Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Joubert syndrome 39 | |
| | | Single nucleotide variant (missense variant +2 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Joubert syndrome 39 | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
Click to view in NCBI Gene