LYST Chromosome 1
Lysosomal trafficking regulator
Upload your DNA to see your personal genotypes for variants in LYST.
What This Gene Does
This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013]
Gene Info
Gene Group
"WD repeat domain containing|BEACH domain containing |MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1q42.3
Ensembl
ENSG00000143669
Associated Conditions (20)
Chédiak-Higashi syndrome
LYST-related disorder
Inborn genetic diseases
Autoinflammatory syndrome
Meniere disease
Abnormal bleeding
Thrombocytopenia
Nonpapillary renal cell carcinoma
Clear cell carcinoma of kidney
Thyroid cancer
nonmedullary
1
Melanoma
Spastic ataxia
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Recurrent infections
CHEDIAK-HIGASHI SYNDROME
ADULT TYPE
CHILDHOOD TYPE
Key Variants
RS111463684
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, LYST-related disorder, Chédiak-Higashi syndrome
Health Risk
RS111722949
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Inborn genetic diseases, LYST-related disorder
Health Risk
RS112739986
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Autoinflammatory syndrome, LYST-related disorder
Health Risk
RS113209379
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Autoinflammatory syndrome, LYST-related disorder
Health Risk
RS115330112
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome
Health Risk
RS116551057
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
Health Risk
RS117609949
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
Health Risk
RS1233751084
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
Health Risk
RS1335874945
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome
Health Risk
RS1349597556
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome
Health Risk
RS138393416
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
Health Risk
RS138443479
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Autoinflammatory syndrome, LYST-related disorder
Health Risk
All Variants (340)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199768620 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS199855658 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS199857997 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, LYST-related disorder, Chédiak-Higashi syndrome |
| RS200132460 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS200511787 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS200512692 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Clear cell carcinoma of kidney, Chédiak-Higashi syndrome |
| RS200557017 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS200610828 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS201106245 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, LYST-related disorder, Chédiak-Higashi syndrome |
| RS201255245 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS201398337 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Inborn genetic diseases |
| RS201440611 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS201513511 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome |
| RS2527133215 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527732015 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2753327 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Inborn genetic diseases |
| RS34702903 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, LYST-related disorder |
| RS368394921 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS368500877 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS368618083 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, LYST-related disorder, Chédiak-Higashi syndrome |
| RS369153654 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS369772005 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS370441301 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS371248013 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome |
| RS372754364 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS373577384 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS373930104 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome |
| RS373971587 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS374429343 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS374949148 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS375332299 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS375665715 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS376259384 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome |
| RS376821187 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Thyroid cancer, nonmedullary |
| RS534142793 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Inborn genetic diseases |
| RS540634120 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS544018977 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS551224676 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS556200563 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Clear cell carcinoma of kidney, Melanoma |
| RS557545474 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome |
| RS559869925 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome |
| RS569497153 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS746829669 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS746911004 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Spastic ataxia, Chédiak-Higashi syndrome |
| RS747965676 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS74861744 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome |
| RS748908539 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome |
| RS749282192 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS750662250 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Chédiak-Higashi syndrome, Autoinflammatory syndrome |
| RS751511204 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |