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 |
|---|---|---|---|
| RS2527888357 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527961081 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2528042451 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2528043049 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2528043946 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2528089182 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS745358946 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS748659198 | Health Risk | Likely pathogenic | — |
| RS797044534 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS797044540 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS797044542 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS80338655 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS864309530 | Health Risk | Likely pathogenic | Recurrent infections, Chédiak-Higashi syndrome, Recurrent infections |
| RS1157219727 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1179853540 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1281525479 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1315636646 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1316749927 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1411819028 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1444318368 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1468055437 | Health Risk | Pathogenic | Abnormal bleeding, Thrombocytopenia, Chédiak-Higashi syndrome |
| RS1663294340 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1664595275 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1665672573 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1667380258 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1668533101 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1669915673 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1672863537 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1673628520 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2526906935 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2526907455 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2526908392 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2526911861 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527014983 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527016426 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527016939 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527038050 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527070597 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527078803 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527080172 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2527080870 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527086071 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527105833 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527106533 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527110492 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, LYST-related disorder, Chédiak-Higashi syndrome |
| RS2527113160 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527113303 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527114523 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527115755 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527115993 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |