| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129929678, PITHD1 (R13C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129929678, PITHD1 (R47L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
Click to view in NCBI Gene