| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1
+1 more (S237A +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Intellectual disability, autosomal dominant 41 | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Intellectual disability, autosomal dominant 41 | |
| | | Deletion (frameshift variant +1 more) | Pierpont syndrome | |
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