Gene entry
VPS13B
vacuolar protein sorting 13 homolog B
- Chromosome
- 8
- Cytoband
- 8q22.2
- Variants (rsID)
- 149
VPS13B is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q22.2). Its official name is “vacuolar protein sorting 13 homolog B”. The reference table lists 149 variants (rsID) for this gene.
Clinically classified variants
52 reference-table entries with clinical significance.
- rs113671330Benignsingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs114120664Benignsingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs116746734Benignsingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs138127778Benignsingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs138453594Benignsingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs147710096Benignsingle nucleotide variantCohen syndrome
- rs184381851Benignsingle nucleotide variantCohen syndrome
- rs184693266Benignsingle nucleotide variantCohen syndrome
- rs201147123Benignsingle nucleotide variantCohen syndrome
- rs201483764Benignsingle nucleotide variantCohen syndrome
- rs35342235Benignsingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs61753721Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Cohen syndrome
- rs61753725Benignsingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs61753726Benignsingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs61759485Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Cohen syndrome
- rs6468694Benignsingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs72676269Benignsingle nucleotide variant
- rs7833870Benignsingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs111751379Conflicting interpretationssingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder|Retinitis pigmentosa
- rs117934093Conflicting interpretationssingle nucleotide variantCohen syndrome
- rs139141291Conflicting interpretationssingle nucleotide variantCohen syndrome
- rs139436386Conflicting interpretationssingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs139640224Conflicting interpretationssingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder|Neutropenia, severe congenital, 1, autosomal dominant
- rs140601319Conflicting interpretationssingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder|Intellectual disability
- rs142476821Conflicting interpretationssingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs142674934Conflicting interpretationssingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs143205296Conflicting interpretationssingle nucleotide variantCohen syndrome
- rs145569846Conflicting interpretationssingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs148777544Conflicting interpretationssingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs149478021Conflicting interpretationssingle nucleotide variantCohen syndrome
- rs150185067Conflicting interpretationssingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs201963516Conflicting interpretationssingle nucleotide variantCohen syndrome
- rs28940272Conflicting interpretationssingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs386834068Conflicting interpretationsDuplicationCohen syndrome|History of neurodevelopmental disorder
- rs386834103Likely pathogenicsingle nucleotide variantCohen syndrome
- rs140353201Pathogenicsingle nucleotide variantCohen syndrome
- rs140936527Pathogenicsingle nucleotide variantAbnormality of the eye
- rs180177329PathogenicDuplicationCohen syndrome|Inborn genetic diseases
- rs180177356Pathogenicsingle nucleotide variantCohen syndrome
- rs180177360Pathogenicsingle nucleotide variantCohen syndrome
- rs180177366Pathogenicsingle nucleotide variantCohen syndrome
- rs386834057Pathogenicsingle nucleotide variantCohen syndrome
- rs386834070Pathogenicsingle nucleotide variantCohen syndrome|8 conditions
- rs386834071Pathogenicsingle nucleotide variantCohen syndrome
- rs386834078Pathogenicsingle nucleotide variantCohen syndrome
- rs386834080Pathogenicsingle nucleotide variantCohen syndrome
- rs748404277PathogenicDeletionCohen syndrome|Abnormality of the eye
- rs138930771Uncertain significancesingle nucleotide variantCohen syndrome
- rs147099791Uncertain significancesingle nucleotide variantHistory of neurodevelopmental disorder|Cohen syndrome
- rs191099208Uncertain significancesingle nucleotide variantCohen syndrome|History of neurodevelopmental disorder
- rs201363767Uncertain significancesingle nucleotide variantCohen syndrome
- rs386834104Uncertain significancesingle nucleotide variantCohen syndrome
Other listed variants
- rs1606181
- rs1788160
- rs2122341
- rs2442756
- rs3103705
- rs3110405
- rs4735633
- rs6468676
- rs7006998
- rs9297291
- rs9693641
- rs10089778
- rs10107400
- rs10504988
- rs10955203
- rs11782133
- rs11995956
- rs12680071
- rs13273111
- rs17331148
- rs28409093
- rs28588901
- rs34055173
- rs35318343
- rs35755686
- rs59717397
- rs71516829
- rs72676224
- rs72676250
- rs73271394
- rs75005519
- rs75095614
- rs75426839
- rs75498836
- rs75561533
- rs75738255
- rs75757248
- rs75759456
- rs76406675
- rs76935623
- rs77196097
- rs77344827
- rs77378490
- rs77557312
- rs77635126
- rs77649885
- rs77706283
- rs78178999
- rs78221875
- rs78428901
- rs78645786
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.