| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | GALT, LOC130001683 (L3fs +1 more) | Deletion (frameshift variant) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | GALT, LOC130001683 (A78fs +1 more) | Indel (frameshift variant) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
Click to view in NCBI Gene