| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806878, TBL1XR1
+1 more (D226N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Pierpont syndrome +1 more | |
| | | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 41 +1 more | |
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