| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | KRTCAP3, IFT172 (C1727R +1 more) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 71 +3 more | |
| | IFT172, LOC126806173 (V1296M) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 10 with or without polydactyly +3 more | |
| | | Deletion (inframe_deletion) | Retinitis pigmentosa | |
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