| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome +2 more | GConflicting classifications of pathogenicity |
| | IFT140, LOC105371046 (G212R) | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene