| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (frameshift variant) | Progressive childhood encephalopathy +1 more | GPathogenic/Likely pathogenic |
| | TRAPPC12, TRAPPC12-AS1 (A627V) | Single nucleotide variant (missense variant) | Progressive childhood encephalopathy +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene