| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | RBP4, FFAR4 (G93D +1 more) | Single nucleotide variant (missense variant) | Progressive retinal dystrophy due to retinol transport defect | |
| | FFAR4, RBP4 (I59N +1 more) | Single nucleotide variant (missense variant) | Progressive retinal dystrophy due to retinol transport defect +1 more | GConflicting classifications of pathogenicity |
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