| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CEP104, LOC126805587 (I607T) | Single nucleotide variant (missense variant) | Joubert syndrome 25 +3 more | GConflicting classifications of pathogenicity |
| | CEP104, LOC126805587 (R593Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
Click to view in NCBI Gene