| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC130003074, UAP1L1 (R8H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130003074, UAP1L1 (W23G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130003074, UAP1L1 (H49Y) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130003074, UAP1L1 (A53G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130003074, UAP1L1 (E55A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
Click to view in NCBI Gene