| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | |
| | | Single nucleotide variant (intron variant) | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | |
| | TRAPPC12, TRAPPC12-AS1 (L697P) | Single nucleotide variant (missense variant) | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities +2 more | |
Click to view in NCBI Gene