TBC1D2B Chromosome 15
TBC1 domain family member 2B
Upload your DNA to see your personal genotypes for variants in TBC1D2B.
What This Gene Does
Predicted to enable GTPase activator activity. Involved in endocytosis. Located in cytosol and early endosome. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (2)
TBC1D2B-related disorder
Neurodevelopmental disorder with seizures and gingival overgrowth
Key Variants
RS1215179726
Likely pathogenic
TBC1D2B-related disorder, TBC1D2B-related disorder
Health Risk
RS1428780420
Likely pathogenic
Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth
Health Risk
RS1470259761
Likely pathogenic
TBC1D2B-related disorder, TBC1D2B-related disorder
Health Risk
RS149524007
Likely pathogenic
TBC1D2B-related disorder, TBC1D2B-related disorder
Health Risk
RS2141805189
Likely pathogenic
Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth
Health Risk
RS2141643269
Pathogenic
Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth
Health Risk
RS2141643586
Pathogenic
Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth
Health Risk
RS2141771878
Pathogenic
Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth
Health Risk
RS2141805160
Pathogenic
Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth
Health Risk
RS773764751
Pathogenic
Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1215179726 | Health Risk | Likely pathogenic | TBC1D2B-related disorder, TBC1D2B-related disorder |
| RS1428780420 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth |
| RS1470259761 | Health Risk | Likely pathogenic | TBC1D2B-related disorder, TBC1D2B-related disorder |
| RS149524007 | Health Risk | Likely pathogenic | TBC1D2B-related disorder, TBC1D2B-related disorder |
| RS2141805189 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth |
| RS2141643269 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth |
| RS2141643586 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth |
| RS2141771878 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth |
| RS2141805160 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth |
| RS773764751 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth |