| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806878, TBL1XR1
+1 more (D370N +1 more) | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | TBL1XR1, TBL1XR1-AS1 (H220R +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
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