| | LOC126806878, TBL1XR1 +1 more (S324del +1 more) | Microsatellite (non-coding transcript variant +1 more) | Neoplasm | |
| | | Duplication | Pierpont syndrome | |
| | | Duplication | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more (L225S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | LOC126806878, TBL1XR1 +1 more (G250E +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 41 | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | TBL1XR1, TBL1XR1-AS1 (S235G +1 more) | Single nucleotide variant (missense variant) | Pierpont syndrome | |
| | | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | TBL1XR1, TBL1XR1-AS1 (T238A +1 more) | Single nucleotide variant (missense variant) | Pierpont syndrome | |
| | | Single nucleotide variant (synonymous variant) | TBL1XR1-related disorder +1 more | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (synonymous variant) | Pierpont syndrome | |
| | | Single nucleotide variant (synonymous variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more (P254L +1 more) | Single nucleotide variant (missense variant) | Pierpont syndrome | |
| | TBL1XR1, TBL1XR1-AS1 (H209R +1 more) | Single nucleotide variant (missense variant) | Pierpont syndrome | |
| | TBL1XR1, TBL1XR1-AS1 (K190fs +1 more) | Deletion (frameshift variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more (N233T +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (synonymous variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (synonymous variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | TBL1XR1, TBL1XR1-AS1 (T174fs +1 more) | Duplication (frameshift variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more (T262M +1 more) | Single nucleotide variant (missense variant) | Pierpont syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | LOC126806878, TBL1XR1 +1 more | Microsatellite (intron variant) | not provided | |
| | LOC126806878, TBL1XR1 +1 more (D282G +1 more) | Single nucleotide variant (missense variant) | TBL1XR1-related neurodevelopmental disorder | |
| | | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 41 +1 more | |
| | | Copy number loss | Intellectual disability, autosomal dominant 41 +1 more | |
| | TBL1XR1, TBL1XR1-AS1 (T155P +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | TBL1XR1, TBL1XR1-AS1 (F183C +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 41 | |
| | | Copy number gain | not provided | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (splice donor variant) | Pierpont syndrome | |
| | TBL1XR1, TBL1XR1-AS1 (S196R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 41 | |
| | LOC126806878, TBL1XR1 +1 more (N233del +1 more) | Microsatellite (non-coding transcript variant +1 more) | Pierpont syndrome | |
| | TBL1XR1, TBL1XR1-AS1 (I204V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Pierpont syndrome | |
| | | Single nucleotide variant (synonymous variant) | Pierpont syndrome | |
| | | Microsatellite (intron variant) | Pierpont syndrome | |
| | TBL1XR1-AS1, LOC126806878 +1 more | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | TBL1XR1, TBL1XR1-AS1 (S148N +1 more) | Single nucleotide variant (missense variant) | Pierpont syndrome | |
| | | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | TBL1XR1, TBL1XR1-AS1 (T242A +1 more) | Single nucleotide variant (missense variant) | Pierpont syndrome | |
| | TBL1XR1, TBL1XR1-AS1 (K186R +1 more) | Single nucleotide variant (missense variant) | Pierpont syndrome | |
| | TBL1XR1, TBL1XR1-AS1 (K276R +1 more) | Single nucleotide variant (missense variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more (N275S +1 more) | Single nucleotide variant (missense variant) | Pierpont syndrome | |
| | | Deletion (intron variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (synonymous variant) | Pierpont syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | | Single nucleotide variant (splice donor variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (synonymous variant) | Pierpont syndrome | |
| | | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | | Deletion (intron variant) | Pierpont syndrome | |
| | | Single nucleotide variant (synonymous variant) | Pierpont syndrome | |
| | | Single nucleotide variant (synonymous variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more (S239N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Pierpont syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Pierpont syndrome | |
| | | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more (L249S +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 41 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | LOC126806878, TBL1XR1 +1 more (D283H +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806878, TBL1XR1 +1 more (D226N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Pierpont syndrome +1 more | |
| | 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 |
| | | Copy number gain | not provided | |
| | TBL1XR1, TBL1XR1-AS1 (W165C +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 41 | |
| | | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | | Deletion (intron variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | | Deletion (intron variant) | Pierpont syndrome | |
| | | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | | Single nucleotide variant (synonymous variant) | Pierpont syndrome | |
| | | Single nucleotide variant (synonymous variant) | Pierpont syndrome | |
| | | Single nucleotide variant (synonymous variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (synonymous variant) | Pierpont syndrome | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (intron variant) | Pierpont syndrome | |
| | TBL1XR1, TBL1XR1-AS1 (G263R +1 more) | Single nucleotide variant (missense variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more (T321A +1 more) | Single nucleotide variant (missense variant) | Pierpont syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more (S279F +1 more) | Single nucleotide variant (missense variant) | Pierpont syndrome | |
| | TBL1XR1, TBL1XR1-AS1 (T238P +1 more) | Single nucleotide variant (missense variant) | Pierpont syndrome | |