| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +3 more) | Infantile liver failure syndrome 3 | |
| | EFCAB10, RINT1 (G359del +4 more) | Microsatellite (inframe_deletion +2 more) | Infantile liver failure syndrome 3 | |
Click to view in NCBI Gene