| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 21 +2 more | |
| | ARFGEF1, CSPP1 (P1160S +7 more) | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 21 +1 more | |
Click to view in NCBI Gene