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 |
|---|---|---|---|
| RS751859873 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS752123968 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, LYST-related disorder, Chédiak-Higashi syndrome |
| RS752160342 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS754201076 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS755137786 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS758307405 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS760108842 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS762078094 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, LYST-related disorder, Chédiak-Higashi syndrome |
| RS762146710 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS762254542 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome |
| RS763156837 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome |
| RS763933686 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS764207947 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome |
| RS764843145 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome |
| RS766324119 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS766785648 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS767687843 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, LYST-related disorder |
| RS768616413 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS769942827 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS77091385 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome |
| RS771400826 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS772560535 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS773942795 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS774876336 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS775844553 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS776971122 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS777389303 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Ovarian serous cystadenocarcinoma, Hepatocellular carcinoma |
| RS779154700 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome |
| RS78172154 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS80338669 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, LYST-related disorder, Chédiak-Higashi syndrome |
| RS886046172 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS886046174 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS886046176 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS906201774 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS912444962 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS979729264 | Health Risk | Conflicting classifications of pathogenicity | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1041137098 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1131691428 | Health Risk | Likely pathogenic | — |
| RS1157079200 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1324833938 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1345024890 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1346066490 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1379717085 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS145973468 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1479550470 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1553283111 | Health Risk | Likely pathogenic | — |
| RS1667339912 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS1669798610 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS201382097 | Health Risk | Likely pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2102864339 | Health Risk | Likely pathogenic | Autoinflammatory syndrome, Autoinflammatory syndrome |