| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | See cases +2 more | GPathogenic/Likely pathogenic |
| | IFT140, LOC105371046 (Q416*) | Single nucleotide variant (nonsense) | Retinitis pigmentosa 80 | |
| | IFT140, LOC105371046 (P71L) | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene