TELO2 Chromosome 16
Telomere maintenance 2
Upload your DNA to see your personal genotypes for variants in TELO2.
What This Gene Does
This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009]
Gene Info
Gene Group
"TTT complex|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000100726
Associated Conditions (3)
Inborn genetic diseases
TELO2-related intellectual disability-neurodevelopmental disorder
TELO2-related disorder
Key Variants
RS1243259932
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141008024
Conflicting classifications of pathogenicity
TELO2-related intellectual disability-neurodevelopmental disorder, Inborn genetic diseases, TELO2-related intellectual disability-neurodevelopmental disorder
Health Risk
RS142217951
Conflicting classifications of pathogenicity
TELO2-related intellectual disability-neurodevelopmental disorder, Inborn genetic diseases, TELO2-related intellectual disability-neurodevelopmental disorder
Health Risk
RS144491833
Conflicting classifications of pathogenicity
Health Risk
RS144863771
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148894015
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS187225056
Conflicting classifications of pathogenicity
TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder
Health Risk
RS199863486
Conflicting classifications of pathogenicity
TELO2-related intellectual disability-neurodevelopmental disorder, Inborn genetic diseases, TELO2-related intellectual disability-neurodevelopmental disorder
Health Risk
RS201230315
Conflicting classifications of pathogenicity
TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder
Health Risk
RS201880805
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369510162
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369656775
Conflicting classifications of pathogenicity
TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1243259932 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141008024 | Health Risk | Conflicting classifications of pathogenicity | TELO2-related intellectual disability-neurodevelopmental disorder, Inborn genetic diseases, TELO2-related intellectual disability-neurodevelopmental disorder |
| RS142217951 | Health Risk | Conflicting classifications of pathogenicity | TELO2-related intellectual disability-neurodevelopmental disorder, Inborn genetic diseases, TELO2-related intellectual disability-neurodevelopmental disorder |
| RS144491833 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144863771 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148894015 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS187225056 | Health Risk | Conflicting classifications of pathogenicity | TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder |
| RS199863486 | Health Risk | Conflicting classifications of pathogenicity | TELO2-related intellectual disability-neurodevelopmental disorder, Inborn genetic diseases, TELO2-related intellectual disability-neurodevelopmental disorder |
| RS201230315 | Health Risk | Conflicting classifications of pathogenicity | TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder |
| RS201880805 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369510162 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369656775 | Health Risk | Conflicting classifications of pathogenicity | TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder |
| RS370979904 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS371675497 | Health Risk | Conflicting classifications of pathogenicity | TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder |
| RS375348828 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS538338106 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61742313 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756795932 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758551997 | Health Risk | Conflicting classifications of pathogenicity | TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder |
| RS760719554 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS764823412 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778573781 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS878853271 | Health Risk | Conflicting classifications of pathogenicity | TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder |
| RS1555469732 | Health Risk | Likely pathogenic | — |
| RS2141037423 | Health Risk | Likely pathogenic | — |
| RS2505926819 | Health Risk | Likely pathogenic | — |
| RS76038845 | Health Risk | Likely pathogenic | — |
| RS779227414 | Health Risk | Likely pathogenic | TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder |
| RS1187013377 | Health Risk | Pathogenic | — |
| RS1275239738 | Health Risk | Pathogenic | — |
| RS1468737207 | Health Risk | Pathogenic | — |
| RS2505910497 | Health Risk | Pathogenic | — |
| RS2505987224 | Health Risk | Pathogenic | — |
| RS572431474 | Health Risk | Pathogenic | — |
| RS766665093 | Health Risk | Pathogenic | TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder |
| RS202020308 | Health Risk | Pathogenic/Likely pathogenic | TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related disorder, TELO2-related intellectual disability-neurodevelopmental disorder |
| RS754162070 | Health Risk | Pathogenic/Likely pathogenic | TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder |