Gene: NPC1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886042270
rs886042270
NPC1
G 0.700 GeneticVariation CLINVAR Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods. 29100954

2018
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: rs1057518711
rs1057518711
NPC1
C 0.700 GeneticVariation CLINVAR Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 27959697

2017
dbSNP: rs750095738
rs750095738
NPC1
A 0.700 CausalMutation CLINVAR Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity. 28130309

2017
dbSNP: rs758231839
rs758231839
NPC1
T 0.700 CausalMutation CLINVAR Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study. 28222799

2017
dbSNP: rs886042270
rs886042270
NPC1
G 0.700 GeneticVariation CLINVAR Early experience with compassionate use of 2 hydroxypropyl-beta-cyclodextrin for Niemann-Pick type C disease: review of initial published cases. 28155026

2017
dbSNP: rs886042270
rs886042270
NPC1
G 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 Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening. 26981555

2016
dbSNP: rs1555631571
rs1555631571
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: rs1555633326
rs1555633326
NPC1
TC 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: rs1555637232
rs1555637232
NPC1
A 0.700 GeneticVariation CLINVAR [Blood 7-ketocholesterol level, clinical features and gene mutation analysis of 18 children with Niemann-Pick disease type C]. 27256227

2016
dbSNP: rs1555637232
rs1555637232
NPC1
A 0.700 GeneticVariation CLINVAR "Facial Dystonia with Facial Grimacing and Vertical Gaze Palsy with ""Round the Houses"" Sign in a 29-Year-Old Woman." 27928380

2016
dbSNP: rs1555637232
rs1555637232
NPC1
A 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: rs377515417
rs377515417
NPC1
A 0.700 GeneticVariation CLINVAR Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea. 27366019

2016
dbSNP: rs377515417
rs377515417
NPC1
A 0.700 GeneticVariation CLINVAR Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection. 27238017

2016
dbSNP: rs753768576
rs753768576
NPC1
A 0.700 GeneticVariation CLINVAR An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family. 27549128

2016
dbSNP: rs753768576
rs753768576
NPC1
A 0.700 GeneticVariation CLINVAR Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea. 27366019

2016
dbSNP: rs753768576
rs753768576
NPC1
A 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: rs761910746
rs761910746
NPC1
GAA 0.700 GeneticVariation CLINVAR High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. 25764212

2016
dbSNP: rs765729815
rs765729815
NPC1
T 0.700 GeneticVariation CLINVAR Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C. 27581084

2016
dbSNP: rs781261962
rs781261962
NPC1
C 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: rs376213990
rs376213990
NPC1
T 0.700 GeneticVariation CLINVAR A rare case of Niemann-Pick disease type C without neurological involvement in a 66-year-old patient. 26937389

2015
dbSNP: rs377515417
rs377515417
NPC1
A 0.700 GeneticVariation CLINVAR Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. 26666848

2015
dbSNP: rs746715353
rs746715353
NPC1
G 0.700 GeneticVariation CLINVAR Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. 26666848

2015
dbSNP: rs748862167
rs748862167
NPC1
T 0.700 GeneticVariation CLINVAR Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. 26666848

2015