TBX6 Chromosome 16
T-box transcription factor 6
Upload your DNA to see your personal genotypes for variants in TBX6.
What This Gene Does
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]
Gene Info
Gene Group
T-box transcription factors
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000149922
Associated Conditions (11)
TBX6-related disorder
Scoliosis
Spondylocostal dysostosis 5
Neurodevelopmental abnormality
Gastric cancer
Thymoma
Malignant tumor of urinary bladder
Lung cancer
Inborn genetic diseases
Spondylocostal dysostosis 2
autosomal recessive
Key Variants
RS148435229
Conflicting classifications of pathogenicity
TBX6-related disorder, TBX6-related disorder
Health Risk
RS149724027
Conflicting classifications of pathogenicity
Health Risk
RS200175825
Conflicting classifications of pathogenicity
Scoliosis, Spondylocostal dysostosis 5, TBX6-related disorder
Health Risk
RS201231713
Conflicting classifications of pathogenicity
Neurodevelopmental abnormality, Gastric cancer, Thymoma
Health Risk
RS201620629
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 5, Spondylocostal dysostosis 5
Health Risk
RS202193096
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 5, Scoliosis, Spondylocostal dysostosis 5
Health Risk
RS2289292
Conflicting classifications of pathogenicity
Health Risk
RS369603655
Conflicting classifications of pathogenicity
Health Risk
RS3809624
Conflicting classifications of pathogenicity
Health Risk
RS3809627
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 5, Spondylocostal dysostosis 5
Health Risk
RS756921502
Conflicting classifications of pathogenicity
Scoliosis, Scoliosis
Health Risk
RS759383268
Conflicting classifications of pathogenicity
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148435229 | Health Risk | Conflicting classifications of pathogenicity | TBX6-related disorder, TBX6-related disorder |
| RS149724027 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200175825 | Health Risk | Conflicting classifications of pathogenicity | Scoliosis, Spondylocostal dysostosis 5, TBX6-related disorder |
| RS201231713 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental abnormality, Gastric cancer, Thymoma |
| RS201620629 | Health Risk | Conflicting classifications of pathogenicity | Spondylocostal dysostosis 5, Spondylocostal dysostosis 5 |
| RS202193096 | Health Risk | Conflicting classifications of pathogenicity | Spondylocostal dysostosis 5, Scoliosis, Spondylocostal dysostosis 5 |
| RS2289292 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369603655 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS3809624 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS3809627 | Health Risk | Conflicting classifications of pathogenicity | Spondylocostal dysostosis 5, Spondylocostal dysostosis 5 |
| RS756921502 | Health Risk | Conflicting classifications of pathogenicity | Scoliosis, Scoliosis |
| RS759383268 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768465241 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS773047088 | Health Risk | Conflicting classifications of pathogenicity | Spondylocostal dysostosis 5, TBX6-related disorder, Spondylocostal dysostosis 5 |
| RS1596853067 | Health Risk | Likely pathogenic | Scoliosis, Scoliosis |
| RS2072686903 | Health Risk | Likely pathogenic | TBX6-related disorder, TBX6-related disorder |
| RS2543659119 | Health Risk | Likely pathogenic | Spondylocostal dysostosis 5, Spondylocostal dysostosis 5 |
| RS2543659944 | Health Risk | Likely pathogenic | — |
| RS2543660247 | Health Risk | Likely pathogenic | TBX6-related disorder, TBX6-related disorder |
| RS2543670180 | Health Risk | Likely pathogenic | — |
| RS754292378 | Health Risk | Likely pathogenic | TBX6-related disorder, TBX6-related disorder |
| RS762321473 | Health Risk | Likely pathogenic | Spondylocostal dysostosis 5, Spondylocostal dysostosis 5 |
| RS1567342899 | Health Risk | Pathogenic | Spondylocostal dysostosis 5, Spondylocostal dysostosis 5 |
| RS1596852902 | Health Risk | Pathogenic | Scoliosis, Scoliosis |
| RS1596853085 | Health Risk | Pathogenic | Scoliosis, Scoliosis |
| RS2151031013 | Health Risk | Pathogenic | Spondylocostal dysostosis 5, Spondylocostal dysostosis 5 |
| RS369015359 | Health Risk | Pathogenic | Spondylocostal dysostosis 5, Spondylocostal dysostosis 5 |
| RS587777113 | Health Risk | Pathogenic | Spondylocostal dysostosis 5, Spondylocostal dysostosis 2, autosomal recessive |
| RS61738521 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS758051786 | Health Risk | Pathogenic | Spondylocostal dysostosis 5, Spondylocostal dysostosis 5 |
| RS786204039 | Health Risk | Pathogenic | Spondylocostal dysostosis 5, Spondylocostal dysostosis 5 |
| RS786204040 | Health Risk | Pathogenic | Spondylocostal dysostosis 5, Spondylocostal dysostosis 5 |
| RS879253776 | Health Risk | Pathogenic | Spondylocostal dysostosis 5, Spondylocostal dysostosis 5 |
| RS879253857 | Health Risk | Pathogenic | Spondylocostal dysostosis 5, Spondylocostal dysostosis 5 |
| RS2072634304 | Health Risk | Pathogenic/Likely pathogenic | Spondylocostal dysostosis 5, Spondylocostal dysostosis 5 |