| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | IFT140, LOC126862260 (R982Q) | Single nucleotide variant (missense variant) | Retinal dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Saldino-Mainzer syndrome | |
| | | Copy number gain | Chromosome 16p13.3 duplication syndrome | |
| | | Copy number loss | Saldino-Mainzer syndrome | |
Click to view in NCBI Gene