| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 18 | |
| | LOC130004408, TCTN3 (M19V +1 more) | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 18 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene