| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | IFT140, LOC105371046 (V292M) | Single nucleotide variant (missense variant) | Joubert syndrome with Jeune asphyxiating thoracic dystrophy +2 more | |
| | IFT140, LOC105371046 (G212R) | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | IFT140, LOC105371046 (H24Y) | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
Click to view in NCBI Gene