Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Translocation | Hypoplasia of the frontal lobes +11 more | |
| | | Translocation | Abnormal facial shape +3 more | |
| | | Translocation | Achalasia +13 more | |
| | LOC129935026, TBR1 (T532fs) | Microsatellite (frameshift variant) | Autistic behavior +12 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene