Gene: NPC1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143124972
rs143124972
NPC1
A 0.800 GeneticVariation CLINVAR Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage. 21245028

2011
dbSNP: rs143124972
rs143124972
NPC1
A 0.800 GeneticVariation CLINVAR Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report. 23146215

2012
dbSNP: rs143124972
rs143124972
NPC1
A 0.800 GeneticVariation CLINVAR Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. 16126423

2006
dbSNP: rs143124972
rs143124972
NPC1
A 0.800 GeneticVariation CLINVAR The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. 19744920

2010
dbSNP: rs143124972
rs143124972
NPC1
A 0.800 GeneticVariation CLINVAR Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. 11349231

2001
dbSNP: rs143124972
rs143124972
NPC1
A 0.800 GeneticVariation CLINVAR Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. 10521290

1999
dbSNP: rs150334966
rs150334966
NPC1
A 0.800 GeneticVariation CLINVAR Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report. 30119649

2018
dbSNP: rs150334966
rs150334966
NPC1
A 0.800 GeneticVariation CLINVAR Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. 11349231

2001
dbSNP: rs1555634422
rs1555634422
NPC1
A 0.800 GeneticVariation CLINVAR Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease. 27139891

2016
dbSNP: rs1555634422
rs1555634422
NPC1
A 0.800 GeneticVariation CLINVAR Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity. 28130309

2017
dbSNP: rs1555634422
rs1555634422
NPC1
A 0.800 GeneticVariation CLINVAR Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. 12955717

2003
dbSNP: rs1555634422
rs1555634422
NPC1
A 0.800 GeneticVariation CLINVAR Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection. 27238017

2016
dbSNP: rs1555634422
rs1555634422
NPC1
A 0.800 GeneticVariation CLINVAR Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years. 25236789

2014
dbSNP: rs28942104
rs28942104
NPC1
A 0.800 GeneticVariation CLINVAR The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. 19744920

2010
dbSNP: rs28942104
rs28942104
NPC1
A 0.800 GeneticVariation CLINVAR Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. 9211849

1997
dbSNP: rs28942104
rs28942104
NPC1
A 0.800 GeneticVariation CLINVAR The natural history of Niemann-Pick disease type C in the UK. 17160617

2007
dbSNP: rs28942104
rs28942104
NPC1
A 0.800 GeneticVariation CLINVAR Ryanodine receptor antagonists adapt NPC1 proteostasis to ameliorate lipid storage in Niemann-Pick type C disease fibroblasts. 22505584

2012
dbSNP: rs28942104
rs28942104
NPC1
A 0.800 GeneticVariation CLINVAR Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. 12955717

2003
dbSNP: rs28942104
rs28942104
NPC1
A 0.800 GeneticVariation CLINVAR Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. 16126423

2006
dbSNP: rs28942104
rs28942104
NPC1
A 0.800 GeneticVariation CLINVAR Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1. 23653225

2014
dbSNP: rs28942104
rs28942104
NPC1
A 0.800 CausalMutation CLINVAR

dbSNP: rs28942104
rs28942104
NPC1
A 0.800 GeneticVariation CLINVAR Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. 22676771

2012
dbSNP: rs28942107
rs28942107
NPC1
A 0.800 CausalMutation CLINVAR

dbSNP: rs28942107
rs28942107
NPC1
A 0.800 GeneticVariation CLINVAR Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. 11479732

2001
dbSNP: rs28942107
rs28942107
NPC1
A 0.800 GeneticVariation CLINVAR Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. 16098014

2005