| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | IFT172, KRTCAP3 (V1637I +1 more) | Single nucleotide variant (missense variant +1 more) | IFT172-related disorder +3 more | |
| | IFT172, KRTCAP3 (R1599C +1 more) | Single nucleotide variant (missense variant +1 more) | IFT172-related disorder +4 more | GConflicting classifications of pathogenicity |
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