EXOC6B Chromosome 2
Exocyst complex component 6B
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What This Gene Does
This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016]
Gene Info
Gene Group
Exocyst complex
Locus Type
gene with protein product
Location
2p13.2
Ensembl
ENSG00000144036
Associated Conditions (2)
Spondyloepimetaphyseal dysplasia with joint laxity
type 3
Key Variants
RS1553417206
Conflicting classifications of pathogenicity
Health Risk
RS200227562
Conflicting classifications of pathogenicity
Health Risk
RS2105685436
Conflicting classifications of pathogenicity
Health Risk
RS773011698
Conflicting classifications of pathogenicity
Health Risk
RS1064795104
Likely pathogenic
Health Risk
RS2105672766
Likely pathogenic
Health Risk
RS2466370942
Likely pathogenic
Health Risk
RS2467829039
Likely pathogenic
Spondyloepimetaphyseal dysplasia with joint laxity, type 3, Spondyloepimetaphyseal dysplasia with joint laxity
Health Risk
RS374381770
Likely pathogenic
Health Risk
RS1294100541
Pathogenic
Spondyloepimetaphyseal dysplasia with joint laxity, type 3, Spondyloepimetaphyseal dysplasia with joint laxity
Health Risk
RS2104774484
Pathogenic
Spondyloepimetaphyseal dysplasia with joint laxity, type 3, Spondyloepimetaphyseal dysplasia with joint laxity
Health Risk
RS2467737048
Pathogenic
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553417206 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200227562 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2105685436 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773011698 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1064795104 | Health Risk | Likely pathogenic | — |
| RS2105672766 | Health Risk | Likely pathogenic | — |
| RS2466370942 | Health Risk | Likely pathogenic | — |
| RS2467829039 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia with joint laxity, type 3, Spondyloepimetaphyseal dysplasia with joint laxity |
| RS374381770 | Health Risk | Likely pathogenic | — |
| RS1294100541 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia with joint laxity, type 3, Spondyloepimetaphyseal dysplasia with joint laxity |
| RS2104774484 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia with joint laxity, type 3, Spondyloepimetaphyseal dysplasia with joint laxity |
| RS2467737048 | Health Risk | Pathogenic | — |
| RS1195320854 | Health Risk | Pathogenic/Likely pathogenic | — |