| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806878, TBL1XR1
+1 more | Microsatellite (intron variant) | not provided | |
| | LOC126806878, TBL1XR1
+1 more (D370N +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 41 +3 more | GPathogenic/Likely pathogenic |
| | LOC126806878, TBL1XR1
+1 more | Single nucleotide variant (intron variant) | not provided +1 more | |
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