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 |
|---|---|---|---|
| RS111463684 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, LYST-related disorder, Chédiak-Higashi syndrome |
| RS111722949 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, LYST-related disorder |
| RS112739986 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, LYST-related disorder |
| RS113209379 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, LYST-related disorder |
| RS115330112 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome |
| RS116551057 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS117609949 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1233751084 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1335874945 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS1349597556 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS138393416 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS138443479 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, LYST-related disorder |
| RS140229368 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS140284566 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Autoinflammatory syndrome |
| RS140434436 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome |
| RS140934482 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Abnormal bleeding, Thrombocytopenia |
| RS141764855 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS142344106 | Health Risk | Conflicting classifications of pathogenicity | LYST-related disorder, Chédiak-Higashi syndrome, LYST-related disorder |
| RS142983846 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, LYST-related disorder, Chédiak-Higashi syndrome |
| RS143696500 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, LYST-related disorder, Autoinflammatory syndrome |
| RS143857674 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS144597913 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS144840340 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS144919024 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS145136281 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS145298434 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS145553827 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Inborn genetic diseases |
| RS145892183 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS146335682 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS146457386 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS147220685 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS147221131 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, LYST-related disorder, Chédiak-Higashi syndrome |
| RS147433918 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, LYST-related disorder, Inborn genetic diseases |
| RS1482156206 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS148371004 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, LYST-related disorder |
| RS148542548 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, LYST-related disorder, Chédiak-Higashi syndrome |
| RS149558986 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS150270086 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS150306354 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, LYST-related disorder |
| RS150636017 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Inborn genetic diseases |
| RS150953050 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Nonpapillary renal cell carcinoma |
| RS151130915 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1659440744 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1659473887 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome |
| RS1675833748 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Chédiak-Higashi syndrome, LYST-related disorder |
| RS16832868 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS180889778 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS181450025 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS199617821 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS199672291 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |