| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (nonsense +1 more) | TMCO1-related disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | |
Click to view in NCBI Gene