| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | MED12-related disorder | |
| | | Single nucleotide variant (missense variant) | MED12-related disorder | |
| | | Deletion (frameshift variant) | MED12-related disorder +1 more | |
| | | Single nucleotide variant (splice donor variant) | MED12-related disorder +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene