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
RS1019355776 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS1046756662 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS1057519183 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS1060499779 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Cohen syndrome, Abnormal brain morphology
RS112634620 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS116546060 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS117148013 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS1178600682 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS117934093 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS1180933570 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS118158347 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS1225418115 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS1277958075 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS1335342521 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS138171489 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS138417551 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS138930771 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS139141291 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS139227281 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS1393723853 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS139436386 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS140015545 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS140090983 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS140095832 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS140179844 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS140601319 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Intellectual disability, Inborn genetic diseases
RS140709787 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Inborn genetic diseases
RS141211386 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS141275433 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Inborn genetic diseases
RS141324814 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS141408531 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS141566041 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Inborn genetic diseases
RS141637316 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS141638933 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Inborn genetic diseases
RS141793014 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS142110082 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS142248228 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS142380266 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS142674934 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS142971568 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS143024324 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cohen syndrome, VPS13B-related disorder
RS143112539 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS143205296 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS143295587 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cohen syndrome, VPS13B-related disorder
RS143566455 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS143728471 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS144223843 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS144350008 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS144668374 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Inborn genetic diseases
RS145208175 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
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