rs121909334
VCP
T 0.800 CausalMutation CLINVAR Pathogenic Mutations in the Valosin-containing Protein/p97(VCP) N-domain Inhibit the SUMOylation of VCP and Lead to Impaired Stress Response. 27226613

2016
dbSNP: rs121909335
rs121909335
VCP
T 0.700 CausalMutation CLINVAR Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. 19704082

2009
dbSNP: rs121909335
rs121909335
VCP
T 0.700 CausalMutation CLINVAR VCP mutations in familial and sporadic amyotrophic lateral sclerosis. 22078486

2012
dbSNP: rs121909335
rs121909335
VCP
T 0.700 CausalMutation CLINVAR TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies. 19225410

2009
dbSNP: rs121909335
rs121909335
VCP
T 0.700 CausalMutation CLINVAR Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains. 26555887

2015
dbSNP: rs121909335
rs121909335
VCP
T 0.700 CausalMutation CLINVAR Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 16247064

2005
dbSNP: rs121909335
rs121909335
VCP
T 0.700 CausalMutation CLINVAR Involvement of peripheral and central nervous systems in a valosin-containing protein mutation. 24829604

2014
dbSNP: rs121909335
rs121909335
VCP
T 0.700 CausalMutation CLINVAR Pathogenic Mutations in the Valosin-containing Protein/p97(VCP) N-domain Inhibit the SUMOylation of VCP and Lead to Impaired Stress Response. 27226613

2016
dbSNP: rs121909335
rs121909335
VCP
T 0.700 CausalMutation CLINVAR Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant. 25492614

2014
dbSNP: rs121909335
rs121909335
VCP
T 0.700 CausalMutation CLINVAR The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP. 22270372

2012
dbSNP: rs387906789
rs387906789
VCP
C 0.800 CausalMutation CLINVAR

dbSNP: rs387906789
rs387906789
VCP
A 0.800 CausalMutation CLINVAR Involvement of peripheral and central nervous systems in a valosin-containing protein mutation. 24829604

2014