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 |
|---|---|---|---|
| RS80338646 | Health Risk | Pathogenic | CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE, Chédiak-Higashi syndrome |
| RS80338647 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS80338649 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE |
| RS80338651 | Health Risk | Pathogenic | CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE, Chédiak-Higashi syndrome |
| RS80338658 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS80338660 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS80338664 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS80338667 | Health Risk | Pathogenic | CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE, Chédiak-Higashi syndrome |
| RS80338668 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS891787440 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS986454063 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1188244229 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1227624153 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1236600542 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1238562877 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1346059141 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1394834891 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1449954533 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1558282769 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1663631401 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1667309466 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1673263416 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS201694319 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2526908416 | Health Risk | Pathogenic/Likely pathogenic | LYST-related disorder, Chédiak-Higashi syndrome, LYST-related disorder |
| RS2527008662 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527037759 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527258082 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527299680 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527364273 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527531929 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527559893 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527805640 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527973482 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS754616030 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS760317441 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS762160809 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS778586545 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS80338643 | Health Risk | Pathogenic/Likely pathogenic | CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE, Chédiak-Higashi syndrome |
| RS80338652 | Health Risk | Pathogenic/Likely pathogenic | CHEDIAK-HIGASHI SYNDROME, ADULT TYPE, Chédiak-Higashi syndrome |
| RS922968465 | Health Risk | Pathogenic/Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |