VPS33B Chromosome 15

VPS33B late endosome and lysosome associated

64 variants 64 Health Risk

Upload your DNA to see your personal genotypes for variants in VPS33B.

What This Gene Does

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Associated Conditions (13)

Arthrogryposis

renal dysfunction

and cholestasis 1

VPS33B-related disorder

Keratoderma-ichthyosis-deafness syndrome

autosomal recessive

Cholestasis

progressive familial intrahepatic

Abnormal bleeding

Thrombocytopenia

Microcephaly

Inborn genetic diseases

Key Variants

RS864622006

association

Arthrogryposis, renal dysfunction, and cholestasis 1

Health Risk

RS1289650070

Conflicting classifications of pathogenicity

Arthrogryposis, renal dysfunction, and cholestasis 1

Health Risk

RS138372388

Conflicting classifications of pathogenicity

Health Risk

RS139655526

Conflicting classifications of pathogenicity

Health Risk

RS139709507

Conflicting classifications of pathogenicity

Arthrogryposis, renal dysfunction, and cholestasis 1

Health Risk

RS1416595652

Conflicting classifications of pathogenicity

Health Risk

RS142964161

Conflicting classifications of pathogenicity

Health Risk

RS145092724

Conflicting classifications of pathogenicity

Health Risk

RS145303578

Conflicting classifications of pathogenicity

Health Risk

RS145759754

Conflicting classifications of pathogenicity

Health Risk

RS149121639

Conflicting classifications of pathogenicity

Arthrogryposis, renal dysfunction, and cholestasis 1

Health Risk

RS201431055

Conflicting classifications of pathogenicity

Arthrogryposis, renal dysfunction, and cholestasis 1

Health Risk

All Variants (64)

RSID	Category	Clinical Significance	Conditions
RS864622006	Health Risk	association	Arthrogryposis, renal dysfunction, and cholestasis 1
RS1289650070	Health Risk	Conflicting classifications of pathogenicity	Arthrogryposis, renal dysfunction, and cholestasis 1
RS138372388	Health Risk	Conflicting classifications of pathogenicity	VPS33B-related disorder, Arthrogryposis, renal dysfunction
RS139655526	Health Risk	Conflicting classifications of pathogenicity	VPS33B-related disorder, VPS33B-related disorder
RS139709507	Health Risk	Conflicting classifications of pathogenicity	Arthrogryposis, renal dysfunction, and cholestasis 1
RS1416595652	Health Risk	Conflicting classifications of pathogenicity	—
RS142964161	Health Risk	Conflicting classifications of pathogenicity	VPS33B-related disorder, VPS33B-related disorder
RS145092724	Health Risk	Conflicting classifications of pathogenicity	VPS33B-related disorder, VPS33B-related disorder
RS145303578	Health Risk	Conflicting classifications of pathogenicity	VPS33B-related disorder, Arthrogryposis, renal dysfunction
RS145759754	Health Risk	Conflicting classifications of pathogenicity	—
RS149121639	Health Risk	Conflicting classifications of pathogenicity	Arthrogryposis, renal dysfunction, and cholestasis 1
RS201431055	Health Risk	Conflicting classifications of pathogenicity	Arthrogryposis, renal dysfunction, and cholestasis 1
RS201436915	Health Risk	Conflicting classifications of pathogenicity	VPS33B-related disorder, VPS33B-related disorder
RS369726600	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Cholestasis, progressive familial intrahepatic
RS370555380	Health Risk	Conflicting classifications of pathogenicity	Arthrogryposis, renal dysfunction, and cholestasis 1
RS370691219	Health Risk	Conflicting classifications of pathogenicity	Arthrogryposis, renal dysfunction, and cholestasis 1
RS374202621	Health Risk	Conflicting classifications of pathogenicity	Arthrogryposis, renal dysfunction, and cholestasis 1
RS375376103	Health Risk	Conflicting classifications of pathogenicity	VPS33B-related disorder, VPS33B-related disorder
RS377431744	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS760894269	Health Risk	Conflicting classifications of pathogenicity	Arthrogryposis, renal dysfunction, and cholestasis 1
RS762443300	Health Risk	Conflicting classifications of pathogenicity	Arthrogryposis, renal dysfunction, and cholestasis 1
RS781107857	Health Risk	Conflicting classifications of pathogenicity	Arthrogryposis, renal dysfunction, and cholestasis 1
RS868354713	Health Risk	Conflicting classifications of pathogenicity	Arthrogryposis, renal dysfunction, and cholestasis 1
RS997425993	Health Risk	Conflicting classifications of pathogenicity	VPS33B-related disorder, VPS33B-related disorder
RS1555459218	Health Risk	Likely pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS1567232168	Health Risk	Likely pathogenic	—
RS1596358564	Health Risk	Likely pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS2151662496	Health Risk	Likely pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS2151674862	Health Risk	Likely pathogenic	Keratoderma-ichthyosis-deafness syndrome, autosomal recessive, Keratoderma-ichthyosis-deafness syndrome
RS2544206677	Health Risk	Likely pathogenic	VPS33B-related disorder, VPS33B-related disorder
RS2544219791	Health Risk	Likely pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2544229925	Health Risk	Likely pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS2544234832	Health Risk	Likely pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS532940784	Health Risk	Likely pathogenic	Keratoderma-ichthyosis-deafness syndrome, autosomal recessive, Arthrogryposis
RS765416883	Health Risk	Likely pathogenic	Cholestasis, progressive familial intrahepatic, 12
RS776357060	Health Risk	Likely pathogenic	—
RS1057519063	Health Risk	Pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS1064793614	Health Risk	Pathogenic	—
RS11542638	Health Risk	Pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS1174027832	Health Risk	Pathogenic	—
RS1209349503	Health Risk	Pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS121434383	Health Risk	Pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS121434384	Health Risk	Pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS121434385	Health Risk	Pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS1263540507	Health Risk	Pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS1442840881	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS1555458189	Health Risk	Pathogenic	—
RS1555459968	Health Risk	Pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS1555460030	Health Risk	Pathogenic	Arthrogryposis, renal dysfunction, and cholestasis 1
RS1596348299	Health Risk	Pathogenic	Cholestasis, progressive familial intrahepatic, 12

1 2 Next »