| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129933272, PTRHD1 (D64H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129933272, PTRHD1 (G45S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129933272, PTRHD1 (Y28H) | Single nucleotide variant (missense variant) | not specified | |
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