| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
Click to view in NCBI Gene