| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant +1 more) | Hepatomegaly +16 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hydrocephalus +25 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene