Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942077
rs28942077
LYST
0.800 GeneticVariation UNIPROT Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation. 24521565

2014
dbSNP: rs28942077
rs28942077
LYST
0.800 GeneticVariation UNIPROT Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. 11857544

2002
dbSNP: rs28942077
rs28942077
LYST
T 0.800 CausalMutation CLINVAR

dbSNP: rs80338652
rs80338652
LYST
0.710 GeneticVariation BEFREE WGS revealed two compound LYST mutations including a maternally inherited chr1:235969126G > A (rs80338652) and a novel paternally inherited chr1: 235915327A > AT, associated with autosomal recessive CHS. 28145517

2017
dbSNP: rs80338652
rs80338652
LYST
A 0.710 CausalMutation CLINVAR Neurologic involvement in patients with atypical Chediak-Higashi disease. 28193763

2017
dbSNP: rs80338652
rs80338652
LYST
A 0.710 CausalMutation CLINVAR WGS revealed two compound LYST mutations including a maternally inherited chr1:235969126G > A (rs80338652) and a novel paternally inherited chr1: 235915327A > AT, associated with autosomal recessive CHS. 28145517

2017
dbSNP: rs80338652
rs80338652
LYST
A 0.710 CausalMutation CLINVAR Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients. 28458669

2017
dbSNP: rs80338652
rs80338652
LYST
A 0.710 GeneticVariation CLINVAR Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome. 10648412

2000
dbSNP: rs80338652
rs80338652
LYST
A 0.710 CausalMutation CLINVAR Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome. 10648412

2000
dbSNP: rs80338651
rs80338651
LYST
0.710 GeneticVariation BEFREE Novel mutations were identified within the region of the coding domain common to both isoforms in three CHS patients: C-->T transitions that generated stop codons (R50X and Q1029X) were found in two patients, and a novel frameshift mutation (deletion of nucleotides 3073 and 3074 of the coding domain) was found in a third. 9215680

1997
dbSNP: rs80338652
rs80338652
LYST
A 0.710 CausalMutation CLINVAR Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. 8896560

1996
dbSNP: rs80338652
rs80338652
LYST
A 0.710 GeneticVariation CLINVAR Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. 8896560

1996
dbSNP: rs80338651
rs80338651
LYST
A 0.710 CausalMutation CLINVAR

dbSNP: rs80338642
rs80338642
LYST
GC 0.700 CausalMutation CLINVAR

dbSNP: rs80338643
rs80338643
LYST
A 0.700 CausalMutation CLINVAR

dbSNP: rs80338644
rs80338644
LYST
G 0.700 CausalMutation CLINVAR

dbSNP: rs80338646
rs80338646
LYST
CT 0.700 CausalMutation CLINVAR

dbSNP: rs80338649
rs80338649
LYST
T 0.700 CausalMutation CLINVAR

dbSNP: rs80338657
rs80338657
LYST
T 0.700 CausalMutation CLINVAR

dbSNP: rs80338667
rs80338667
LYST
A 0.700 CausalMutation CLINVAR

dbSNP: rs386834059
rs386834059
VPS13B
0.010 GeneticVariation BEFREE Patient 1 is the first report of a severe early-onset CHS with a homozygous missense mutation (c.11362 G>A, p.G3725R) in the LYST/CHS1 gene. 24112114

2014
dbSNP: rs757031141
rs757031141
VPS13B
0.010 GeneticVariation BEFREE Patient 1 is the first report of a severe early-onset CHS with a homozygous missense mutation (c.11362 G>A, p.G3725R) in the LYST/CHS1 gene. 24112114

2014
dbSNP: rs797044542
rs797044542
LYST
0.010 GeneticVariation BEFREE Patient 1 is the first report of a severe early-onset CHS with a homozygous missense mutation (c.11362 G>A, p.G3725R) in the LYST/CHS1 gene. 24112114

2014
dbSNP: rs757222354
rs757222354
LYST
0.010 GeneticVariation BEFREE Here, we describe two siblings with CHS due to a novel homozygous R1836X mutation in the LYST gene associated with loss of NK cell degranulation and cytotoxicity. 21488161

2011