VPS13B Chromosome 8
Vacuolar protein sorting 13 homolog B
Upload your DNA to see your personal genotypes for variants in VPS13B.
What This Gene Does
This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Bridge-like lipid transfer protein family
Locus Type
gene with protein product
Location
8q22.2
Ensembl
ENSG00000132549
Associated Conditions (34)
Cohen syndrome
Inborn genetic diseases
VPS13B-related disorder
Abnormal brain morphology
Intellectual disability
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Lung cancer
Gastric cancer
Adrenocortical carcinoma
hereditary
Early onset severe obesity
Familial cancer of breast
Malignant tumor of urinary bladder
Chronic lymphocytic leukemia/small lymphocytic lymphoma
High myopia
early-onset
Ovarian cancer
+14 more conditions
Key Variants
RS1019355776
Conflicting classifications of pathogenicity
Cohen syndrome, Inborn genetic diseases, Cohen syndrome
Health Risk
RS1046756662
Conflicting classifications of pathogenicity
Cohen syndrome, VPS13B-related disorder, Cohen syndrome
Health Risk
RS1057519183
Conflicting classifications of pathogenicity
Cohen syndrome, Cohen syndrome
Health Risk
RS1060499779
Conflicting classifications of pathogenicity
Abnormal brain morphology, Cohen syndrome, Abnormal brain morphology
Health Risk
RS112634620
Conflicting classifications of pathogenicity
Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
Health Risk
RS116546060
Conflicting classifications of pathogenicity
Cohen syndrome, Inborn genetic diseases, Cohen syndrome
Health Risk
RS117148013
Conflicting classifications of pathogenicity
Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
Health Risk
RS1178600682
Conflicting classifications of pathogenicity
Cohen syndrome, Inborn genetic diseases, Cohen syndrome
Health Risk
RS117934093
Conflicting classifications of pathogenicity
Cohen syndrome, VPS13B-related disorder, Cohen syndrome
Health Risk
RS1180933570
Conflicting classifications of pathogenicity
Cohen syndrome, Inborn genetic diseases, Cohen syndrome
Health Risk
RS118158347
Conflicting classifications of pathogenicity
Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
Health Risk
RS1225418115
Conflicting classifications of pathogenicity
Cohen syndrome, Inborn genetic diseases, Cohen syndrome
Health Risk
All Variants (976)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1452649119 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1469729130 | Health Risk | Pathogenic | Global developmental delay, Retinal dystrophy, High myopia |
| RS147315245 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1485428182 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS150393340 | Health Risk | Pathogenic | Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder |
| RS151159090 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1554565645 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1554574028 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1554588038 | Health Risk | Pathogenic | — |
| RS1554588353 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1554590486 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1554622647 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1554625838 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1554634138 | Health Risk | Pathogenic | — |
| RS1554666009 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1554826566 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1554826615 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1554853667 | Health Risk | Pathogenic | Cohen syndrome, VPS13B-related disorder, Cohen syndrome |
| RS1554884733 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554892004 | Health Risk | Pathogenic | — |
| RS1554892040 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1554911731 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1554922054 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1554948192 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1554952465 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1563488907 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1563497733 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1563497844 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1563560592 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1563700205 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1563806122 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1588038825 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1588038976 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1588095580 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1588491595 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1588579347 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1588635717 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1588743576 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1588810676 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1588810695 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS1588811810 | Health Risk | Pathogenic | Cohen syndrome, VPS13B-related disorder, Cohen syndrome |
| RS1672138655 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS180177327 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS180177329 | Health Risk | Pathogenic | Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder |
| RS180177358 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS180177360 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS180177361 | Health Risk | Pathogenic | — |
| RS180177363 | Health Risk | Pathogenic | Cohen syndrome, Cohen syndrome |
| RS180177366 | Health Risk | Pathogenic | Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder |
| RS180177367 | Health Risk | Pathogenic | — |