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 |
|---|---|---|---|
| RS2103306487 | Health Risk | Likely pathogenic | — |
| RS2103314747 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2526914541 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2526932418 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527008372 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527017466 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527072205 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527072900 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527081103 | Health Risk | Likely pathogenic | LYST-related disorder, LYST-related disorder |
| RS2527086097 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527087129 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527102709 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527103588 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527109083 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527114176 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527121232 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527121662 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527159983 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527159996 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527257698 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527284830 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527285195 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527285556 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527300997 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527301480 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527324489 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527363360 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527363381 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527380441 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527380452 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527417596 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527417604 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527417689 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527448865 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527475132 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527528620 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527549383 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527551269 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527622353 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527669033 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527723147 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527734131 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527761995 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527783212 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527784533 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527786424 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527805437 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527813203 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527886589 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527888341 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |