| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | IFT140, LOC126862260 (A973T) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 80 +2 more | GConflicting classifications of pathogenicity |
| | IFT140, LOC126862260 (E966K) | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | GConflicting classifications of pathogenicity |
| | IFT140, LOC126862260 (E933K) | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | |
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