| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC400541, PDPR (D774N +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC400541, PDPR (L406R +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC400541, PDPR (R737W +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PDPR, LOC400541 (Y847C +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC400541, PDPR (R848S +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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