VPS13D Chromosome 1
Vacuolar protein sorting 13 homolog D
Upload your DNA to see your personal genotypes for variants in VPS13D.
What This Gene Does
This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Small nucleolar RNA protein coding host genes|Bridge-like lipid transfer protein family"
Locus Type
gene with protein product
Location
1p36.22-p36.21
Ensembl
ENSG00000048707
Associated Conditions (9)
Inborn genetic diseases
VPS13D-related disorder
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Leigh syndrome
Spinocerebellar atrophy
Spinocerebellar ataxia type 4
Autosomal recessive cerebellar ataxia
Key Variants
RS112983641
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS116415833
Conflicting classifications of pathogenicity
VPS13D-related disorder, Inborn genetic diseases, VPS13D-related disorder
Health Risk
RS116796597
Conflicting classifications of pathogenicity
Health Risk
RS12407578
Conflicting classifications of pathogenicity
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, VPS13D-related disorder, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
Health Risk
RS138906978
Conflicting classifications of pathogenicity
Health Risk
RS1397045479
Conflicting classifications of pathogenicity
Inborn genetic diseases, VPS13D-related disorder, Inborn genetic diseases
Health Risk
RS140096920
Conflicting classifications of pathogenicity
Health Risk
RS141972334
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142033335
Conflicting classifications of pathogenicity
Health Risk
RS142087616
Conflicting classifications of pathogenicity
Health Risk
RS142822216
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143146120
Conflicting classifications of pathogenicity
VPS13D-related disorder, Inborn genetic diseases, VPS13D-related disorder
Health Risk
All Variants (85)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112983641 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS116415833 | Health Risk | Conflicting classifications of pathogenicity | VPS13D-related disorder, Inborn genetic diseases, VPS13D-related disorder |
| RS116796597 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS12407578 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, VPS13D-related disorder, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS138906978 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1397045479 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, VPS13D-related disorder, Inborn genetic diseases |
| RS140096920 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141972334 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142033335 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142087616 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142822216 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143146120 | Health Risk | Conflicting classifications of pathogenicity | VPS13D-related disorder, Inborn genetic diseases, VPS13D-related disorder |
| RS143861538 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143933696 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146488112 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Inborn genetic diseases, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS147406088 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148218951 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148992866 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150135933 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150965747 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1557478316 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Inborn genetic diseases, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS184253678 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS190463258 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS201823549 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Inborn genetic diseases, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS377174939 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS555293849 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746257631 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS749998722 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762329183 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762491658 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS79282181 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, VPS13D-related disorder |
| RS1557708642 | Health Risk | Likely pathogenic | VPS13D-related disorder, VPS13D-related disorder |
| RS1557737087 | Health Risk | Likely pathogenic | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS1569777589 | Health Risk | Likely pathogenic | — |
| RS1645392057 | Health Risk | Likely pathogenic | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS202180923 | Health Risk | Likely pathogenic | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS2101615505 | Health Risk | Likely pathogenic | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS2101615506 | Health Risk | Likely pathogenic | — |
| RS2521645799 | Health Risk | Likely pathogenic | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS2521974385 | Health Risk | Likely pathogenic | Leigh syndrome, Leigh syndrome |
| RS2524054030 | Health Risk | Likely pathogenic | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS2524499650 | Health Risk | Likely pathogenic | — |
| RS749096548 | Health Risk | Likely pathogenic | — |
| RS752094174 | Health Risk | Likely pathogenic | Spinocerebellar atrophy, Spinocerebellar atrophy |
| RS752359125 | Health Risk | Likely pathogenic | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS779850187 | Health Risk | Likely pathogenic | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS867479692 | Health Risk | Likely pathogenic | — |
| RS868354311 | Health Risk | Likely pathogenic | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Spinocerebellar ataxia type 4, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS1190414475 | Health Risk | Pathogenic | — |
| RS1426192255 | Health Risk | Pathogenic | — |