| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (inframe_insertion) | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | |
| | | Single nucleotide variant (missense variant) | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | |
| | TRAPPC12, TRAPPC12-AS1 (E691Q) | Single nucleotide variant (non-coding transcript variant +1 more) | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | |
Click to view in NCBI Gene