| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | TMX2, TMX2-CTNND1 (R111* +6 more) | Single nucleotide variant (missense variant +3 more) | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | |
| | CTNND1, TMX2-CTNND1 (P102fs +2 more) | Deletion (non-coding transcript variant +1 more) | Blepharocheilodontic syndrome 2 | |
| | CTNND1, TMX2-CTNND1 (R295G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Blepharocheilodontic syndrome 2 | |
Click to view in NCBI Gene