VPS13B Chromosome 8

Vacuolar protein sorting 13 homolog B
976 variants 976 Health Risk

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
RS60664170 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS61754107 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS61754109 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS61754503 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS727504217 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS73273219 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS745337140 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS745651556 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Inborn genetic diseases
RS745668942 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS745980143 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS750693109 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cohen syndrome, VPS13B-related disorder
RS751190453 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS751715193 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS752808333 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS753530965 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS753703762 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS754443525 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS755227174 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS755937467 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS756641209 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS758028194 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS758412930 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Inborn genetic diseases
RS759095135 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS760564848 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS764708878 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS765163542 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS765442907 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS767239312 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS769551176 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Inborn genetic diseases
RS770669224 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS771022240 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS771667880 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS771916272 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS772842729 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS773242093 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS774730061 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS775071483 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS775601813 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS775883776 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS778049327 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS779095081 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS779782582 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS780314338 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, High myopia
RS780598553 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Gastric cancer, Cohen syndrome
RS780721865 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS78277780 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS79324124 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS797046094 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS797046097 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS886062543 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
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