| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Joubert syndrome 6 +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 11 +5 more | |
Click to view in NCBI Gene