Links from MedGen
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Dandy-Walker syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 33 | |
Click to view in NCBI Gene