Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358259
rs80358259
NPC1
0.740 GeneticVariation BEFREE We assessed mutant protein folding using computer-based molecular dynamics (MD) simulations and molecular docking of the three most common <i>NPC1</i> mutations, all of which result in changes in a cysteine-rich luminal loop region of the protein: a) I1061T is the most commonly detected variant in patients with NP-C worldwide; b) P1007A is the second most common variant, frequently detected in Portuguese, British and German patients; c) G992W occurs most often in patients of Acadian descent. 31506030

2019
dbSNP: rs80358259
rs80358259
NPC1
0.740 GeneticVariation BEFREE Some HDAC inhibitors lead to a dramatic correction in the NPC phenotype in cells with either one or two copies of the NPC1(I1061T) mutation, and for several of the inhibitors, correction is associated with increased expression of NPC1 protein. 21436030

2011
dbSNP: rs80358259
rs80358259
NPC1
G 0.740 CausalMutation CLINVAR Our findings provide the first description of an endoplasmic reticulum trafficking defect as a mechanism for human NPC disease, shedding light on the mechanism by which the NPC1(I1061T) mutation causes disease and suggesting novel approaches to treat NPC disease caused by the NPC1(I1061T) mutation. 18216017

2008
dbSNP: rs80358259
rs80358259
NPC1
0.740 GeneticVariation BEFREE We report on a patient with adult-onset Niemann-Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the NPC1 gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment. 14639697

2003
dbSNP: rs80358259
rs80358259
NPC1
0.740 GeneticVariation BEFREE The I1061T mutation is one of the most common mutations in Niemann-Pick type C disease. 10942596

2000
dbSNP: rs80358259
rs80358259
NPC1
G 0.740 CausalMutation CLINVAR Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype. 10521297

1999
dbSNP: rs80358254
rs80358254
NPC1
0.720 GeneticVariation BEFREE We assessed mutant protein folding using computer-based molecular dynamics (MD) simulations and molecular docking of the three most common <i>NPC1</i> mutations, all of which result in changes in a cysteine-rich luminal loop region of the protein: a) I1061T is the most commonly detected variant in patients with NP-C worldwide; b) P1007A is the second most common variant, frequently detected in Portuguese, British and German patients; c) G992W occurs most often in patients of Acadian descent. 31506030

2019
dbSNP: rs80358254
rs80358254
NPC1
G 0.720 CausalMutation CLINVAR Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease? 24570279

2014
dbSNP: rs80358254
rs80358254
NPC1
G 0.720 CausalMutation CLINVAR Niemann-pick disease type C: new aspects in a long published family - partial manifestations in heterozygotes. 23821321

2014
dbSNP: rs80358254
rs80358254
NPC1
G 0.720 CausalMutation CLINVAR Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. 23773996

2013
dbSNP: rs80358254
rs80358254
NPC1
G 0.720 CausalMutation CLINVAR The adult form of Niemann-Pick disease type C. 17003072

2007
dbSNP: rs80358254
rs80358254
NPC1
0.720 GeneticVariation BEFREE We report a Japanese patient with NPC caused by a homozygous c.2974 G > T mutation of the NPC1 gene, which predicts a glycine (GGG) to tryptophan (TGG) change at codon 992 (designated as p.G992W). 16778374

2006
dbSNP: rs80358254
rs80358254
NPC1
G 0.720 CausalMutation CLINVAR Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. 11333381

2001
dbSNP: rs80358254
rs80358254
NPC1
A 0.720 CausalMutation CLINVAR

dbSNP: rs80358254
rs80358254
NPC1
T 0.720 CausalMutation CLINVAR

dbSNP: rs80358257
rs80358257
NPC1
0.710 GeneticVariation BEFREE We assessed mutant protein folding using computer-based molecular dynamics (MD) simulations and molecular docking of the three most common <i>NPC1</i> mutations, all of which result in changes in a cysteine-rich luminal loop region of the protein: a) I1061T is the most commonly detected variant in patients with NP-C worldwide; b) P1007A is the second most common variant, frequently detected in Portuguese, British and German patients; c) G992W occurs most often in patients of Acadian descent. 31506030

2019
dbSNP: rs80358257
rs80358257
NPC1
C 0.710 CausalMutation CLINVAR Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. 23773996

2013
dbSNP: rs80358257
rs80358257
NPC1
C 0.710 CausalMutation CLINVAR Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. 11333381

2001
dbSNP: rs80358257
rs80358257
NPC1
C 0.710 CausalMutation CLINVAR Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. 10521290

1999
dbSNP: rs139751448
rs139751448
NPC1
T 0.700 CausalMutation CLINVAR Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening. 26981555

2016
dbSNP: rs143124972
rs143124972
NPC1
A 0.700 CausalMutation CLINVAR Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening. 26981555

2016
dbSNP: rs28942104
rs28942104
NPC1
A 0.700 CausalMutation CLINVAR Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening. 26981555

2016
dbSNP: rs756815030
rs756815030
NPC1
C 0.700 CausalMutation CLINVAR Lysosomal Storage Disorders in Egyptian Children. 26830282

2016
dbSNP: rs758902805
rs758902805
NPC1
C 0.700 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: rs80358260
rs80358260
NPC2 ; ISCA2
A 0.700 CausalMutation 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