Gene: NPC1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358252
rs80358252
NPC1
T 0.800 GeneticVariation CLINVAR [Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes]. 20826119

2010
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: rs372947142
rs372947142
NPC1
A 0.800 GeneticVariation CLINVAR Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. 23453666

2013
dbSNP: rs372445155
rs372445155
NPC1
A 0.800 CausalMutation CLINVAR We report a patient with a classic, neurological, late infantile form of NPC1 disease, carrying the mutation P474L and the variant I642M in the NPC1 gene, who suffered recurrent respiratory manifestations. 16086131

2005
dbSNP: rs768999208
rs768999208
NPC1
T 0.800 GeneticVariation CLINVAR Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure. 28802248

2017
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: rs377515417
rs377515417
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 Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea. 27366019

2016
dbSNP: rs28942105
rs28942105
NPC1
C 0.800 GeneticVariation CLINVAR Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking. 23430855

2012
dbSNP: rs748862167
rs748862167
NPC1
T 0.700 GeneticVariation CLINVAR Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking. 23430855

2012
dbSNP: rs758902805
rs758902805
NPC1
T 0.700 GeneticVariation CLINVAR Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking. 23430855

2012
dbSNP: rs781261962
rs781261962
NPC1
C 0.700 GeneticVariation CLINVAR Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking. 23430855

2012
dbSNP: rs80358259
rs80358259
NPC1
G 0.830 CausalMutation CLINVAR Toward this goal, we have generated an induced pluripotent stem cell line from a subject homozygous for the most frequent NPC1 mutation (p.I1061T) and subsequently created a stable line of neural stem cells (NSCs). 25637190

2015
dbSNP: rs483352886
rs483352886
NPC1
T 0.800 GeneticVariation CLINVAR The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear. 24001525

2013
dbSNP: rs757475924
rs757475924
NPC1
A 0.800 GeneticVariation CLINVAR The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations. 25131710

2014
dbSNP: rs80358252
rs80358252
NPC1
T 0.800 GeneticVariation CLINVAR The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations. 25131710

2014
dbSNP: rs1555631998
rs1555631998
NPC1
T 0.800 GeneticVariation CLINVAR The NPC1 protein: structure implies function. 15465421

2004
dbSNP: rs786204714
rs786204714
NPC1
T 0.800 GeneticVariation CLINVAR The NPC1 protein: structure implies function. 15465421

2004
dbSNP: rs80358254
rs80358254
NPC1
A 0.800 CausalMutation CLINVAR The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. 9634529

1998
dbSNP: rs1555632971
rs1555632971
NPC1
AT 0.700 GeneticVariation CLINVAR The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. 9634529

1998
dbSNP: rs1555631998
rs1555631998
NPC1
T 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 The natural history of Niemann-Pick disease type C in the UK. 17160617

2007
dbSNP: rs28942105
rs28942105
NPC1
C 0.800 GeneticVariation CLINVAR The natural history of Niemann-Pick disease type C in the UK. 17160617

2007
dbSNP: rs786204714
rs786204714
NPC1
T 0.800 GeneticVariation CLINVAR The natural history of Niemann-Pick disease type C in the UK. 17160617

2007
dbSNP: rs748862167
rs748862167
NPC1
T 0.700 GeneticVariation CLINVAR The natural history of Niemann-Pick disease type C in the UK. 17160617

2007