| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806878, TBL1XR1
+1 more (C325Y +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 41 | GConflicting classifications of pathogenicity |
| | LOC126806878, TBL1XR1
+1 more (N233del +1 more) | Microsatellite (non-coding transcript variant +1 more) | Pierpont syndrome | |
Click to view in NCBI Gene