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
RS201650333 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS201723380 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS201963516 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS201973611 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS202015701 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS202052403 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Inborn genetic diseases
RS202226215 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS2130858031 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS2132580942 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS2491773855 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cohen syndrome, VPS13B-related disorder
RS28940272 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Malignant tumor of urinary bladder
RS368851580 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS369117364 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Chronic lymphocytic leukemia/small lymphocytic lymphoma, Cohen syndrome
RS369218128 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS370689956 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS370701337 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS371154826 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS371674854 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS372585253 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Inborn genetic diseases
RS373474658 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS373498932 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS373965494 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS373968888 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS375229257 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS375399419 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS375615155 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS376308074 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS376498106 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS376656751 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS376659281 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS377348581 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Intellectual disability
RS377723973 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS386834068 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS398124330 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS398124333 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS528991858 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cohen syndrome, VPS13B-related disorder
RS533701597 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS533954733 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS535553836 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS540795071 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS542986432 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS545008110 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS547184348 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS551460373 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS561446691 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS562686924 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, VPS13B-related disorder
RS563705133 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Cohen syndrome
RS564362618 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS570925076 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases, Cohen syndrome
RS576577339 Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder, Inborn genetic diseases
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