Gene: NPC1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1055204017
rs1055204017
NPC1
T 0.700 GeneticVariation CLINVAR Molecular analysis of 30 Niemann-Pick type C patients from Spain. 20718790

2011
dbSNP: rs1055204017
rs1055204017
NPC1
T 0.700 GeneticVariation CLINVAR Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery. 24506780

2014
dbSNP: rs1055204017
rs1055204017
NPC1
T 0.700 GeneticVariation CLINVAR Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening. 26981555

2016
dbSNP: rs1055204017
rs1055204017
NPC1
T 0.700 GeneticVariation CLINVAR Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. 25425405

2014
dbSNP: rs1055204017
rs1055204017
NPC1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1055204017
rs1055204017
NPC1
T 0.700 GeneticVariation CLINVAR New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease. 28167839

2017
dbSNP: rs1055204017
rs1055204017
NPC1
T 0.700 GeneticVariation CLINVAR Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease. 19718781

2009
dbSNP: rs1055204017
rs1055204017
NPC1
T 0.700 GeneticVariation CLINVAR Mitotic spindle defects and chromosome mis-segregation induced by LDL/cholesterol-implications for Niemann-Pick C1, Alzheimer's disease, and atherosclerosis. 23593294

2013
dbSNP: rs1057516260
rs1057516260
NPC1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516462
rs1057516462
NPC1
A 0.700 GeneticVariation CLINVAR Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. 11349231

2001
dbSNP: rs1057516603
rs1057516603
NPC1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516647
rs1057516647
NPC1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516749
rs1057516749
NPC1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516813
rs1057516813
NPC1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516813
rs1057516813
NPC1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516950
rs1057516950
NPC1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517005
rs1057517005
NPC1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517077
rs1057517077
NPC1
A 0.700 GeneticVariation CLINVAR Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations. 19252935

2009
dbSNP: rs1057517149
rs1057517149
NPC1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517186
rs1057517186
NPC1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517194
rs1057517194
NPC1
CA 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517197
rs1057517197
NPC1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517455
rs1057517455
NPC1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518711
rs1057518711
NPC1
C 0.700 GeneticVariation CLINVAR Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 27959697

2017
dbSNP: rs1057518711
rs1057518711
NPC1
C 0.700 CausalMutation CLINVAR